Psychiatric Genomics and Mental Health Treatment: Setting the Ethical Agenda.

Science.gov (United States)

Kong, Camillia; Dunn, Michael; Parker, Michael

2017-04-01

Realizing the benefits of translating psychiatric genomics research into mental health care is not straightforward. The translation process gives rise to ethical challenges that are distinctive from challenges posed within psychiatric genomics research itself, or that form part of the delivery of clinical psychiatric genetics services. This article outlines and considers three distinct ethical concerns posed by the process of translating genomic research into frontline psychiatric practice and policy making. First, the genetic essentialism that is commonly associated with the genomics revolution in health care might inadvertently exacerbate stigma towards people with mental disorders. Secondly, the promises of genomic medicine advance a narrative of individual empowerment. This narrative could promote a fatalism towards patients' biology in ways that function in practice to undermine patients' agency and autonomy, or, alternatively, a heightened sense of subjective genetic responsibility could become embedded within mental health services that leads to psychosocial therapeutic approaches and the clinician-patient therapeutic alliance being undermined. Finally, adopting a genomics-focused approach to public mental health risks shifting attention away from the complex causal relationships between inequitable socio-economic, political, and cultural structures and negative mental health outcomes. The article concludes by outlining a number of potential pathways for future ethics research that emphasizes the importance of examining appropriate translation mechanisms, the complementarity between genetic and psychosocial models of mental disorder, the implications of genomic information for the clinician-patient relationship, and funding priorities and resource allocation decision making in mental health.

Genomics in health and disease | Shawky | Egyptian Journal of ...

African Journals Online (AJOL)

Genomics is the study of all person's genes including interactions of those genes ... Our environment and our biology are two factors that strongly influence our health. ... The completion of the Human Genome Project signaled that the genome ...

Whole genome sequencing in clinical and public health microbiology.

Science.gov (United States)

Kwong, J C; McCallum, N; Sintchenko, V; Howden, B P

2015-04-01

Genomics and whole genome sequencing (WGS) have the capacity to greatly enhance knowledge and understanding of infectious diseases and clinical microbiology.The growth and availability of bench-top WGS analysers has facilitated the feasibility of genomics in clinical and public health microbiology.Given current resource and infrastructure limitations, WGS is most applicable to use in public health laboratories, reference laboratories, and hospital infection control-affiliated laboratories.As WGS represents the pinnacle for strain characterisation and epidemiological analyses, it is likely to replace traditional typing methods, resistance gene detection and other sequence-based investigations (e.g., 16S rDNA PCR) in the near future.Although genomic technologies are rapidly evolving, widespread implementation in clinical and public health microbiology laboratories is limited by the need for effective semi-automated pipelines, standardised quality control and data interpretation, bioinformatics expertise, and infrastructure.

Using Genome Sequence to Enable the Design of Medicines and Chemical Probes.

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Angelbello, Alicia J; Chen, Jonathan L; Childs-Disney, Jessica L; Zhang, Peiyuan; Wang, Zi-Fu; Disney, Matthew D

2018-02-28

Rapid progress in genome sequencing technology has put us firmly into a postgenomic era. A key challenge in biomedical research is harnessing genome sequence to fulfill the promise of personalized medicine. This Review describes how genome sequencing has enabled the identification of disease-causing biomolecules and how these data have been converted into chemical probes of function, preclinical lead modalities, and ultimately U.S. Food and Drug Administration (FDA)-approved drugs. In particular, we focus on the use of oligonucleotide-based modalities to target disease-causing RNAs; small molecules that target DNA, RNA, or protein; the rational repurposing of known therapeutic modalities; and the advantages of pharmacogenetics. Lastly, we discuss the remaining challenges and opportunities in the direct utilization of genome sequence to enable design of medicines.

"Harnessing genomics to improve health in Africa" – an executive course to support genomics policy

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Singer Peter A

2005-01-01

Full Text Available Abstract Background Africa in the twenty-first century is faced with a heavy burden of disease, combined with ill-equipped medical systems and underdeveloped technological capacity. A major challenge for the international community is to bring scientific and technological advances like genomics to bear on the health priorities of poorer countries. The New Partnership for Africa's Development has identified science and technology as a key platform for Africa's renewal. Recognizing the timeliness of this issue, the African Centre for Technology Studies and the University of Toronto Joint Centre for Bioethics co-organized a course on Genomics and Public Health Policy in Nairobi, Kenya, the first of a series of similar courses to take place in the developing world. This article presents the findings and recommendations that emerged from this process, recommendations which suggest that a regional approach to developing sound science and technology policies is the key to harnessing genome-related biotechnology to improve health and contribute to human development in Africa. Methods The objectives of the course were to familiarize participants with the current status and implications of genomics for health in Africa; to provide frameworks for analyzing and debating the policy and ethical questions; and to begin developing a network across different sectors by sharing perspectives and building relationships. To achieve these goals the course brought together a diverse group of stakeholders from academic research centres, the media, non-governmental, voluntary and legal organizations to stimulate multi-sectoral debate around issues of policy. Topics included scientific advances in genomics innovation systems and business models, international regulatory frameworks, as well as ethical and legal issues. Results Seven main recommendations emerged: establish a network for sustained dialogue among participants; identify champions among politicians; use the

Combining chemical genomics screens in yeast to reveal spectrum of effects of chemical inhibition of sphingolipid biosynthesis

Directory of Open Access Journals (Sweden)

Giaever Guri

2009-01-01

Full Text Available Abstract Background Single genome-wide screens for the effect of altered gene dosage on drug sensitivity in the model organism Saccharomyces cerevisiae provide only a partial picture of the mechanism of action of a drug. Results Using the example of the tumor cell invasion inhibitor dihydromotuporamine C, we show that a more complete picture of drug action can be obtained by combining different chemical genomics approaches – analysis of the sensitivity of ρ0 cells lacking mitochondrial DNA, drug-induced haploinsufficiency, suppression of drug sensitivity by gene overexpression and chemical-genetic synthetic lethality screening using strains deleted of nonessential genes. Killing of yeast by this chemical requires a functional mitochondrial electron-transport chain and cytochrome c heme lyase function. However, we find that it does not require genes associated with programmed cell death in yeast. The chemical also inhibits endocytosis and intracellular vesicle trafficking and interferes with vacuolar acidification in yeast and in human cancer cells. These effects can all be ascribed to inhibition of sphingolipid biosynthesis by dihydromotuporamine C. Conclusion Despite their similar conceptual basis, namely altering drug sensitivity by modifying gene dosage, each of the screening approaches provided a distinct set of information that, when integrated, revealed a more complete picture of the mechanism of action of a drug on cells.

Ethical, legal, and social implications of incorporating genomic information into electronic health records.

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Hazin, Ribhi; Brothers, Kyle B; Malin, Bradley A; Koenig, Barbara A; Sanderson, Saskia C; Rothstein, Mark A; Williams, Marc S; Clayton, Ellen W; Kullo, Iftikhar J

2013-10-01

The inclusion of genomic data in the electronic health record raises important ethical, legal, and social issues. In this article, we highlight these challenges and discuss potential solutions. We provide a brief background on the current state of electronic health records in the context of genomic medicine, discuss the importance of equitable access to genome-enabled electronic health records, and consider the potential use of electronic health records for improving genomic literacy in patients and providers. We highlight the importance of privacy, access, and security, and of determining which genomic information is included in the electronic health record. Finally, we discuss the challenges of reporting incidental findings, storing and reinterpreting genomic data, and nondocumentation and duty to warn family members at potential genetic risk.

Expert paper for the Future Panel on Public Health Genomics

NARCIS (Netherlands)

Stemerding, D.; Krom, A.

2013-01-01

Developments in public health genomics (PHG) hold the promise to be beneficial for individuals and to promote public health. Central to this paper is the idea that given the range of uncertainties and ambiguities related to genome-based information and technologies (GBIT), the responsible

Genomics for public health improvement: relevant international ethical and policy issues around genome-wide association studies and biobanks.

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Pang, T

2013-01-01

Genome-wide association studies and biobanks are at the forefront of genomics research and possess unprecedented potential to improve public health. However, for public health genomics to ultimately fulfill its potential, technological and scientific advances alone are insufficient. Scientists, ethicists, policy makers, and regulators must work closely together with research participants and communities in order to craft an equitable and just ethical framework, and a sustainable environment for effective policies. Such a framework should be a 'hybrid' form which balances equity and solidarity with entrepreneurship and scientific advances. A good balance between research and policy on one hand, and privacy, protection and trust on the other is the key for public health improvement based on advances in genomics science. Copyright © 2013 S. Karger AG, Basel.

Genome-wide Escherichia coli stress response and improved tolerance towards industrially relevant chemicals

DEFF Research Database (Denmark)

Rau, Martin Holm; Calero Valdayo, Patricia; Lennen, Rebecca

2016-01-01

Economically viable biobased production of bulk chemicals and biofuels typically requires high product titers. During microbial bioconversion this often leads to product toxicity, and tolerance is therefore a critical element in the engineering of production strains. Here, a systems biology...... approach was employed to understand the chemical stress response of Escherichia coli, including a genome-wide screen for mutants with increased fitness during chemical stress. Twelve chemicals with significant production potential were selected, consisting of organic solvent-like chemicals (butanol......, hydroxy-γ-butyrolactone, 1,4-butanediol, furfural), organic acids (acetate, itaconic acid, levulinic acid, succinic acid), amino acids (serine, threonine) and membrane-intercalating chemicals (decanoic acid, geraniol). The transcriptional response towards these chemicals revealed large overlaps...

Stakeholder engagement: a key component of integrating genomic information into electronic health records.

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Hartzler, Andrea; McCarty, Catherine A; Rasmussen, Luke V; Williams, Marc S; Brilliant, Murray; Bowton, Erica A; Clayton, Ellen Wright; Faucett, William A; Ferryman, Kadija; Field, Julie R; Fullerton, Stephanie M; Horowitz, Carol R; Koenig, Barbara A; McCormick, Jennifer B; Ralston, James D; Sanderson, Saskia C; Smith, Maureen E; Trinidad, Susan Brown

2013-10-01

Integrating genomic information into clinical care and the electronic health record can facilitate personalized medicine through genetically guided clinical decision support. Stakeholder involvement is critical to the success of these implementation efforts. Prior work on implementation of clinical information systems provides broad guidance to inform effective engagement strategies. We add to this evidence-based recommendations that are specific to issues at the intersection of genomics and the electronic health record. We describe stakeholder engagement strategies employed by the Electronic Medical Records and Genomics Network, a national consortium of US research institutions funded by the National Human Genome Research Institute to develop, disseminate, and apply approaches that combine genomic and electronic health record data. Through select examples drawn from sites of the Electronic Medical Records and Genomics Network, we illustrate a continuum of engagement strategies to inform genomic integration into commercial and homegrown electronic health records across a range of health-care settings. We frame engagement as activities to consult, involve, and partner with key stakeholder groups throughout specific phases of health information technology implementation. Our aim is to provide insights into engagement strategies to guide genomic integration based on our unique network experiences and lessons learned within the broader context of implementation research in biomedical informatics. On the basis of our collective experience, we describe key stakeholder practices, challenges, and considerations for successful genomic integration to support personalized medicine.

The ethical introduction of genome-based information and technologies into public health.

Science.gov (United States)

Howard, H C; Swinnen, E; Douw, K; Vondeling, H; Cassiman, J-J; Cambon-Thomsen, A; Borry, P

2013-01-01

With the human genome project running from 1989 until its completion in 2003, and the incredible advances in sequencing technology and in bioinformatics during the last decade, there has been a shift towards an increase focus on studying common complex disorders which develop due to the interplay of many different genes as well as environmental factors. Although some susceptibility genes have been identified in some populations for disorders such as cancer, diabetes and cardiovascular diseases, the integration of this information into the health care system has proven to be much more problematic than for single gene disorders. Furthermore, with the 1000$ genome supposedly just around the corner, and whole genome sequencing gradually being integrated into research protocols as well as in the clinical context, there is a strong push for the uptake of additional genomic testing. Indeed, the advent of public health genomics, wherein genomics would be integrated in all aspects of health care and public health, should be taken seriously. Although laudable, these advances also bring with them a slew of ethical and social issues that challenge the normative frameworks used in clinical genetics until now. With this in mind, we highlight herein 5 principles that are used as a primer to discuss the ethical introduction of genome-based information and genome-based technologies into public health. Copyright © 2013 S. Karger AG, Basel.

A plant-based chemical genomics screen for the identification of flowering inducers.

Science.gov (United States)

Fiers, Martijn; Hoogenboom, Jorin; Brunazzi, Alice; Wennekes, Tom; Angenent, Gerco C; Immink, Richard G H

2017-01-01

Floral timing is a carefully regulated process, in which the plant determines the optimal moment to switch from the vegetative to reproductive phase. While there are numerous genes known that control flowering time, little information is available on chemical compounds that are able to influence this process. We aimed to discover novel compounds that are able to induce flowering in the model plant Arabidopsis. For this purpose we developed a plant-based screening platform that can be used in a chemical genomics study. Here we describe the set-up of the screening platform and various issues and pitfalls that need to be addressed in order to perform a chemical genomics screening on Arabidopsis plantlets. We describe the choice for a molecular marker, in combination with a sensitive reporter that's active in plants and is sufficiently sensitive for detection. In this particular screen, the firefly Luciferase marker was used, fused to the regulatory sequences of the floral meristem identity gene APETALA1 (AP1) , which is an early marker for flowering. Using this screening platform almost 9000 compounds were screened, in triplicate, in 96-well plates at a concentration of 25 µM. One of the identified potential flowering inducing compounds was studied in more detail and named Flowering1 (F1). F1 turned out to be an analogue of the plant hormone Salicylic acid (SA) and appeared to be more potent than SA in the induction of flowering. The effect could be confirmed by watering Arabidopsis plants with SA or F1, in which F1 gave a significant reduction in time to flowering in comparison to SA treatment or the control. In this study a chemical genomics screening platform was developed to discover compounds that can induce flowering in Arabidopsis. This platform was used successfully, to identify a compound that can speed-up flowering in Arabidopsis.

Conservation and divergence of chemical defense system in the tunicate Oikopleura dioica revealed by genome wide response to two xenobiotics

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Yadetie Fekadu

2012-02-01

Full Text Available Abstract Background Animals have developed extensive mechanisms of response to xenobiotic chemical attacks. Although recent genome surveys have suggested a broad conservation of the chemical defensome across metazoans, global gene expression responses to xenobiotics have not been well investigated in most invertebrates. Here, we performed genome survey for key defensome genes in Oikopleura dioica genome, and explored genome-wide gene expression using high density tiling arrays with over 2 million probes, in response to two model xenobiotic chemicals - the carcinogenic polycyclic aromatic hydrocarbon benzo[a]pyrene (BaP the pharmaceutical compound Clofibrate (Clo. Results Oikopleura genome surveys for key genes of the chemical defensome suggested a reduced repertoire. Not more than 23 cytochrome P450 (CYP genes could be identified, and neither CYP1 family genes nor their transcriptional activator AhR was detected. These two genes were present in deuterostome ancestors. As in vertebrates, the genotoxic compound BaP induced xenobiotic biotransformation and oxidative stress responsive genes. Notable exceptions were genes of the aryl hydrocarbon receptor (AhR signaling pathway. Clo also affected the expression of many biotransformation genes and markedly repressed genes involved in energy metabolism and muscle contraction pathways. Conclusions Oikopleura has the smallest number of CYP genes among sequenced animal genomes and lacks the AhR signaling pathway. However it appears to have basic xenobiotic inducible biotransformation genes such as a conserved genotoxic stress response gene set. Our genome survey and expression study does not support a role of AhR signaling pathway in the chemical defense of metazoans prior to the emergence of vertebrates.

Chemical Risk Assessment: Traditional vs Public Health ...

Science.gov (United States)

Preventing adverse health impacts from exposures to environmental chemicals is fundamental to protecting individual and public health. When done efficiently and properly, chemical risk assessment enables risk management actions that minimize the incidence and impacts of environmentally-induced diseases related to chemical exposure. However, traditional chemical risk assessment is faced with multiple challenges with respect to predicting and preventing disease in human populations, and epidemiological studies increasingly report observations of adverse health effects at exposure levels predicted from animal studies to be safe for humans. This discordance reinforces concerns about the adequacy of contemporary risk assessment practices (Birnbaum, Burke, & Jones, 2016) for protecting public health. It is becoming clear that to protect public health more effectively, future risk assessments will need to use the full range of available data, draw on innovative methods to integrate diverse data streams, and consider health endpoints that also reflect the range of subtle effects and morbidities observed in human populations. Given these factors, there is a need to reframe chemical risk assessment to be more clearly aligned with the public health goal of minimizing environmental exposures associated with disease. Preventing adverse health impacts from exposures to environmental chemicals is fundamental to protecting individual and public health. Chemical risk assessments

Genetics/genomics education for nongenetic health professionals: a systematic literature review.

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Talwar, Divya; Tseng, Tung-Sung; Foster, Margaret; Xu, Lei; Chen, Lei-Shih

2017-07-01

The completion of the Human Genome Project has enhanced avenues for disease prevention, diagnosis, and management. Owing to the shortage of genetic professionals, genetics/genomics training has been provided to nongenetic health professionals for years to establish their genomic competencies. We conducted a systematic literature review to summarize and evaluate the existing genetics/genomics education programs for nongenetic health professionals. Five electronic databases were searched from January 1990 to June 2016. Forty-four studies met our inclusion criteria. There was a growing publication trend. Program participants were mainly physicians and nurses. The curricula, which were most commonly provided face to face, included basic genetics; applied genetics/genomics; ethical, legal, and social implications of genetics/genomics; and/or genomic competencies/recommendations in particular professional fields. Only one-third of the curricula were theory-based. The majority of studies adopted a pre-/post-test design and lacked follow-up data collection. Nearly all studies reported participants' improvements in one or more of the following areas: knowledge, attitudes, skills, intention, self-efficacy, comfort level, and practice. However, most studies did not report participants' age, ethnicity, years of clinical practice, data validity, and data reliability. Many genetics/genomics education programs for nongenetic health professionals exist. Nevertheless, enhancement in methodological quality is needed to strengthen education initiatives.Genet Med advance online publication 20 October 2016.

Reflections from Turkish Public Health Genomics Task Force

Directory of Open Access Journals (Sweden)

Bayram Serdar Savas

2006-12-01

Full Text Available

Dear Sirs,

The forth phase of the epidemiological and demographic transition has brought populations to a lower fertility status with extended life expectancy.The diseases of this phase are chronic and complex diseases, which mainly stem from the complex interaction of the human genome with life style factors. Cardiovascular and cerebrovascular diseases, cancers, diabetes and osteoporosis are among major chronic and complex diseases,which account for approximately 86% of all deaths and 77% of the burden of disease in Europe (Preventing chronic diseases: a vital investment. Geneva,World Health Organization, 2005.

The way we view health and disease from the perspective of chronic and complex diseases, the main determinants of health - including those that are biological and social, is illustrated in Figure 1. The strong interaction of biological and genetic factors with life style factors in the development of chronic and complex diseases has brought us to a new understanding of ‘genetics’, where genetics is not only related to the study of rare hereditary disorders, as understood in ‘conventional’ medical genetics.As science reveals more about the genetic basis of these common diseases, genetics and genomics are increasingly becoming a part of daily practice in various branches of medicine.At this point,new issues and problems arise related to various aspects of this new potential practice; such as the implications for nutrigenetics and pharmacogenetics; the clinical utility and validity of genetic tests; as well as the ethical, legal and social aspects of public health genomics.

 Public Health Genomics European Network (PHGEN, an EU project that runs from January 2006 to December 2008, aims to deal with these issues in the European context.This networking exercise covers all EU Member States, Applicant Countries and EFTA-EEA (European Free Trade Association-European Economic Area countries.

Use of Modern Chemical Protein Synthesis and Advanced Fluorescent Assay Techniques to Experimentally Validate the Functional Annotation of Microbial Genomes

Energy Technology Data Exchange (ETDEWEB)

Kent, Stephen [University of Chicago

2012-07-20

The objective of this research program was to prototype methods for the chemical synthesis of predicted protein molecules in annotated microbial genomes. High throughput chemical methods were to be used to make large numbers of predicted proteins and protein domains, based on microbial genome sequences. Microscale chemical synthesis methods for the parallel preparation of peptide-thioester building blocks were developed; these peptide segments are used for the parallel chemical synthesis of proteins and protein domains. Ultimately, it is envisaged that these synthetic molecules would be ‘printed’ in spatially addressable arrays. The unique ability of total synthesis to precision label protein molecules with dyes and with chemical or biochemical ‘tags’ can be used to facilitate novel assay technologies adapted from state-of-the art single molecule fluorescence detection techniques. In the future, in conjunction with modern laboratory automation this integrated set of techniques will enable high throughput experimental validation of the functional annotation of microbial genomes.

Integrating cancer genomic data into electronic health records

Directory of Open Access Journals (Sweden)

Jeremy L. Warner

2016-10-01

Full Text Available Abstract The rise of genomically targeted therapies and immunotherapy has revolutionized the practice of oncology in the last 10–15 years. At the same time, new technologies and the electronic health record (EHR in particular have permeated the oncology clinic. Initially designed as billing and clinical documentation systems, EHR systems have not anticipated the complexity and variety of genomic information that needs to be reviewed, interpreted, and acted upon on a daily basis. Improved integration of cancer genomic data with EHR systems will help guide clinician decision making, support secondary uses, and ultimately improve patient care within oncology clinics. Some of the key factors relating to the challenge of integrating cancer genomic data into EHRs include: the bioinformatics pipelines that translate raw genomic data into meaningful, actionable results; the role of human curation in the interpretation of variant calls; and the need for consistent standards with regard to genomic and clinical data. Several emerging paradigms for integration are discussed in this review, including: non-standardized efforts between individual institutions and genomic testing laboratories; “middleware” products that portray genomic information, albeit outside of the clinical workflow; and application programming interfaces that have the potential to work within clinical workflow. The critical need for clinical-genomic knowledge bases, which can be independent or integrated into the aforementioned solutions, is also discussed.

Genomic analysis of thermophilic Bacillus coagulans strains: efficient producers for platform bio-chemicals.

Science.gov (United States)

Su, Fei; Xu, Ping

2014-01-29

Microbial strains with high substrate efficiency and excellent environmental tolerance are urgently needed for the production of platform bio-chemicals. Bacillus coagulans has these merits; however, little genetic information is available about this species. Here, we determined the genome sequences of five B. coagulans strains, and used a comparative genomic approach to reconstruct the central carbon metabolism of this species to explain their fermentation features. A novel xylose isomerase in the xylose utilization pathway was identified in these strains. Based on a genome-wide positive selection scan, the selection pressure on amino acid metabolism may have played a significant role in the thermal adaptation. We also researched the immune systems of B. coagulans strains, which provide them with acquired resistance to phages and mobile genetic elements. Our genomic analysis provides comprehensive insights into the genetic characteristics of B. coagulans and paves the way for improving and extending the uses of this species.

Ethical, legal, and social issues in the translation of genomics into health care.

Science.gov (United States)

Badzek, Laurie; Henaghan, Mark; Turner, Martha; Monsen, Rita

2013-03-01

The rapid continuous feed of new information from scientific discoveries related to the human genome makes translation and incorporation of information into the clinical setting difficult and creates ethical, legal, and social challenges for providers. This article overviews some of the legal and ethical foundations that guide our response to current complex issues in health care associated with the impact of scientific discoveries related to the human genome. Overlapping ethical, legal, and social implications impact nurses and other healthcare professionals as they seek to identify and translate into practice important information related to new genomic scientific knowledge. Ethical and legal foundations such as professional codes, human dignity, and human rights provide the framework for understanding highly complex genomic issues. Ethical, legal, and social concerns of the health provider in the translation of genomic knowledge into practice including minimizing harms, maximizing benefits, transparency, confidentiality, and informed consent are described. Additionally, nursing professional competencies related to ethical, legal, and social issues in the translation of genomics into health care are discussed. Ethical, legal, and social considerations in new genomic discovery necessitate that healthcare professionals have knowledge and competence to respond to complex genomic issues and provide appropriate information and care to patients, families, and communities. Understanding the ethical, legal, and social issues in the translation of genomic information into practice is essential to provide patients, families, and communities with competent, safe, effective health care. © 2013 Sigma Theta Tau International.

Genomic information as a behavioral health intervention: can it work?

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Bloss, Cinnamon S; Madlensky, Lisa; Schork, Nicholas J; Topol, Eric J

2011-01-01

Individuals can now obtain their personal genomic information via direct-to-consumer genetic testing, but what, if any, impact will this have on their lifestyle and health? A recent longitudinal cohort study of individuals who underwent consumer genome scanning found minimal impacts of testing on risk-reducing lifestyle behaviors, such as diet and exercise. These results raise an important question: is personal genomic information likely to beneficially impact public health through motivation of lifestyle behavioral change? In this article, we review the literature on lifestyle behavioral change in response to genetic testing for common disease susceptibility variants. We find that only a few studies have been carried out, and that those that have been done have yielded little evidence to suggest that the mere provision of genetic information alone results in widespread changes in lifestyle health behaviors. We suggest that further study of this issue is needed, in particular studies that examine response to multiplex testing for multiple genetic markers and conditions. This will be critical as we anticipate the wide availability of whole-genome sequencing and more comprehensive phenotyping of individuals. We also note that while simple communication of genomic information and disease susceptibility may be sufficient to catalyze lifestyle changes in some highly motivated groups of individuals, for others, additional strategies may be required to prompt changes, including more sophisticated means of risk communication (e.g., in the context of social norm feedback) either alone or in combination with other promising interventions (e.g., real-time wireless health monitoring devices). PMID:22199991

The Contribution of Health Technology Assessment, Health Needs Assessment, and Health Impact Assessment to the Assessment and Translation of Technologies in the Field of Public Health Genomics

DEFF Research Database (Denmark)

Rosenkotter, N.; Vondeling, H.; Blancquaert, I.

2011-01-01

contribute to the systematic translation and assessment of genomic health applications by focussing at population level and on public health policy making. It is shown to what extent HTA, HNA and HIA contribute to translational research by using the continuum of translational research (T1-T4) in genomic...... into the impact on public health and health care practice of those technologies that are actually introduced. This paper aims to give an overview of the major assessment instruments in public health [ health technology assessment (HTA), health needs assessment (HNA) and health impact assessment (HIA)] which could...... medicine as an analytic framework. The selected assessment methodologies predominantly cover 2 to 4 phases within the T1-T4 system. HTA delivers the most complete set of methodologies when assessing health applications. HNA can be used to prioritize areas where genomic health applications are needed...

Analysis of Whole-Genome Data in a Public Health Lab

Centers for Disease Control (CDC) Podcasts

2017-10-17

Dr. Kelly Oakeson, a bioinformatics and genomics research analyst with the Utah Department of Health, discusses bioinformatics and genomics research.  Created: 10/17/2017 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 10/17/2017.

Opening plenary speaker: Human genomics, precision medicine, and advancing human health.

Science.gov (United States)

Green, Eric D

2016-08-01

Starting with the launch of the Human Genome Project in 1990, the past quarter-century has brought spectacular achievements in genomics that dramatically empower the study of human biology and disease. The human genomics enterprise is now in the midst of an important transition, as the growing foundation of genomic knowledge is being used by researchers and clinicians to tackle increasingly complex problems in biomedicine. Of particular prominence is the use of revolutionary new DNA sequencing technologies for generating prodigious amounts of DNA sequence data to elucidate the complexities of genome structure, function, and evolution, as well as to unravel the genomic bases of rare and common diseases. Together, these developments are ushering in the era of genomic medicine. Augmenting the advances in human genomics have been innovations in technologies for measuring environmental and lifestyle information, electronic health records, and data science; together, these provide opportunities of unprecedented scale and scope for investigating the underpinnings of health and disease. To capitalize on these opportunities, U.S. President Barack Obama recently announced a major new research endeavor - the U.S. Precision Medicine Initiative. This bold effort will be framed around several key aims, which include accelerating the use of genomically informed approaches to cancer care, making important policy and regulatory changes, and establishing a large research cohort of >1 million volunteers to facilitate precision medicine research. The latter will include making the partnership with all participants a centerpiece feature in the cohort's design and development. The Precision Medicine Initiative represents a broad-based research program that will allow new approaches for individualized medical care to be rigorously tested, so as to establish a new evidence base for advancing clinical practice and, eventually, human health.

Consumer Health Informatics Aspects of Direct-to-Consumer Personal Genomic Testing.

Science.gov (United States)

Gray, Kathleen; Stephen, Remya; Terrill, Bronwyn; Wilson, Brenda; Middleton, Anna; Tytherleigh, Rigan; Turbitt, Erin; Gaff, Clara; Savard, Jacqueline; Hickerton, Chriselle; Newson, Ainsley; Metcalfe, Sylvia

2017-01-01

This paper uses consumer health informatics as a framework to explore whether and how direct-to-consumer personal genomic testing can be regarded as a form of information which assists consumers to manage their health. It presents findings from qualitative content analysis of web sites that offer testing services, and of transcripts from focus groups conducted as part a study of the Australian public's expectations of personal genomics. Content analysis showed that service offerings have some features of consumer health information but lack consistency. Focus group participants were mostly unfamiliar with the specifics of test reports and related information services. Some of their ideas about aids to knowledge were in line with the benefits described on provider web sites, but some expectations were inflated. People were ambivalent about whether these services would address consumers' health needs, interests and contexts and whether they would support consumers' health self-management decisions and outcomes. There is scope for consumer health informatics approaches to refine the usage and the utility of direct-to-consumer personal genomic testing. Further research may focus on how uptake is affected by consumers' health literacy or by services' engagement with consumers about what they really want.

BYSTANDER EFFECTS GENOMIC INSTABILITY, ADAPTIVE RESPONSE AND CANCER RISK ASSESSMENT FOR RADIAION AND CHEMICAL EXPOSURES

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BYSTANDER EFFECTS, GENOMIC INSTABILITY, ADAPTIVE RESPONSE AND CANCER RISK ASSESSMENT FOR RADIATION AND CHEMICAL EXPOSURESR. Julian PrestonEnvironmental Carcinogenesis Division, U.S. Environmental Protection Agency, Research Triangle Park, N.C. 27711, USAThere ...

The contribution of health technology assessment, health needs assessment, and health impact assessment to the assessment and translation of technologies in the field of public health genomics.

Science.gov (United States)

Rosenkötter, N; Vondeling, H; Blancquaert, I; Mekel, O C L; Kristensen, F B; Brand, A

2011-01-01

The European Union has named genomics as one of the promising research fields for the development of new health technologies. Major concerns with regard to these fields are, on the one hand, the rather slow and limited translation of new knowledge and, on the other hand, missing insights into the impact on public health and health care practice of those technologies that are actually introduced. This paper aims to give an overview of the major assessment instruments in public health [health technology assessment (HTA), health needs assessment (HNA) and health impact assessment (HIA)] which could contribute to the systematic translation and assessment of genomic health applications by focussing at population level and on public health policy making. It is shown to what extent HTA, HNA and HIA contribute to translational research by using the continuum of translational research (T1-T4) in genomic medicine as an analytic framework. The selected assessment methodologies predominantly cover 2 to 4 phases within the T1-T4 system. HTA delivers the most complete set of methodologies when assessing health applications. HNA can be used to prioritize areas where genomic health applications are needed or to identify infrastructural needs. HIA delivers information on the impact of technologies in a wider scope and promotes informed decision making. HTA, HNA and HIA provide a partly overlapping and partly unique set of methodologies and infrastructure for the translation and assessment of genomic health applications. They are broad in scope and go beyond the continuum of T1-T4 translational research regarding policy translation. Copyright © 2010 S. Karger AG, Basel.

Development and evaluation of a genomics training program for community health workers in Texas.

Science.gov (United States)

Chen, Lei-Shih; Zhao, Shixi; Stelzig, Donaji; Dhar, Shweta U; Eble, Tanya; Yeh, Yu-Chen; Kwok, Oi-Man

2018-01-04

PurposeGenomics services have the potential to reduce incidence and mortality of diseases by providing individualized, family health history (FHH)-based prevention strategies to clients. These services may benefit from the involvement of community health workers (CHWs) in the provision of FHH-based genomics education and services, as CHWs are frontline public health workers and lay health educators, who share similar ethnicities, languages, socioeconomic statuses, and life experiences with the communities they serve. We developed, implemented, and evaluated the FHH-based genomics training program for CHWs.MethodsThis theory- and evidence-based FHH-focused genomics curriculum was developed by an interdisciplinary team. Full-day workshops in English and Spanish were delivered to 145 Texas CHWs (91.6% were Hispanic/black). Preworkshop, postworkshop, and 3-month follow-up data were collected.ResultsCHWs significantly improved their attitudes, intention, self-efficacy, and knowledge regarding adopting FHH-based genomics into their practice after the workshops. At 3-month follow-up, these scores remained higher, and there was a significant increase in CHWs' genomics practices.ConclusionThis FHH-based genomics training successfully educated Texas CHWs, and the outcomes were promising. Dissemination of training to CHWs in and outside of Texas is needed to promote better access to and delivery of personalized genomics services for the lay and underserved communities.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.236.

Making Personalized Health Care Even More Personalized: Insights From Activities of the IOM Genomics Roundtable.

Science.gov (United States)

David, Sean P; Johnson, Samuel G; Berger, Adam C; Feero, W Gregory; Terry, Sharon F; Green, Larry A; Phillips, Robert L; Ginsburg, Geoffrey S

2015-01-01

Genomic research has generated much new knowledge into mechanisms of human disease, with the potential to catalyze novel drug discovery and development, prenatal and neonatal screening, clinical pharmacogenomics, more sensitive risk prediction, and enhanced diagnostics. Genomic medicine, however, has been limited by critical evidence gaps, especially those related to clinical utility and applicability to diverse populations. Genomic medicine may have the greatest impact on health care if it is integrated into primary care, where most health care is received and where evidence supports the value of personalized medicine grounded in continuous healing relationships. Redesigned primary care is the most relevant setting for clinically useful genomic medicine research. Taking insights gained from the activities of the Institute of Medicine (IOM) Roundtable on Translating Genomic-Based Research for Health, we apply lessons learned from the patient-centered medical home national experience to implement genomic medicine in a patient-centered, learning health care system. © 2015 Annals of Family Medicine, Inc.

Causes of genome instability

DEFF Research Database (Denmark)

Langie, Sabine A S; Koppen, Gudrun; Desaulniers, Daniel

2015-01-01

function, chromosome segregation, telomere length). The purpose of this review is to describe the crucial aspects of genome instability, to outline the ways in which environmental chemicals can affect this cancer hallmark and to identify candidate chemicals for further study. The overall aim is to make......Genome instability is a prerequisite for the development of cancer. It occurs when genome maintenance systems fail to safeguard the genome's integrity, whether as a consequence of inherited defects or induced via exposure to environmental agents (chemicals, biological agents and radiation). Thus...

The Problem of Assessment for Radionuclide and Chemical Hazard to People Heredity and Health

International Nuclear Information System (INIS)

Suskov, Igor I.; Glouchtchenko, Alexandre I.

2003-01-01

In the 21th century the assessment of the hazard to human heredity and health from the radionuclide and chemical environmental pollution becomes of prime social importance since it is related to the problems of utilization of great amounts of radioactive and chemical wastes, spent nuclear fuel, weapon plutonium, nuclear reactors and emergency discharges of isotopes which in total is higher than 1 billion Ci. Long-term cytogenetic monitoring of nuclear and chemical plant workers, local human populations of radioactive waste areas and radionuclide polluted territories has revealed that the level and spectrum of induced chromosome aberrations in blood lymphocytes correlate with the type, dose and duration of exposure. There is very strong evidence that the yield of chromosome aberrations (Y) is related to the dose (D) by the equation: Y=Ao+aD+bD 2 . Therefore the radiation/radionuclide risk (R(D) ) will correspond to a absorbed dose and its aberrational/mutational consequences ('doubling dose' coefficient). Increased levels of chromosome aberrations in the human body very often precede the development of several syndromes: chronic fatigue, secondary immune deficiency, early aging, reproductive dysfunction, oncological diseases and etc. The increased levels of chromosome aberrations in blood lymphocytes can serve as objective bio indicators of radiation and chemical risk to human heredity and health. Thus, monitoring of chromosome and genome aberrations must be of strategical importance in the system of governmental service for minimization of radionuclide and chemical hazard to human heredity and health the necessity of organization of which has already matured. The above mentioned confirms the necessity of founding a European network for ecological-genetic monitoring with 'Internet' translation of information on radionuclide composition and chromosome aberration levels in people, inhabiting polluted areas

Fueling the future with fungal genomics

Energy Technology Data Exchange (ETDEWEB)

Grigoriev, Igor V.; Cullen, Dan; Goodwin, Steve X.; Hibbett, David; Jeffries, Thomas W.; Kubicek, Christian P.; Kuske, Cheryl R.; Magnuson, Jon K.; Martin, Francis; Spatafora, Joe W.; Tsang, Adrian; Baker, Scott E.

2011-07-25

Fungi play important roles across the range of current and future biofuel production processes. From crop/feedstock health to plant biomass saccharification, enzyme production to bioprocesses for producing ethanol, higher alcohols or future hydrocarbon biofuels, fungi are involved. Research and development are underway to understand the underlying biological processes and improve them to make efficient on an industrial scale. Genomics is the foundation of the systems biology approach that is being used to accelerate the research and development efforts across the spectrum of topic areas that impact biofuels production. In this review, we discuss past, current and future advances made possible by genomic analysis of the fungi that impact plant/feedstock health, degradation of lignocellulosic biomass and fermentation of sugars to ethanol, hydrocarbon biofuels and renewable chemicals.

Clinical genomics in the world of the electronic health record.

Science.gov (United States)

Marsolo, Keith; Spooner, S Andrew

2013-10-01

The widespread adoption of electronic health records presents a number of benefits to the field of clinical genomics. They include the ability to return results to the practitioner, to use genetic findings in clinical decision support, and to have data collected in the electronic health record that serve as a source of phenotypic information for analysis purposes. Not all electronic health records are created equal, however. They differ in their features, capabilities, and ease of use. Therefore, to understand the potential of the electronic health record, it is first necessary to understand its capabilities and the impact that implementation strategy has on usability. Specifically, we focus on the following areas: (i) how the electronic health record is used to capture data in clinical practice settings; (ii) how the implementation and configuration of the electronic health record affect the quality and availability of data; (iii) the management of clinical genetic test results and the feasibility of electronic health record integration; and (iv) the challenges of implementing an electronic health record in a research-intensive environment. This is followed by a discussion of the minimum functional requirements that an electronic health record must meet to enable the satisfactory integration of genomic results as well as the open issues that remain.

Health psychology and translational genomic research: bringing innovation to cancer-related behavioral interventions.

Science.gov (United States)

McBride, Colleen M; Birmingham, Wendy C; Kinney, Anita Y

2015-01-01

The past decade has witnessed rapid advances in human genome sequencing technology and in the understanding of the role of genetic and epigenetic alterations in cancer development. These advances have raised hopes that such knowledge could lead to improvements in behavioral risk reduction interventions, tailored screening recommendations, and treatment matching that together could accelerate the war on cancer. Despite this optimism, translation of genomic discovery for clinical and public health applications has moved relatively slowly. To date, health psychologists and the behavioral sciences generally have played a very limited role in translation research. In this report we discuss what we mean by genomic translational research and consider the social forces that have slowed translational research, including normative assumptions that translation research must occur downstream of basic science, thus relegating health psychology and other behavioral sciences to a distal role. We then outline two broad priority areas in cancer prevention, detection, and treatment where evidence will be needed to guide evaluation and implementation of personalized genomics: (a) effective communication, to broaden dissemination of genomic discovery, including patient-provider communication and familial communication, and (b) the need to improve the motivational impact of behavior change interventions, including those aimed at altering lifestyle choices and those focusing on decision making regarding targeted cancer treatments and chemopreventive adherence. We further discuss the role that health psychologists can play in interdisciplinary teams to shape translational research priorities and to evaluate the utility of emerging genomic discoveries for cancer prevention and control. PsycINFO Database Record (c) 2015 APA, all rights reserved.

Stakeholder consultation insights on the future of genomics at the clinical-public health interface.

Science.gov (United States)

Modell, Stephen M; Kardia, Sharon L R; Citrin, Toby

2014-05-01

In summer 2011, the Centers for Disease Control and Prevention Office of Public Health Genomics conducted a stakeholder consultation, administered by the University of Michigan Center for Public Health and Community Genomics, and Genetic Alliance, to recommend priorities for public health genomics from 2012 through 2017. Sixty-two responses from health professionals, administrators, and members of the public were pooled with 2 sets of key informant interviews and 3 discussion groups. NVivo 9 and manual methods were used to organize themes. This review offers an interim analysis of progress with respect to the final recommendations, which demonstrated a strong interest in moving genomic discoveries toward implementation and comparative effectiveness (T3/T4) translational research. A translational research continuum exists with familial breast and ovarian cancer at one end and prostate cancer at the other. Cascade screening for inherited arrhythmia syndromes and hypercholesterolemia lags stakeholder recommendations in the United States but not in Europe; implementation of health service-based screening for Lynch syndrome, and integration into electronic health information systems, is on pace with the recommended timeline. A number of options exist to address deficits in the funding of translational research, particularly for oncogenomic gene expression profiling. The goal of personalized risk assessment necessitates both research progress (eg, in whole genome sequencing, as well as provider education in the differentiation of low- vs high-risk status. The public health approach supports an emphasis on genetic test validation while endorsing clinical translation research inclusion of an environmental and population-based perspective. Copyright © 2014 Mosby, Inc. All rights reserved.

Fueling the Future with Fungal Genomics

Energy Technology Data Exchange (ETDEWEB)

Grigoriev, Igor V.; Cullen, Daniel; Hibbett, David; Goodwin, Stephen B.; Jeffries, Thomas W.; Kubicek, Christian P.; Kuske, Cheryl; Magnuson, Jon K.; Martin, Francis; Spatafora, Joey; Tsang, Adrian; Baker, Scott E.

2011-04-29

Fungi play important roles across the range of current and future biofuel production processes. From crop/feedstock health to plant biomass saccharification, enzyme production to bioprocesses for producing ethanol, higher alcohols or future hydrocarbon biofuels, fungi are involved. Research and development are underway to understand the underlying biological processes and improve them to make bioenergy production efficient on an industrial scale. Genomics is the foundation of the systems biology approach that is being used to accelerate the research and development efforts across the spectrum of topic areas that impact biofuels production. In this review, we discuss past, current and future advances made possible by genomic analyses of the fungi that impact plant/feedstock health, degradation of lignocellulosic biomass and fermentation of sugars to ethanol, hydrocarbon biofuels and renewable chemicals.

Genomics to benefit livestock production: improving animal health

Directory of Open Access Journals (Sweden)

Graham Stuart Plastow

2016-06-01

Full Text Available ABSTRACT The primary principle underlying the application of genomics is that it has the most value for difficult and expensive to measure traits. These traits will differ between species and probably also between markets. Maintenance of health will be one of the biggest challenges for efficient livestock production in the next few decades. This challenge will only increase in the face of demand for animal protein, resistance to existing drugs, and the pressure to reduce the use of antibiotics in agriculture. There is probably genetic variation in susceptibility for all diseases but little has been done to make use of this variation to date. In part this is because it is very difficult as well as expensive to measure this variation. This suggests that genomics should provide one of the ways of tackling the challenge of improving animal health. This paper will discuss the concepts of resistance, variation in susceptibility, and resilience; provide examples and present some recent results in cattle and pigs; and briefly discuss the application of gene editing in relation to disease resistance.

Human Genome Epidemiology : A scientific foundation for using genetic information to improve health and prevent disease

Directory of Open Access Journals (Sweden)

Stefania Boccia

2005-03-01

Full Text Available

Human health is determined by the interplay of genetic factors and the environment. In this context the recent advances in human genomics are expected to play a central role in medicine and public health by providing genetic information for disease prediction and prevention.

After the completion of the human genome sequencing, a fundamental step will be represented by the translation of these discoveries into meaningful actions to improve health and prevent diseases, and the field of epidemiology plays a central role in this effort. These are some of the issues addressed by Human Genome Epidemiology –A scientific foundation for using genetic information to improve health and prevent disease, a volume edited by Prof. M. Khoury, Prof. J. Little, Prof.W. Burke and published by Oxford university Press 2004.

This book describes the important role that epidemiological methods play in the continuum from gene discovery to the development and application of genetic tests. The Authors calls this continuum human genome epidemiology (HuGE to denote an evolving field of inquiry that uses systematic applications of epidemiological methods to assess the impact of human genetic variation on health and disease.

The book is divided into four sections and it is structured to allow readers to proceed systematically from the fundamentals of genome technology and discovery, to the epidemiological approaches, to gene characterisation, to the evaluation of genetic tests and their use in health services and public health.

Environmentally-induced malignancies: An in vivo model to evaluate the health impact of chemicals in mixed waste. 1997 annual progress report

International Nuclear Information System (INIS)

Pallavicini, M.

1997-01-01

'Occupational or environmental exposure to organic ligands, solvents, fuel hydrocarbons, and polychlorinated biphenyls is linked to increased risk of developing leukemia, a blood cancer. The long term health effects of exposure to complex mixtures of chemicals and radionuclides are of particular concern because their biologic effects may synergize to increase risk of malignancy. Increased understanding of steps in the progression pathway of a normal cell to a cancer cell is important for biomonitoring, risk assessment and intervention in exposed individuals. Leukemias are characterized by multiple genetic aberrations. Accumulation of multiple genomic changes may reflect genomic instability in the affected ceils. Thus agents that induce DNA damage or genomic instability may increase accumulation of genomic alterations, thereby predisposing cells to transformation. However, not all DNA damaging agents predispose to transformation. Other factors such as genetic susceptibility, cell and tissue response to genotoxicity and cytotoxicity, DNA repair, etc. will impact malignant progression. The author proposed a progression model (Figure 1) of environmentally-induced leukemia that can be evaluated using mouse models.'

Health risk assessment for chemical exposures of military interest

NARCIS (Netherlands)

Langenberg, J.P.; Polhuijs, M.; Sijbranda, T.

2016-01-01

Participation in military operations is accompanied by health hazards resulting from exposure to chemical substances from natural and anthropogenic sources. Historically, focus on toxicological risks has been on the health effects of exposure to chemical warfare agents (CW A). In recent years the

Radiation, chemicals, and occupational health research

International Nuclear Information System (INIS)

Turner, J.E.

1984-01-01

Radiation protection and its interplay with physical research programs are described. Differences and similarities between problems in health protection for chemicals and for radiation are discussed. The importance of dosimetry in radiation work and its relevance to chemicals are cited. A collaborative program between physical and biological scientists on the toxicity of metals is briefly described. It serves as an example of new research directed toward the development of fundamental concepts and principles as a basis for understanding and controlling occupational and population exposures to chemicals. 12 references, 4 figures

Genome editing in pluripotent stem cells: research and therapeutic applications

Energy Technology Data Exchange (ETDEWEB)

Deleidi, Michela, E-mail: michela.deleidi@dzne.de [German Center for Neurodegenerative Diseases (DZNE) Tübingen within the Helmholtz Association, Tübingen (Germany); Hertie Institute for Clinical Brain Research, University of Tübingen (Germany); Yu, Cong [Department of Microbiology and Immunology, School of Medicine and Biomedical Sciences, University at Buffalo, New York (United States)

2016-05-06

Recent progress in human pluripotent stem cell (hPSC) and genome editing technologies has opened up new avenues for the investigation of human biology in health and disease as well as the development of therapeutic applications. Gene editing approaches with programmable nucleases have been successfully established in hPSCs and applied to study gene function, develop novel animal models and perform genetic and chemical screens. Several studies now show the successful editing of disease-linked alleles in somatic and patient-derived induced pluripotent stem cells (iPSCs) as well as in animal models. Importantly, initial clinical trials have shown the safety of programmable nucleases for ex vivo somatic gene therapy. In this context, the unlimited proliferation potential and the pluripotent properties of iPSCs may offer advantages for gene targeting approaches. However, many technical and safety issues still need to be addressed before genome-edited iPSCs are translated into the clinical setting. Here, we provide an overview of the available genome editing systems and discuss opportunities and perspectives for their application in basic research and clinical practice, with a particular focus on hPSC based research and gene therapy approaches. Finally, we discuss recent research on human germline genome editing and its social and ethical implications. - Highlights: • Programmable nucleases have proven efficient and specific for genome editing in human pluripotent stem cells (hPSCs). • Genome edited hPSCs can be employed to study gene function in health and disease as well as drug and chemical screens. • Genome edited hPSCs hold great promise for ex vivo gene therapy approaches. • Technical and safety issues should be first addressed to advance the clinical use of gene-edited hPSCs.

Genome editing in pluripotent stem cells: research and therapeutic applications

International Nuclear Information System (INIS)

Deleidi, Michela; Yu, Cong

2016-01-01

Recent progress in human pluripotent stem cell (hPSC) and genome editing technologies has opened up new avenues for the investigation of human biology in health and disease as well as the development of therapeutic applications. Gene editing approaches with programmable nucleases have been successfully established in hPSCs and applied to study gene function, develop novel animal models and perform genetic and chemical screens. Several studies now show the successful editing of disease-linked alleles in somatic and patient-derived induced pluripotent stem cells (iPSCs) as well as in animal models. Importantly, initial clinical trials have shown the safety of programmable nucleases for ex vivo somatic gene therapy. In this context, the unlimited proliferation potential and the pluripotent properties of iPSCs may offer advantages for gene targeting approaches. However, many technical and safety issues still need to be addressed before genome-edited iPSCs are translated into the clinical setting. Here, we provide an overview of the available genome editing systems and discuss opportunities and perspectives for their application in basic research and clinical practice, with a particular focus on hPSC based research and gene therapy approaches. Finally, we discuss recent research on human germline genome editing and its social and ethical implications. - Highlights: • Programmable nucleases have proven efficient and specific for genome editing in human pluripotent stem cells (hPSCs). • Genome edited hPSCs can be employed to study gene function in health and disease as well as drug and chemical screens. • Genome edited hPSCs hold great promise for ex vivo gene therapy approaches. • Technical and safety issues should be first addressed to advance the clinical use of gene-edited hPSCs.

Environmental Influences on Reproductive Health, the Importance of Chemical Exposures

Science.gov (United States)

Wang, Aolin; Padula, Amy; Sirota, Marina; Woodruff, Tracey J.

2016-01-01

Unstructured Abstract Chemical exposures during pregnancy can have a profound and life-long impact on human health. Due to the omnipresence of chemicals in our daily life, there is continuous contact with chemicals in food, water, air and consumer products. Consequently, human biomonitoring studies show that pregnant women around the globe are exposed to a variety of chemicals. In this review, we provide a summary of current data on maternal and fetal exposure as well as health consequences from these exposures. We review several chemical classes including polychlorinated biphenyls (PCBs), perfluoroalkyl substances (PFAS), polybrominated diphenyl ethers (PBDEs), phenols, phthalates, pesticides, and metals. Additionally, we discuss environmental disparities and vulnerable populations, and future research directions. We conclude by providing some recommendations for prevention of chemical exposure and its adverse reproductive health consequences. PMID:27513554

The Future of Whole-Genome Sequencing for Public Health and the Clinic

OpenAIRE

Allard, Marc W.

2016-01-01

An American Society for Microbiology (ASM) conference titled the Conference on Rapid Next-Generation Sequencing and Bioinformatic Pipelines for Enhanced Molecular Epidemiological Investigation of Pathogens provided a venue for discussing how technologies surrounding whole-genome sequencing (WGS) are advancing microbiology. Several applications in microbial taxonomy, microbial forensics, and genomics for public health pathogen surveillance were presented at the meeting and are reviewed. All of...

Recent advances to address European Union Health Security from cross border chemical health threats.

Science.gov (United States)

Duarte-Davidson, R; Orford, R; Wyke, S; Griffiths, M; Amlôt, R; Chilcott, R

2014-11-01

The European Union (EU) Decision (1082/2013/EU) on serious cross border threats to health was adopted by the European Parliament in November 2013, in recognition of the need to strengthen the capacity of Member States to coordinate the public health response to cross border threats, whether from biological, chemical, environmental events or events which have an unknown origin. Although mechanisms have been in place for years for reporting cross border health threats from communicable diseases, this has not been the case for incidents involving chemicals and/or environmental events. A variety of collaborative EU projects have been funded over the past 10 years through the Health Programme to address gaps in knowledge on health security and to improve resilience and response to major incidents involving chemicals. This paper looks at the EU Health Programme that underpins recent research activities to address gaps in resilience, planning, responding to and recovering from a cross border chemical incident. It also looks at how the outputs from the research programme will contribute to improving public health management of transnational incidents that have the potential to overwhelm national capabilities, putting this into context with the new requirements as the Decision on serious cross border threats to health as well as highlighting areas for future development. Crown Copyright © 2014. Published by Elsevier Ltd. All rights reserved.

Report from the second international symposium on animal genomics for animal health: critical needs, challenges and potential solutions.

Science.gov (United States)

Bishop, Steve C; Lunney, Joan K; Pinard-van der Laan, Marie-Hélène; Gay, Cyril G

2011-06-03

The second International Symposium on Animal Genomics for Animal Health held in Paris, France 31 May-2 June, 2010, assembled more than 140 participants representing research organizations from 40 countries. The symposium included a roundtable discussion on critical needs, challenges and opportunities, and a forward look at the potential applications of animal genomics in animal health research. The aim of the roundtable discussion was to foster a dialogue between scientists working at the cutting edge of animal genomics research and animal health scientists. Importantly, stakeholders were included to provide input on priorities and the potential value of animal genomics to the animal health community. In an effort to facilitate the roundtable discussion, the organizers identified four priority areas to advance the use of genome-enabled technologies in animal health research. Contributions were obtained through open discussions and a questionnaire distributed at the start of the symposium. This report provides the outcome of the roundtable discussion for each of the four priority areas. For each priority, problems are identified, including potential solutions and recommendations. This report captures key points made by symposium participants during the roundtable discussion and serves as a roadmap to steer future research priorities in animal genomics research.

The Arab genome: Health and wealth.

Science.gov (United States)

Zayed, Hatem

2016-11-05

The 22 Arab nations have a unique genetic structure, which reflects both conserved and diverse gene pools due to the prevalent endogamous and consanguineous marriage culture and the long history of admixture among different ethnic subcultures descended from the Asian, European, and African continents. Human genome sequencing has enabled large-scale genomic studies of different populations and has become a powerful tool for studying disease predictions and diagnosis. Despite the importance of the Arab genome for better understanding the dynamics of the human genome, discovering rare genetic variations, and studying early human migration out of Africa, it is poorly represented in human genome databases, such as HapMap and the 1000 Genomes Project. In this review, I demonstrate the significance of sequencing the Arab genome and setting an Arab genome reference(s) for better understanding the molecular pathogenesis of genetic diseases, discovering novel/rare variants, and identifying a meaningful genotype-phenotype correlation for complex diseases. Copyright © 2016. Published by Elsevier B.V.

Genomic research perspectives in Kazakhstan

Directory of Open Access Journals (Sweden)

Ainur Akilzhanova

2014-01-01

Full Text Available Introduction: Technological advancements rapidly propel the field of genome research. Advances in genetics and genomics such as the sequence of the human genome, the human haplotype map, open access databases, cheaper genotyping and chemical genomics, have transformed basic and translational biomedical research. Several projects in the field of genomic and personalized medicine have been conducted at the Center for Life Sciences in Nazarbayev University. The prioritized areas of research include: genomics of multifactorial diseases, cancer genomics, bioinformatics, genetics of infectious diseases and population genomics. At present, DNA-based risk assessment for common complex diseases, application of molecular signatures for cancer diagnosis and prognosis, genome-guided therapy, and dose selection of therapeutic drugs are the important issues in personalized medicine. Results: To further develop genomic and biomedical projects at Center for Life Sciences, the development of bioinformatics research and infrastructure and the establishment of new collaborations in the field are essential. Widespread use of genetic tools will allow the identification of diseases before the onset of clinical symptoms, the individualization of drug treatment, and could induce individual behavioral changes on the basis of calculated disease risk. However, many challenges remain for the successful translation of genomic knowledge and technologies into health advances, such as medicines and diagnostics. It is important to integrate research and education in the fields of genomics, personalized medicine, and bioinformatics, which will be possible with opening of the new Medical Faculty at Nazarbayev University. People in practice and training need to be educated about the key concepts of genomics and engaged so they can effectively apply their knowledge in a matter that will bring the era of genomic medicine to patient care. This requires the development of well

Protein structure similarity clustering (PSSC) and natural product structure as inspiration sources for drug development and chemical genomics

NARCIS (Netherlands)

Dekker, Frank J; Koch, Marcus A; Waldmann, Herbert; Dekker, Frans

Finding small molecules that modulate protein function is of primary importance in drug development and in the emerging field of chemical genomics. To facilitate the identification of such molecules, we developed a novel strategy making use of structural conservatism found in protein domain

How effects of chemicals might differ from those of radiations in giving rise to genetic ill-health in man

International Nuclear Information System (INIS)

Evans, H.J.

1980-01-01

Possible differences between the effects of the two groups of agents are considered. Two types of genetic damage are discussed. The first type involves mutational changes induced in germ cells or germ cell precursors which are then transmitted to the products of conception and to any resultant offspring and their descendants. The second kind is that damage sustained by the genome in somatic cells which is transmitted to daughter cells. Such somatic mutations are not heritable in the familiar sense, but they are transmitted to descendant cells within the body. It is concluded that a greater heterogeneity is expected in mutagenic response to chemical mutagens than to radiations in human populations, that the spectrum of mutations following chemical exposure may be quite different from that following radiation exposure, and that for many chemical agents, and in contrast to ionising radiations, one might expect a greater burden of genetic ill-health due to increased frequencies of mildly deleterious recessive and polygenic mutations. (Auth.)

Germs, genomics and global public health: How can advances in genomic sciences be integrated into public health in the developing world to deal with infectious diseases?

Science.gov (United States)

Pang, T

2009-12-01

Scientific and technological advances derived from the genomics revolution have a central role to play in dealing with continuing infectious disease threats in the developing world caused by emerging and re-emerging pathogens. These techniques, coupled with increasing knowledge of host-pathogen interactions, can assist in the early identification and containment of outbreaks as well as in the development of preventive vaccination and therapeutic interventions, including the urgent need for new antibiotics. However, the effective application of genomics technologies faces key barriers and challenges which occur at three stages: from the research to the products, from the products to individual patients, and, finally, from patients to entire populations. There needs to be an emphasis on research in areas of greatest need, in facilitating the translation of research into interventions and, finally, the effective delivery of such interventions to those in greatest need. Ultimate success will depend on bringing together science, society and policy to develop effective public health implementation strategies to provide health security and health equity for all peoples.

Chemical Mixtures Health Risk Assessment of Environmental Contaminants: Concepts, Methods, Applications

Science.gov (United States)

This problems-based, introductory workshop focuses on methods to assess health risks posed by exposures to chemical mixtures in the environment. Chemical mixtures health risk assessment methods continue to be developed and evolve to address concerns over health risks from multic...

Genomic damage in children accidentally exposed to ionizing radiation

DEFF Research Database (Denmark)

Fucic, A; Brunborg, G; Lasan, R

2007-01-01

During the last decade, our knowledge of the mechanisms by which children respond to exposures to physical and chemical agents present in the environment, has significantly increased. Results of recent projects and programmes focused on children's health underline a specific vulnerability of chil...... and efficient preventive measures, by means of a better knowledge of the early and delayed health effects in children resulting from radiation exposure....... of children to environmental genotoxicants. Environmental research on children predominantly investigates the health effects of air pollution while effects from radiation exposure deserve more attention. The main sources of knowledge on genome damage of children exposed to radiation are studies performed...... after the Chernobyl nuclear plant accident in 1986. The present review presents and discusses data collected from papers analyzing genome damage in children environmentally exposed to ionizing radiation. Overall, the evidence from the studies conducted following the Chernobyl accident, nuclear tests...

Relationships Between Health Literacy and Genomics-Related Knowledge, Self-Efficacy, Perceived Importance, and Communication in a Medically Underserved Population.

Science.gov (United States)

Kaphingst, Kimberly A; Blanchard, Melvin; Milam, Laurel; Pokharel, Manusheela; Elrick, Ashley; Goodman, Melody S

2016-01-01

The increasing importance of genomic information in clinical care heightens the need to examine how individuals understand, value, and communicate about this information. Based on a conceptual framework of genomics-related health literacy, we examined whether health literacy was related to knowledge, self-efficacy, and perceived importance of genetics and family health history (FHH) and communication about FHH in a medically underserved population. The analytic sample was composed of 624 patients at a primary care clinic in a large urban hospital. About half of the participants (47%) had limited health literacy; 55% had no education beyond high school, and 58% were Black. In multivariable models, limited health literacy was associated with lower genetic knowledge (β = -0.55, SE = 0.10, p interval [CI; 0.28, 0.90], p = .020), and greater perceived importance of genetic information (OR = 1.95, 95% CI [1.27, 3.00], p = .0022) but lower perceived importance of FHH information (OR = 0.47, 95% CI [0.26, 0.86], p = .013) and more frequent communication with a doctor about FHH (OR = 2.02, 95% CI [1.27, 3.23], p = .0032). The findings highlight the importance of considering domains of genomics-related health literacy (e.g., knowledge, oral literacy) in developing educational strategies for genomic information. Health literacy research is essential to avoid increasing disparities in information and health outcomes as genomic information reaches more patients.

Confidentiality, privacy, and security of genetic and genomic test information in electronic health records: points to consider.

Science.gov (United States)

McGuire, Amy L; Fisher, Rebecca; Cusenza, Paul; Hudson, Kathy; Rothstein, Mark A; McGraw, Deven; Matteson, Stephen; Glaser, John; Henley, Douglas E

2008-07-01

As clinical genetics evolves, and we embark down the path toward more personalized and effective health care, the amount, detail, and complexity of genetic/genomic test information within the electronic health record will increase. This information should be appropriately protected to secure the trust of patients and to support interoperable electronic health information exchange. This article discusses characteristics of genetic/genomic test information, including predictive capability, immutability, and uniqueness, which should be considered when developing policies about information protection. Issues related to "genetic exceptionalism"; i.e., whether genetic/genomic test information should be treated differently from other medical information for purposes of data access and permissible use, are also considered. These discussions can help guide policy that will facilitate the biological and clinical resource development to support the introduction of this information into health care.

Human Genome Sequencing in Health and Disease

Science.gov (United States)

Gonzaga-Jauregui, Claudia; Lupski, James R.; Gibbs, Richard A.

2013-01-01

Following the “finished,” euchromatic, haploid human reference genome sequence, the rapid development of novel, faster, and cheaper sequencing technologies is making possible the era of personalized human genomics. Personal diploid human genome sequences have been generated, and each has contributed to our better understanding of variation in the human genome. We have consequently begun to appreciate the vastness of individual genetic variation from single nucleotide to structural variants. Translation of genome-scale variation into medically useful information is, however, in its infancy. This review summarizes the initial steps undertaken in clinical implementation of personal genome information, and describes the application of whole-genome and exome sequencing to identify the cause of genetic diseases and to suggest adjuvant therapies. Better analysis tools and a deeper understanding of the biology of our genome are necessary in order to decipher, interpret, and optimize clinical utility of what the variation in the human genome can teach us. Personal genome sequencing may eventually become an instrument of common medical practice, providing information that assists in the formulation of a differential diagnosis. We outline herein some of the remaining challenges. PMID:22248320

Unexplored therapeutic opportunities in the human genome.

Science.gov (United States)

Oprea, Tudor I; Bologa, Cristian G; Brunak, Søren; Campbell, Allen; Gan, Gregory N; Gaulton, Anna; Gomez, Shawn M; Guha, Rajarshi; Hersey, Anne; Holmes, Jayme; Jadhav, Ajit; Jensen, Lars Juhl; Johnson, Gary L; Karlson, Anneli; Leach, Andrew R; Ma'ayan, Avi; Malovannaya, Anna; Mani, Subramani; Mathias, Stephen L; McManus, Michael T; Meehan, Terrence F; von Mering, Christian; Muthas, Daniel; Nguyen, Dac-Trung; Overington, John P; Papadatos, George; Qin, Jun; Reich, Christian; Roth, Bryan L; Schürer, Stephan C; Simeonov, Anton; Sklar, Larry A; Southall, Noel; Tomita, Susumu; Tudose, Ilinca; Ursu, Oleg; Vidovic, Dušica; Waller, Anna; Westergaard, David; Yang, Jeremy J; Zahoránszky-Köhalmi, Gergely

2018-05-01

A large proportion of biomedical research and the development of therapeutics is focused on a small fraction of the human genome. In a strategic effort to map the knowledge gaps around proteins encoded by the human genome and to promote the exploration of currently understudied, but potentially druggable, proteins, the US National Institutes of Health launched the Illuminating the Druggable Genome (IDG) initiative in 2014. In this article, we discuss how the systematic collection and processing of a wide array of genomic, proteomic, chemical and disease-related resource data by the IDG Knowledge Management Center have enabled the development of evidence-based criteria for tracking the target development level (TDL) of human proteins, which indicates a substantial knowledge deficit for approximately one out of three proteins in the human proteome. We then present spotlights on the TDL categories as well as key drug target classes, including G protein-coupled receptors, protein kinases and ion channels, which illustrate the nature of the unexplored opportunities for biomedical research and therapeutic development.

Quantitative Genome-Wide Analysis of Yeast Deletion Strain Sensitivities to Oxidative and Chemical Stress

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Stanley Fields

2006-03-01

Full Text Available Understanding the actions of drugs and toxins in a cell is of critical importance to medicine, yet many of the molecular events involved in chemical resistance are relatively uncharacterized. In order to identify the cellular processes and pathways targeted by chemicals, we took advantage of the haploid Saccharomyces cerevisiae deletion strains (Winzeler et al., 1999. Although ~4800 of the strains are viable, the loss of a gene in a pathway affected by a drug can lead to a synthetic lethal effect in which the combination of a deletion and a normally sublethal dose of a chemical results in loss of viability. WE carried out genome-wide screens to determine quantitative sensitivities of the deletion set to four chemicals: hydrogen peroxide, menadione, ibuprofen and mefloquine. Hydrogen peroxide and menadione induce oxidative stress in the cell, whereas ibuprofen and mefloquine are toxic to yeast by unknown mechanisms. Here we report the sensitivities of 659 deletion strains that are sensitive to one or more of these four compounds, including 163 multichemicalsensitive strains, 394 strains specific to hydrogen peroxide and/or menadione, 47 specific to ibuprofen and 55 specific to mefloquine.We correlate these results with data from other large-scale studies to yield novel insights into cellular function.

Penicillium arizonense, a new, genome sequenced fungal species, reveals a high chemical diversity in secreted metabolites

DEFF Research Database (Denmark)

Grijseels, Sietske; Nielsen, Jens Christian; Randelovic, Milica

2016-01-01

A new soil-borne species belonging to the Penicillium section Canescentia is described, Penicillium arizonense sp. nov. (type strain CBS 141311T = IBT 12289T). The genome was sequenced and assembled into 33.7 Mb containing 12,502 predicted genes. A phylogenetic assessment based on marker genes...... confirmed the grouping of P. arizonense within section Canescentia. Compared to related species, P. arizonense proved to encode a high number of proteins involved in carbohydrate metabolism, in particular hemicellulases. Mining the genome for genes involved in secondary metabolite biosynthesis resulted...... of biosynthetic gene clusters in P. arizonense responsible for the synthesis of all detected compounds except curvulinic acid. The capacity to produce biomass degrading enzymes and the identification of a high chemical diversity in secreted bioactive secondary metabolites, offers a broad range of potential...

Public Health Risk Conditioned by Chemical Composition of Ground Water

Science.gov (United States)

Yankovich, E.; Osipova, N.; Yankovich, K.; Matveenko, I.

2016-03-01

The article studies the public health potential risk originated from water consumption and estimated on the basis of the groundwater chemical composition. We have processed the results of chemical groundwater analysis in different aquifers of Tomsk district (Tomsk Oblast, Russia). More than 8400 samples of chemical groundwater analyses were taken during long-term observation period. Human health risk assessment of exposure to contaminants in drinking water was performed in accordance with the risk assessment guidance for public health concerning chemical pollution of the environment (Russian reference number: 2.1.10.1920-04-M, 2004). Identified potential risks were estimated for consuming water of each aquifer. The comparative analysis of water quality of different aquifers was performed on the basis of the risk coefficient of the total non-carcinogenic effects. The non-carcinogenic risk for the health of the Tomsk district population due to groundwater consumption without prior sanitary treatment was admitted acceptable. A rather similar picture is observed for all aquifers, although deeper aquifers show lower hazard coefficients.

Health Risk Assessment of Harmful Chemicals: Case Study in a Petrochemical Industry

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M. Motovagheh

2011-01-01

Full Text Available Background and aims In the most chemical process industries, workers are exposed to various chemicals and working with these chemicals without considering safety and health considerations can lead to different harmful symptoms. For deciding about control measures and reducing risk to acceptable level , it is necessary to assess the health risk of exposing to harmful chemicals by aid of specific risk assessment techniques in the process industries. The purpose of this study was to assess the health risks arising from the exposures to chemicals in a petrochemical industry.  methods A simple and applied method was used for health risk assessment of chemicals in a petrochemical industry. Firstly job tasks and work process were determined and then different chemicals in each tasks identified and risk ranking was calculated in each job task by aid of hazard and exposure rate.   Results The result showed that workers are exposed to 10 chemicals including Methyl ethyl ketone, Epichlorohydrin, Sulfuric acid, Phenol, Chlorobenzene, Toluene, Isopropanol, Methylene chloride, Chlorideric Acid and Acetone during their work in plant. From these chemicals, the highest risk level was for Epichlorohydrin in the jobs of tank and utility operations and maintenance workers. The next high risk level was for Epichlorohydrin in technical inspecting and Methyl ethyl ketone in Tank and utility operations operator.     Conclusion Hazard information and monitoring data of chemical agents in the chemical industries can be used for assessing health risks from exposures to chemicals and ranking jobs by their risk level. These data can be used for resource allocation for control measures and reducing risk level to acceptable level.    

76 FR 38399 - Assessing the Current Research, Policy, and Practice Environment in Public Health Genomics

Science.gov (United States)

2011-06-30

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention [Docket Number CDC-2011-0008] Assessing the Current Research, Policy, and Practice Environment in Public Health... information helpful to assess the current research, policy, and practice environment in public health genomics...

Chemical Mixtures Health Risk Assessment of Environmental Contaminants: Concepts, Methods, And Applications

Science.gov (United States)

This problems-based, introductory workshop focuses on methods to assess health risks posed by exposures to chemical mixtures in the environment. Chemical mixtures health risk assessment methods continue to be developed and evolve to address concerns over health risks from multic...

Genomic Comparison of Two Family-Level Groups of the Uncultivated NAG1 Archaeal Lineage from Chemically and Geographically Disparate Hot Springs

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Eric D. Becraft

2017-10-01

Full Text Available Recent progress based on single-cell genomics and metagenomic investigations of archaea in a variety of extreme environments has led to significant advances in our understanding of the diversity, evolution, and metabolic potential of archaea, yet the vast majority of archaeal diversity remains undersampled. In this work, we coordinated single-cell genomics with metagenomics in order to construct a near-complete genome from a deeply branching uncultivated archaeal lineage sampled from Great Boiling Spring (GBS in the U.S. Great Basin, Nevada. This taxon is distantly related (distinct families to an archaeal genome, designated “Novel Archaeal Group 1” (NAG1, which was extracted from a metagenome recovered from an acidic iron spring in Yellowstone National Park (YNP. We compared the metabolic predictions of the NAG1 lineage to better understand how these archaea could inhabit such chemically distinct environments. Similar to the NAG1 population previously studied in YNP, the NAG1 population from GBS is predicted to utilize proteins as a primary carbon source, ferment simple carbon sources, and use oxygen as a terminal electron acceptor under oxic conditions. However, GBS NAG1 populations contained distinct genes involved in central carbon metabolism and electron transfer, including nitrite reductase, which could confer the ability to reduce nitrite under anaerobic conditions. Despite inhabiting chemically distinct environments with large variations in pH, GBS NAG1 populations shared many core genomic and metabolic features with the archaeon identified from YNP, yet were able to carve out a distinct niche at GBS.

Effects of racial and ethnic group and health literacy on responses to genomic risk information in a medically underserved population.

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Kaphingst, Kimberly A; Stafford, Jewel D; McGowan, Lucy D'Agostino; Seo, Joann; Lachance, Christina R; Goodman, Melody S

2015-02-01

Few studies have examined how individuals respond to genomic risk information for common, chronic diseases. This randomized study examined differences in responses by type of genomic information (genetic test/family history) and disease condition (diabetes/heart disease), and by race/ethnicity in a medically underserved population. 1,057 English-speaking adults completed a survey containing 1 of 4 vignettes (2-by-2 randomized design). Differences in dependent variables (i.e., interest in receiving genomic assessment, discussing with doctor or family, changing health habits) by experimental condition and race/ethnicity were examined using chi-squared tests and multivariable regression analysis. No significant differences were found in dependent variables by type of genomic information or disease condition. In multivariable models, Hispanics were more interested in receiving a genomic assessment than Whites (OR = 1.93; p literacy had greater interest than those with adequate health literacy. Blacks (OR = 1.78; p = .001) and Hispanics (OR = 1.85; p = .001) had greater interest in discussing information with family than Whites. Non-Hispanic Blacks (OR = 1.45; p = .04) had greater interest in discussing genomic information with a doctor than Whites. Blacks (β = -0.41; p literacy was negatively associated with number of health habits participants intended to change. Findings suggest that race/ethnicity may affect responses to genomic risk information. Additional research could examine how cognitive representations of this information differ across racial/ethnic groups. Health literacy is also critical to consider in developing approaches to communicating genomic information.

Genome-health nutrigenomics and nutrigenetics: nutritional requirements or 'nutriomes' for chromosomal stability and telomere maintenance at the individual level.

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Bull, Caroline; Fenech, Michael

2008-05-01

It is becoming increasingly evident that (a) risk for developmental and degenerative disease increases with more DNA damage, which in turn is dependent on nutritional status, and (b) the optimal concentration of micronutrients for prevention of genome damage is also dependent on genetic polymorphisms that alter the function of genes involved directly or indirectly in the uptake and metabolism of micronutrients required for DNA repair and DNA replication. The development of dietary patterns, functional foods and supplements that are designed to improve genome-health maintenance in individuals with specific genetic backgrounds may provide an important contribution to an optimum health strategy based on the diagnosis and individualised nutritional prevention of genome damage, i.e. genome health clinics. The present review summarises some of the recent knowledge relating to micronutrients that are associated with chromosomal stability and provides some initial insights into the likely nutritional factors that may be expected to have an impact on the maintenance of telomeres. It is evident that developing effective strategies for defining nutrient doses and combinations or 'nutriomes' for genome-health maintenance at the individual level is essential for further progress in this research field.

Genomic sequencing: assessing the health care system, policy, and big-data implications.

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Phillips, Kathryn A; Trosman, Julia R; Kelley, Robin K; Pletcher, Mark J; Douglas, Michael P; Weldon, Christine B

2014-07-01

New genomic sequencing technologies enable the high-speed analysis of multiple genes simultaneously, including all of those in a person's genome. Sequencing is a prominent example of a "big data" technology because of the massive amount of information it produces and its complexity, diversity, and timeliness. Our objective in this article is to provide a policy primer on sequencing and illustrate how it can affect health care system and policy issues. Toward this end, we developed an easily applied classification of sequencing based on inputs, methods, and outputs. We used it to examine the implications of sequencing for three health care system and policy issues: making care more patient-centered, developing coverage and reimbursement policies, and assessing economic value. We conclude that sequencing has great promise but that policy challenges include how to optimize patient engagement as well as privacy, develop coverage policies that distinguish research from clinical uses and account for bioinformatics costs, and determine the economic value of sequencing through complex economic models that take into account multiple findings and downstream costs. Project HOPE—The People-to-People Health Foundation, Inc.

The complete mitochondrial genomes for three Toxocara species of human and animal health significance

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Wu Xiang-Yun

2008-05-01

Full Text Available Abstract Background Studying mitochondrial (mt genomics has important implications for various fundamental areas, including mt biochemistry, physiology and molecular biology. In addition, mt genome sequences have provided useful markers for investigating population genetic structures, systematics and phylogenetics of organisms. Toxocara canis, Toxocara cati and Toxocara malaysiensis cause significant health problems in animals and humans. Although they are of importance in human and animal health, no information on the mt genomes for any of Toxocara species is available. Results The sizes of the entire mt genome are 14,322 bp for T. canis, 14029 bp for T. cati and 14266 bp for T. malaysiensis, respectively. These circular genomes are amongst the largest reported to date for all secernentean nematodes. Their relatively large sizes relate mainly to an increased length in the AT-rich region. The mt genomes of the three Toxocara species all encode 12 proteins, two ribosomal RNAs and 22 transfer RNA genes, but lack the ATP synthetase subunit 8 gene, which is consistent with all other species of Nematode studied to date, with the exception of Trichinella spiralis. All genes are transcribed in the same direction and have a nucleotide composition high in A and T, but low in G and C. The contents of A+T of the complete genomes are 68.57% for T. canis, 69.95% for T. cati and 68.86% for T. malaysiensis, among which the A+T for T. canis is the lowest among all nematodes studied to date. The AT bias had a significant effect on both the codon usage pattern and amino acid composition of proteins. The mt genome structures for three Toxocara species, including genes and non-coding regions, are in the same order as for Ascaris suum and Anisakis simplex, but differ from Ancylostoma duodenale, Necator americanus and Caenorhabditis elegans only in the location of the AT-rich region, whereas there are substantial differences when compared with Onchocerca volvulus

Health and environmental effects of complex chemical mixtures: proceedings

Energy Technology Data Exchange (ETDEWEB)

1985-01-01

The Office of Health and Environmental Research (OHER) of the Department of Energy supports a broad long-term research program on human health and environmental effects from potential exposure to energy-related complex chemical mixtures. The program seeks basic mechanistic data on the effects of complex mixtures at the cellular, molecular, and whole animal levels to aid in predicting human health effects and seeks ecological data on biological and physical transformations in the mixtures, concentrations of the mixtures in various compartments of the environment, and potential routes for human exposure to these mixtures (e.g., food chain). On June 17-18, 1985, OHER held its First Annual Technical Meeting on the Complex Chemical Mixtures Program in Chicago, IL. The primary purpose of the meeting was to enable principal investigators to report the research status and accomplishments of ongoing complex chemical mixture studies supported by OHER. To help focus future research directions round table discussions were conducted.

Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate.

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Timothy Caulfield

2013-11-01

Full Text Available The cost of whole genome sequencing is dropping rapidly. There has been a great deal of enthusiasm about the potential for this technological advance to transform clinical care. Given the interest and significant investment in genomics, this seems an ideal time to consider what the evidence tells us about potential benefits and harms, particularly in the context of health care policy. The scale and pace of adoption of this powerful new technology should be driven by clinical need, clinical evidence, and a commitment to put patients at the centre of health care policy.

Impact of environmental chemicals, sociodemographic variables, depression, and clinical indicators of health and nutrition on self-reported health status

Science.gov (United States)

Public health researchers ideally integrate social, environmental, and clinical measures to identify predictors of poor health. Chemicals measured in human tissues are often evaluated in relation to intangible or rare health outcomes, or are studied one chemical at a time. Using ...

Public health and valorization of genome-based technologies: a new model.

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Lal, Jonathan A; Schulte In den Bäumen, Tobias; Morré, Servaas A; Brand, Angela

2011-12-05

The success rate of timely translation of genome-based technologies to commercially feasible products/services with applicability in health care systems is significantly low. We identified both industry and scientists neglect health policy aspects when commercializing their technology, more specifically, Public Health Assessment Tools (PHAT) and early on involvement of decision makers through which market authorization and reimbursements are dependent. While Technology Transfer (TT) aims to facilitate translation of ideas into products, Health Technology Assessment, one component of PHAT, for example, facilitates translation of products/processes into healthcare services and eventually comes up with recommendations for decision makers. We aim to propose a new model of valorization to optimize integration of genome-based technologies into the healthcare system. The method used to develop our model is an adapted version of the Fish Trap Model and the Basic Design Cycle. We found although different, similarities exist between TT and PHAT. Realizing the potential of being mutually beneficial justified our proposal of their relative parallel initiation. We observed that the Public Health Genomics Wheel should be included in this relative parallel activity to ensure all societal/policy aspects are dealt with preemptively by both stakeholders. On further analysis, we found out this whole process is dependent on the Value of Information. As a result, we present our LAL (Learning Adapting Leveling) model which proposes, based on market demand; TT and PHAT by consultation/bi-lateral communication should advocate for relevant technologies. This can be achieved by public-private partnerships (PPPs). These widely defined PPPs create the innovation network which is a developing, consultative/collaborative-networking platform between TT and PHAT. This network has iterations and requires learning, assimilating and using knowledge developed and is called absorption capacity. We

The Sources of Chemical Contaminants in Food and Their Health Implications

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Irfan A. Rather

2017-11-01

Full Text Available Food contamination is a matter of serious concern, as the high concentration of chemicals present in the edibles poses serious health risks. Protecting the public from the degrees of the harmfulness of contaminated foods has become a daunting task. This article highlights the causes, types, and health implications of chemical contamination in food. The food contamination could be due to naturally occurring contaminants in the environment or artificially introduced by the human. The phases of food processing, packaging, transportation, and storage are also significant contributors to food contamination. The implications of these chemical contaminants on human health are grave, ranging from mild gastroenteritis to fatal cases of hepatic, renal, and neurological syndromes. Although, the government regulates such chemicals in the eatables by prescribing minimum limits that are safe for human consumption yet measures still need to be taken to curb food contamination entirely. Therefore, a variety of food needs to be inspected and measured for the presence of chemical contaminants. The preventative measures pertaining about the food contaminants problems are pointed out and discussed.

The Sources of Chemical Contaminants in Food and Their Health Implications

Science.gov (United States)

Rather, Irfan A.; Koh, Wee Yin; Paek, Woon K.; Lim, Jeongheui

2017-01-01

Food contamination is a matter of serious concern, as the high concentration of chemicals present in the edibles poses serious health risks. Protecting the public from the degrees of the harmfulness of contaminated foods has become a daunting task. This article highlights the causes, types, and health implications of chemical contamination in food. The food contamination could be due to naturally occurring contaminants in the environment or artificially introduced by the human. The phases of food processing, packaging, transportation, and storage are also significant contributors to food contamination. The implications of these chemical contaminants on human health are grave, ranging from mild gastroenteritis to fatal cases of hepatic, renal, and neurological syndromes. Although, the government regulates such chemicals in the eatables by prescribing minimum limits that are safe for human consumption yet measures still need to be taken to curb food contamination entirely. Therefore, a variety of food needs to be inspected and measured for the presence of chemical contaminants. The preventative measures pertaining about the food contaminants problems are pointed out and discussed. PMID:29204118

Safety, health and environmental committee (JKSHE): Establishing chemical hazard management

International Nuclear Information System (INIS)

Shyen, A.K.S.; Noriah Mod Ali; Sangau, J.K.

2012-01-01

Most of the laboratories in Malaysian Nuclear Agency are using chemicals in their research activities. However, it is known that using of chemicals without proper knowledge especially on the material characteristics as well as safe handling procedure may cause great harm to the workers. Therefore, Safety, Health and Environmental Committee (JKSHE) sees the need to establish a good chemical hazard management to ensure that a safe and healthy workplace and environment is provided. One of the elements in chemical hazard management is to carry out Chemical Hazard Risk Assessment (CHRA). The assessment was done so that decision can be made on suitable control measures upon use of such chemicals, such as induction and training courses to be given to the workers and health surveillance activities that may be needed to protect the workers. For this, JKSHE has recommended to conduct CHRA for one of the laboratories at Secondary Standard Dosimetry Laboratory (SSDL) namely Film Dosimeter Processing Room (dark room) as the initial effort towards a better chemical hazard management. This paper presents the case study where CHRA was conducted to identify the chemical hazards at the selected laboratory, the adequacy of existing control measures and finally the recommendation for more effective control measures. (author)

Challenges to studying the health effects of early life environmental chemical exposures on children's health.

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Braun, Joseph M; Gray, Kimberly

2017-12-01

Epidemiological studies play an important role in quantifying how early life environmental chemical exposures influence the risk of childhood diseases. These studies face at least four major challenges that can produce noise when trying to identify signals of associations between chemical exposure and childhood health. Challenges include accurately estimating chemical exposure, confounding from causes of both exposure and disease, identifying periods of heightened vulnerability to chemical exposures, and determining the effects of chemical mixtures. We provide recommendations that will aid in identifying these signals with more precision.

Penicillium arizonense, a new, genome sequenced fungal species, reveals a high chemical diversity in secreted metabolites

Science.gov (United States)

Grijseels, Sietske; Nielsen, Jens Christian; Randelovic, Milica; Nielsen, Jens; Nielsen, Kristian Fog; Workman, Mhairi; Frisvad, Jens Christian

2016-01-01

A new soil-borne species belonging to the Penicillium section Canescentia is described, Penicillium arizonense sp. nov. (type strain CBS 141311T = IBT 12289T). The genome was sequenced and assembled into 33.7 Mb containing 12,502 predicted genes. A phylogenetic assessment based on marker genes confirmed the grouping of P. arizonense within section Canescentia. Compared to related species, P. arizonense proved to encode a high number of proteins involved in carbohydrate metabolism, in particular hemicellulases. Mining the genome for genes involved in secondary metabolite biosynthesis resulted in the identification of 62 putative biosynthetic gene clusters. Extracts of P. arizonense were analysed for secondary metabolites and austalides, pyripyropenes, tryptoquivalines, fumagillin, pseurotin A, curvulinic acid and xanthoepocin were detected. A comparative analysis against known pathways enabled the proposal of biosynthetic gene clusters in P. arizonense responsible for the synthesis of all detected compounds except curvulinic acid. The capacity to produce biomass degrading enzymes and the identification of a high chemical diversity in secreted bioactive secondary metabolites, offers a broad range of potential industrial applications for the new species P. arizonense. The description and availability of the genome sequence of P. arizonense, further provides the basis for biotechnological exploitation of this species. PMID:27739446

Incorporating Health Impacts from Exposure to Chemicals in Food Packaging in LCA

DEFF Research Database (Denmark)

Ernstoff, Alexi; Trier, Xenia; Jolliet, Oliver

2014-01-01

Life cycle assessments (LCA) on the environmental and public health impacts of food and beverage packaging materials have found some advantages to plastic over glass. Entirely missing from these evaluations are the health impacts of possible chemical, e.g. endocrine dis-ruptor, exposure through...... migration of chemicals from the packaging into the food product. We build a framework based on a life cycle perspective to predict which chemicals may be in a package that are not intentionally added ingredients, and we apply this approach to the US EPA’s CPCAT database. In total we find 1,154 chemicals...... within the CPCAT database related to food-contact materials; out of these 107 are potential endocrine disruptors according to the TEDX list of endocrine disruptors. We also build a framework in an effort to begin harmonizing LCA to include health impacts of chemical exposure related to food packaging...

Genomics as public health? Community genetics and the challenge of personalised medicine in Cuba.

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Gibbon, Sahra

2009-08-01

Making use of a comparative perspective on the emergence of 'breast cancer genetics' in the different cultural context of the UK and Cuba, this article examines the tensions between the modern promise of genomics as personalised medicine and a commitment to public health. Focusing primarily on the Cuba context and drawing on ethnographic research as part of a collaborative project working with genetic professionals and publics, the article examines the particular technologies, identities and socialities at stake in an emerging and evolving field of genetic medicine. It highlights how long-standing continuities in the commitment to the equitable provision of public health, particularly as this relates to 'family medicine', are central to understanding the scope and expansion of 'community genetics' interventions, even when at the level of local practice, public health is also now subject to the unequal dynamics of economic necessity through the working out of 'lo informal'. Illuminating the different ways agency, risk, responsibility, citizenship and activism get configured by and between publics and health professionals in Cuba, the article reveals the challenges and opportunities posed by predictive genomic medicine in relation to the dynamic and shifting terrain of public health.

Navigating the evidentiary turn in public health: Sensemaking strategies to integrate genomics into state-level chronic disease prevention programs.

Science.gov (United States)

Senier, Laura; Smollin, Leandra; Lee, Rachael; Nicoll, Lauren; Shields, Michael; Tan, Catherine

2018-06-23

In the past decade, healthcare delivery has faced two major disruptions: the mapping of the human genome and the rise of evidence-based practice. Sociologists have documented the paradigmatic shift towards evidence-based practice in medicine, but have yet to examine its effect on other health professions or the broader healthcare arena. This article shows how evidence-based practice is transforming public health in the United States. We present an in-depth qualitative analysis of interview, ethnographic, and archival data to show how Michigan's state public health agency has navigated the turn to evidence-based practice, as they have integrated scientific advances in genomics into their chronic disease prevention programming. Drawing on organizational theory, we demonstrate how they managed ambiguity through a combination of sensegiving and sensemaking activities. Specifically, they linked novel developments in genomics to a long-accepted public health planning model, the Core Public Health Functions. This made cutting edge advances in genomics more familiar to their peers in the state health agency. They also marshaled state-specific surveillance data to illustrate the public health burden of hereditary cancers in Michigan, and to make expert panel recommendations for genetic screening more locally relevant. Finally, they mobilized expertise to help their internal colleagues and external partners modernize conventional public health activities in chronic disease prevention. Our findings show that tools and concepts from organizational sociology can help medical sociologists understand how evidence-based practice is shaping institutions and interprofessional relations in the healthcare arena. Copyright © 2018 Elsevier Ltd. All rights reserved.

Status of dental health in chemical warfare victims: The case of Isfahan, Iran

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Ahmad Mottaghi

2012-01-01

Conclusion: Chemical warfare victims have relatively poor dental/oral health. Chemical injury might cause a dysfunction in saliva secretion, with decrease in saliva secretion increasing the risk for tooth decay and periodontal disorders. Further research is required to find out the exact underlying mechanisms and the factors associated with poor dental/oral health in chemical warfare victims.

The effects on health of radiological and chemical toxicity

International Nuclear Information System (INIS)

Toledano, M.; Flury-Herard, A.

2003-01-01

Future trends in the protection against the effects on health of radiological and/or chemical toxicity will certainly be based on improved knowledge of specific biological mechanisms and individual sensitivity. Progress in these areas will most likely be made at the interfaces between research, health care and biomedical monitoring. (authors)

Data safe havens to combine health and genomic data: benefits and challenges

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Kerina H Jones

2017-04-01

Genomic data sets contain vast amounts of valuable information, some of which is currently undefined, but which may have direct bearing on individual health at some point. The use of these data in combination with health-related data has the potential to bring great benefits, better clinical trial stratification, epidemiology project design and clinical improvements. It is, therefore, essential that such data are surrounded by a properly-designed, robust governance framework including technical and procedural access controls that enable the data to be used safely.

Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association.

Science.gov (United States)

Hall, Jennifer L; Ryan, John J; Bray, Bruce E; Brown, Candice; Lanfear, David; Newby, L Kristin; Relling, Mary V; Risch, Neil J; Roden, Dan M; Shaw, Stanley Y; Tcheng, James E; Tenenbaum, Jessica; Wang, Thomas N; Weintraub, William S

2016-04-01

The process of scientific discovery is rapidly evolving. The funding climate has influenced a favorable shift in scientific discovery toward the use of existing resources such as the electronic health record. The electronic health record enables long-term outlooks on human health and disease, in conjunction with multidimensional phenotypes that include laboratory data, images, vital signs, and other clinical information. Initial work has confirmed the utility of the electronic health record for understanding mechanisms and patterns of variability in disease susceptibility, disease evolution, and drug responses. The addition of biobanks and genomic data to the information contained in the electronic health record has been demonstrated. The purpose of this statement is to discuss the current challenges in and the potential for merging electronic health record data and genomics for cardiovascular research. © 2016 American Heart Association, Inc.

What does it mean to be genomically literate?: National Human Genome Research Institute Meeting Report.

Science.gov (United States)

Hurle, Belen; Citrin, Toby; Jenkins, Jean F; Kaphingst, Kimberly A; Lamb, Neil; Roseman, Jo Ellen; Bonham, Vence L

2013-08-01

Genomic discoveries will increasingly advance the science of medicine. Limited genomic literacy may adversely impact the public's understanding and use of the power of genetics and genomics in health care and public health. In November 2011, a meeting was held by the National Human Genome Research Institute to examine the challenge of achieving genomic literacy for the general public, from kindergarten to grade 12 to adult education. The role of the media in disseminating scientific messages and in perpetuating or reducing misconceptions was also discussed. Workshop participants agreed that genomic literacy will be achieved only through active engagement between genomics experts and the varied constituencies that comprise the public. This report summarizes the background, content, and outcomes from this meeting, including recommendations for a research agenda to inform decisions about how to advance genomic literacy in our society.

Effects of immunostimulation on social behavior, chemical communication and genome-wide gene expression in honey bee workers (Apis mellifera

Directory of Open Access Journals (Sweden)

Richard Freddie-Jeanne

2012-10-01

Full Text Available Abstract Background Social insects, such as honey bees, use molecular, physiological and behavioral responses to combat pathogens and parasites. The honey bee genome contains all of the canonical insect immune response pathways, and several studies have demonstrated that pathogens can activate expression of immune effectors. Honey bees also use behavioral responses, termed social immunity, to collectively defend their hives from pathogens and parasites. These responses include hygienic behavior (where workers remove diseased brood and allo-grooming (where workers remove ectoparasites from nestmates. We have previously demonstrated that immunostimulation causes changes in the cuticular hydrocarbon profiles of workers, which results in altered worker-worker social interactions. Thus, cuticular hydrocarbons may enable workers to identify sick nestmates, and adjust their behavior in response. Here, we test the specificity of behavioral, chemical and genomic responses to immunostimulation by challenging workers with a panel of different immune stimulants (saline, Sephadex beads and Gram-negative bacteria E. coli. Results While only bacteria-injected bees elicited altered behavioral responses from healthy nestmates compared to controls, all treatments resulted in significant changes in cuticular hydrocarbon profiles. Immunostimulation caused significant changes in expression of hundreds of genes, the majority of which have not been identified as members of the canonical immune response pathways. Furthermore, several new candidate genes that may play a role in cuticular hydrocarbon biosynthesis were identified. Effects of immune challenge expression of several genes involved in immune response, cuticular hydrocarbon biosynthesis, and the Notch signaling pathway were confirmed using quantitative real-time PCR. Finally, we identified common genes regulated by pathogen challenge in honey bees and other insects. Conclusions These results demonstrate that

Genomic mechanisms of stress tolerance for the industrial yeast Saccharomyces cerevisiae against the major chemical classes of inhibitors derived from lignocellulosic biomass conversion

Science.gov (United States)

Scientists at ARS developed tolerant industrial yeast that is able to reduce major chemical classes of inhibitors into less toxic or none toxic compounds while producing ethanol. Using genomic studies, we defined mechanisms of in situ detoxification involved in novel gene functions, vital cofactor r...

Quality of life in chemical warfare survivors with ophthalmologic injuries: the first results form Iran Chemical Warfare Victims Health Assessment Study.

Science.gov (United States)

Mousavi, Batool; Soroush, Mohammad Reza; Montazeri, Ali

2009-01-19

Iraq used chemical weapons extensively against the Iranians during the Iran-Iraq war (1980-1988). The aim of this study was to assess the health related quality of life (HRQOL) in people who had ophthalmologic complications due to the sulfur mustard gas exposure during the war. The Veterans and Martyrs Affair Foundation (VMAF) database indicated that there were 196 patients with severe ophthalmologic complications due to chemical weapons exposure. Of these, those who gave consent (n = 147) entered into the study. Quality of life was measured using the 36-item Short Form Health Survey (SF-36) and scores were compared to those of the general public. In addition logistic regression analysis was performed to indicate variables that contribute to physical and mental health related quality of life. The mean age of the patients was 44.8 (SD = 8.7) ranging from 21 to 75 years. About one-third of the cases (n= 50) reported exposure to chemical weapons more than once. The mean exposure duration to sulfur mustard gas was 21.6 years (SD = 1.2). The lowest scores on the SF-36 subscales were found to be: the role physical and the general health. Quality of life in chemical warfare victims who had ophthalmologic problems was significantly lower than the general public (P chemical warfare victims with ophthalmologic complications suffer from poor health related quality of life. It seems that the need for provision of health and support for this population is urgent. In addition, further research is necessary to measure health related quality of life in victims with different types of disabilities in order to support and enhance quality of life among this population.

Application of Chemical Genomics to Plant-Bacteria Communication: A High-Throughput System to Identify Novel Molecules Modulating the Induction of Bacterial Virulence Genes by Plant Signals.

Science.gov (United States)

Vandelle, Elodie; Puttilli, Maria Rita; Chini, Andrea; Devescovi, Giulia; Venturi, Vittorio; Polverari, Annalisa

2017-01-01

The life cycle of bacterial phytopathogens consists of a benign epiphytic phase, during which the bacteria grow in the soil or on the plant surface, and a virulent endophytic phase involving the penetration of host defenses and the colonization of plant tissues. Innovative strategies are urgently required to integrate copper treatments that control the epiphytic phase with complementary tools that control the virulent endophytic phase, thus reducing the quantity of chemicals applied to economically and ecologically acceptable levels. Such strategies include targeted treatments that weaken bacterial pathogens, particularly those inhibiting early infection steps rather than tackling established infections. This chapter describes a reporter gene-based chemical genomic high-throughput screen for the induction of bacterial virulence by plant molecules. Specifically, we describe a chemical genomic screening method to identify agonist and antagonist molecules for the induction of targeted bacterial virulence genes by plant extracts, focusing on the experimental controls required to avoid false positives and thus ensuring the results are reliable and reproducible.

Potential health effects associated with dermal exposure to occupational chemicals.

Science.gov (United States)

Anderson, Stacey E; Meade, B Jean

2014-01-01

There are a large number of workers in the United States, spanning a variety of occupational industries and sectors, who are potentially exposed to chemicals that can be absorbed through the skin. Occupational skin exposures can result in numerous diseases that can adversely affect an individual's health and capacity to perform at work. In general, there are three types of chemical-skin interactions of concern: direct skin effects, immune-mediated skin effects, and systemic effects. While hundreds of chemicals (metals, epoxy and acrylic resins, rubber additives, and chemical intermediates) present in virtually every industry have been identified to cause direct and immune-mediated effects such as contact dermatitis or urticaria, less is known about the number and types of chemicals contributing to systemic effects. In an attempt to raise awareness, skin notation assignments communicate the potential for dermal absorption; however, there is a need for standardization among agencies to communicate an accurate description of occupational hazards. Studies have suggested that exposure to complex mixtures, excessive hand washing, use of hand sanitizers, high frequency of wet work, and environmental or other factors may enhance penetration and stimulate other biological responses altering the outcomes of dermal chemical exposure. Understanding the hazards of dermal exposure is essential for the proper implementation of protective measures to ensure worker safety and health.

The Contribution of Health Technology Assessment, Health Needs Assessment, and Health Impact Assessment to the Assessment and Translation of Technologies in the Field of Public Health Genomics

NARCIS (Netherlands)

Rosenköttera, N.; Vondeling, Hindrik; Blancquaert, I.; Mekel, O.C.L.; Kristensen, F.B.; Brand, A.

2011-01-01

The European Union has named genomics as one of the promising research fields for the development of new health technologies. Major concerns with regard to these fields are, on the one hand, the rather slow and limited translation of new knowledge and, on the other hand, missing insights into the

Transposable element activity, genome regulation and human health.

Science.gov (United States)

Wang, Lu; Jordan, I King

2018-03-02

A convergence of novel genome analysis technologies is enabling population genomic studies of human transposable elements (TEs). Population surveys of human genome sequences have uncovered thousands of individual TE insertions that segregate as common genetic variants, i.e. TE polymorphisms. These recent TE insertions provide an important source of naturally occurring human genetic variation. Investigators are beginning to leverage population genomic data sets to execute genome-scale association studies for assessing the phenotypic impact of human TE polymorphisms. For example, the expression quantitative trait loci (eQTL) analytical paradigm has recently been used to uncover hundreds of associations between human TE insertion variants and gene expression levels. These include population-specific gene regulatory effects as well as coordinated changes to gene regulatory networks. In addition, analyses of linkage disequilibrium patterns with previously characterized genome-wide association study (GWAS) trait variants have uncovered TE insertion polymorphisms that are likely causal variants for a variety of common complex diseases. Gene regulatory mechanisms that underlie specific disease phenotypes have been proposed for a number of these trait associated TE polymorphisms. These new population genomic approaches hold great promise for understanding how ongoing TE activity contributes to functionally relevant genetic variation within and between human populations. Copyright © 2018 Elsevier Ltd. All rights reserved.

Children's vulnerability to toxic chemicals: a challenge and opportunity to strengthen health and environmental policy.

Science.gov (United States)

Landrigan, Philip J; Goldman, Lynn R

2011-05-01

A key policy breakthrough occurred nearly twenty years ago with the discovery that children are far more sensitive than adults to toxic chemicals in the environment. This finding led to the recognition that chemical exposures early in life are significant and preventable causes of disease in children and adults. We review this knowledge and recommend a new policy to regulate industrial and consumer chemicals that will protect the health of children and all Americans, prevent disease, and reduce health care costs. The linchpins of a new US chemical policy will be: first, a legally mandated requirement to test the toxicity of chemicals already in commerce, prioritizing chemicals in the widest use, and incorporating new assessment technologies; second, a tiered approach to premarket evaluation of new chemicals; and third, epidemiologic monitoring and focused health studies of exposed populations.

Environmentally-Induced Malignancies: An In Vivo Model to Evaluate the Health Impact of Chemicals in Mixed Waste

International Nuclear Information System (INIS)

Maria Pallavicini

2001-01-01

Occupational and environmental exposure to organic ligands, solvents, fuel hydrocarbons, and polychlorinated biphenyls are linked with increased risk of hematologic malignancies. DOE facilities and waste sites in the U.S. are contaminated with mixtures of potentially hazardous chemicals such as metals, organic ligands, solvents, fuel hydrocarbons, polychlorinated biphenyls and radioactive isotopes. A major goal of this project was to establish linkage between chemical/radiation exposure and induction of genomic damage in target populations with the capability to undergo transformation

Environmentally-Induced Malignancies: An In Vivo Model to Evaluate the Health Impact of Chemicals in Mixed Waste

Energy Technology Data Exchange (ETDEWEB)

Maria Pallavicini

2001-05-04

Occupational and environmental exposure to organic ligands, solvents, fuel hydrocarbons, and polychlorinated biphenyls are linked with increased risk of hematologic malignancies. DOE facilities and waste sites in the U.S. are contaminated with mixtures of potentially hazardous chemicals such as metals, organic ligands, solvents, fuel hydrocarbons, polychlorinated biphenyls and radioactive isotopes. A major goal of this project was to establish linkage between chemical/radiation exposure and induction of genomic damage in target populations with the capability to undergo transformation.

Quality of life in chemical warfare survivors with ophthalmologic injuries: the first results form Iran Chemical Warfare Victims Health Assessment Study

Directory of Open Access Journals (Sweden)

Soroush Mohammad

2009-01-01

Full Text Available Abstract Background Iraq used chemical weapons extensively against the Iranians during the Iran-Iraq war (1980–1988. The aim of this study was to assess the health related quality of life (HRQOL in people who had ophthalmologic complications due to the sulfur mustard gas exposure during the war. Methods The Veterans and Martyrs Affair Foundation (VMAF database indicated that there were 196 patients with severe ophthalmologic complications due to chemical weapons exposure. Of these, those who gave consent (n = 147 entered into the study. Quality of life was measured using the 36-item Short Form Health Survey (SF-36 and scores were compared to those of the general public. In addition logistic regression analysis was performed to indicate variables that contribute to physical and mental health related quality of life. Results The mean age of the patients was 44.8 (SD = 8.7 ranging from 21 to 75 years. About one-third of the cases (n= 50 reported exposure to chemical weapons more than once. The mean exposure duration to sulfur mustard gas was 21.6 years (SD = 1.2. The lowest scores on the SF-36 subscales were found to be: the role physical and the general health. Quality of life in chemical warfare victims who had ophthalmologic problems was significantly lower than the general public (P Conclusion The study findings suggest that chemical warfare victims with ophthalmologic complications suffer from poor health related quality of life. It seems that the need for provision of health and support for this population is urgent. In addition, further research is necessary to measure health related quality of life in victims with different types of disabilities in order to support and enhance quality of life among this population.

Public health genomics and personalized prevention: lessons from the COGS project.

Science.gov (United States)

Pashayan, N; Hall, A; Chowdhury, S; Dent, T; Pharoah, P D P; Burton, H

2013-11-01

Using the principles of public health genomics, we examined the opportunities and challenges of implementing personalized prevention programmes for cancer at the population level. Our model-based estimates indicate that polygenic risk stratification can potentially improve the effectiveness and cost-effectiveness of screening programmes. However, compared with 'one-size-fits-all' screening programmes, personalized screening adds further layers of complexity to the organization of screening services and raises ethical, legal and social challenges. Before polygenic inheritance is translated into population screening strategy, evidence from empirical research and engagement with and education of the public and the health professionals are needed. © 2013 The Association for the Publication of the Journal of Internal Medicine.

Rat Genome Database (RGD)

Data.gov (United States)

U.S. Department of Health & Human Services — The Rat Genome Database (RGD) is a collaborative effort between leading research institutions involved in rat genetic and genomic research to collect, consolidate,...

Genome-scale metabolic models applied to human health and disease.

Science.gov (United States)

Cook, Daniel J; Nielsen, Jens

2017-11-01

Advances in genome sequencing, high throughput measurement of gene and protein expression levels, data accessibility, and computational power have allowed genome-scale metabolic models (GEMs) to become a useful tool for understanding metabolic alterations associated with many different diseases. Despite the proven utility of GEMs, researchers confront multiple challenges in the use of GEMs, their application to human health and disease, and their construction and simulation in an organ-specific and disease-specific manner. Several approaches that researchers are taking to address these challenges include using proteomic and transcriptomic-informed methods to build GEMs for individual organs, diseases, and patients and using constraints on model behavior during simulation to match observed metabolic fluxes. We review the challenges facing researchers in the use of GEMs, review the approaches used to address these challenges, and describe advances that are on the horizon and could lead to a better understanding of human metabolism. WIREs Syst Biol Med 2017, 9:e1393. doi: 10.1002/wsbm.1393 For further resources related to this article, please visit the WIREs website. © 2017 Wiley Periodicals, Inc.

Human social genomics.

Directory of Open Access Journals (Sweden)

Steven W Cole

2014-08-01

Full Text Available A growing literature in human social genomics has begun to analyze how everyday life circumstances influence human gene expression. Social-environmental conditions such as urbanity, low socioeconomic status, social isolation, social threat, and low or unstable social status have been found to associate with differential expression of hundreds of gene transcripts in leukocytes and diseased tissues such as metastatic cancers. In leukocytes, diverse types of social adversity evoke a common conserved transcriptional response to adversity (CTRA characterized by increased expression of proinflammatory genes and decreased expression of genes involved in innate antiviral responses and antibody synthesis. Mechanistic analyses have mapped the neural "social signal transduction" pathways that stimulate CTRA gene expression in response to social threat and may contribute to social gradients in health. Research has also begun to analyze the functional genomics of optimal health and thriving. Two emerging opportunities now stand to revolutionize our understanding of the everyday life of the human genome: network genomics analyses examining how systems-level capabilities emerge from groups of individual socially sensitive genomes and near-real-time transcriptional biofeedback to empirically optimize individual well-being in the context of the unique genetic, geographic, historical, developmental, and social contexts that jointly shape the transcriptional realization of our innate human genomic potential for thriving.

Quantifying the Number of Independent Organelle DNA Insertions in Genome Evolution and Human Health.

Science.gov (United States)

Hazkani-Covo, Einat; Martin, William F

2017-05-01

Fragments of organelle genomes are often found as insertions in nuclear DNA. These fragments of mitochondrial DNA (numts) and plastid DNA (nupts) are ubiquitous components of eukaryotic genomes. They are, however, often edited out during the genome assembly process, leading to systematic underestimation of their frequency. Numts and nupts, once inserted, can become further fragmented through subsequent insertion of mobile elements or other recombinational events that disrupt the continuity of the inserted sequence relative to the genuine organelle DNA copy. Because numts and nupts are typically identified through sequence comparison tools such as BLAST, disruption of insertions into smaller fragments can lead to systematic overestimation of numt and nupt frequencies. Accurate identification of numts and nupts is important, however, both for better understanding of their role during evolution, and for monitoring their increasingly evident role in human disease. Human populations are polymorphic for 141 numt loci, five numts are causal to genetic disease, and cancer genomic studies are revealing an abundance of numts associated with tumor progression. Here, we report investigation of salient parameters involved in obtaining accurate estimates of numt and nupt numbers in genome sequence data. Numts and nupts from 44 sequenced eukaryotic genomes reveal lineage-specific differences in the number, relative age and frequency of insertional events as well as lineage-specific dynamics of their postinsertional fragmentation. Our findings outline the main technical parameters influencing accurate identification and frequency estimation of numts in genomic studies pertinent to both evolution and human health. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

Genomic Sequence Variation Markup Language (GSVML).

Science.gov (United States)

Nakaya, Jun; Kimura, Michio; Hiroi, Kaei; Ido, Keisuke; Yang, Woosung; Tanaka, Hiroshi

2010-02-01

With the aim of making good use of internationally accumulated genomic sequence variation data, which is increasing rapidly due to the explosive amount of genomic research at present, the development of an interoperable data exchange format and its international standardization are necessary. Genomic Sequence Variation Markup Language (GSVML) will focus on genomic sequence variation data and human health applications, such as gene based medicine or pharmacogenomics. We developed GSVML through eight steps, based on case analysis and domain investigations. By focusing on the design scope to human health applications and genomic sequence variation, we attempted to eliminate ambiguity and to ensure practicability. We intended to satisfy the requirements derived from the use case analysis of human-based clinical genomic applications. Based on database investigations, we attempted to minimize the redundancy of the data format, while maximizing the data covering range. We also attempted to ensure communication and interface ability with other Markup Languages, for exchange of omics data among various omics researchers or facilities. The interface ability with developing clinical standards, such as the Health Level Seven Genotype Information model, was analyzed. We developed the human health-oriented GSVML comprising variation data, direct annotation, and indirect annotation categories; the variation data category is required, while the direct and indirect annotation categories are optional. The annotation categories contain omics and clinical information, and have internal relationships. For designing, we examined 6 cases for three criteria as human health application and 15 data elements for three criteria as data formats for genomic sequence variation data exchange. The data format of five international SNP databases and six Markup Languages and the interface ability to the Health Level Seven Genotype Model in terms of 317 items were investigated. GSVML was developed as

Health behavior change: can genomics improve behavioral adherence?

Science.gov (United States)

McBride, Colleen M; Bryan, Angela D; Bray, Molly S; Swan, Gary E; Green, Eric D

2012-03-01

The National Human Genome Research Institute recommends pursuing "genomic information to improve behavior change interventions" as part of its strategic vision for genomics. The limited effectiveness of current behavior change strategies may be explained, in part, by their insensitivity to individual variation in adherence responses. The first step in evaluating whether genomics can inform customization of behavioral recommendations is evidence reviews to identify adherence macrophenotypes common across behaviors and individuals that have genetic underpinnings. Conceptual models of how biological, psychological, and environmental factors influence adherence also are needed. Researchers could routinely collect biospecimens and standardized adherence measurements of intervention participants to enable understanding of genetic and environmental influences on adherence, to guide intervention customization and prospective comparative effectiveness studies.

Yeast Toxicogenomics: genome-wide responses to chemical stresses with impact in Environmental Health, Pharmacology and Biotechnology

Directory of Open Access Journals (Sweden)

Sandra Costa dos Santos

2012-04-01

Full Text Available The emerging transdisciplinary field of Toxicogenomics aims to study the cell response to a given toxicant at the genome, transcriptome, proteome and metabolome levels. This approach is expected to provide earlier and more sensitive biomarkers of toxicological responses and help in the delineation of regulatory risk assessment. The use of model organisms to gather such genomic information, through the exploitation of Omics and Bioinformatics approaches and tools, together with more focused molecular and cellular biology studies are rapidly increasing our understanding and providing an integrative view on how cells interact with their environment. The use of the model eukaryote Saccharomyces cerevisiae in the field of Toxicogenomics is discussed in this review. Despite the limitations intrinsic to the use of such a simple single cell experimental model, S. cerevisiae appears to be very useful as a first screening tool, limiting the use of animal models. Moreover, it is also one of the most interesting systems to obtain a truly global understanding of the toxicological response and resistance mechanisms, being in the frontline of systems biology research and developments. The impact of the knowledge gathered in the yeast model, through the use of Toxicogenomics approaches, is highlighted here by its use in prediction of toxicological outcomes of exposure to pesticides and pharmaceutical drugs, but also by its impact in biotechnology, namely in the development of more robust crops and in the improvement of yeast strains as cell factories.

Helminth Genomics: The Implications for Human Health

Science.gov (United States)

Brindley, Paul J.; Mitreva, Makedonka; Ghedin, Elodie; Lustigman, Sara

2009-01-01

More than two billion people (one-third of humanity) are infected with parasitic roundworms or flatworms, collectively known as helminth parasites. These infections cause diseases that are responsible for enormous levels of morbidity and mortality, delays in the physical development of children, loss of productivity among the workforce, and maintenance of poverty. Genomes of the major helminth species that affect humans, and many others of agricultural and veterinary significance, are now the subject of intensive genome sequencing and annotation. Draft genome sequences of the filarial worm Brugia malayi and two of the human schistosomes, Schistosoma japonicum and S. mansoni, are now available, among others. These genome data will provide the basis for a comprehensive understanding of the molecular mechanisms involved in helminth nutrition and metabolism, host-dependent development and maturation, immune evasion, and evolution. They are likely also to predict new potential vaccine candidates and drug targets. In this review, we present an overview of these efforts and emphasize the potential impact and importance of these new findings. PMID:19855829

Status of dental health in chemical warfare victims: the case of Isfahan, Iran.

Science.gov (United States)

Mottaghi, Ahmad; Hoseinzade, Abolfath; Zamani, Elham; Araghizade, Habib Allah

2012-01-01

Little evidence is available regarding the dental health of victims of chemical warfare in Iran. Therefore, in this study, we examined the decayed, missing, and filled teeth index (DMFT), community periodontal index of treatment needs (CPITN), and saliva secretion rate of chemical warfare victims living in the province of Isfahan in Iran. This case-control study was conducted with 300 chemical warfare victims as the treatment group and 300 age-matched individuals without exposure to chemical warfare as the control group. DMFT and CPITN indices and saliva secretion rate were measured and compared between the two groups. Chemical warfare victims had significantly higher scores than the control group for decayed teeth (4.25 ± 3.88 vs 3.52 ± 2.81; P=0.009), missing teeth (8.79 ± 9.3 vs 6.15 ± 8.43; Pwarfare victims was significantly lower than that in the control group (1.71 ± 0.05 vs 3.85 ± 1.95 cc/5 min; PChemical warfare victims have relatively poor dental/oral health. Chemical injury might cause a dysfunction in saliva secretion, with decrease in saliva secretion increasing the risk for tooth decay and periodontal disorders. Further research is required to find out the exact underlying mechanisms and the factors associated with poor dental/oral health in chemical warfare victims.

Sequencing the CHO DXB11 genome reveals regional variations in genomic stability and haploidy

DEFF Research Database (Denmark)

Kaas, Christian Schrøder; Kristensen, Claus; Betenbaugh, Michael J.

2015-01-01

Background: The DHFR negative CHO DXB11 cell line (also known as DUX-B11 and DUKX) was historically the first CHO cell line to be used for large scale production of heterologous proteins and is still used for production of a number of complex proteins.  Results: Here we present the genomic sequence...... of the CHO DXB11 genome sequenced to a depth of 33x. Overall a significant genomic drift was seen favoring GC -> AT point mutations in line with the chemical mutagenesis strategy used for generation of the cell line. The sequencing depth for each gene in the genome revealed distinct peaks at sequencing...... in eight additional analyzed CHO genomes (15-20% haploidy) but not in the genome of the Chinese hamster. The dhfr gene is confirmed to be haploid in CHO DXB11; transcriptionally active and the remaining allele contains a G410C point mutation causing a Thr137Arg missense mutation. We find similar to 2...

77 FR 71561 - Health and Safety Data Reporting; Addition of Certain Chemicals

Science.gov (United States)

2012-12-03

...). Manufacturers of basic organic chemical products (except aromatic petrochemicals, industrial gases, synthetic... Health and Safety Data Reporting; Addition of Certain Chemicals AGENCY: Environmental Protection Agency... EPA. The Interagency Testing Committee (ITC), established under section 4(e) of the Toxic Substances...

Medicina genómica aplicada a la salud pública An overview in genomic medicine and public health

Directory of Open Access Journals (Sweden)

Ana Burguete

2009-01-01

Full Text Available La genómica, visualizada como una disciplina científica encargada del mapeo, secuenciación y análisis de los genomas, ha facilitado la identificación y comprensión de las formas de organización y función de los genes de los organismos, lo cual ha generado un amplio conocimiento de la estructura y la función de los genomas. La influencia de la genómica en la medicina ha creado una nueva visión acerca de la forma de percibir los episodios patológicos y fisiológicos, tras conocer la influencia de las variaciones genéticas sobre la susceptibilidad a la enfermedad. En la salud pública, mediante la epidemiología genética, el conocimiento genético ha promovido acciones individuales y poblacionales para evaluar el efecto de la distribución de los determinantes genéticos y su interacción con factores ambientales en la etiología de las enfermedades humanas. De modo adicional, la medicina genómica propone nuevos sistemas de diagnóstico, relaciones genéticas y alteraciones alimenticias, respuesta específica a diversos medicamentos y diseño de nuevos fármacos para grupos susceptibles. Sin embargo, los grandes avances de la medicina genómica en el campo de la salud aún son sólo promisorios.Genomics, as a scientific discipline responsible for genome maps, sequencing and functional analysis of genomes, allows for continually expanding knowledge of the structure and function of genomes. The influence of genomics on medicine generates a new perspective for how we perceive health and disease, knowing the influence of genetic variations on susceptibility to disease. In the area of public health, genetic epidemiology translates genetic knowledge into individual and public actions, evaluating the effect of the distribution of genetic determinants and their interaction with environmental factors involved in the etiology of human diseases. In addition, genomic medicine suggests new diagnostic systems, genetic associations and nutritional

JGI Fungal Genomics Program

Energy Technology Data Exchange (ETDEWEB)

Grigoriev, Igor V.

2011-03-14

Genomes of energy and environment fungi are in focus of the Fungal Genomic Program at the US Department of Energy Joint Genome Institute (JGI). Its key project, the Genomics Encyclopedia of Fungi, targets fungi related to plant health (symbionts, pathogens, and biocontrol agents) and biorefinery processes (cellulose degradation, sugar fermentation, industrial hosts), and explores fungal diversity by means of genome sequencing and analysis. Over 50 fungal genomes have been sequenced by JGI to date and released through MycoCosm (www.jgi.doe.gov/fungi), a fungal web-portal, which integrates sequence and functional data with genome analysis tools for user community. Sequence analysis supported by functional genomics leads to developing parts list for complex systems ranging from ecosystems of biofuel crops to biorefineries. Recent examples of such 'parts' suggested by comparative genomics and functional analysis in these areas are presented here

Genomic Encyclopedia of Fungi

Energy Technology Data Exchange (ETDEWEB)

Grigoriev, Igor

2012-08-10

Genomes of fungi relevant to energy and environment are in focus of the Fungal Genomic Program at the US Department of Energy Joint Genome Institute (JGI). Its key project, the Genomics Encyclopedia of Fungi, targets fungi related to plant health (symbionts, pathogens, and biocontrol agents) and biorefinery processes (cellulose degradation, sugar fermentation, industrial hosts), and explores fungal diversity by means of genome sequencing and analysis. Over 150 fungal genomes have been sequenced by JGI to date and released through MycoCosm (www.jgi.doe.gov/fungi), a fungal web-portal, which integrates sequence and functional data with genome analysis tools for user community. Sequence analysis supported by functional genomics leads to developing parts list for complex systems ranging from ecosystems of biofuel crops to biorefineries. Recent examples of such parts suggested by comparative genomics and functional analysis in these areas are presented here.

Holistic Nursing in the Genetic/Genomic Era.

Science.gov (United States)

Sharoff, Leighsa

2016-06-01

Holistic nursing practice is an ever-evolving transformative process with core values that require continued growth, professional leadership, and advocacy. Holistic nurses are required to stay current with all new required competencies, such as the Core Competencies in Genetics for Health Professional, and, as such, be adept at translating scientific evidence relating to genetics/genomics in the clinical setting. Knowledge of genetics/genomics in relation to nursing practice, policy, utilization, and research influence nurses' responsibilities. In addition to holistic nursing competencies, the holistic nurse must have basic knowledge and skills to integrate genetics/genomics aspects. It is important for holistic nurses to enhance their overall knowledge foundation, skills, and attitudes about genetics to prepare for the transformation in health care that is already underway. Holistic nurses can provide an important perspective to the application of genetics and genomics, focusing on health promotion, caring, and understanding the relationship between caring and families, community, and society. Yet there may be a lack of genetic and genomic knowledge to fully participate in the current genomic era. This article will explore the required core competencies for all health care professionals, share linkage of holistic nurses in practice with genetic/genomic conditions, and provide resources to further one's knowledge base. © The Author(s) 2015.

Chemical cycles and health risks of some crustal nuclides

International Nuclear Information System (INIS)

McKone, T.E.

1981-01-01

This dissertation describes and utilizes an approach for assessing long term health risks due to dispersion of naturally occurring radionuclide series and chemical toxins by normal and altered landscape chemical cycles. In particular, the health risks resulting from geochemical mobilizations of arsenic, lead, uranium and radium are considered. Based on a review of toxic waste hazard-measures and risk assessment studies, a general expression is developed for quantifying health risks imposed by the introduction of toxic materials to components of the total environment. This general measure deals with long term interactions within and between the internal human environment and the external biogeochemical environment. Health hazards are expressed as dose factors which convert environmental concentrations into a corresponding dose field (organ doses in rad for radionuclides; daily intake for toxic elements). The dose field is translated into population health risk expressed as lifetime cancer risk for carcinogens and average blood levels for other toxins. The landscape cell (or prism) is presented as a tool for visualizing and mapping toxic material cycles near the crustal surface. The overall process is incorporated in the GEOTOX code which is a geochemical systems model for describing the dynamics of crustal toxins within a landscape and the resulting health risks. GEOTOX is used to investigate the response of regional landscapes to increased soil and rock inventories of 238 U, 226 Ra, arsenic and lead. It is found that each decay series of element imposes a hazard by its behavior in the total environment that can not be quantified by a similar measure of toxicity

Fungal Genomics Program

Energy Technology Data Exchange (ETDEWEB)

Grigoriev, Igor

2012-03-12

The JGI Fungal Genomics Program aims to scale up sequencing and analysis of fungal genomes to explore the diversity of fungi important for energy and the environment, and to promote functional studies on a system level. Combining new sequencing technologies and comparative genomics tools, JGI is now leading the world in fungal genome sequencing and analysis. Over 120 sequenced fungal genomes with analytical tools are available via MycoCosm (www.jgi.doe.gov/fungi), a web-portal for fungal biologists. Our model of interacting with user communities, unique among other sequencing centers, helps organize these communities, improves genome annotation and analysis work, and facilitates new larger-scale genomic projects. This resulted in 20 high-profile papers published in 2011 alone and contributing to the Genomics Encyclopedia of Fungi, which targets fungi related to plant health (symbionts, pathogens, and biocontrol agents) and biorefinery processes (cellulose degradation, sugar fermentation, industrial hosts). Our next grand challenges include larger scale exploration of fungal diversity (1000 fungal genomes), developing molecular tools for DOE-relevant model organisms, and analysis of complex systems and metagenomes.

Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio.

Science.gov (United States)

Manolio, Teri A

2016-10-01

Increasing knowledge about the influence of genetic variation on human health and growing availability of reliable, cost-effective genetic testing have spurred the implementation of genomic medicine in the clinic. As defined by the National Human Genome Research Institute (NHGRI), genomic medicine uses an individual's genetic information in his or her clinical care, and has begun to be applied effectively in areas such as cancer genomics, pharmacogenomics, and rare and undiagnosed diseases. In 2011 NHGRI published its strategic vision for the future of genomic research, including an ambitious research agenda to facilitate and promote the implementation of genomic medicine. To realize this agenda, NHGRI is consulting and facilitating collaborations with the external research community through a series of "Genomic Medicine Meetings," under the guidance and leadership of the National Advisory Council on Human Genome Research. These meetings have identified and begun to address significant obstacles to implementation, such as lack of evidence of efficacy, limited availability of genomics expertise and testing, lack of standards, and difficulties in integrating genomic results into electronic medical records. The six research and dissemination initiatives comprising NHGRI's genomic research portfolio are designed to speed the evaluation and incorporation, where appropriate, of genomic technologies and findings into routine clinical care. Actual adoption of successful approaches in clinical care will depend upon the willingness, interest, and energy of professional societies, practitioners, patients, and payers to promote their responsible use and share their experiences in doing so. Published by Elsevier Ireland Ltd.

Responding to chemical weapons violations in Syria: legal, health, and humanitarian recommendations.

Science.gov (United States)

Brooks, Julia; Erickson, Timothy B; Kayden, Stephanie; Ruiz, Raul; Wilkinson, Stephen; Burkle, Frederick M

2018-01-01

The repeated use of prohibited chemical weapons in the Syrian conflict poses serious health, humanitarian, and security threats to civilians, healthcare personnel, and first responders. Moreover, the use of chemical weapons constitutes a clear and egregious violation of international law-likely amounting to a war crime-for which continued impunity is setting a dangerous precedent in relation to current and future conflicts. This debate article calls upon concerned states, organizations, and individuals to respond urgently and unequivocally to this serious breach of international legal and humanitarian norms. Based on health, humanitarian, and legal findings, this article calls for concrete action to: 1) reduce the risk of chemical weapons being used in current and future conflicts; 2) review and support the preparedness equipment and antidote supplies of first responders, humanitarian organizations, and military forces operating in Syria; 3) support international mechanisms for monitoring and enforcing the prohibition on chemical weapons, including through criminal accountability; 4) support civilian victims of chemical weapons attacks, including refugees; and 5) re-commit to the complete elimination of chemical weapons in compliance with the Chemical Weapons Convention (1993), a comprehensive treaty that bans chemical weapons and requires their complete destruction. All involved states and organizations should take urgent steps to ensure the protection of the most vulnerable victims of conflict, including victims of chemical weapons attacks in Syria, and to reinforce international law in the face of such serious violations.

75 FR 4402 - Notice of National Conversation on Public Health and Chemical Exposures Leadership Council...

Science.gov (United States)

2010-01-27

... National Conversation on Public Health and Chemical Exposures Leadership Council Conference Call Time and... the second meeting of the National Conversation on Public Health and Chemical Exposures Leadership... Leadership Council provides overall guidance to the National Conversation project and will be responsible for...

The U.S. National Health and Nutrition Examination Survey and human exposure to environmental chemicals.

Science.gov (United States)

Calafat, Antonia M

2012-02-01

Researchers are increasingly interested in using human biomonitoring - the measurement of chemicals, their metabolites or specific reaction products in biological specimens/body fluids - for investigating exposure to environmental chemicals. General population human biomonitoring programs are useful for investigating human exposure to environmental chemicals and an important tool for integrating environment and health. One of these programs, the National Health and Nutrition Examination Survey (NHANES), conducted in the United States is designed to collect data on the health and nutritional status of the noninstitutionalized, civilian U.S. population. NHANES includes a physical examination, collecting a detailed medical history, and collecting biological specimens (i.e., blood and urine). These biological specimens can be used to assess exposure to environmental chemicals. NHANES human biomonitoring data can be used to establish reference ranges for selected chemicals, provide exposure data for risk assessment, and monitor exposure trends. Published by Elsevier GmbH.

Multiplexed precision genome editing with trackable genomic barcodes in yeast.

Science.gov (United States)

Roy, Kevin R; Smith, Justin D; Vonesch, Sibylle C; Lin, Gen; Tu, Chelsea Szu; Lederer, Alex R; Chu, Angela; Suresh, Sundari; Nguyen, Michelle; Horecka, Joe; Tripathi, Ashutosh; Burnett, Wallace T; Morgan, Maddison A; Schulz, Julia; Orsley, Kevin M; Wei, Wu; Aiyar, Raeka S; Davis, Ronald W; Bankaitis, Vytas A; Haber, James E; Salit, Marc L; St Onge, Robert P; Steinmetz, Lars M

2018-07-01

Our understanding of how genotype controls phenotype is limited by the scale at which we can precisely alter the genome and assess the phenotypic consequences of each perturbation. Here we describe a CRISPR-Cas9-based method for multiplexed accurate genome editing with short, trackable, integrated cellular barcodes (MAGESTIC) in Saccharomyces cerevisiae. MAGESTIC uses array-synthesized guide-donor oligos for plasmid-based high-throughput editing and features genomic barcode integration to prevent plasmid barcode loss and to enable robust phenotyping. We demonstrate that editing efficiency can be increased more than fivefold by recruiting donor DNA to the site of breaks using the LexA-Fkh1p fusion protein. We performed saturation editing of the essential gene SEC14 and identified amino acids critical for chemical inhibition of lipid signaling. We also constructed thousands of natural genetic variants, characterized guide mismatch tolerance at the genome scale, and ascertained that cryptic Pol III termination elements substantially reduce guide efficacy. MAGESTIC will be broadly useful to uncover the genetic basis of phenotypes in yeast.

THE USE OF CHEMICALS IN THE FIELD OF FARM ANIMAL HEALTH (NUTRITION, ENTOMOLOGY, PATHOLOGY). AGRICULTURAL CHEMICALS TECHNOLOGY, NUMBER 7.

Science.gov (United States)

Ohio State Univ., Columbus. Center for Vocational and Technical Education.

DEVELOPED BY A NATIONAL TASK FORCE ON THE BASIS OF STATE STUDIES, THIS MODULE IS ONE OF A SERIES DESIGNED TO ASSIST TEACHERS IN PREPARING POST-SECONDARY STUDENTS FOR AGRICULTURAL CHEMICAL OCCUPATIONS. THE SPECIFIC OBJECTIVE OF THIS MODULE IS TO PREPARE TECHNICIANS IN THE FIELD OF THE USE OF CHEMICALS FOR ANIMAL HEALTH. SECTIONS INCLUDE -- (1)…

Genome technologies and personalized dental medicine.

Science.gov (United States)

Eng, G; Chen, A; Vess, T; Ginsburg, G S

2012-04-01

The addition of genomic information to our understanding of oral disease is driving important changes in oral health care. It is anticipated that genome-derived information will promote a deeper understanding of disease etiology and permit earlier diagnosis, allowing for preventative measures prior to disease onset rather than treatment that attempts to repair the diseased state. Advances in genome technologies have fueled expectations for this proactive healthcare approach. Application of genomic testing is expanding and has already begun to find its way into the practice of clinical dentistry. To take full advantage of the information and technologies currently available, it is vital that dental care providers, consumers, and policymakers be aware of genomic approaches to understanding of oral diseases and the application of genomic testing to disease diagnosis and treatment. Ethical, legal, clinical, and educational initiatives are also required to responsibly incorporate genomic information into the practice of dentistry. This article provides an overview of the application of genomic technologies to oral health care and introduces issues that require consideration if we are to realize the full potential of genomics to enable the practice of personalized dental medicine. © 2011 John Wiley & Sons A/S.

Health effects assessment of chemical exposures: ARIES methodology

Energy Technology Data Exchange (ETDEWEB)

Sierra, L; Montero, M.; Rabago, I.; Vidania, R.

1995-07-01

In this work, we present ARIES* update: a system designed in order to facilitate the human health effects assessment produced by accidental release of toxic chemicals. The first version of ARIES was developed in relation to 82/501/EEC Directive about mayor accidents in the chemical industry. So, the first aim was the support of the effects assessment derived for the chemicals included into this directive. From this establishment, it was considered acute exposures for high concentrations. In this report, we present the actual methodology for considering other type of exposures, such as environmental and occupational. Likewise other versions, the methodology comprises two approaches: quantitative and qualitative assessments. Quantitative assessment incorporates the mathematical algorithms useful to evaluate the effects produced by the most important routes of exposure: inhalation, ingestion, eye contact and skin absorption, in a short, medium and long term. It has been included models that realizes an accurate quantification of doses, effects,... and so on, such as simple approaches when the available information is not enough. Qualitative assessment, designed in order to complement or replace the previous one, is incorporated into an informatics system, developed in Clipper. It executes and displays outstanding and important toxicological information of about 100 chemicals. This information comes from ECDIN (Environmental Chemicals Data and Information Network) database through a collaboration with JRC-ISPRA working group. (Author) 24 refs.

Health effects assessment of chemical exposures: ARIES methodology

International Nuclear Information System (INIS)

Sierra, L; Montero, M.; Rabago, I.; Vidania, R.

1995-01-01

In this work, we present ARIES* update: a system designed in order to facilitate the human health effects assessment produced by accidental release of toxic chemicals. The first version of ARIES was developed in relation to 82/501/EEC Directive about mayor accidents in the chemical industry. So, the first aim was the support of the effects assessment derived for the chemicals included into this directive. From this establishment, it was considered acute exposures for high concentrations. In this report, we present the actual methodology for considering other type of exposures, such as environmental and occupational. Likewise other versions, the methodology comprises two approaches: quantitative and qualitative assessments. Quantitative assessment incorporates the mathematical algorithms useful to evaluate the effects produced by the most important routes of exposure: inhalation, ingestion, eye contact and skin absorption, in a short, medium and long term. It has been included models that realizes an accurate quantification of doses, effects,... and so on, such as simple approaches when the available information is not enough. Qualitative assessment, designed in order to complement or replace the previous one, is incorporated into an informatics system, developed in Clipper. It executes and displays outstanding and important toxicological information of about 100 chemicals. This information comes from ECDIN (Environmental Chemicals Data and Information Network) database through a collaboration with JRC-ISPRA working group. (Author) 24 refs

Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute’s genomic medicine portfolio

Science.gov (United States)

Manolio, Teri A.

2016-01-01

Increasing knowledge about the influence of genetic variation on human health and growing availability of reliable, cost-effective genetic testing have spurred the implementation of genomic medicine in the clinic. As defined by the National Human Genome Research Institute (NHGRI), genomic medicine uses an individual’s genetic information in his or her clinical care, and has begun to be applied effectively in areas such as cancer genomics, pharmacogenomics, and rare and undiagnosed diseases. In 2011 NHGRI published its strategic vision for the future of genomic research, including an ambitious research agenda to facilitate and promote the implementation of genomic medicine. To realize this agenda, NHGRI is consulting and facilitating collaborations with the external research community through a series of “Genomic Medicine Meetings,” under the guidance and leadership of the National Advisory Council on Human Genome Research. These meetings have identified and begun to address significant obstacles to implementation, such as lack of evidence of efficacy, limited availability of genomics expertise and testing, lack of standards, and diffficulties in integrating genomic results into electronic medical records. The six research and dissemination initiatives comprising NHGRI’s genomic research portfolio are designed to speed the evaluation and incorporation, where appropriate, of genomic technologies and findings into routine clinical care. Actual adoption of successful approaches in clinical care will depend upon the willingness, interest, and energy of professional societies, practitioners, patients, and payers to promote their responsible use and share their experiences in doing so. PMID:27612677

Uptake of chemicals from indoor air: Pathways and health effects

DEFF Research Database (Denmark)

Bekö, Gabriel

2016-01-01

Building occupants are exposed to manufactured chemicals. Exposure in the indoor environment can occur via non-dietary ingestion (e.g. indoor dust), inhalation and dermal absorption including dermal uptake directly from air. The extent of dermal uptake from air has been previously studied...... for volatile organic compounds (VOC). Not much is however known about its role for semivolatile organics (SVOC) and therefore this exposure pathway is often neglected in exposure assessments. Dermal uptake received attention with regards to contact transfer from contaminated surfaces. Recent modeling efforts...... intake from inhalation. Further experiments have been conducted with nicotine and the results are similar. Some of the SVOCs present indoors may have adverse health effects or are categorized as potential endocrine-disrupting compounds. It has been suggested that the health effects of a chemical may...

Preliminary Genomic Characterization of Ten Hardwood Tree Species from Multiplexed Low Coverage Whole Genome Sequencing.

Directory of Open Access Journals (Sweden)

Margaret Staton

Full Text Available Forest health issues are on the rise in the United States, resulting from introduction of alien pests and diseases, coupled with abiotic stresses related to climate change. Increasingly, forest scientists are finding genetic/genomic resources valuable in addressing forest health issues. For a set of ten ecologically and economically important native hardwood tree species representing a broad phylogenetic spectrum, we used low coverage whole genome sequencing from multiplex Illumina paired ends to economically profile their genomic content. For six species, the genome content was further analyzed by flow cytometry in order to determine the nuclear genome size. Sequencing yielded a depth of 0.8X to 7.5X, from which in silico analysis yielded preliminary estimates of gene and repetitive sequence content in the genome for each species. Thousands of genomic SSRs were identified, with a clear predisposition toward dinucleotide repeats and AT-rich repeat motifs. Flanking primers were designed for SSR loci for all ten species, ranging from 891 loci in sugar maple to 18,167 in redbay. In summary, we have demonstrated that useful preliminary genome information including repeat content, gene content and useful SSR markers can be obtained at low cost and time input from a single lane of Illumina multiplex sequence.

Designing a post-genomics knowledge ecosystem to translate pharmacogenomics into public health action.

Science.gov (United States)

Dove, Edward S; Faraj, Samer A; Kolker, Eugene; Ozdemir, Vural

2012-01-01

Translation of pharmacogenomics to public health action is at the epicenter of the life sciences agenda. Post-genomics knowledge is simultaneously co-produced at multiple scales and locales by scientists, crowd-sourcing and biological citizens. The latter are entrepreneurial citizens who are autonomous, self-governing and increasingly conceptualizing themselves in biological terms, ostensibly taking responsibility for their own health, and engaging in patient advocacy and health activism. By studying these heterogeneous 'scientific cultures', we can locate innovative parameters of collective action to move pharmacogenomics to practice (personalized therapeutics). To this end, we reconceptualize knowledge-based innovation as a complex ecosystem comprising 'actors' and 'narrators'. For robust knowledge translation, we require a nested post-genomics technology governance system composed of first-order narrators (for example, social scientists, philosophers, bioethicists) situated at arm's length from innovation actors (for example, pharmacogenomics scientists). Yet, second-order narrators (for example, an independent and possibly crowd-funded think-tank of citizen scholars, marginalized groups and knowledge end-users) are crucial to prevent first-order narrators from gaining excessive power that can be misused in the course of steering innovations. To operate such 'self-calibrating' and nested innovation ecosystems, we introduce the concept of 'wiki-governance' to enable mutual and iterative learning among innovation actors and first- and second-order narrators. '[A] scientific expert is someone who knows more and more about less and less, until finally knowing (almost) everything about (almost) nothing.' [1] 'Ubuntu: I am because you are.' [2].

Health risk assessments of DEHP released from chemical protective gloves.

Science.gov (United States)

Chao, Keh-Ping; Huang, Chan-Sheng; Wei, Chung-Ying

2015-01-01

The substance di-2-ethylhexyl phthalate (DEHP) is widely used as a plasticizer in chemical protective gloves to improve their flexibility and workability. However, it is possible that workers using protective gloves to handle various solvents may be exposed to DEHP leached by the solvents. Using an ASTM F739 permeation cell, it was found that BTEX solvents permeating through the glove samples dissolved DEHP from the gloves. Even without continuously contacting the permeant, DEHP was released from the contaminated glove samples during the desorption experiments. The DEHP leaching amounts were found to be inversely correlated to the permeability coefficients of BTEX in the glove samples. This result implied that the larger the amount of DEHP released from the glove samples, the higher the permeation resistance of gloves. Although chemical protective gloves provide adequate skin exposure protection to workers, the dermal exposure model developed herein indicates that leaching of DEHP from the glove samples may pose a potential health risk to the workers who handle BTEX. This study suggests that the selection of protective gloves should not only be concerned with the chemical resistance of the gloves but also the health risk associated with leaching of chemicals, such as DEHP, used in the manufacturing of the gloves. Copyright © 2014 Elsevier B.V. All rights reserved.

An investigation of the health hazards of some of the chemical ...

African Journals Online (AJOL)

This short piece takes a limited look at the health hazards of the chemical contents of seven fruit juices sold in The Gambia. All of them have very negative effects on health. The following additives were considered: sweeteners, coloring agents, flavoring agents and acidifiers vis-à-vis established studies. [African Journal of ...

Applied Genomics of Foodborne Pathogens

DEFF Research Database (Denmark)

and customized source of information designed for and accessible to microbiologists interested in applying cutting-edge genomics in food safety and public health research. This book fills this void with a well-selected collection of topics, case studies, and bioinformatics tools contributed by experts......This book provides a timely and thorough snapshot into the emerging and fast evolving area of applied genomics of foodborne pathogens. Driven by the drastic advance of whole genome shot gun sequencing (WGS) technologies, genomics applications are becoming increasingly valuable and even essential...... at the forefront of foodborne pathogen genomics research....

The genomic applications in practice and prevention network.

Science.gov (United States)

Khoury, Muin J; Feero, W Gregory; Reyes, Michele; Citrin, Toby; Freedman, Andrew; Leonard, Debra; Burke, Wylie; Coates, Ralph; Croyle, Robert T; Edwards, Karen; Kardia, Sharon; McBride, Colleen; Manolio, Teri; Randhawa, Gurvaneet; Rasooly, Rebekah; St Pierre, Jeannette; Terry, Sharon

2009-07-01

The authors describe the rationale and initial development of a new collaborative initiative, the Genomic Applications in Practice and Prevention Network. The network convened by the Centers for Disease Control and Prevention and the National Institutes of Health includes multiple stakeholders from academia, government, health care, public health, industry and consumers. The premise of Genomic Applications in Practice and Prevention Network is that there is an unaddressed chasm between gene discoveries and demonstration of their clinical validity and utility. This chasm is due to the lack of readily accessible information about the utility of most genomic applications and the lack of necessary knowledge by consumers and providers to implement what is known. The mission of Genomic Applications in Practice and Prevention Network is to accelerate and streamline the effective integration of validated genomic knowledge into the practice of medicine and public health, by empowering and sponsoring research, evaluating research findings, and disseminating high quality information on candidate genomic applications in practice and prevention. Genomic Applications in Practice and Prevention Network will develop a process that links ongoing collection of information on candidate genomic applications to four crucial domains: (1) knowledge synthesis and dissemination for new and existing technologies, and the identification of knowledge gaps, (2) a robust evidence-based recommendation development process, (3) translation research to evaluate validity, utility and impact in the real world and how to disseminate and implement recommended genomic applications, and (4) programs to enhance practice, education, and surveillance.

77 FR 74676 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2012-12-17

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4075, Bethesda.... 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: December 11, 2012. David...

76 FR 10909 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2011-02-28

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4076, MSC..., Human Genome Research, National Institutes of Health, HHS). Dated: February 18, 2011. Jennifer S. Spaeth...

77 FR 35991 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2012-06-15

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4075, Bethesda.... 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: June 8, 2012. Jennifer S...

75 FR 8977 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2010-02-26

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4076, MSC..., Human Genome Research, National Institutes of Health, HHS) Dated: February 18, 2010. Jennifer Spaeth...

Development of California Public Health Goals (PHGs) for chemicals in drinking water.

Science.gov (United States)

Howd, R A; Brown, J P; Morry, D W; Wang, Y Y; Bankowska, J; Budroe, J D; Campbell, M; DiBartolomeis, M J; Faust, J; Jowa, L; Lewis, D; Parker, T; Polakoff, J; Rice, D W; Salmon, A G; Tomar, R S; Fan, A M

2000-01-01

As part of a program for evaluation of environmental contaminants in drinking water, risk assessments are being conducted to develop Public Health Goals (PHGs) for chemicals in drinking water, based solely on public health considerations. California's Safe Drinking Water Act of 1996 mandated the development of PHGs for over 80 chemicals by 31 December 1999. The law allowed these levels to be set higher or lower than federal maximum contaminant levels (MCLs), including a level of zero if data are insufficient to determine a specific level. The estimated safe levels and toxicological rationale for the first 26 of these chemicals are described here. The chemicals include alachlor, antimony, benzo[a]pyrene, chlordane, copper, cyanide, dalapon, 1,2-dichlorobenzene, 1,4-dichlorobenzene, 2,4-D, diethylhexylphthalate, dinoseb, endothall, ethylbenzene, fluoride, glyphosate, lead, nitrate, nitrite, oxamyl, pentachlorophenol, picloram, trichlorofluoromethane, trichlorotrifluoroethane, uranium and xylene(s). These risk assessments are to be considered by the State of California in revising and developing state MCLs for chemicals in drinking water (which must not exceed federal MCLs). The estimates are also notable for incorporation or consideration of newer guidelines and principles for risk assessment extrapolations.

Human Genome Project

Energy Technology Data Exchange (ETDEWEB)

Block, S. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Cornwall, J. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Dally, W. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Dyson, F. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Fortson, N. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Joyce, G. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Kimble, H. J. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Lewis, N. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Max, C. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Prince, T. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Schwitters, R. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Weinberger, P. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Woodin, W. H. [The MITRE Corporation, McLean, VA (US). JASON Program Office

1998-01-04

The study reviews Department of Energy supported aspects of the United States Human Genome Project, the joint National Institutes of Health/Department of Energy program to characterize all human genetic material, to discover the set of human genes, and to render them accessible for further biological study. The study concentrates on issues of technology, quality assurance/control, and informatics relevant to current effort on the genome project and needs beyond it. Recommendations are presented on areas of the genome program that are of particular interest to and supported by the Department of Energy.

Controversy and debate on clinical genomics sequencing-paper 1: genomics is not exceptional: rigorous evaluations are necessary for clinical applications of genomic sequencing.

Science.gov (United States)

Wilson, Brenda J; Miller, Fiona Alice; Rousseau, François

2017-12-01

Next generation genomic sequencing (NGS) technologies-whole genome and whole exome sequencing-are now cheap enough to be within the grasp of many health care organizations. To many, NGS is symbolic of cutting edge health care, offering the promise of "precision" and "personalized" medicine. Historically, research and clinical application has been a two-way street in clinical genetics: research often driven directly by the desire to understand and try to solve immediate clinical problems affecting real, identifiable patients and families, accompanied by a low threshold of willingness to apply research-driven interventions without resort to formal empirical evaluations. However, NGS technologies are not simple substitutes for older technologies and need careful evaluation for use as screening, diagnostic, or prognostic tools. We have concerns across three areas. First, at the moment, analytic validity is unknown because technical platforms are not yet stable, laboratory quality assurance programs are in their infancy, and data interpretation capabilities are badly underdeveloped. Second, clinical validity of genomic findings for patient populations without pre-existing high genetic risk is doubtful, as most clinical experience with NGS technologies relates to patients with a high prior likelihood of a genetic etiology. Finally, we are concerned that proponents argue not only for clinically driven approaches to assessing a patient's genome, but also for seeking out variants associated with unrelated conditions or susceptibilities-so-called "secondary targets"-this is screening on a genomic scale. We argue that clinical uses of genomic sequencing should remain limited to specialist and research settings, that screening for secondary findings in clinical testing should be limited to the maximum extent possible, and that the benefits, harms, and economic implications of their routine use be systematically evaluated. All stakeholders have a responsibility to ensure that

Genomic sequencing in clinical trials

OpenAIRE

Mestan, Karen K; Ilkhanoff, Leonard; Mouli, Samdeep; Lin, Simon

2011-01-01

Abstract Human genome sequencing is the process by which the exact order of nucleic acid base pairs in the 24 human chromosomes is determined. Since the completion of the Human Genome Project in 2003, genomic sequencing is rapidly becoming a major part of our translational research efforts to understand and improve human health and disease. This article reviews the current and future directions of clinical research with respect to genomic sequencing, a technology that is just beginning to fin...

[Development of Plant Metabolomics and Medicinal Plant Genomics].

Science.gov (United States)

Saito, Kazuki

2018-01-01

 A variety of chemicals produced by plants, often referred to as 'phytochemicals', have been used as medicines, food, fuels and industrial raw materials. Recent advances in the study of genomics and metabolomics in plant science have accelerated our understanding of the mechanisms, regulation and evolution of the biosynthesis of specialized plant products. We can now address such questions as how the metabolomic diversity of plants is originated at the levels of genome, and how we should apply this knowledge to drug discovery, industry and agriculture. Our research group has focused on metabolomics-based functional genomics over the last 15 years and we have developed a new research area called 'Phytochemical Genomics'. In this review, the development of a research platform for plant metabolomics is discussed first, to provide a better understanding of the chemical diversity of plants. Then, representative applications of metabolomics to functional genomics in a model plant, Arabidopsis thaliana, are described. The extension of integrated multi-omics analyses to non-model specialized plants, e.g., medicinal plants, is presented, including the identification of novel genes, metabolites and networks for the biosynthesis of flavonoids, alkaloids, sulfur-containing metabolites and terpenoids. Further, functional genomics studies on a variety of medicinal plants is presented. I also discuss future trends in pharmacognosy and related sciences.

Health Outcomes of Exposure to Biological and Chemical Components of Inhalable and Respirable Particulate Matter.

Science.gov (United States)

Morakinyo, Oyewale Mayowa; Mokgobu, Matlou Ingrid; Mukhola, Murembiwa Stanley; Hunter, Raymond Paul

2016-06-14

Particulate matter (PM) is a key indicator of air pollution and a significant risk factor for adverse health outcomes in humans. PM is not a self-contained pollutant but a mixture of different compounds including chemical and biological fractions. While several reviews have focused on the chemical components of PM and associated health effects, there is a dearth of review studies that holistically examine the role of biological and chemical components of inhalable and respirable PM in disease causation. A literature search using various search engines and (or) keywords was done. Articles selected for review were chosen following predefined criteria, to extract and analyze data. The results show that the biological and chemical components of inhalable and respirable PM play a significant role in the burden of health effects attributed to PM. These health outcomes include low birth weight, emergency room visit, hospital admission, respiratory and pulmonary diseases, cardiovascular disease, cancer, non-communicable diseases, and premature death, among others. This review justifies the importance of each or synergistic effects of the biological and chemical constituents of PM on health. It also provides information that informs policy on the establishment of exposure limits for PM composition metrics rather than the existing exposure limits of the total mass of PM. This will allow for more effective management strategies for improving outdoor air quality.

Health Outcomes of Exposure to Biological and Chemical Components of Inhalable and Respirable Particulate Matter

Directory of Open Access Journals (Sweden)

Oyewale Mayowa Morakinyo

2016-06-01

Full Text Available Particulate matter (PM is a key indicator of air pollution and a significant risk factor for adverse health outcomes in humans. PM is not a self-contained pollutant but a mixture of different compounds including chemical and biological fractions. While several reviews have focused on the chemical components of PM and associated health effects, there is a dearth of review studies that holistically examine the role of biological and chemical components of inhalable and respirable PM in disease causation. A literature search using various search engines and (or keywords was done. Articles selected for review were chosen following predefined criteria, to extract and analyze data. The results show that the biological and chemical components of inhalable and respirable PM play a significant role in the burden of health effects attributed to PM. These health outcomes include low birth weight, emergency room visit, hospital admission, respiratory and pulmonary diseases, cardiovascular disease, cancer, non-communicable diseases, and premature death, among others. This review justifies the importance of each or synergistic effects of the biological and chemical constituents of PM on health. It also provides information that informs policy on the establishment of exposure limits for PM composition metrics rather than the existing exposure limits of the total mass of PM. This will allow for more effective management strategies for improving outdoor air quality.

A Taste of Algal Genomes from the Joint Genome Institute

Energy Technology Data Exchange (ETDEWEB)

Kuo, Alan; Grigoriev, Igor

2012-06-17

Algae play profound roles in aquatic food chains and the carbon cycle, can impose health and economic costs through toxic blooms, provide models for the study of symbiosis, photosynthesis, and eukaryotic evolution, and are candidate sources for bio-fuels; all of these research areas are part of the mission of DOE's Joint Genome Institute (JGI). To date JGI has sequenced, assembled, annotated, and released to the public the genomes of 18 species and strains of algae, sampling almost all of the major clades of photosynthetic eukaryotes. With more algal genomes currently undergoing analysis, JGI continues its commitment to driving forward basic and applied algal science. Among these ongoing projects are the pan-genome of the dominant coccolithophore Emiliania huxleyi, the interrelationships between the 4 genomes in the nucleomorph-containing Bigelowiella natans and Guillardia theta, and the search for symbiosis genes of lichens.

Genomics and infectious disease: a call to identify the ethical, legal and social implications for public health and clinical practice.

Science.gov (United States)

Geller, Gail; Dvoskin, Rachel; Thio, Chloe L; Duggal, Priya; Lewis, Michelle H; Bailey, Theodore C; Sutherland, Andrea; Salmon, Daniel A; Kahn, Jeffrey P

2014-01-01

Advances in genomics are contributing to the development of more effective, personalized approaches to the prevention and treatment of infectious diseases. Genetic sequencing technologies are furthering our understanding of how human and pathogen genomic factors - and their interactions - contribute to individual differences in immunologic responses to vaccines, infections and drug therapies. Such understanding will influence future policies and procedures for infectious disease management. With the potential for tailored interventions for particular individuals, populations or subpopulations, ethical, legal and social implications (ELSIs) may arise for public health and clinical practice. Potential considerations include balancing health-related benefits and harms between individuals and the larger community, minimizing threats to individual privacy and autonomy, and ensuring just distribution of scarce resources. In this Opinion, we consider the potential application of pathogen and host genomic information to particular viral infections that have large-scale public health consequences but differ in ELSI-relevant characteristics such as ease of transmission, chronicity, severity, preventability and treatability. We argue for the importance of anticipating these ELSI issues in advance of new scientific discoveries, and call for the development of strategies for identifying and exploring ethical questions that should be considered as clinical, public health and policy decisions are made.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Science.gov (United States)

Reuter, Miriam S; Walker, Susan; Thiruvahindrapuram, Bhooma; Whitney, Joe; Cohn, Iris; Sondheimer, Neal; Yuen, Ryan K C; Trost, Brett; Paton, Tara A; Pereira, Sergio L; Herbrick, Jo-Anne; Wintle, Richard F; Merico, Daniele; Howe, Jennifer; MacDonald, Jeffrey R; Lu, Chao; Nalpathamkalam, Thomas; Sung, Wilson W L; Wang, Zhuozhi; Patel, Rohan V; Pellecchia, Giovanna; Wei, John; Strug, Lisa J; Bell, Sherilyn; Kellam, Barbara; Mahtani, Melanie M; Bassett, Anne S; Bombard, Yvonne; Weksberg, Rosanna; Shuman, Cheryl; Cohn, Ronald D; Stavropoulos, Dimitri J; Bowdin, Sarah; Hildebrandt, Matthew R; Wei, Wei; Romm, Asli; Pasceri, Peter; Ellis, James; Ray, Peter; Meyn, M Stephen; Monfared, Nasim; Hosseini, S Mohsen; Joseph-George, Ann M; Keeley, Fred W; Cook, Ryan A; Fiume, Marc; Lee, Hin C; Marshall, Christian R; Davies, Jill; Hazell, Allison; Buchanan, Janet A; Szego, Michael J; Scherer, Stephen W

2018-02-05

The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. Volunteers were screened for eligibility and provided informed consent for open data sharing. Using blood DNA, we performed whole genome sequencing and identified all possible classes of DNA variants. A genetic counsellor explained the implication of the results to each participant. Whole genome sequencing of the first 56 participants identified 207 662 805 sequence variants and 27 494 copy number variations. We analyzed a prioritized disease-associated data set ( n = 1606 variants) according to standardized guidelines, and interpreted 19 variants in 14 participants (25%) as having obvious health implications. Six of these variants (e.g., in BRCA1 or mosaic loss of an X chromosome) were pathogenic or likely pathogenic. Seven were risk factors for cancer, cardiovascular or neurobehavioural conditions. Four other variants - associated with cancer, cardiac or neurodegenerative phenotypes - remained of uncertain significance because of discrepancies among databases. We also identified a large structural chromosome aberration and a likely pathogenic mitochondrial variant. There were 172 recessive disease alleles (e.g., 5 individuals carried mutations for cystic fibrosis). Pharmacogenomics analyses revealed another 3.9 potentially relevant genotypes per individual. Our analyses identified a spectrum of genetic variants with potential health impact in 25% of participants. When also considering recessive alleles and variants with potential pharmacologic relevance, all 56 participants had medically relevant findings. Although access is mostly limited to research, whole genome sequencing can provide specific and novel information with the potential of major impact for health care. © 2018 Joule Inc. or its licensors.

Genome projects and the functional-genomic era.

Science.gov (United States)

Sauer, Sascha; Konthur, Zoltán; Lehrach, Hans

2005-12-01

The problems we face today in public health as a result of the -- fortunately -- increasing age of people and the requirements of developing countries create an urgent need for new and innovative approaches in medicine and in agronomics. Genomic and functional genomic approaches have a great potential to at least partially solve these problems in the future. Important progress has been made by procedures to decode genomic information of humans, but also of other key organisms. The basic comprehension of genomic information (and its transfer) should now give us the possibility to pursue the next important step in life science eventually leading to a basic understanding of biological information flow; the elucidation of the function of all genes and correlative products encoded in the genome, as well as the discovery of their interactions in a molecular context and the response to environmental factors. As a result of the sequencing projects, we are now able to ask important questions about sequence variation and can start to comprehensively study the function of expressed genes on different levels such as RNA, protein or the cell in a systematic context including underlying networks. In this article we review and comment on current trends in large-scale systematic biological research. A particular emphasis is put on technology developments that can provide means to accomplish the tasks of future lines of functional genomics.

A Blueprint for Genomic Nursing Science

Science.gov (United States)

Calzone, Kathleen A.; Jenkins, Jean; Bakos, Alexis D.; Cashion, Ann; Donaldson, Nancy; Feero, Greg; Feetham, Suzanne; Grady, Patricia A.; Hinshaw, Ada Sue; Knebel, Ann R.; Robinson, Nellie; Ropka, Mary E.; Seibert, Diane; Stevens, Kathleen R.; Tully, Lois A.; Webb, Jo Ann

2012-01-01

Purpose This article reports on recommendations arising from an invitational workshop series held at the National Institutes of Health for the purposes of identifying critical genomics problems important to the health of the public that can be addressed through nursing science. The overall purpose of the Genomic Nursing State of the Science Initiative is to establish a nursing research blueprint based on gaps in the evidence and expert evaluation of the current state of the science and through public comment. Organizing Constructs A Genomic Nursing State of the Science Advisory Panel was convened in 2012 to develop the nursing research blueprint. The Advisory Panel, which met via two webinars and two in-person meetings, considered existing evidence from evidence reviews, testimony from key stakeholder groups, presentations from experts in research synthesis, and public comment. Findings The genomic nursing science blueprint arising from the Genomic Nursing State of Science Advisory Panel focuses on biologic plausibility studies as well as interventions likely to improve a variety of outcomes (e.g., clinical, economic, environmental). It also includes all care settings and diverse populations. The focus is on (a) the client, defined as person, family, community, or population; (b) the context, targeting informatics support systems, capacity building, education, and environmental influences; and (c) cross-cutting themes. It was agreed that building capacity to measure the impact of nursing actions on costs, quality, and outcomes of patient care is a strategic and scientific priority if findings are to be synthesized and aggregated to inform practice and policy. Conclusions The genomic nursing science blueprint provides the framework for furthering genomic nursing science to improve health outcomes. This blueprint is an independent recommendation of the Advisory Panel with input from the public and is not a policy statement of the National Institutes of Health or the

Chemical Elicitors of Antibiotic Biosynthesis in Actinomycetes

Directory of Open Access Journals (Sweden)

Anton P. Tyurin

2018-06-01

Full Text Available Whole genome sequencing of actinomycetes has uncovered a new immense realm of microbial chemistry and biology. Most biosynthetic gene clusters present in genomes were found to remain “silent” under standard cultivation conditions. Some small molecules—chemical elicitors—can be used to induce the biosynthesis of antibiotics in actinobacteria and to expand the chemical diversity of secondary metabolites. Here, we outline a brief account of the basic principles of the search for regulators of this type and their application.

Genomically Informed Surveillance for Carbapenem-Resistant Enterobacteriaceae in a Health Care System.

Science.gov (United States)

Pecora, Nicole D; Li, Ning; Allard, Marc; Li, Cong; Albano, Esperanza; Delaney, Mary; Dubois, Andrea; Onderdonk, Andrew B; Bry, Lynn

2015-07-28

Carbapenem-resistant Enterobacteriaceae (CRE) are an urgent public health concern. Rapid identification of the resistance genes, their mobilization capacity, and strains carrying them is essential to direct hospital resources to prevent spread and improve patient outcomes. Whole-genome sequencing allows refined tracking of both chromosomal traits and associated mobile genetic elements that harbor resistance genes. To enhance surveillance of CREs, clinical isolates with phenotypic resistance to carbapenem antibiotics underwent whole-genome sequencing. Analysis of 41 isolates of Klebsiella pneumoniae and Enterobacter cloacae, collected over a 3-year period, identified K. pneumoniae carbapenemase (KPC) genes encoding KPC-2, -3, and -4 and OXA-48 carbapenemases. All occurred within transposons, including multiple Tn4401 transposon isoforms, embedded within more than 10 distinct plasmids representing incompatibility (Inc) groups IncR, -N, -A/C, -H, and -X. Using short-read sequencing, draft maps were generated of new KPC-carrying vectors, several of which were derivatives of the IncN plasmid pBK31551. Two strains also had Tn4401 chromosomal insertions. Integrated analyses of plasmid profiles and chromosomal single-nucleotide polymorphism (SNP) profiles refined the strain patterns and provided a baseline hospital mobilome to facilitate analysis of new isolates. When incorporated with patient epidemiological data, the findings identified limited outbreaks against a broader 3-year period of sporadic external entry of many different strains and resistance vectors into the hospital. These findings highlight the utility of genomic analyses in internal and external surveillance efforts to stem the transmission of drug-resistant strains within and across health care institutions. We demonstrate how detection of resistance genes within mobile elements and resistance-carrying strains furthers active surveillance efforts for drug resistance. Whole-genome sequencing is increasingly

76 FR 29772 - National Human Genome Research Institute; Notice of Closed Meetings

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2011-05-23

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research... of Scientific Review, National Human Genome Research Institute, National Institutes of Health...

77 FR 5035 - National Human Genome Research Institute; Notice of Closed Meetings

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2012-02-01

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research... Officer, Scientific Review Branch, National Human Genome Research Institute, National Institutes of Health...

Childhood Cancer Genomics (PDQ®)—Health Professional Version

Science.gov (United States)

Genomic findings have been useful in the identification of subsets of patients that have distinct biological features and clinical characteristics (such as prognosis) for some pediatric cancers. Learn about the genomic alterations associated with central nervous system, leukemia, lymphoma, liver, sarcoma, neuroblastoma, retinoblastoma, melanoma, kidney, and thyroid cancers in children in this comprehensive summary for clinicians.

75 FR 8374 - National Human Genome Research Institute; Notice of Closed Meeting

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2010-02-24

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Officer, Scientific Review Branch, National Human Genome Research Institute, National Institutes of Health...

78 FR 64222 - National Human Genome Research Institute; Notice of Closed Meetings

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2013-10-28

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research... Review, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, 301...

78 FR 21382 - National Human Genome Research Institute; Notice of Closed Meeting

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2013-04-10

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... applications. Place: National Human Genome Research Institute, Suite 4076, 5635 Fisher's Lane, Bethesda, MD..., National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4075...

77 FR 8268 - National Human Genome Research Institute; Notice of Closed Meetings

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2012-02-14

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... applications. Place: National Human Genome Research Institute, 5635 Fisher's Lane, Room 4076, Rockville, MD..., CIDR, National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite...

75 FR 19984 - National Human Genome Research Institute; Notice of Closed Meetings

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2010-04-16

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane, Suite 4075... Nakamura, PhD, Scientific Review Officer, Scientific Review Branch, National Human Genome Research...

77 FR 71604 - National Human Genome Research Institute; Notice of Closed Meeting

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2012-12-03

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special..., Scientific Review Branch, National Human Genome Research Institute, National Institutes of Health, 5635...

75 FR 53703 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2010-09-01

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., Scientific Review Branch, National Human Genome Research Institute, National Institutes of Health, 5635.... (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of...

Genomic interrogation of mechanism(s) underlying cellular responses to toxicants

International Nuclear Information System (INIS)

Amin, Rupesh P.; Hamadeh, Hisham K.; Bushel, Pierre R.; Bennett, Lee; Afshari, Cynthia A.; Paules, Richard S.

2002-01-01

Assessment of the impact of xenobiotic exposure on human health and disease progression is complex. Knowledge of mode(s) of action, including mechanism(s) contributing to toxicity and disease progression, is valuable for evaluating compounds. Toxicogenomics, the subdiscipline which merges genomics with toxicology, holds the promise to contributing significantly toward the goal of elucidating mechanism(s) by studying genome-wide effects of xenobiotics. Global gene expression profiling, revolutionized by microarray technology and a crucial aspect of a toxicogenomic study, allows measuring transcriptional modulation of thousands of genes following exposure to a xenobiotic. We use our results from previous studies on compounds representing two different classes of xenobiotics (barbiturate and peroxisome proliferator) to discuss the application of computational approaches for analyzing microarray data to elucidate mechanism(s) underlying cellular responses to toxicants. In particular, our laboratory demonstrated that chemical-specific patterns of gene expression can be revealed using cDNA microarrays. Transcript profiling provides discrimination between classes of toxicants, as well as, genome-wide insight into mechanism(s) of toxicity and disease progression. Ultimately, the expectation is that novel approaches for predicting xenobiotic toxicity in humans will emerge from such information

75 FR 56115 - National Human Genome Research Institute; Notice of Closed Meeting

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2010-09-15

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS...

77 FR 31863 - National Human Genome Research Institute; Notice of Closed Meeting

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2012-05-30

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special..., Human Genome Research, National Institutes of Health, HHS) Dated: May 22, 2012. Jennifer S. Spaeth...

76 FR 66731 - National Human Genome Research Institute; Notice of Closed Meeting

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2011-10-27

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: October 21, 2011...

76 FR 36930 - National Human Genome Research Institute; Notice of Closed Meeting

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2011-06-23

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special..., Human Genome Research, National Institutes of Health, HHS) Dated: June 17, 2011. Jennifer S. Spaeth...

77 FR 61770 - National Human Genome Research Institute; Notice of Closed Meeting

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2012-10-11

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Assistance Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS) [[Page 61771...

76 FR 63932 - National Human Genome Research Institute; Notice of Closed Meeting

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2011-10-14

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Assistance Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: October 7...

75 FR 67380 - National Human Genome Research Institute; Notice of Closed Meeting

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2010-11-02

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Review Branch, National Human Genome Research Institute, National Institutes of Health, 5635 Fishers Lane.... (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of...

Assessing our multi-pollutant burden: environmental chemical exposures and reproductive and child health

NARCIS (Netherlands)

Lenters, V.C.

2017-01-01

Humans are invariably exposed to a myriad of synthetic chemicals on a daily basis through their diet, consumer products, and via the ambient environment. Exposure also occurs in early life as many chemicals transfer from maternal stores into breast milk and across the placenta. However, the health

76 FR 66076 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2011-10-25

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Call). Contact Person: Camilla E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome... Assistance Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: October 19...

75 FR 80509 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2010-12-22

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Call). Contact Person: Camilla E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome... Assistance Program Nos. 93.172, Human Genome Research, National Institutes of Health, HHS) Dated: December 16...

[Personal genomics: are we debating the right Issues?].

Science.gov (United States)

Vayena, E; Mauch, F

2012-07-25

The debate about personal genomics and their role in personalized medicine has been, to some extent, hijacked by the controversy about commercially available genomic tests sold directly to consumers. The clinical validity and utility of such tests are currently limited and most medical associations recommend that consumers refrain from testing. Conversely, DTC genomics proponents and particularly the DTC industry argue that there is personal utility in acquiring genomic information. While it is necessary to debate risks and benefits of DTC genomics, we should not lose sight of the increasingly important role that genomics will play in medical practice and public health. Therefore, and in anticipation of this shift we also need to focus on important implications from the use of genomics information such as genetic discrimination, privacy protection and equitable access to health care. Undoubtedly, personal genomics will challenge our social norms maybe more than our medicine. Sticking to the polarization of «to have or not to have DTC genomics» risks to takes us away from the critical issues we need to be debating.

The genome of Eucalyptus grandis

Energy Technology Data Exchange (ETDEWEB)

Myburg, Alexander A.; Grattapaglia, Dario; Tuskan, Gerald A.; Hellsten, Uffe; Hayes, Richard D.; Grimwood, Jane; Jenkins, Jerry; Lindquist, Erika; Tice, Hope; Bauer, Diane; Goodstein, David M.; Dubchak, Inna; Poliakov, Alexandre; Mizrachi, Eshchar; Kullan, Anand R. K.; Hussey, Steven G.; Pinard, Desre; van der Merwe, Karen; Singh, Pooja; van Jaarsveld, Ida; Silva-Junior, Orzenil B.; Togawa, Roberto C.; Pappas, Marilia R.; Faria, Danielle A.; Sansaloni, Carolina P.; Petroli, Cesar D.; Yang, Xiaohan; Ranjan, Priya; Tschaplinski, Timothy J.; Ye, Chu-Yu; Li, Ting; Sterck, Lieven; Vanneste, Kevin; Murat, Florent; Soler, Marçal; Clemente, Hélène San; Saidi, Naijib; Cassan-Wang, Hua; Dunand, Christophe; Hefer, Charles A.; Bornberg-Bauer, Erich; Kersting, Anna R.; Vining, Kelly; Amarasinghe, Vindhya; Ranik, Martin; Naithani, Sushma; Elser, Justin; Boyd, Alexander E.; Liston, Aaron; Spatafora, Joseph W.; Dharmwardhana, Palitha; Raja, Rajani; Sullivan, Christopher; Romanel, Elisson; Alves-Ferreira, Marcio; Külheim, Carsten; Foley, William; Carocha, Victor; Paiva, Jorge; Kudrna, David; Brommonschenkel, Sergio H.; Pasquali, Giancarlo; Byrne, Margaret; Rigault, Philippe; Tibbits, Josquin; Spokevicius, Antanas; Jones, Rebecca C.; Steane, Dorothy A.; Vaillancourt, René E.; Potts, Brad M.; Joubert, Fourie; Barry, Kerrie; Pappas, Georgios J.; Strauss, Steven H.; Jaiswal, Pankaj; Grima-Pettenati, Jacqueline; Salse, Jérôme; Van de Peer, Yves; Rokhsar, Daniel S.; Schmutz, Jeremy

2014-06-11

Eucalypts are the world s most widely planted hardwood trees. Their broad adaptability, rich species diversity, fast growth and superior multipurpose wood, have made them a global renewable resource of fiber and energy that mitigates human pressures on natural forests. We sequenced and assembled >94% of the 640 Mbp genome of Eucalyptus grandis into its 11 chromosomes. A set of 36,376 protein coding genes were predicted revealing that 34% occur in tandem duplications, the largest proportion found thus far in any plant genome. Eucalypts also show the highest diversity of genes for plant specialized metabolism that act as chemical defence against biotic agents and provide unique pharmaceutical oils. Resequencing of a set of inbred tree genomes revealed regions of strongly conserved heterozygosity, likely hotspots of inbreeding depression. The resequenced genome of the sister species E. globulus underscored the high inter-specific genome colinearity despite substantial genome size variation in the genus. The genome of E. grandis is the first reference for the early diverging Rosid order Myrtales and is placed here basal to the Eurosids. This resource expands knowledge on the unique biology of large woody perennials and provides a powerful tool to accelerate comparative biology, breeding and biotechnology.

Co-Exposure with Fullerene May Strengthen Health Effects of Organic Industrial Chemicals

DEFF Research Database (Denmark)

Lehto, M.; Karilainen, T.; Rog, T.

2014-01-01

In vitro toxicological studies together with atomistic molecular dynamics simulations show that occupational co-exposure with C-60 fullerene may strengthen the health effects of organic industrial chemicals. The chemicals studied are acetophenone, benzaldehyde, benzyl alcohol, m-cresol, and toluene...... which can be used with fullerene as reagents or solvents in industrial processes. Potential co-exposure scenarios include a fullerene dust and organic chemical vapor, or a fullerene solution aerosolized in workplace air. Unfiltered and filtered mixtures of C-60 and organic chemicals represent different...... co-exposure scenarios in in vitro studies where acute cytotoxicity and immunotoxicity of C-60 and organic chemicals are tested together and alone by using human THP-1-derived macrophages. Statistically significant co-effects are observed for an unfiltered mixture of benzaldehyde and C-60 that is more...

From Utopia to Science: Challenges of Personalised Genomics Information for Health Management and Health Enhancement

Science.gov (United States)

2009-01-01

From 1900 onwards, scientists and novelists have explored the contours of a future society based on the use of “anthropotechnologies” (techniques applicable to human beings for the purpose of performance enhancement ranging from training and education to genome-based biotechnologies). Gradually but steadily, the technologies involved migrated from (science) fiction into scholarly publications, and from “utopia” (or “dystopia”) into science. Building on seminal ideas borrowed from Nietzsche, Peter Sloterdijk has outlined the challenges inherent in this development. Since time immemorial, and at least since the days of Plato’s Academy, human beings have been interested in possibilities for (physical or mental) performance enhancement. We are constantly trying to improve ourselves, both collectively and individually, for better or for worse. At present, however, new genomics-based technologies are opening up new avenues for self-amelioration. Developments in research facilities using animal models may to a certain extent be seen as expeditions into our own future. Are we able to address the bioethical and biopolitical issues awaiting us? After analyzing and assessing Sloterdijk’s views, attention will shift to a concrete domain of application, namely sport genomics. For various reasons, top athletes are likely to play the role of genomics pioneers by using personalized genomics information to adjust diet, life-style, training schedules and doping intake to the strengths and weaknesses of their personalized genome information. Thus, sport genomics may be regarded as a test bed where the contours of genomics-based self-management are tried out. PMID:20234832

77 FR 2735 - National Human Genome Research Institute; Notice of Meetings

Science.gov (United States)

2012-01-19

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... personal privacy. Name of Committee: National Advisory Council for Human Genome Research. Date: February 13... Extramural Research National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076, MSC 9305...

75 FR 51828 - National Human Genome Research Institute; Notice of Meetings

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2010-08-23

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... personal privacy. Name of Committee: National Advisory Council for Human Genome Research. Date: February 7... Research, National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076, MSC 9305, Bethesda, MD...

Comparative Effectiveness Research, Genomics-Enabled Personalized Medicine, and Rapid Learning Health Care: A Common Bond

Science.gov (United States)

Ginsburg, Geoffrey S.; Kuderer, Nicole M.

2012-01-01

Despite stunning advances in our understanding of the genetics and the molecular basis for cancer, many patients with cancer are not yet receiving therapy tailored specifically to their tumor biology. The translation of these advances into clinical practice has been hindered, in part, by the lack of evidence for biomarkers supporting the personalized medicine approach. Most stakeholders agree that the translation of biomarkers into clinical care requires evidence of clinical utility. The highest level of evidence comes from randomized controlled clinical trials (RCTs). However, in many instances, there may be no RCTs that are feasible for assessing the clinical utility of potentially valuable genomic biomarkers. In the absence of RCTs, evidence generation will require well-designed cohort studies for comparative effectiveness research (CER) that link detailed clinical information to tumor biology and genomic data. CER also uses systematic reviews, evidence-quality appraisal, and health outcomes research to provide a methodologic framework for assessing biologic patient subgroups. Rapid learning health care (RLHC) is a model in which diverse data are made available, ideally in a robust and real-time fashion, potentially facilitating CER and personalized medicine. Nonetheless, to realize the full potential of personalized care using RLHC requires advances in CER and biostatistics methodology and the development of interoperable informatics systems, which has been recognized by the National Cancer Institute's program for CER and personalized medicine. The integration of CER methodology and genomics linked to RLHC should enhance, expedite, and expand the evidence generation required for fully realizing personalized cancer care. PMID:23071236

The environmental injustice of beauty: framing chemical exposures from beauty products as a health disparities concern.

Science.gov (United States)

Zota, Ami R; Shamasunder, Bhavna

2017-10-01

The obstetrics-gynecology community has issued a call to action to prevent toxic environmental chemical exposures and their threats to healthy human reproduction. Recent committee opinions recognize that vulnerable and underserved women may be impacted disproportionately by environmental chemical exposures and recommend that reproductive health professionals champion policies that secure environmental justice. Beauty product use is an understudied source of environmental chemical exposures. Beauty products can include reproductive and developmental toxicants such as phthalates and heavy metals; however, disclosure requirements are limited and inconsistent. Compared with white women, women of color have higher levels of beauty product-related environmental chemicals in their bodies, independent of socioeconomic status. Even small exposures to toxic chemicals during critical periods of development (such as pregnancy) can trigger adverse health consequences (such as impacts on fertility and pregnancy, neurodevelopment, and cancer). In this commentary, we seek to highlight the connections between environmental justice and beauty product-related chemical exposures. We describe racial/ethnic differences in beauty product use (such as skin lighteners, hair straighteners, and feminine hygiene products) and the potential chemical exposures and health risks that are associated with these products. We also discuss how targeted advertising can take advantage of mainstream beauty norms to influence the use of these products. Reproductive health professionals can use this information to advance environmental justice by being prepared to counsel patients who have questions about toxic environmental exposures from beauty care products and other sources. Researchers and healthcare providers can also promote health-protective policies such as improved ingredient testing and disclosure for the beauty product industry. Future clinical and public health research should consider beauty

77 FR 2304 - National Human Genome Research Institute; Notice of Meeting

Science.gov (United States)

2012-01-17

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome....S.C. 281(d)(4)), notice is hereby given that the National Human Genome Research Institute (NHGRI... meeting of the National Advisory Council for Human Genome Research. Background materials on the proposed...

77 FR 64816 - National Human Genome Research Institute; Notice of Meeting

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2012-10-23

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute. The meeting will be open to the public as indicated below, with... invasion of personal privacy. Name of Committee: Board of Scientific Counselors, National Human Genome...

75 FR 2147 - National Human Genome Research Institute; Notice of Meetings

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2010-01-14

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Council for Human Genome Research. The meetings will be open to the public as indicated below, with... Extramural Research, National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076, MSC 9305...

76 FR 65204 - National Human Genome Research Institute; Notice of Meeting

Science.gov (United States)

2011-10-20

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute. The meeting will be open to the public as indicated below, with... invasion of personal privacy. Name of Committee: Board of Scientific Counselors, National Human Genome...

75 FR 60467 - National Human Genome Research Institute; Notice of Meeting

Science.gov (United States)

2010-09-30

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., National Human Genome Research Institute. The meeting will be open to the public as indicated below, with... invasion of personal privacy. Name of Committee: Board of Scientific Counselors, National Human Genome...

Genetics, health care, and public policy: an introduction to public health genetics

National Research Council Canada - National Science Library

Stewart, Alison

2007-01-01

... initiative About this book Further reading and resources Principles of public health The emergence of public health genetics The human genome project and 'genomic medicine' Community genetics Current developments in public health genetics Genomics and global health 2 Genetic science and technology Basic molecular genetics Genes and the geno...

Human and animal health risk assessments of chemicals in the food chain: Comparative aspects and future perspectives

International Nuclear Information System (INIS)

Dorne, J.L.C.M.; Fink-Gremmels, J.

2013-01-01

Chemicals from anthropogenic and natural origins enter animal feed, human food and water either as undesirable contaminants or as part of the components of a diet. Over the last five decades, considerable efforts and progress to develop methodologies to protect humans and animals against potential risks associated with exposure to such potentially toxic chemicals have been made. This special issue presents relevant methodological developments and examples of risk assessments of undesirable substances in the food chain integrating the animal health and the human health perspective and refers to recent Opinions of the Scientific Panel on Contaminants in the Food Chain (CONTAM) of the European Food Safety Authority (EFSA). This introductory review aims to give a comparative account of the risk assessment steps used in human health and animal health risk assessments for chemicals in the food chain and provides a critical view of the data gaps and future perspectives for this cross-disciplinary field. - Highlights: ► Principles of human and animal health risk assessment. ► Data gaps for each step of animal health risk assessment. ► Implications of animal risk assessment on human risk assessment. ► Future perspectives on chemical risk assessment

Human and animal health risk assessments of chemicals in the food chain: Comparative aspects and future perspectives

Energy Technology Data Exchange (ETDEWEB)

Dorne, J.L.C.M., E-mail: jean-lou.dorne@efsa.europa.eu [Emerging Risk Unit, Via Carlo Magno 1A, 43126 Parma (Italy); Fink-Gremmels, J. [Utrecht University, Faculty of Veterinary Medicine, Institute for Risk Assessment Sciences, Yalelaan 104, 3584 CM Utrecht (Netherlands)

2013-08-01

Chemicals from anthropogenic and natural origins enter animal feed, human food and water either as undesirable contaminants or as part of the components of a diet. Over the last five decades, considerable efforts and progress to develop methodologies to protect humans and animals against potential risks associated with exposure to such potentially toxic chemicals have been made. This special issue presents relevant methodological developments and examples of risk assessments of undesirable substances in the food chain integrating the animal health and the human health perspective and refers to recent Opinions of the Scientific Panel on Contaminants in the Food Chain (CONTAM) of the European Food Safety Authority (EFSA). This introductory review aims to give a comparative account of the risk assessment steps used in human health and animal health risk assessments for chemicals in the food chain and provides a critical view of the data gaps and future perspectives for this cross-disciplinary field. - Highlights: ► Principles of human and animal health risk assessment. ► Data gaps for each step of animal health risk assessment. ► Implications of animal risk assessment on human risk assessment. ► Future perspectives on chemical risk assessment.

Organic chemicals jeopardize the health of freshwater ecosystems on the continental scale.

Science.gov (United States)

Malaj, Egina; von der Ohe, Peter C; Grote, Matthias; Kühne, Ralph; Mondy, Cédric P; Usseglio-Polatera, Philippe; Brack, Werner; Schäfer, Ralf B

2014-07-01

Organic chemicals can contribute to local and regional losses of freshwater biodiversity and ecosystem services. However, their overall relevance regarding larger spatial scales remains unknown. Here, we present, to our knowledge, the first risk assessment of organic chemicals on the continental scale comprising 4,000 European monitoring sites. Organic chemicals were likely to exert acute lethal and chronic long-term effects on sensitive fish, invertebrate, or algae species in 14% and 42% of the sites, respectively. Of the 223 chemicals monitored, pesticides, tributyltin, polycyclic aromatic hydrocarbons, and brominated flame retardants were the major contributors to the chemical risk. Their presence was related to agricultural and urban areas in the upstream catchment. The risk of potential acute lethal and chronic long-term effects increased with the number of ecotoxicologically relevant chemicals analyzed at each site. As most monitoring programs considered in this study only included a subset of these chemicals, our assessment likely underestimates the actual risk. Increasing chemical risk was associated with deterioration in the quality status of fish and invertebrate communities. Our results clearly indicate that chemical pollution is a large-scale environmental problem and requires far-reaching, holistic mitigation measures to preserve and restore ecosystem health.

ChemiRs: a web application for microRNAs and chemicals.

Science.gov (United States)

Su, Emily Chia-Yu; Chen, Yu-Sing; Tien, Yun-Cheng; Liu, Jeff; Ho, Bing-Ching; Yu, Sung-Liang; Singh, Sher

2016-04-18

MicroRNAs (miRNAs) are about 22 nucleotides, non-coding RNAs that affect various cellular functions, and play a regulatory role in different organisms including human. Until now, more than 2500 mature miRNAs in human have been discovered and registered, but still lack of information or algorithms to reveal the relations among miRNAs, environmental chemicals and human health. Chemicals in environment affect our health and daily life, and some of them can lead to diseases by inferring biological pathways. We develop a creditable online web server, ChemiRs, for predicting interactions and relations among miRNAs, chemicals and pathways. The database not only compares gene lists affected by chemicals and miRNAs, but also incorporates curated pathways to identify possible interactions. Here, we manually retrieved associations of miRNAs and chemicals from biomedical literature. We developed an online system, ChemiRs, which contains miRNAs, diseases, Medical Subject Heading (MeSH) terms, chemicals, genes, pathways and PubMed IDs. We connected each miRNA to miRBase, and every current gene symbol to HUGO Gene Nomenclature Committee (HGNC) for genome annotation. Human pathway information is also provided from KEGG and REACTOME databases. Information about Gene Ontology (GO) is queried from GO Online SQL Environment (GOOSE). With a user-friendly interface, the web application is easy to use. Multiple query results can be easily integrated and exported as report documents in PDF format. Association analysis of miRNAs and chemicals can help us understand the pathogenesis of chemical components. ChemiRs is freely available for public use at http://omics.biol.ntnu.edu.tw/ChemiRs .

77 FR 59933 - National Human Genome Research Institute; Notice of Closed Meetings

Science.gov (United States)

2012-10-01

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research....D., Scientific Review Officer, Scientific Review Branch, National Human Genome Research Institute...

RadGenomics project

Energy Technology Data Exchange (ETDEWEB)

Iwakawa, Mayumi; Imai, Takashi; Harada, Yoshinobu [National Inst. of Radiological Sciences, Chiba (Japan). Frontier Research Center] [and others

2002-06-01

Human health is determined by a complex interplay of factors, predominantly between genetic susceptibility, environmental conditions and aging. The ultimate aim of the RadGenomics (Radiation Genomics) project is to understand the implications of heterogeneity in responses to ionizing radiation arising from genetic variation between individuals in the human population. The rapid progression of the human genome sequencing and the recent development of new technologies in molecular genetics are providing us with new opportunities to understand the genetic basis of individual differences in susceptibility to natural and/or artificial environmental factors, including radiation exposure. The RadGenomics project will inevitably lead to improved protocols for personalized radiotherapy and reductions in the potential side effects of such treatment. The project will contribute to future research into the molecular mechanisms of radiation sensitivity in humans and will stimulate the development of new high-throughput technologies for a broader application of biological and medical sciences. The staff members are specialists in a variety of fields, including genome science, radiation biology, medical science, molecular biology, and informatics, and have joined the RadGenomics project from various universities, companies, and research institutes. The project started in April 2001. (author)

RadGenomics project

International Nuclear Information System (INIS)

Iwakawa, Mayumi; Imai, Takashi; Harada, Yoshinobu

2002-01-01

Human health is determined by a complex interplay of factors, predominantly between genetic susceptibility, environmental conditions and aging. The ultimate aim of the RadGenomics (Radiation Genomics) project is to understand the implications of heterogeneity in responses to ionizing radiation arising from genetic variation between individuals in the human population. The rapid progression of the human genome sequencing and the recent development of new technologies in molecular genetics are providing us with new opportunities to understand the genetic basis of individual differences in susceptibility to natural and/or artificial environmental factors, including radiation exposure. The RadGenomics project will inevitably lead to improved protocols for personalized radiotherapy and reductions in the potential side effects of such treatment. The project will contribute to future research into the molecular mechanisms of radiation sensitivity in humans and will stimulate the development of new high-throughput technologies for a broader application of biological and medical sciences. The staff members are specialists in a variety of fields, including genome science, radiation biology, medical science, molecular biology, and informatics, and have joined the RadGenomics project from various universities, companies, and research institutes. The project started in April 2001. (author)

an investigation of the health hazards of some of the chemical ...

African Journals Online (AJOL)

Temechegn

This short piece takes a limited look at the health hazards of the chemical contents of ... With this in mind, the researchers purchased all the powdered fruit juices sold in ... Administration (FDA) or some other regulatory body for low toxicity, ...

77 FR 58402 - National Human Genome Research Institute; Notice of Closed Meetings

Science.gov (United States)

2012-09-20

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research...: To review and evaluate grant applications. Place: National Human Genome Research Institute, 5635...

78 FR 55752 - National Human Genome Research Institute; Notice of Closed Meetings

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2013-09-11

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research.... Pozzatti, Ph.D., Scientific Review Officer, Scientific Review Branch, National Human Genome Research...

78 FR 56905 - National Human Genome Research Institute; Notice of Closed Meeting

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2013-09-16

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research....m. Agenda: To review and evaluate grant applications. Place: National Human Genome Research...

78 FR 107 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2013-01-02

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... evaluate grant applications. Place: National Human Genome Research Institute, 3rd Floor Conference Room....D., Scientific Review Officer, Scientific Review Branch, National Human Genome Research Institute...

Leadership, Literacy, and Translational Expertise in Genomics: Challenges and Opportunities for Social Work.

Science.gov (United States)

Werner-Lin, Allison; McCoyd, Judith L M; Doyle, Maya H; Gehlert, Sarah J

2016-08-01

The transdisciplinary field of genomics is revolutionizing conceptualizations of health, mental health, family formation, and public policy. Many professions must rapidly acquire genomic expertise to maintain state-of-the-art knowledge in their practice. Calls for social workers to build genomic capacity come regularly, yet social work education has not prepared practitioners to join the genomics workforce in providing socially just, ethically informed care to all clients, particularly those from vulnerable and marginalized groups. The authors suggest a set of action steps for bringing social work skills and practice into the 21st century. They propose that good genomic practice entails bringing social work values, skills, and behaviors to genomics. With education and training, social workers may facilitate socially just dissemination of genomic knowledge and services across practice domains. Increased genomic literacy will support the profession's mission to address disparities in health, health care access, and mortality. © 2016 National Association of Social Workers.

77 FR 60706 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2012-10-04

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special.... Nakamura, Ph.D., Scientific Review Officer, Scientific Review Branch, National Human Genome Research...

77 FR 20646 - National Human Genome Research Institute; Notice of Closed Meetings

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2012-04-05

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research.... Agenda: To review and evaluate grant applications. Place: National Human Genome Research Institute, 5635...

78 FR 20933 - National Human Genome Research Institute; Notice of Closed Meeting

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2013-04-08

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... review and evaluate grant applications. Place: National Human Genome Research Institute, Room 3055, 5635...

76 FR 22112 - National Human Genome Research Institute; Notice of Closed Meeting

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2011-04-20

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special....nih.gov . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

78 FR 31953 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2013-05-28

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... review and evaluate grant applications. Place: National Human Genome Research Institute, 3rd Floor...

75 FR 10488 - National Human Genome Research Institute; Notice of Closed Meetings

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2010-03-08

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research...- 4280, [email protected]gov . Name of Committee: National Human Genome Research Institute Special...

76 FR 65204 - National Human Genome Research Institute; Notice of Closed Meetings

Science.gov (United States)

2011-10-20

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome... Review Officer, Scientific Review Branch, National Human Genome Research Institute, 5635 Fishers Lane...

75 FR 8373 - National Human Genome Research Institute; Notice of Closed Meeting

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2010-02-24

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

77 FR 12604 - National Human Genome Research Institute; Notice of Closed Meetings

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2012-03-01

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. >Name of Committee: National Human Genome Research... review and evaluate contract proposals. Place: National Human Genome Reseach Institute, 5635 Fishers Lane...

77 FR 22332 - National Human Genome Research Institute; Notice of Closed Meeting

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2012-04-13

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special.... Agenda: To review and evaluate grant applications. Place: National Human Genome Research Institute, 5635...

76 FR 28056 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2011-05-13

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Counselors, National Human Genome Research Institute. The meeting will be closed to the public as indicated... National Human Genome Research Institute, including consideration of personnel qualifications and...

76 FR 3642 - National Human Genome Research Institute; Notice of Closed Meetings

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2011-01-20

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research....nih.gov . Name of Committee: National Human Genome Research Institute Special Emphasis Panel eMERGE...

76 FR 17930 - National Human Genome Research Institute; Notice of Closed Meeting

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2011-03-31

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Review Officer, Scientific Review Branch, National Human Genome Research Institute, 5635 Fishers Lane...

75 FR 52537 - National Human Genome Research Institute; Notice of Closed Meeting

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2010-08-26

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial....nih.gov . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

76 FR 58023 - National Human Genome Research Institute; Notice of Closed Meeting

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2011-09-19

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial..., Scientific Review Officer, Office of Scientific Review, National Human Genome Research Institute, National...

76 FR 28056 - National Human Genome Research Institute; Notice of Closed Meetings

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2011-05-13

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research... D. Nakamura, PhD, Scientific Review Officer, Office of Scientific Review, National Human Genome...

75 FR 2148 - National Human Genome Research Institute; Notice of Closed Meeting

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2010-01-14

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial....nih.gov . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

77 FR 28888 - National Human Genome Research Institute Notice of Closed Meeting

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2012-05-16

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial...: To review and evaluate grant applications. Place: National Human Genome Research Institute, 3635...

78 FR 70063 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2013-11-22

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Counselors, National Human Genome Research Institute. The meeting will be closed to the public as indicated... NATIONAL HUMAN GENOME RESEARCH INSTITUTE, including consideration of personnel qualifications and...

78 FR 9707 - National Human Genome Research Institute; Notice of Closed Meetings

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2013-02-11

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... clearly unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research... Officer, Scientific Review Branch, National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076...

76 FR 5390 - National Human Genome Research Institute; Notice of Closed Meeting

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2011-01-31

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Place: National Human Genome Research Institute Special Emphasis... Officer, Scientific Review Branch, National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076...

75 FR 13558 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2010-03-22

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Counselors, National Human Genome Research Institute. The meeting will be closed to the public as indicated... National Human Genome Research Institute, including consideration of personnel qualifications and...

75 FR 32957 - National Human Genome Research Institute; Notice of Closed Meeting

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2010-06-10

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... funding cycle. (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

78 FR 14806 - National Human Genome Research Institute; Notice of Closed Meeting

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2013-03-07

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... p.m. Agenda: To review and evaluate grant applications. Place: National Human Genome Research...

The Front Line of Genomic Translation

International Nuclear Information System (INIS)

O'Neill, C. S.; McBride, C. M.; Koehly, L. M.; Bryan, A. D.; Wideroff, L.

2012-01-01

Cancer prevention, detection, and treatment represent the front line of genomic translation. Increasingly, new genomic knowledge is being used to inform personalized cancer prevention recommendations and treatment [1-3]. Genomic applications proposed and realized span the full cancer continuum, from cancer prevention and early detection vis a vis genomic risk profiles to motivate behavioral risk reduction and adherence [4] to screening and prophylactic prevention recommendations for high-risk families [5-7], to enhancing cancer survivorship by using genomic tumor profiles to inform treatment decisions and targeted cancer therapies [8, 9]. Yet the utility for many of these applications is as yet unclear and will be influenced heavily by the public’s, patients’, and health care providers’ responses and in numerous other factors, such as health care delivery models [3]. The contributors to this special issue consider various target groups’ responses and contextual factors. To reflect the cancer continuum, the special issue is divided into three broad, overlapping themes-primary prevention, high risk families and family communication and clinical translation.

Assembly of viral genomes from metagenomes

NARCIS (Netherlands)

S.L. Smits (Saskia); R. Bodewes (Rogier); A. Ruiz-Gonzalez (Aritz); V. Baumgärtner (Volkmar); M.P.G. Koopmans D.V.M. (Marion); A.D.M.E. Osterhaus (Albert); A. Schürch (Anita)

2014-01-01

textabstractViral infections remain a serious global health issue. Metagenomic approaches are increasingly used in the detection of novel viral pathogens but also to generate complete genomes of uncultivated viruses. In silico identification of complete viral genomes from sequence data would allow

Military chemical warfare agent human subjects testing: part 2--long-term health effects among participants of U.S. military chemical warfare agent testing.

Science.gov (United States)

Brown, Mark

2009-10-01

Military chemical warfare agent testing from World War I to 1975 produced thousands of veterans with concerns about how their participation affected their health. A companion article describes the history of these experiments, and how the lack of clinical data hampers evaluation of long-term health consequences. Conversely, much information is available about specific agents tested and their long-term health effects in other populations, which may be invaluable for helping clinicians respond effectively to the health care and other needs of affected veterans. The following review describes tested agents and their known long-term health consequences. Although hundreds of chemicals were tested, they fall into only about a half-dozen pharmaceutical classes, including common pharmaceuticals; anticholinesterase agents including military nerve agents and pesticides; anticholinergic glycolic acid esters such as atropine; acetylcholine reactivators such as 2-PAM; psychoactive compounds including cannabinoids, phencyclidine, and LSD; and irritants including tear gas and riot control agents.

Chemical and UV Mutagenesis.

Science.gov (United States)

Bose, Jeffrey L

2016-01-01

The ability to create mutations is an important step towards understanding bacterial physiology and virulence. While targeted approaches are invaluable, the ability to produce genome-wide random mutations can lead to crucial discoveries. Transposon mutagenesis is a useful approach, but many interesting mutations can be missed by these insertions that interrupt coding and noncoding sequences due to the integration of an entire transposon. Chemical mutagenesis and UV-based random mutagenesis are alternate approaches to isolate mutations of interest with the potential of only single nucleotide changes. Once a standard method, difficulty in identifying mutation sites had decreased the popularity of this technique. However, thanks to the recent emergence of economical whole-genome sequencing, this approach to making mutations can once again become a viable option. Therefore, this chapter provides an overview protocol for random mutagenesis using UV light or DNA-damaging chemicals.

76 FR 19780 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2011-04-08

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome Research Institute, National... . (Catalogue of Federal Domestic Assistance Program No. 93.172, Human Genome Research, National Institutes of...

76 FR 3917 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2011-01-21

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Branch, National Human Genome Research Institute, 5635 Fishers Lane, Suite 4076, MSC 9306, Rockville, MD...

76 FR 3643 - National Human Genome Research Institute; Notice of Closed Meeting

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2011-01-20

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial... . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of...

78 FR 24223 - National Human Genome Research Institute; Notice of Closed Meeting

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2013-04-24

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial...: To review and evaluate grant applications. Place: National Human Genome Research Institute, 3rd floor...

76 FR 35224 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2011-06-16

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome...). Contact Person: Camilla E. Day, PhD, Scientific Review Officer, CIR, National Human Genome Research..., [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

76 FR 22407 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2011-04-21

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special.... (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of...

75 FR 48977 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2010-08-12

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome.... Contact Person: Camilla E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome Research..., [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

75 FR 26762 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2010-05-12

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Initial... . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research, National Institutes of...

75 FR 35821 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2010-06-23

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Person: Camilla E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome Research [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

78 FR 47715 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2013-08-06

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Person: Camilla E. Day, Ph.D., Scientific Review Officer, CIDR, National Human Genome Research [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

76 FR 79199 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2011-12-21

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome.... Contact Person: Camilla E. Day, Ph.D., Scientific Review Officer, CIDR, National Human Genome Research..., [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human Genome Research...

75 FR 52538 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2010-08-26

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Person: Ken D. Nakamura, PhD, Scientific Review Officer, Scientific Review Branch, National Human Genome...

76 FR 35223 - National Human Genome Research Institute; Notice of Closed Meeting

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2011-06-16

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... Person: Rudy O. Pozzatti, PhD, Scientific Review Officer, Scientific Review Branch, National Human Genome...

Important sources and chemical species of ambient fine particles related to adverse health effects

Science.gov (United States)

Heo, J.

2017-12-01

Although many epidemiological studies have reported that exposure to ambient fine particulate matter (PM2.5) has been linked to increases in mortality and mobidity health outcomes, the key question of which chemical species and sources of PM2.5 are most harmful to public health remains unanswered in the air pollution research area. This study was designed to address the key question with evaluating the risks of exposure to chemical species and source-specific PM2.5 mass on morbidity. Hourly measurements of PM2.5 mass and its major chemical species, including organic carbon, elemental carbon, ions, and trace elements, were observed from January 1 to December 31, 2013 at four of the PM2.5 supersites in urban environments in Korea and the reuslts were used in a positive matrix factorization to estimate source contributions to PM2.5 mass. Nine sources, including secondary sulfate, secondary nitrate, mobile, biomass burning, roadway emission, industry, oil combustion, soil, and aged sea salt, were identified and secondary inorganic aerosol factors (i.e. secondary sulfalte, and secondary nitrate) were the dominant sources contributing to 40% of the total PM2.5 mass in the study region. In order to evaluate the risks of exposure to chemical species and sources of PM2.5 on morbidity, emergency room visits for cardivascular disease and respiratory disease were considered. Hourly health outcomes were compared with hourly measurments of the PM2.5 chemical species and sources using a poission generalized linear model incorporating natural splines, as well as time-stratified case-crossover design. The PM2.5 mass and speveral chemical components, such as organic carbon, elemetal carbon, zinc, and potassium, were strongly associated with morbidity. Source-apporitionmened PM2.5 mass derived from biomass burning, and mobile sources, was significantly associated with cardiovascular and respiratory diseases. The findings represent that local combustion may be particularly important

Chemical incidents resulted in hazardous substances releases in the context of human health hazards

Directory of Open Access Journals (Sweden)

Anna Pałaszewska-Tkacz

2017-02-01

Full Text Available Objectives: The research purpose was to analyze data concerning chemical incidents in Poland collected in 1999–2009 in terms of health hazards. Material and Methods: The data was obtained, using multimodal information technology (IT system, from chemical incidents reports prepared by rescuers at the scene. The final analysis covered sudden events associated with uncontrolled release of hazardous chemical substances or mixtures, which may potentially lead to human exposure. Releases of unidentified substances where emergency services took action to protect human health or environment were also included. Results: The number of analyzed chemical incidents in 1999–2009 was 2930 with more than 200 different substances released. The substances were classified into 13 groups of substances and mixtures posing analogous risks. Most common releases were connected with non-flammable corrosive liquids, including: hydrochloric acid (199 cases, sulfuric(VI acid (131 cases, sodium and potassium hydroxides (69 cases, ammonia solution (52 cases and butyric acid (32 cases. The next group were gases hazardous only due to physico-chemical properties, including: extremely flammable propane-butane (249 cases and methane (79 cases. There was no statistically significant trend associated with the total number of incidents. Only with the number of incidents with flammable corrosive, toxic and/or harmful liquids, the regression analysis revealed a statistically significant downward trend. The number of victims reported was 1997, including 1092 children and 18 fatalities. Conclusions: The number of people injured, number of incidents and the high 9th place of Poland in terms of the number of Seveso establishments, and 4 times higher number of hazardous industrial establishments not covered by the Seveso Directive justify the need for systematic analysis of hazards and their proper identification. It is advisable enhance health risk assessment, both qualitative and

Assessment of a chemical pollutant on workers’ health in a vehicle manufacturing factory

Directory of Open Access Journals (Sweden)

M. Asadi-Lari

2008-10-01

Full Text Available Background and aims   Occupational diseases impose considerable burden on public health, wherein chemical pollutants in working places play an important role. One of chemical pollutants  in vehicle's lock & key assembly factories is cyanoacrylate used in" loctite glue", which is assumed harmful to workers' eyes, respiratory tract and skin. This study investigates the side effects of loctite adhesive on workers' health.   Methods   Across sectional study was conducted on all of workers of the vehicle's lock & key  assembly factory (100 workers. A health check list was completed for demographic   characteristics, and physical examination for all of workers and then all data were analysed using  statistical tests.   Results   Mean age of workers was 30± 8. In physical exam, the most common dermatologic  disease was dermatitis (prevalence: 25% , in pulmonary exam the most common sign was airway hyper-responsiveness, which presented as cough and dispnea (prevalence: 10% and there was a significant relationship between workers' eye itching & burning , airway hyper-responsiveness  and loctite adhesive exposure (P<0.01.   Conclusion   Eye itching & burning and airway hyper-responsiveness are side effects of loctite  glue. In this study we observed a relationship between the glue and disorders, hence due to the influence of this chemical material on workers' health. Results indicated that a health promotion   plan and relevant interventions should be designed to reduce exposure to loctite adhesive.

Chemical toxicity and radiological health detriment associated with the inhalation of various enrichments of uranium

International Nuclear Information System (INIS)

3C Limited, Queen Square House, 18-21 Queen Square, Bristol BS1 4NH (United Kingdom))" data-affiliation=" (SR3C Limited, Queen Square House, 18-21 Queen Square, Bristol BS1 4NH (United Kingdom))" >Bryant, P A

2014-01-01

The occupational risks associated with the chemical toxicity of uranium can be overlooked during the processing, handling and storage of the material, as the radioactivity of the material is often used alone to assess the health consequences of exposure to uranium compounds. This note provides a summary of the current United Kingdom occupational standards for uranium based on radiation dose and/or chemical toxicity with a particular focus on intake via inhalation. A simple model is subsequently presented to allow a comparison to be drawn between the occupational exposure standard for chemical toxicity and radiological dose limit. Using these data a set of suggested limits on occupational exposure to airborne uranium is proposed that indicate where the legal annual radiological dose limit for workers or the Health and Safety Executive occupational exposure standard for chemical toxicity are at risk of being breached. (note)

Chemical incidents resulted in hazardous substances releases in the context of human health hazards.

OpenAIRE

Palaszewska-Tkacz, Anna; Czerczak, Sławomir; Konieczko, Katarzyna

2017-01-01

Objectives: The research purpose was to analyze data concerning chemical incidents in Poland collected in 1999–2009 in terms of health hazards. Material and Methods: The data was obtained, using multimodal information technology (IT) system, from chemical incidents reports prepared by rescuers at the scene. The final analysis covered sudden events associated with uncontrolled release of hazardous chemical substances or mixtures, which may potentially lead to human exposure. Releases of uniden...

78 FR 61851 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2013-10-04

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... unwarranted invasion of personal privacy. Name of Committee: National Human Genome Research Institute Special... a.m. to 4:00 p.m. Agenda: To review and evaluate grant applications. Place: National Human Genome...

Bridging the divide between genomic science and indigenous peoples.

Science.gov (United States)

Jacobs, Bette; Roffenbender, Jason; Collmann, Jeff; Cherry, Kate; Bitsói, LeManuel Lee; Bassett, Kim; Evans, Charles H

2010-01-01

The new science of genomics endeavors to chart the genomes of individuals around the world, with the dual goals of understanding the role genetic factors play in human health and solving problems of disease and disability. From the perspective of indigenous peoples and developing countries, the promises and perils of genomic science appear against a backdrop of global health disparity and political vulnerability. These conditions pose a dilemma for many communities when attempting to decide about participating in genomic research or any other biomedical research. Genomic research offers the possibility of improved technologies for managing the acute and chronic diseases that plague their members. Yet, the history of particularly biomedical research among people in indigenous and developing nations offers salient examples of unethical practice, misuse of data, and failed promises. This dilemma creates risks for communities who decide either to participate or not to participate in genomic science research. Some argue that the history of poor scientific practice justifies refusal to join genomic research projects. Others argue that disease poses such great threats to the well-being of people in indigenous communities and developing nations that not participating in genomic research risks irrevocable harm. Thus, some communities particularly among indigenous peoples have declined to participate as subjects in genomic research. At the same time, some communities have begun developing new guidelines, procedures, and practices for engaging with the scientific community that offer opportunities to bridge the gap between genomic science and indigenous and/or developing communities. Four new approaches warrant special attention and further support: consulting with local communities; negotiating the complexities of consent; training members of local communities in science and health care; and training scientists to work with indigenous communities. Implicit is a new

12C. Environmental Chemical Exposure: Endocrine System Effects and Clinical Health Implications

OpenAIRE

Cohen, Aly

2013-01-01

Focus Area: Pediatrics Every day, the United States alone uses or imports about 42 million pounds of synthetic chemicals. There are more than 84 000 compounds approved for commercial use in the United States, most of which have never been tested for toxicity. A 2011 policy statement issued by the American Academy of Pediatrics acknowledges that the large quantities of chemicals that enter commerce could be harmful to children's health and development. The contribution of many of these chemica...

75 FR 52355 - Draft National Conversation on Public Health and Chemical Exposures Work Group Reports...

Science.gov (United States)

2010-08-25

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Draft National Conversation on Public Health and Chemical Exposures Work Group Reports; Opportunity for Public Comment AGENCY.../nationalconversation/work_groups.html . For additional information on the National Conversation on Public Health and...

78 FR 66752 - National Human Genome Research Institute; Amended Notice of Meeting

Science.gov (United States)

2013-11-06

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... National Human Genome Research Institute Special Emphasis Panel, October 15, 2013, 01:00 p.m. to October 15, 2013, 02:30 p.m., National Human Genome Research Institute, 5635 Fishers Lane, Suite 3055, Rockville...

Attitudes towards personal genomics among older Swiss adults: An exploratory study

Directory of Open Access Journals (Sweden)

Laura Mählmann

2016-03-01

Conclusion: This study indicates a relatively positive overall attitude towards personal genomic testing among older Swiss adults, a group not typically represented in surveys about personal genomics. Genomic data of older adults can be highly relevant to late life health and maintenance of quality of life. In addition they can be an invaluable source for better understanding of longevity, health and disease. Understanding the attitudes of this population towards genomic analyses, although important, remains under-examined.

Fueling the Future with Fungal Genomes

Energy Technology Data Exchange (ETDEWEB)

Grigoriev, Igor V.

2014-10-27

Genomes of fungi relevant to energy and environment are in focus of the JGI Fungal Genomic Program. One of its projects, the Genomics Encyclopedia of Fungi, targets fungi related to plant health (symbionts and pathogens) and biorefinery processes (cellulose degradation and sugar fermentation) by means of genome sequencing and analysis. New chapters of the Encyclopedia can be opened with user proposals to the JGI Community Science Program (CSP). Another JGI project, the 1000 fungal genomes, explores fungal diversity on genome level at scale and is open for users to nominate new species for sequencing. Over 400 fungal genomes have been sequenced by JGI to date and released through MycoCosm (www.jgi.doe.gov/fungi), a fungal web-portal, which integrates sequence and functional data with genome analysis tools for user community. Sequence analysis supported by functional genomics will lead to developing parts list for complex systems ranging from ecosystems of biofuel crops to biorefineries. Recent examples of such ‘parts’ suggested by comparative genomics and functional analysis in these areas are presented here.

Reproductive Toxic Chemicals at Work and Efforts to Protect Workers' Health: A Literature Review

Directory of Open Access Journals (Sweden)

Kyung-Taek Rim

2017-06-01

Full Text Available A huge number of chemicals are produced and used in the world, and some of them can have negative effects on the reproductive health of workers. To date, most chemicals and work environments have not been studied for their potential to have damaging effects on the workers' reproductive system. Because of the lack of information, many workers may not be aware that such problems can be related to occupational exposures. Newly industrialized countries such as Republic of Korea have rapidly amassed chemicals and other toxicants that pose health hazards, especially to the reproductive systems of workers. This literature review provides an overview of peer-reviewed literature regarding the teratogenic impact and need for safe handling of chemicals. Literature searches were performed using PubMed, Google Scholar, and ScienceDirect. Search strategies were narrowed based on author expertise and 100 articles were chosen for detailed analysis. A total of 47 articles met prespecified inclusion criteria. The majority of papers contained studies that were descriptive in nature with respect to the Medical Subject Headings (MeSH terms and keywords: “reproductive and heath or hazard and/or workplace or workers or occupations.” In the absence of complete information about the safe occupational handling of chemicals in Republic of Korea (other than a material safety data sheet, this review serves as a valuable reference for identifying and remedying potential gaps in relevant regulations. The review also proposes other public health actions including hazard surveillance and primary prevention activities such as reduction, substitution, ventilation, as well as protective equipment.

Reproductive Toxic Chemicals at Work and Efforts to Protect Workers' Health: A Literature Review.

Science.gov (United States)

Rim, Kyung-Taek

2017-06-01

A huge number of chemicals are produced and used in the world, and some of them can have negative effects on the reproductive health of workers. To date, most chemicals and work environments have not been studied for their potential to have damaging effects on the workers' reproductive system. Because of the lack of information, many workers may not be aware that such problems can be related to occupational exposures. Newly industrialized countries such as Republic of Korea have rapidly amassed chemicals and other toxicants that pose health hazards, especially to the reproductive systems of workers. This literature review provides an overview of peer-reviewed literature regarding the teratogenic impact and need for safe handling of chemicals. Literature searches were performed using PubMed, Google Scholar, and ScienceDirect. Search strategies were narrowed based on author expertise and 100 articles were chosen for detailed analysis. A total of 47 articles met prespecified inclusion criteria. The majority of papers contained studies that were descriptive in nature with respect to the Medical Subject Headings (MeSH) terms and keywords: "reproductive and heath or hazard and/or workplace or workers or occupations." In the absence of complete information about the safe occupational handling of chemicals in Republic of Korea (other than a material safety data sheet), this review serves as a valuable reference for identifying and remedying potential gaps in relevant regulations. The review also proposes other public health actions including hazard surveillance and primary prevention activities such as reduction, substitution, ventilation, as well as protective equipment.

Health Care Infrastructure for Financially Sustainable Clinical Genomics.

Science.gov (United States)

Lennerz, Jochen K; McLaughlin, Heather M; Baron, Jason M; Rasmussen, David; Sumbada Shin, Meini; Berners-Lee, Nancy; Miller Batten, Julie; Swoboda, Kathryn J; Gala, Manish K; Winter, Harland S; Schmahmann, Jeremy D; Sweetser, David A; Boswell, Marianne; Pacula, Maciej; Stenzinger, Albrecht; Le, Long P; Hynes, William; Rehm, Heidi L; Klibanski, Anne; Black-Schaffer, Stephen W; Golden, Jeffrey A; Louis, David N; Weiss, Scott T; Iafrate, A John

2016-09-01

Next-generation sequencing has evolved technically and economically into the method of choice for interrogating the genome in cancer and inherited disorders. The introduction of procedural code sets for whole-exome and genome sequencing is a milestone toward financially sustainable clinical implementation; however, achieving reimbursement is currently a major challenge. As part of a prospective quality-improvement initiative to implement the new code sets, we adopted Agile, a development methodology originally devised in software development. We implemented eight functionally distinct modules (request review, cost estimation, preauthorization, accessioning, prebilling, testing, reporting, and reimbursement consultation) and obtained feedback via an anonymous survey. We managed 50 clinical requests (January to June 2015). The fraction of pursued-to-requested cases (n = 15/50; utilization management fraction, 0.3) aimed for a high rate of preauthorizations. In 13 of 15 patients the insurance plan required preauthorization, which we obtained in 70% and ultimately achieved reimbursement in 50%. Interoperability enabled assessment of 12 different combinations of modules that underline the importance of an adaptive workflow and policy tailoring to achieve higher yields of reimbursement. The survey confirmed a positive attitude toward self-organizing teams. We acknowledge the individuals and their interactions and termed the infrastructure: human pipeline. Nontechnical barriers currently are limiting the scope and availability of clinical genomic sequencing. The presented human pipeline is one approach toward long-term financial sustainability of clinical genomics. Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

Using Genomics for Natural Product Structure Elucidation.

Science.gov (United States)

Tietz, Jonathan I; Mitchell, Douglas A

2016-01-01

Natural products (NPs) are the most historically bountiful source of chemical matter for drug development-especially for anti-infectives. With insights gleaned from genome mining, interest in natural product discovery has been reinvigorated. An essential stage in NP discovery is structural elucidation, which sheds light not only on the chemical composition of a molecule but also its novelty, properties, and derivatization potential. The history of structure elucidation is replete with techniquebased revolutions: combustion analysis, crystallography, UV, IR, MS, and NMR have each provided game-changing advances; the latest such advance is genomics. All natural products have a genetic basis, and the ability to obtain and interpret genomic information for structure elucidation is increasingly available at low cost to non-specialists. In this review, we describe the value of genomics as a structural elucidation technique, especially from the perspective of the natural product chemist approaching an unknown metabolite. Herein we first introduce the databases and programs of interest to the natural products chemist, with an emphasis on those currently most suited for general usability. We describe strategies for linking observed natural product-linked phenotypes to their corresponding gene clusters. We then discuss techniques for extracting structural information from genes, illustrated with numerous case examples. We also provide an analysis of the biases and limitations of the field with recommendations for future development. Our overview is not only aimed at biologically-oriented researchers already at ease with bioinformatic techniques, but also, in particular, at natural product, organic, and/or medicinal chemists not previously familiar with genomic techniques.

Health risk assessment of chemical pollutants in a petrochemical complex

Directory of Open Access Journals (Sweden)

F Golbabaie

2012-12-01

Full Text Available   Background and Aims: workers in petrochemical industries are exposed to various contaminants and are facing to serious hazards, therefore a comprehensive risk assessment program for identification of hazardous chemicals that affect human health and also determination of hazardous tasks and processes is necessary.     Methods : This descriptive cross-sectional study was conducted in three stages. First stage consisted of identifying hazardous chemicals and determination of chemicals risk ratio, the second stage included the evaluation of worker's exposure to hazardous chemicals, and the third stage was estimating the relative risk of blood cancer caused by exposure to benzene through epidemiological studies.     Results: With regard to risk assessment method, 40 chemicals were identified in this Petrochemical Company. Among them, Benzene introduced as the most hazardous chemical. The results of the second stage showed that site man workers in noon shift work and in aromatic site with mean exposure 4.29 ppm had the highest exposure to benzene. The results of estimated leukemia relative risk stage in benzene exposure, the highest relative risk in workers related to site man workers in aromatic units with cumulative benzene exposure of 4.149 ppm. Years that obtained the relative risk of 2.3. The statistical test results showed that the relationship between worker's exposure to benzene and their job was significant(p<0/001     Conclusion : This study showed that benzene with a risk ratio of 4.5 -5 have 5th rank in risk levels and this indicates that preventative actions regarding to this hazardous and carcinogenic chemical must be started as soon as possible.

Research study on analysis/use technologies of genome information; Genome joho kaidoku riyo gijutsu no chosa kenkyu

Energy Technology Data Exchange (ETDEWEB)

NONE

1997-03-01

For wide use of genome information in the industrial field, the required R and D was surveyed from the standpoints of biology and information science. To clarify the present state and issues of the international research on genome analysis, the genome map as well as sequence and function information are first surveyed. The current analysis/use technologies of genome information are analyzed, and the following are summarized: prediction and identification of gene regions in genome sequences, techniques for searching and selecting useful genes, and techniques for predicting the expression of gene functions and the gene-product structure and functions. It is recommended that R and D and data collection/interpretation necessary to clarify inter-gene interactions and information networks should be promoted by integrating Japanese advanced know-how and technologies. As examples of the impact of the research results on industry and society, the present state and future expected effect are summarized for medicines, diagnosis/analysis instruments, chemicals, foods, agriculture, fishery, animal husbandry, electronics, environment and information. 278 refs., 42 figs., 5 tabs.

75 FR 44800 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2010-07-29

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... for Human Genome Research. The meeting will be closed to the public in accordance with the provisions... Committee: National Advisory Council for Human Genome Research. Date: August 18, 2010. Time: 1 p.m. to 3 p.m...

Bridging the gap between academic research and regulatory health risk assessment of Endocrine Disrupting Chemicals.

Science.gov (United States)

Beronius, Anna; Hanberg, Annika; Zilliacus, Johanna; Rudén, Christina

2014-12-01

Regulatory risk assessment is traditionally based primarily on toxicity studies conducted according to standardized and internationally validated test guidelines. However, health risk assessment of endocrine disrupting chemicals (EDCs) is argued to rely on the efficient integration of findings from academic research. The aim of this review was to provide an overview of current developments to facilitate the use of academic research in regulatory risk assessment of chemicals and how certain aspects of study design and reporting are particularly important for the risk assessment process. By bridging the gap between academic research and regulatory health risk assessment of EDCs, scientific uncertainty in risk assessment conclusions can be reduced, allowing for better targeted policy decisions for chemical risk reduction. Copyright © 2014. Published by Elsevier Ltd.

Genomic and functional features of the biosurfactant producing Bacillus sp. AM13.

Science.gov (United States)

Shaligram, Shraddha; Kumbhare, Shreyas V; Dhotre, Dhiraj P; Muddeshwar, Manohar G; Kapley, Atya; Joseph, Neetha; Purohit, Hemant P; Shouche, Yogesh S; Pawar, Shrikant P

2016-09-01

Genomic studies provide deeper insights into secondary metabolites produced by diverse bacterial communities, residing in various environmental niches. This study aims to understand the potential of a biosurfactant producing Bacillus sp. AM13, isolated from soil. An integrated approach of genomic and chemical analysis was employed to characterize the antibacterial lipopeptide produced by the strain AM13. Genome analysis revealed that strain AM13 harbors a nonribosomal peptide synthetase (NRPS) cluster; highly similar with known biosynthetic gene clusters from surfactin family: lichenysin (85 %) and surfactin (78 %). These findings were substantiated with supplementary experiments of oil displacement assay and surface tension measurements, confirming the biosurfactant production. Further investigation using LCMS approach exhibited similarity of the biomolecule with biosurfactants of the surfactin family. Our consolidated effort of functional genomics provided chemical as well as genetic leads for understanding the biochemical characteristics of the bioactive compound.

Fungal Genomics for Energy and Environment

Energy Technology Data Exchange (ETDEWEB)

Grigoriev, Igor V.

2013-03-11

Genomes of fungi relevant to energy and environment are in focus of the Fungal Genomic Program at the US Department of Energy Joint Genome Institute (JGI). One of its projects, the Genomics Encyclopedia of Fungi, targets fungi related to plant health (symbionts, pathogens, and biocontrol agents) and biorefinery processes (cellulose degradation, sugar fermentation, industrial hosts) by means of genome sequencing and analysis. New chapters of the Encyclopedia can be opened with user proposals to the JGI Community Sequencing Program (CSP). Another JGI project, the 1000 fungal genomes, explores fungal diversity on genome level at scale and is open for users to nominate new species for sequencing. Over 200 fungal genomes have been sequenced by JGI to date and released through MycoCosm (www.jgi.doe.gov/fungi), a fungal web-portal, which integrates sequence and functional data with genome analysis tools for user community. Sequence analysis supported by functional genomics leads to developing parts list for complex systems ranging from ecosystems of biofuel crops to biorefineries. Recent examples of such parts suggested by comparative genomics and functional analysis in these areas are presented here.

Relationship between metabolic and genomic diversity in sesame (Sesamum indicum L.

Directory of Open Access Journals (Sweden)

Karlovsky Petr

2008-05-01

Full Text Available Abstract Background Diversity estimates in cultivated plants provide a rationale for conservation strategies and support the selection of starting material for breeding programs. Diversity measures applied to crops usually have been limited to the assessment of genome polymorphism at the DNA level. Occasionally, selected morphological features are recorded and the content of key chemical constituents determined, but unbiased and comprehensive chemical phenotypes have not been included systematically in diversity surveys. Our objective in this study was to assess metabolic diversity in sesame by nontargeted metabolic profiling and elucidate the relationship between metabolic and genome diversity in this crop. Results Ten sesame accessions were selected that represent most of the genome diversity of sesame grown in India, Western Asia, Sudan and Venezuela based on previous AFLP studies. Ethanolic seed extracts were separated by HPLC, metabolites were ionized by positive and negative electrospray and ions were detected with an ion trap mass spectrometer in full-scan mode for m/z from 50 to 1000. Genome diversity was determined by Amplified Fragment Length Polymorphism (AFLP using eight primer pair combinations. The relationship between biodiversity at the genome and at the metabolome levels was assessed by correlation analysis and multivariate statistics. Conclusion Patterns of diversity at the genomic and metabolic levels differed, indicating that selection played a significant role in the evolution of metabolic diversity in sesame. This result implies that when used for the selection of genotypes in breeding and conservation, diversity assessment based on neutral DNA markers should be complemented with metabolic profiles. We hypothesize that this applies to all crops with a long history of domestication that possess commercially relevant traits affected by chemical phenotypes.

Chemical analysis and potential health risks of hookah charcoal

Energy Technology Data Exchange (ETDEWEB)

Elsayed, Yehya, E-mail: yelsayed@aus.edu; Dalibalta, Sarah, E-mail: sdalibalta@aus.edu; Abu-Farha, Nedal

2016-11-01

Hookah (waterpipe) smoking is a very common practice that has spread globally. There is growing evidence on the hazardous consequences of smoking hookah, with studies indicating that its harmful effects are comparable to cigarette smoking if not worse. Charcoal is commonly used as a heating source for hookah smoke. Although charcoal briquettes are thought to be one of the major contributors to toxicity, their composition and impact on the smoke generated remains largely unidentified. This study aims to analyze the elemental composition of five different raw synthetic and natural charcoals by using Carbon-Hydrogen-Nitrogen (CHN) analysis, inductively coupled plasma (ICP), and scanning electron microscopy coupled with energy dispersive X-Ray spectrometry (SEM-EDS). Elemental analysis showed that the raw charcoals contain heavy metals such as zinc, iron, cadmium, vanadium, aluminum, lead, chromium, manganese and cobalt at concentrations similar, if not higher than, cigarettes. In addition, thermal desorption-gas chromatography–mass spectrometry (TD-GC–MS) was used to analyze the chemical composition of the smoke produced from burning the charcoal samples. The smoke emitted from charcoal was found to be the source of numerous compounds which could be hazardous to health. A total of seven carcinogens, 39 central nervous system depressants and 31 respiratory irritants were identified. - Highlights: • Hookah charcoals, mainly synthetic brands, contains trace/heavy metals in concentrations exceeding those in cigarettes. • The concentration of lead in synthetic charcoal briquettes may impose adverse effects on human health. • The amount of nitrogen in synthetic charcoal is comparable to that reported in cigarettes. • Chemical profiling of smoke emitted from hookah charcoal reveals many compounds associated with potential health risks.

Chemical analysis and potential health risks of hookah charcoal

International Nuclear Information System (INIS)

Elsayed, Yehya; Dalibalta, Sarah; Abu-Farha, Nedal

2016-01-01

Hookah (waterpipe) smoking is a very common practice that has spread globally. There is growing evidence on the hazardous consequences of smoking hookah, with studies indicating that its harmful effects are comparable to cigarette smoking if not worse. Charcoal is commonly used as a heating source for hookah smoke. Although charcoal briquettes are thought to be one of the major contributors to toxicity, their composition and impact on the smoke generated remains largely unidentified. This study aims to analyze the elemental composition of five different raw synthetic and natural charcoals by using Carbon-Hydrogen-Nitrogen (CHN) analysis, inductively coupled plasma (ICP), and scanning electron microscopy coupled with energy dispersive X-Ray spectrometry (SEM-EDS). Elemental analysis showed that the raw charcoals contain heavy metals such as zinc, iron, cadmium, vanadium, aluminum, lead, chromium, manganese and cobalt at concentrations similar, if not higher than, cigarettes. In addition, thermal desorption-gas chromatography–mass spectrometry (TD-GC–MS) was used to analyze the chemical composition of the smoke produced from burning the charcoal samples. The smoke emitted from charcoal was found to be the source of numerous compounds which could be hazardous to health. A total of seven carcinogens, 39 central nervous system depressants and 31 respiratory irritants were identified. - Highlights: • Hookah charcoals, mainly synthetic brands, contains trace/heavy metals in concentrations exceeding those in cigarettes. • The concentration of lead in synthetic charcoal briquettes may impose adverse effects on human health. • The amount of nitrogen in synthetic charcoal is comparable to that reported in cigarettes. • Chemical profiling of smoke emitted from hookah charcoal reveals many compounds associated with potential health risks.

Development and application of Human Genome Epidemiology

Science.gov (United States)

Xu, Jingwen

2017-12-01

Epidemiology is a science that studies distribution of diseases and health in population and its influencing factors, it also studies how to prevent and cure disease and promote health strategies and measures. Epidemiology has developed rapidly in recent years and it is an intercross subject with various other disciplines to form a series of branch disciplines such as Genetic epidemiology, molecular epidemiology, drug epidemiology and tumor epidemiology. With the implementation and completion of Human Genome Project (HGP), Human Genome Epidemiology (HuGE) has emerged at this historic moment. In this review, the development of Human Genome Epidemiology, research content, the construction and structure of relevant network, research standards, as well as the existing results and problems are briefly outlined.

77 FR 64816 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2012-10-23

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., Human Genome Research, National Institutes of Health, HHS) Dated: October 16, 2012. David Clary, Program... Conference Call). Contact Person: Camilla E. Day, Ph.D., Scientific Review Officer, CIDR, National Human...

78 FR 11898 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2013-02-20

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome....172, Human Genome Research, National Institutes of Health, HHS) Dated: February 13, 2013. David Clary... Conference Call). Contact Person: Camilla E. Day, Ph.D., Scientific Review Officer CIDR, National Human...

78 FR 77477 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2013-12-23

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., Human Genome Research, National Institutes of Health, HHS). Dated: December 17, 2013. David Clary... Conference Call). Contact Person: Camilla E. Day, Ph.D., Scientific Review Officer, CIDR, National Human...

Indoor Air Nuclear, Biological, and Chemical Health Modeling and Assessment System

Energy Technology Data Exchange (ETDEWEB)

Stenner, Robert D.; Hadley, Donald L.; Armstrong, Peter R.; Buck, John W.; Hoopes, Bonnie L.; Janus, Michael C.

2001-03-01

Indoor air quality effects on human health are of increasing concern to public health agencies and building owners. The prevention and treatment of 'sick building' syndrome and the spread of air-borne diseases in hospitals, for example, are well known priorities. However, increasing attention is being directed to the vulnerability of our public buildings/places, public security and national defense facilities to terrorist attack or the accidental release of air-borne biological pathogens, harmful chemicals, or radioactive contaminants. The Indoor Air Nuclear, Biological, and Chemical Health Modeling and Assessment System (IA-NBC-HMAS) was developed to serve as a health impact analysis tool for use in addressing these concerns. The overall goal was to develop a user-friendly fully functional prototype Health Modeling and Assessment system, which will operate under the PNNL FRAMES system for ease of use and to maximize its integration with other modeling and assessment capabilities accessible within the FRAMES system (e.g., ambient air fate and transport models, water borne fate and transport models, Physiologically Based Pharmacokinetic models, etc.). The prototype IA-NBC-HMAS is designed to serve as a functional Health Modeling and Assessment system that can be easily tailored to meet specific building analysis needs of a customer. The prototype system was developed and tested using an actual building (i.e., the Churchville Building located at the Aberdeen Proving Ground) and release scenario (i.e., the release and measurement of tracer materials within the building) to ensure realism and practicality in the design and development of the prototype system. A user-friendly "demo" accompanies this report to allow the reader the opportunity for a "hands on" review of the prototype system's capability.

Ginseng Genome Database: an open-access platform for genomics of Panax ginseng.

Science.gov (United States)

Jayakodi, Murukarthick; Choi, Beom-Soon; Lee, Sang-Choon; Kim, Nam-Hoon; Park, Jee Young; Jang, Woojong; Lakshmanan, Meiyappan; Mohan, Shobhana V G; Lee, Dong-Yup; Yang, Tae-Jin

2018-04-12

The ginseng (Panax ginseng C.A. Meyer) is a perennial herbaceous plant that has been used in traditional oriental medicine for thousands of years. Ginsenosides, which have significant pharmacological effects on human health, are the foremost bioactive constituents in this plant. Having realized the importance of this plant to humans, an integrated omics resource becomes indispensable to facilitate genomic research, molecular breeding and pharmacological study of this herb. The first draft genome sequences of P. ginseng cultivar "Chunpoong" were reported recently. Here, using the draft genome, transcriptome, and functional annotation datasets of P. ginseng, we have constructed the Ginseng Genome Database http://ginsengdb.snu.ac.kr /, the first open-access platform to provide comprehensive genomic resources of P. ginseng. The current version of this database provides the most up-to-date draft genome sequence (of approximately 3000 Mbp of scaffold sequences) along with the structural and functional annotations for 59,352 genes and digital expression of genes based on transcriptome data from different tissues, growth stages and treatments. In addition, tools for visualization and the genomic data from various analyses are provided. All data in the database were manually curated and integrated within a user-friendly query page. This database provides valuable resources for a range of research fields related to P. ginseng and other species belonging to the Apiales order as well as for plant research communities in general. Ginseng genome database can be accessed at http://ginsengdb.snu.ac.kr /.

Opportunities in Africa for training in genome science | Masiga ...

African Journals Online (AJOL)

Genome science is a new type of biology that unites genetics, molecular biology, computational biology and bioinformatics. The availability of the human genome sequence, as well as the genome sequences of several other organisms relevant to health, agriculture and the environment in Africa necessitates the ...

78 FR 68856 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2013-11-15

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Nakamura, Ph.D., Scientific Review Officer, Scientific Review Branch, National Human Genome Research...-402-0838. [[Page 68857

Co-exposure with fullerene may strengthen health effects of organic industrial chemicals.

Directory of Open Access Journals (Sweden)

Maili Lehto

Full Text Available In vitro toxicological studies together with atomistic molecular dynamics simulations show that occupational co-exposure with C60 fullerene may strengthen the health effects of organic industrial chemicals. The chemicals studied are acetophenone, benzaldehyde, benzyl alcohol, m-cresol, and toluene which can be used with fullerene as reagents or solvents in industrial processes. Potential co-exposure scenarios include a fullerene dust and organic chemical vapor, or a fullerene solution aerosolized in workplace air. Unfiltered and filtered mixtures of C60 and organic chemicals represent different co-exposure scenarios in in vitro studies where acute cytotoxicity and immunotoxicity of C60 and organic chemicals are tested together and alone by using human THP-1-derived macrophages. Statistically significant co-effects are observed for an unfiltered mixture of benzaldehyde and C60 that is more cytotoxic than benzaldehyde alone, and for a filtered mixture of m-cresol and C60 that is slightly less cytotoxic than m-cresol. Hydrophobicity of chemicals correlates with co-effects when secretion of pro-inflammatory cytokines IL-1β and TNF-α is considered. Complementary atomistic molecular dynamics simulations reveal that C60 co-aggregates with all chemicals in aqueous environment. Stable aggregates have a fullerene-rich core and a chemical-rich surface layer, and while essentially all C60 molecules aggregate together, a portion of organic molecules remains in water.

Synthetic biology to access and expand nature’s chemical diversity

Science.gov (United States)

Smanski, Michael J.; Zhou, Hui; Claesen, Jan; Shen, Ben; Fischbach, Michael; Voigt, Christopher A.

2016-01-01

Bacterial genomes encode the biosynthetic potential to produce hundreds of thousands of complex molecules with diverse applications, from medicine to agriculture and materials. Economically accessing the potential encoded within sequenced genomes promises to reinvigorate waning drug discovery pipelines and provide novel routes to intricate chemicals. This is a tremendous undertaking, as the pathways often comprise dozens of genes spanning as much as 100+ kiliobases of DNA, are controlled by complex regulatory networks, and the most interesting molecules are made by non-model organisms. Advances in synthetic biology address these issues, including DNA construction technologies, genetic parts for precision expression control, synthetic regulatory circuits, computer aided design, and multiplexed genome engineering. Collectively, these technologies are moving towards an era when chemicals can be accessed en mass based on sequence information alone. This will enable the harnessing of metagenomic data and massive strain banks for high-throughput molecular discovery and, ultimately, the ability to forward design pathways to complex chemicals not found in nature. PMID:26876034

77 FR 50140 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2012-08-20

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome..., Human Genome Research, National Institutes of Health, HHS) Dated: August 13, 2012. Anna Snouffer, Deputy..., Bethesda, MD 20892. Contact Person: Camilla E. Day, Ph.D., Scientific Review Officer, CIDR, National Human...

Public Health Genomics education in post-graduate schools of hygiene and preventive medicine: a cross-sectional survey.

Science.gov (United States)

Ianuale, Carolina; Leoncini, Emanuele; Mazzucco, Walter; Marzuillo, Carolina; Villari, Paolo; Ricciardi, Walter; Boccia, Stefania

2014-10-10

The relevance of Public Health Genomics (PHG) education among public health specialists has been recently acknowledged by the Association of Schools of Public Health in the European Region. The aim of this cross-sectional survey was to assess the prevalence of post-graduate public health schools for medical doctors which offer PHG training in Italy. The directors of the 33 Italian public health schools were interviewed for the presence of a PHG course in place. We stratified by geographical area (North, Centre and South) of the schools. We performed comparisons of categorical data using the chi-squared test. The response rate was 73% (24/33 schools). Among respondents, 15 schools (63%) reported to have at least one dedicated course in place, while nine (38%) did not, with a significant geographic difference. Results showed a good implementation of courses in PHG discipline in Italian post-graduate public health schools. However further harmonization of the training programs of schools in public health at EU level is needed.

Mouse Genome Informatics (MGI)

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U.S. Department of Health & Human Services — MGI is the international database resource for the laboratory mouse, providing integrated genetic, genomic, and biological data to facilitate the study of human...

Human and animal health risk assessments of chemicals in the food chain: comparative aspects and future perspectives.

Science.gov (United States)

Dorne, J L C M; Fink-Gremmels, J

2013-08-01

Chemicals from anthropogenic and natural origins enter animal feed, human food and water either as undesirable contaminants or as part of the components of a diet. Over the last five decades, considerable efforts and progress to develop methodologies to protect humans and animals against potential risks associated with exposure to such potentially toxic chemicals have been made. This special issue presents relevant methodological developments and examples of risk assessments of undesirable substances in the food chain integrating the animal health and the human health perspective and refers to recent Opinions of the Scientific Panel on Contaminants in the Food Chain (CONTAM) of the European Food Safety Authority (EFSA). This introductory review aims to give a comparative account of the risk assessment steps used in human health and animal health risk assessments for chemicals in the food chain and provides a critical view of the data gaps and future perspectives for this cross-disciplinary field. Copyright © 2012 Elsevier Inc. All rights reserved.

The human genome as public: Justifications and implications.

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Bayefsky, Michelle J

2017-03-01

Since the human genome was decoded, great emphasis has been placed on the unique, personal nature of the genome, along with the benefits that personalized medicine can bring to individuals and the importance of safeguarding genetic privacy. As a result, an equally important aspect of the human genome - its common nature - has been underappreciated and underrepresented in the ethics literature and policy dialogue surrounding genetics and genomics. This article will argue that, just as the personal nature of the genome has been used to reinforce individual rights and justify important privacy protections, so too the common nature of the genome can be employed to support protections of the genome at a population level and policies designed to promote the public's wellbeing. In order for public health officials to have the authority to develop genetics policies for the sake of the public good, the genome must have not only a common, but also a public, dimension. This article contends that DNA carries a public dimension through the use of two conceptual frameworks: the common heritage (CH) framework and the common resource (CR) framework. Both frameworks establish a public interest in the human genome, but the CH framework can be used to justify policies aimed at preserving and protecting the genome, while the CR framework can be employed to justify policies for utilizing the genome for the public benefit. A variety of possible policy implications are discussed, with special attention paid to the use of large-scale genomics databases for public health research. © Published 2016. This article is a U.S. Government work and is in the public domain in the USA.

From the Battlefield to the Bedside: Supporting Warfighter and Civilian Health With the "ART" of Whole Genome Sequencing for Antibiotic Resistance and Outbreak Investigations.

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Lesho, Emil; Lin, Xiaoxu; Clifford, Robert; Snesrud, Erik; Onmus-Leone, Fatma; Appalla, Lakshmi; Ong, Ana; Maybank, Rosslyn; Nielsen, Lindsey; Kwak, Yoon; Hinkle, Mary; Turco, John; Marin, Juan A; Hooks, Sally; Matthews, Stacy; Hyland, Stephen; Little, Jered; Waterman, Paige; McGann, Patrick

2016-07-01

Awareness, responsiveness, and throughput characterize an approach for enhancing the clinical impact of whole genome sequencing for austere environments and for large geographically dispersed health systems. This Department of Defense approach is informing interagency efforts linking antibiograms of multidrug-resistant organisms to their genome sequences in a public database. Reprint & Copyright © 2016 Association of Military Surgeons of the U.S.

Genomics Research: World Survey of Public Funding

Directory of Open Access Journals (Sweden)

Cook-Deegan Robert M

2008-10-01

Full Text Available Abstract Background Over the past two decades, genomics has evolved as a scientific research discipline. Genomics research was fueled initially by government and nonprofit funding sources, later augmented by private research and development (R&D funding. Citizens and taxpayers of many countries have funded much of the research, and have expectations about access to the resulting information and knowledge. While access to knowledge gained from all publicly funded research is desired, access is especially important for fields that have broad social impact and stimulate public dialogue. Genomics is one such field, where public concerns are raised for reasons such as health care and insurance implications, as well as personal and ancestral identification. Thus, genomics has grown rapidly as a field, and attracts considerable interest. Results One way to study the growth of a field of research is to examine its funding. This study focuses on public funding of genomics research, identifying and collecting data from major government and nonprofit organizations around the world, and updating previous estimates of world genomics research funding, including information about geographical origins. We initially identified 89 publicly funded organizations; we requested information about each organization's funding of genomics research. Of these organizations, 48 responded and 34 reported genomics research expenditures (of those that responded but did not supply information, some did not fund such research, others could not quantify it. The figures reported here include all the largest funders and we estimate that we have accounted for most of the genomics research funding from government and nonprofit sources. Conclusion Aggregate spending on genomics research from 34 funding sources averaged around $2.9 billion in 2003 – 2006. The United States spent more than any other country on genomics research, corresponding to 35% of the overall worldwide public

Banking biological collections: data warehousing, data mining, and data dilemmas in genomics and global health policy.

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Blatt, R J R

2000-01-01

While DNA databases may offer the opportunity to (1) assess population-based prevalence of specific genes and variants, (2) simplify the search for molecular markers, (3) improve targeted drug discovery and development for disease management, (4) refine strategies for disease prevention, and (5) provide the data necessary for evidence-based decision-making, serious scientific and social questions remain. Whether samples are identified, coded, or anonymous, biological banking raises profound ethical and legal issues pertaining to access, informed consent, privacy and confidentiality of genomic information, civil liberties, patenting, and proprietary rights. This paper provides an overview of key policy issues and questions pertaining to biological banking, with a focus on developments in specimen collection, transnational distribution, and public health and academic-industry research alliances. It highlights the challenges posed by the commercialization of genomics, and proposes the need for harmonization of biological banking policies.

Stakeholder engagement in policy development: challenges and opportunities for human genomics

OpenAIRE

Lemke, Amy A.; Harris-Wai, Julie N.

2015-01-01

Along with rapid advances in human genomics, policies governing genomic data and clinical technologies have proliferated. Stakeholder engagement is widely lauded as an important methodology for improving clinical, scientific, and public health policy decision making. The purpose of this paper is to examine how stakeholder engagement is used to develop policies in genomics research and public health areas, as well as to identify future priorities for conducting evidence-based stakeholder engag...

Genomic Ancestry, Self-Rated Health and Its Association with Mortality in an Admixed Population: 10 Year Follow-Up of the Bambui-Epigen (Brazil) Cohort Study of Ageing.

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Lima-Costa, M Fernanda; Macinko, James; Mambrini, Juliana Vaz de Melo; Cesar, Cibele C; Peixoto, Sérgio V; Magalhães, Wagner C S; Horta, Bernardo L; Barreto, Mauricio; Castro-Costa, Erico; Firmo, Josélia O A; Proietti, Fernando A; Leal, Thiago Peixoto; Rodrigues, Maira R; Pereira, Alexandre; Tarazona-Santos, Eduardo

2015-01-01

Self-rated health (SRH) has strong predictive value for mortality in different contexts and cultures, but there is inconsistent evidence on ethnoracial disparities in SRH in Latin America, possibly due to the complexity surrounding ethnoracial self-classification. We used 370,539 Single Nucleotide Polymorphisms (SNPs) to examine the association between individual genomic proportions of African, European and Native American ancestry, and ethnoracial self-classification, with baseline and 10-year SRH trajectories in 1,311 community dwelling older Brazilians. We also examined whether genomic ancestry and ethnoracial self-classification affect the predictive value of SRH for subsequent mortality. European ancestry predominated among participants, followed by African and Native American (median = 84.0%, 9.6% and 5.3%, respectively); the prevalence of Non-White (Mixed and Black) was 39.8%. Persons at higher levels of African and Native American genomic ancestry, and those self-identified as Non-White, were more likely to report poor health than other groups, even after controlling for socioeconomic conditions and an array of self-reported and objective physical health measures. Increased risks for mortality associated with worse SRH trajectories were strong and remarkably similar (hazard ratio ~3) across all genomic ancestry and ethno-racial groups. Our results demonstrated for the first time that higher levels of African and Native American genomic ancestry--and the inverse for European ancestry--were strongly correlated with worse SRH in a Latin American admixed population. Both genomic ancestry and ethnoracial self-classification did not modify the strong association between baseline SRH or SRH trajectory, and subsequent mortality.

Molecular Mechanisms Underlying Genomic Instability in Brca-Deficient Cells

Science.gov (United States)

2014-11-01

increased by hydroxyurea, ATR inhibition, deregulated c-Myc expression and by PARPi treatment of BRCA1 deficient cells. This work was recently published...Genome Stability." 6: May 27, 2013-Collaborative Research Center 655 from Cells to Tissues seminar series at the Max-Planck-Institute in Dresden, Germany ...Eisenach, Germany -“Genome Stability during DNA Replication” 8: May 3, 2013- Chemical and Systems Biology Department Seminar Series at Stanford

Chemical Emergencies

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When a hazardous chemical has been released, it may harm people's health. Chemical releases can be unintentional, as in the case of an ... the case of a terrorist attack with a chemical weapon. Some hazardous chemicals have been developed by ...

Big Data Analytics for Genomic Medicine.

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He, Karen Y; Ge, Dongliang; He, Max M

2017-02-15

Genomic medicine attempts to build individualized strategies for diagnostic or therapeutic decision-making by utilizing patients' genomic information. Big Data analytics uncovers hidden patterns, unknown correlations, and other insights through examining large-scale various data sets. While integration and manipulation of diverse genomic data and comprehensive electronic health records (EHRs) on a Big Data infrastructure exhibit challenges, they also provide a feasible opportunity to develop an efficient and effective approach to identify clinically actionable genetic variants for individualized diagnosis and therapy. In this paper, we review the challenges of manipulating large-scale next-generation sequencing (NGS) data and diverse clinical data derived from the EHRs for genomic medicine. We introduce possible solutions for different challenges in manipulating, managing, and analyzing genomic and clinical data to implement genomic medicine. Additionally, we also present a practical Big Data toolset for identifying clinically actionable genetic variants using high-throughput NGS data and EHRs.

Multiscale modeling of three-dimensional genome

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Zhang, Bin; Wolynes, Peter

The genome, the blueprint of life, contains nearly all the information needed to build and maintain an entire organism. A comprehensive understanding of the genome is of paramount interest to human health and will advance progress in many areas, including life sciences, medicine, and biotechnology. The overarching goal of my research is to understand the structure-dynamics-function relationships of the human genome. In this talk, I will be presenting our efforts in moving towards that goal, with a particular emphasis on studying the three-dimensional organization, the structure of the genome with multi-scale approaches. Specifically, I will discuss the reconstruction of genome structures at both interphase and metaphase by making use of data from chromosome conformation capture experiments. Computationally modeling of chromatin fiber at atomistic level from first principles will also be presented as our effort for studying the genome structure from bottom up.

Health and environmental threats associated with the destruction of chemical weapons.

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Matousek, Jirí

2006-09-01

Still existing arsenals of chemical weapons (CW) pose not only security threats for possible use in hostilities by state actors or misuse by terrorists but also safety threats to humans and biota due to leakages and possible accidents. The Chemical Weapons Convention (CWC) commits the States Parties (SPs) to destroy CW using technologies taking into consideration human health and environmental protection. It does not allow methods, routinely used up to the 1970s, such as earth burial, open-pit burning, and sea dumping. Long-term health and environmental threats and some accidents that have already occurred in the known localities of the sea-dumped and earth-buried arsenals of Nazi-German armed forces in the Baltic Region and of Imperial Japanese forces in the Far East Region are analyzed according to the impact of major CW and ammunition types (i.e., sulfur mustard--HD, tabun--GA, arsenicals--DA, DC, DM, arsine oil, and chloroacetophenone--CN). Any possible operations and handling with CW envisaged by the CWC as well as their verification are summarized taking into account the health threat they pose. CW and toxic armament waste to be destroyed and applied technologies (both developed and under current use in operational CW destruction facilities [CWDF]) are reviewed as are systems of health safety and environmental protection of the destruction/demilitarization stems from the extraordinary high toxicity of supertoxic lethal agents in man and biota. Problems of currently used Russian and U.S. standards for maximum allowable workplace concentrations and general population limits and possibilities of their determination by available analytical instrumentation are discussed.

Ensuring Adequate Health and Safety Information for Decision Makers during Large-Scale Chemical Releases

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Petropoulos, Z.; Clavin, C.; Zuckerman, B.

2015-12-01

The 2014 4-Methylcyclohexanemethanol (MCHM) spill in the Elk River of West Virginia highlighted existing gaps in emergency planning for, and response to, large-scale chemical releases in the United States. The Emergency Planning and Community Right-to-Know Act requires that facilities with hazardous substances provide Material Safety Data Sheets (MSDSs), which contain health and safety information on the hazardous substances. The MSDS produced by Eastman Chemical Company, the manufacturer of MCHM, listed "no data available" for various human toxicity subcategories, such as reproductive toxicity and carcinogenicity. As a result of incomplete toxicity data, the public and media received conflicting messages on the safety of the contaminated water from government officials, industry, and the public health community. Two days after the governor lifted the ban on water use, the health department partially retracted the ban by warning pregnant women to continue avoiding the contaminated water, which the Centers for Disease Control and Prevention deemed safe three weeks later. The response in West Virginia represents a failure in risk communication and calls to question if government officials have sufficient information to support evidence-based decisions during future incidents. Research capabilities, like the National Science Foundation RAPID funding, can provide a solution to some of the data gaps, such as information on environmental fate in the case of the MCHM spill. In order to inform policy discussions on this issue, a methodology for assessing the outcomes of RAPID and similar National Institutes of Health grants in the context of emergency response is employed to examine the efficacy of research-based capabilities in enhancing public health decision making capacity. The results of this assessment highlight potential roles rapid scientific research can fill in ensuring adequate health and safety data is readily available for decision makers during large

Chemical Genomics and Emerging DNA Technologies in the Identification of Drug Mechanisms and Drug Targets

DEFF Research Database (Denmark)

Olsen, Louise Cathrine Braun; Færgeman, Nils J.

2012-01-01

and validate therapeutic targets and to discover drug candidates for rapidly and effectively generating new interventions for human diseases. The recent emergence of genomic technologies and their application on genetically tractable model organisms like Drosophila melanogaster,Caenorhabditis elegans...... critical roles in the genomic age of biological research and drug discovery. In the present review we discuss how simple biological model organisms can be used as screening platforms in combination with emerging genomic technologies to advance the identification of potential drugs and their molecular...

Genome-wide association studies in Africans and African Americans: Expanding the Framework of the Genomics of Human Traits and Disease

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Peprah, Emmanuel; Xu, Huichun; Tekola-Ayele, Fasil; Royal, Charmaine D.

2014-01-01

Genomic research is one of the tools for elucidating the pathogenesis of diseases of global health relevance, and paving the research dimension to clinical and public health translation. Recent advances in genomic research and technologies have increased our understanding of human diseases, genes associated with these disorders, and the relevant mechanisms. Genome-wide association studies (GWAS) have proliferated since the first studies were published several years ago, and have become an important tool in helping researchers comprehend human variation and the role genetic variants play in disease. However, the need to expand the diversity of populations in GWAS has become increasingly apparent as new knowledge is gained about genetic variation. Inclusion of diverse populations in genomic studies is critical to a more complete understanding of human variation and elucidation of the underpinnings of complex diseases. In this review, we summarize the available data on GWAS in recent-African ancestry populations within the western hemisphere (i.e. African Americans and peoples of the Caribbean) and continental African populations. Furthermore, we highlight ways in which genomic studies in populations of recent African ancestry have led to advances in the areas of malaria, HIV, prostate cancer, and other diseases. Finally, we discuss the advantages of conducting GWAS in recent African ancestry populations in the context of addressing existing and emerging global health conditions. PMID:25427668

Genome-wide association studies in Africans and African Americans: expanding the framework of the genomics of human traits and disease.

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Peprah, Emmanuel; Xu, Huichun; Tekola-Ayele, Fasil; Royal, Charmaine D

2015-01-01

Genomic research is one of the tools for elucidating the pathogenesis of diseases of global health relevance and paving the research dimension to clinical and public health translation. Recent advances in genomic research and technologies have increased our understanding of human diseases, genes associated with these disorders, and the relevant mechanisms. Genome-wide association studies (GWAS) have proliferated since the first studies were published several years ago and have become an important tool in helping researchers comprehend human variation and the role genetic variants play in disease. However, the need to expand the diversity of populations in GWAS has become increasingly apparent as new knowledge is gained about genetic variation. Inclusion of diverse populations in genomic studies is critical to a more complete understanding of human variation and elucidation of the underpinnings of complex diseases. In this review, we summarize the available data on GWAS in recent African ancestry populations within the western hemisphere (i.e. African Americans and peoples of the Caribbean) and continental African populations. Furthermore, we highlight ways in which genomic studies in populations of recent African ancestry have led to advances in the areas of malaria, HIV, prostate cancer, and other diseases. Finally, we discuss the advantages of conducting GWAS in recent African ancestry populations in the context of addressing existing and emerging global health conditions.

Hospital nursing leadership-led interventions increased genomic awareness and educational intent in Magnet settings.

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Calzone, Kathleen A; Jenkins, Jean; Culp, Stacey; Badzek, Laurie

2017-11-13

The Precision Medicine Initiative will accelerate genomic discoveries that improve health care, necessitating a genomic competent workforce. This study assessed leadership team (administrator/educator) year-long interventions to improve registered nurses' (RNs) capacity to integrate genomics into practice. We examined genomic competency outcomes in 8,150 RNs. Awareness and intention to learn more increased compared with controls. Findings suggest achieving genomic competency requires a longer intervention and support strategies such as infrastructure and policies. Leadership played a role in mobilizing staff, resources, and supporting infrastructure to sustain a large-scale competency effort on an institutional basis. Results demonstrate genomic workforce competency can be attained with leadership support and sufficient time. Our study provides evidence of the critical role health-care leaders play in facilitating genomic integration into health care to improve patient outcomes. Genomics' impact on quality, safety, and cost indicate a leader-initiated national competency effort is achievable and warranted. Published by Elsevier Inc.

An Alternative Methodological Approach for Cost-Effectiveness Analysis and Decision Making in Genomic Medicine.

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Fragoulakis, Vasilios; Mitropoulou, Christina; van Schaik, Ron H; Maniadakis, Nikolaos; Patrinos, George P

2016-05-01

Genomic Medicine aims to improve therapeutic interventions and diagnostics, the quality of life of patients, but also to rationalize healthcare costs. To reach this goal, careful assessment and identification of evidence gaps for public health genomics priorities are required so that a more efficient healthcare environment is created. Here, we propose a public health genomics-driven approach to adjust the classical healthcare decision making process with an alternative methodological approach of cost-effectiveness analysis, which is particularly helpful for genomic medicine interventions. By combining classical cost-effectiveness analysis with budget constraints, social preferences, and patient ethics, we demonstrate the application of this model, the Genome Economics Model (GEM), based on a previously reported genome-guided intervention from a developing country environment. The model and the attendant rationale provide a practical guide by which all major healthcare stakeholders could ensure the sustainability of funding for genome-guided interventions, their adoption and coverage by health insurance funds, and prioritization of Genomic Medicine research, development, and innovation, given the restriction of budgets, particularly in developing countries and low-income healthcare settings in developed countries. The implications of the GEM for the policy makers interested in Genomic Medicine and new health technology and innovation assessment are also discussed.

Integrating Public Health and Deliberative Public Bioethics: Lessons from the Human Genome Project Ethical, Legal, and Social Implications Program.

Science.gov (United States)

Meagher, Karen M; Lee, Lisa M

2016-01-01

Public health policy works best when grounded in firm public health standards of evidence and widely shared social values. In this article, we argue for incorporating a specific method of ethical deliberation--deliberative public bioethics--into public health. We describe how deliberative public bioethics is a method of engagement that can be helpful in public health. Although medical, research, and public health ethics can be considered some of what bioethics addresses, deliberative public bioethics offers both a how and where. Using the Human Genome Project Ethical, Legal, and Social Implications program as an example of effective incorporation of deliberative processes to integrate ethics into public health policy, we examine how deliberative public bioethics can integrate both public health and bioethics perspectives into three areas of public health practice: research, education, and health policy. We then offer recommendations for future collaborations that integrate deliberative methods into public health policy and practice.

Natural Product Biosynthetic Diversity and Comparative Genomics of the Cyanobacteria.

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Dittmann, Elke; Gugger, Muriel; Sivonen, Kaarina; Fewer, David P

2015-10-01

Cyanobacteria are an ancient lineage of slow-growing photosynthetic bacteria and a prolific source of natural products with intricate chemical structures and potent biological activities. The bulk of these natural products are known from just a handful of genera. Recent efforts have elucidated the mechanisms underpinning the biosynthesis of a diverse array of natural products from cyanobacteria. Many of the biosynthetic mechanisms are unique to cyanobacteria or rarely described from other organisms. Advances in genome sequence technology have precipitated a deluge of genome sequences for cyanobacteria. This makes it possible to link known natural products to biosynthetic gene clusters but also accelerates the discovery of new natural products through genome mining. These studies demonstrate that cyanobacteria encode a huge variety of cryptic gene clusters for the production of natural products, and the known chemical diversity is likely to be just a fraction of the true biosynthetic capabilities of this fascinating and ancient group of organisms. Copyright © 2015. Published by Elsevier Ltd.

Sequencing of a new target genome: the Pediculus humanus humanus (Phthiraptera: Pediculidae) genome project.

Science.gov (United States)

Pittendrigh, B R; Clark, J M; Johnston, J S; Lee, S H; Romero-Severson, J; Dasch, G A

2006-11-01

The human body louse, Pediculus humanus humanus (L.), and the human head louse, Pediculus humanus capitis, belong to the hemimetabolous order Phthiraptera. The body louse is the primary vector that transmits the bacterial agents of louse-borne relapsing fever, trench fever, and epidemic typhus. The genomes of the bacterial causative agents of several of these aforementioned diseases have been sequenced. Thus, determining the body louse genome will enhance studies of host-vector-pathogen interactions. Although not important as a major disease vector, head lice are of major social concern. Resistance to traditional pesticides used to control head and body lice have developed. It is imperative that new molecular targets be discovered for the development of novel compounds to control these insects. No complete genome sequence exists for a hemimetabolous insect species primarily because hemimetabolous insects often have large (2000 Mb) to very large (up to 16,300 Mb) genomes. Fortuitously, we determined that the human body louse has one of the smallest genome sizes known in insects, suggesting it may be a suitable choice as a minimal hemimetabolous genome in which many genes have been eliminated during its adaptation to human parasitism. Because many louse species infest birds and mammals, the body louse genome-sequencing project will facilitate studies of their comparative genomics. A 6-8X coverage of the body louse genome, plus sequenced expressed sequence tags, should provide the entomological, evolutionary biology, medical, and public health communities with useful genetic information.

Genomics innovation: transforming healthcare, business, and the global economy.

Science.gov (United States)

Jimenez-Sanchez, Gerardo

2015-12-01

The genomics revolution has generated an unprecedented number of assets to propel innovation. Initial availability of genomics-based applications show a significant potential to contribute addressing global challenges, such as human health, food security, alternative sources of energies, and environmental sustainability. In the last years, most developed and emerging nations have established bioeconomy agendas where genomics plays a major role to meet their local needs. Genomic medicine is one of the most visible areas where genomics innovation is likely to contribute to a more individualized, predictive, and preventive medical practice. Examples in agriculture, dairy and beef, fishery, aquaculture, and forests industries include the effective selection of genetic variants associated to traits of economic value. Some, in addition to producing more and better foods, already represent an important increase in revenues to their respective industries. It is reasonable to predict that genomics applications will lead to a paradigm shift in our ability to ease significant health, economic, and social burdens. However, to successfully benefit from genomics innovations, it is imperative to address a number of hurdles related to generating robust scientific evidence, developing lower-cost sequencing technologies, effective bioinformatics, as well as sensitive ethical, economical, environmental, legal, and social aspects associated with the development and use of genomics innovations.

The Role of Molecular Biology in the Biomonitoring of Human Exposure to Chemicals

Directory of Open Access Journals (Sweden)

Balam Muñoz

2010-11-01

Full Text Available Exposure to different substances in an occupational environment is of utmost concern to global agencies such as the World Health Organization and the International Labour Organization. Interest in improving work health conditions, particularly of those employees exposed to noxious chemicals, has increased considerably and has stimulated the search for new, more specific and selective tests. Recently, the field of molecular biology has been indicated as an alternative technique for monitoring personnel while evaluating work-related pathologies. Originally, occupational exposure to environmental toxicants was assessed using biochemical techniques to determine the presence of higher concentrations of toxic compounds in blood, urine, or other fluids or tissues; results were used to evaluate potential health risk. However, this approach only estimates the presence of a noxious chemical and its effects, but does not prevent or diminish the risk. Molecular biology methods have become very useful in occupational medicine to provide more accurate and opportune diagnostics. In this review, we discuss the role of the following common techniques: (1 Use of cell cultures; (2 evaluation of gene expression; (3 the “omic” sciences (genomics, transcriptomics, proteomics and metabolomics and (4 bioinformatics. We suggest that molecular biology has many applications in occupational health where the data can be applied to general environmental conditions.

Building a model: developing genomic resources for common milkweed (Asclepias syriaca) with low coverage genome sequencing.

Science.gov (United States)

Straub, Shannon C K; Fishbein, Mark; Livshultz, Tatyana; Foster, Zachary; Parks, Matthew; Weitemier, Kevin; Cronn, Richard C; Liston, Aaron

2011-05-04

step in the development of a community resource for further study of plant-insect co-evolution, anti-herbivore defense, floral developmental genetics, reproductive biology, chemical evolution, population genetics, and comparative genomics using milkweeds, and A. syriaca in particular, as ecological and evolutionary models.

Perceived health problems in swimmers according to the chemical treatment of water in swimming pools.

Science.gov (United States)

Fernández-Luna, Álvaro; Burillo, Pablo; Felipe, José Luis; del Corral, Julio; García-Unanue, Jorge; Gallardo, Leonor

2016-01-01

The objective of this study was to determine which chemical treatment used for disinfecting water in indoor swimming pools had the least impact on users' perceptions of health problems, and which generated the greatest satisfaction with the quality of the water. A survey on satisfaction and perceived health problems was given to 1001 users at 20 indoor swimming pools which used different water treatment methods [chlorine, bromine, ozone, ultraviolet lamps (UV) and salt electrolysis]. The findings suggest that there is a greater probability of perceived health problems, such as eye and skin irritation, respiratory problems and skin dryness, in swimming pools treated with chlorine than in swimming pools using other chemical treatment methods. Pools treated with bromine have similar, although slightly better, results. Other factors, such as age, gender, time of day of use (morning and afternoon) and type of user (competitive and recreational), can also affect the probability of suffering health problems. For all of the above, using combined treatment methods as ozone and UV, or salt electrolysis produces a lower probability of perceived health problems and greater satisfaction.

The Global Invertebrate Genomics Alliance (GIGA): Developing Community Resources to Study Diverse Invertebrate Genomes

KAUST Repository

Bracken-Grissom, Heather

2013-12-12

Over 95% of all metazoan (animal) species comprise the invertebrates, but very few genomes from these organisms have been sequenced. We have, therefore, formed a Global Invertebrate Genomics Alliance (GIGA). Our intent is to build a collaborative network of diverse scientists to tackle major challenges (e.g., species selection, sample collection and storage, sequence assembly, annotation, analytical tools) associated with genome/transcriptome sequencing across a large taxonomic spectrum. We aim to promote standards that will facilitate comparative approaches to invertebrate genomics and collaborations across the international scientific community. Candidate study taxa include species from Porifera, Ctenophora, Cnidaria, Placozoa, Mollusca, Arthropoda, Echinodermata, Annelida, Bryozoa, and Platyhelminthes, among others. GIGA will target 7000 noninsect/nonnematode species, with an emphasis on marine taxa because of the unrivaled phyletic diversity in the oceans. Priorities for selecting invertebrates for sequencing will include, but are not restricted to, their phylogenetic placement; relevance to organismal, ecological, and conservation research; and their importance to fisheries and human health. We highlight benefits of sequencing both whole genomes (DNA) and transcriptomes and also suggest policies for genomic-level data access and sharing based on transparency and inclusiveness. The GIGA Web site () has been launched to facilitate this collaborative venture.

Endocrine Disrupting Chemicals (EDCs)

Science.gov (United States)

... Center Pacientes y Cuidadores Hormones and Health The Endocrine System Hormones Endocrine Disrupting Chemicals (EDCs) Steroid and Hormone ... Hormones and Health › Endocrine Disrupting Chemicals (EDCs) The Endocrine System Hormones Endocrine Disrupting Chemicals (EDCs) EDCs Myth vs. ...

Social and behavioral science priorities for genomic translation.

Science.gov (United States)

Koehly, Laura M; Persky, Susan; Spotts, Erica; Acca, Gillian

2018-01-29

This commentary highlights the essential role of the social and behavioral sciences for genomic translation, and discusses some priority research areas in this regard. The first area encompasses genetics of behavioral, social, and neurocognitive factors, and how integration of these relationships might impact the development of treatments and interventions. The second area includes the contributions that social and behavioral sciences make toward the informed translation of genomic developments. Further, there is a need for behavioral and social sciences to inform biomedical research for effective implementation. The third area speaks to the need for increased outreach and education efforts to improve the public's genomic literacy such that individuals and communities can make informed health-related and societal (e.g., in legal or consumer settings) decisions. Finally, there is a need to prioritize representation of diverse communities in genomics research and equity of access to genomic technologies. Examples from National Institutes of Health-based intramural and extramural research programs and initiatives are used to discuss these points. © Society of Behavioral Medicine 2018.

Big Data Analytics for Genomic Medicine

Science.gov (United States)

He, Karen Y.; Ge, Dongliang; He, Max M.

2017-01-01

Genomic medicine attempts to build individualized strategies for diagnostic or therapeutic decision-making by utilizing patients’ genomic information. Big Data analytics uncovers hidden patterns, unknown correlations, and other insights through examining large-scale various data sets. While integration and manipulation of diverse genomic data and comprehensive electronic health records (EHRs) on a Big Data infrastructure exhibit challenges, they also provide a feasible opportunity to develop an efficient and effective approach to identify clinically actionable genetic variants for individualized diagnosis and therapy. In this paper, we review the challenges of manipulating large-scale next-generation sequencing (NGS) data and diverse clinical data derived from the EHRs for genomic medicine. We introduce possible solutions for different challenges in manipulating, managing, and analyzing genomic and clinical data to implement genomic medicine. Additionally, we also present a practical Big Data toolset for identifying clinically actionable genetic variants using high-throughput NGS data and EHRs. PMID:28212287

[Ethical considerations in genomic cohort study].

Science.gov (United States)

Choi, Eun Kyung; Kim, Ock-Joo

2007-03-01

During the last decade, genomic cohort study has been developed in many countries by linking health data and genetic data in stored samples. Genomic cohort study is expected to find key genetic components that contribute to common diseases, thereby promising great advance in genome medicine. While many countries endeavor to build biobank systems, biobank-based genome research has raised important ethical concerns including genetic privacy, confidentiality, discrimination, and informed consent. Informed consent for biobank poses an important question: whether true informed consent is possible in population-based genomic cohort research where the nature of future studies is unforeseeable when consent is obtained. Due to the sensitive character of genetic information, protecting privacy and keeping confidentiality become important topics. To minimize ethical problems and achieve scientific goals to its maximum degree, each country strives to build population-based genomic cohort research project, by organizing public consultation, trying public and expert consensus in research, and providing safeguards to protect privacy and confidentiality.

Marine Bacterial Genomics

DEFF Research Database (Denmark)

Machado, Henrique

For decades, terrestrial microorganisms have been used as sources of countless enzymes and chemical compounds that have been produced by pharmaceutical and biotech companies and used by mankind. There is a need for new chemical compounds, including antibiotics,new enzymatic activities and new...... microorganisms to be used as cell factories for production. Therefore exploitation of new microbial niches and use of different strategies is an opportunity to boost discoveries. Even though scientists have started to explore several habitats other than the terrestrial ones, the marine environment stands out...... as a hitherto under-explored niche. This thesis work uses high-throughput sequencing technologies on a collection of marine bacteria established during the Galathea 3 expedition, with the purpose of unraveling new biodiversity and new bioactivities. Several tools were used for genomic analysis in order...

Chemical and radiation mutagenesis: Induction and detection by whole genome sequencing

Science.gov (United States)

Brachypodium distachyon has emerged as an effective model system to address fundamental questions in grass biology. With its small sequenced genome, short generation time and rapidly expanding array of genetic tools B. distachyon is an ideal system to elucidate the molecular basis of important trai...

Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network.

Science.gov (United States)

Sperber, Nina R; Carpenter, Janet S; Cavallari, Larisa H; J Damschroder, Laura; Cooper-DeHoff, Rhonda M; Denny, Joshua C; Ginsburg, Geoffrey S; Guan, Yue; Horowitz, Carol R; Levy, Kenneth D; Levy, Mia A; Madden, Ebony B; Matheny, Michael E; Pollin, Toni I; Pratt, Victoria M; Rosenman, Marc; Voils, Corrine I; W Weitzel, Kristen; Wilke, Russell A; Ryanne Wu, R; Orlando, Lori A

2017-05-22

To realize potential public health benefits from genetic and genomic innovations, understanding how best to implement the innovations into clinical care is important. The objective of this study was to synthesize data on challenges identified by six diverse projects that are part of a National Human Genome Research Institute (NHGRI)-funded network focused on implementing genomics into practice and strategies to overcome these challenges. We used a multiple-case study approach with each project considered as a case and qualitative methods to elicit and describe themes related to implementation challenges and strategies. We describe challenges and strategies in an implementation framework and typology to enable consistent definitions and cross-case comparisons. Strategies were linked to challenges based on expert review and shared themes. Three challenges were identified by all six projects, and strategies to address these challenges varied across the projects. One common challenge was to increase the relative priority of integrating genomics within the health system electronic health record (EHR). Four projects used data warehousing techniques to accomplish the integration. The second common challenge was to strengthen clinicians' knowledge and beliefs about genomic medicine. To overcome this challenge, all projects developed educational materials and conducted meetings and outreach focused on genomic education for clinicians. The third challenge was engaging patients in the genomic medicine projects. Strategies to overcome this challenge included use of mass media to spread the word, actively involving patients in implementation (e.g., a patient advisory board), and preparing patients to be active participants in their healthcare decisions. This is the first collaborative evaluation focusing on the description of genomic medicine innovations implemented in multiple real-world clinical settings. Findings suggest that strategies to facilitate integration of genomic

76 FR 9031 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2011-02-16

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Call). Contact Person: Camilla E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome...- 402-8837, [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human...

75 FR 62548 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2010-10-12

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Call). Contact Person: Camilla E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome...- 402-8837, [email protected] . Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human...

Big data or bust: realizing the microbial genomics revolution.

Science.gov (United States)

Raza, Sobia; Luheshi, Leila

2016-02-01

Pathogen genomics has the potential to transform the clinical and public health management of infectious diseases through improved diagnosis, detection and tracking of antimicrobial resistance and outbreak control. However, the wide-ranging benefits of this technology can only fully be realized through the timely collation, integration and sharing of genomic and clinical/epidemiological metadata by all those involved in the delivery of genomic-informed services. As part of our review on bringing pathogen genomics into 'health-service' practice, we undertook extensive stakeholder consultation to examine the factors integral to achieving effective data sharing and integration. Infrastructure tailored to the needs of clinical users, as well as practical support and policies to facilitate the timely and responsible sharing of data with relevant health authorities and beyond, are all essential. We propose a tiered data sharing and integration model to maximize the immediate and longer term utility of microbial genomics in healthcare. Realizing this model at the scale and sophistication necessary to support national and international infection management services is not uncomplicated. Yet the establishment of a clear data strategy is paramount if failures in containing disease spread due to inadequate knowledge sharing are to be averted, and substantial progress made in tackling the dangers posed by infectious diseases.

Whole-genome sequence-based analysis of thyroid function

DEFF Research Database (Denmark)

Taylor, Peter N.; Porcu, Eleonora; Chew, Shelby

2015-01-01

Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N = 2,287). Using additional whole-genome seque...

76 FR 50486 - National Human Genome Research Institute; Notice of Closed Meeting

Science.gov (United States)

2011-08-15

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome... Conference Call). Contact Person: Camilla E. Day, PhD, Scientific Review Officer, CIDR, National Human Genome...- 402-8837, [email protected] . (Catalogue of Federal Domestic Assistance Program Nos. 93.172, Human...

Genomics England's implementation of its public engagement strategy: Blurred boundaries between engagement for the United Kingdom's 100,000 Genomes project and the need for public support.

Science.gov (United States)

Samuel, Gabrielle Natalie; Farsides, Bobbie

2018-04-01

The United Kingdom's 100,000 Genomes Project has the aim of sequencing 100,000 genomes from National Health Service patients such that whole genome sequencing becomes routine clinical practice. It also has a research-focused goal to provide data for scientific discovery. Genomics England is the limited company established by the Department of Health to deliver the project. As an innovative scientific/clinical venture, it is interesting to consider how Genomics England positions itself in relation to public engagement activities. We set out to explore how individuals working at, or associated with, Genomics England enacted public engagement in practice. Our findings show that individuals offered a narrative in which public engagement performed more than one function. On one side, public engagement was seen as 'good practice'. On the other, public engagement was presented as core to the project's success - needed to encourage involvement and ultimately recruitment. We discuss the implications of this in this article.

Integrating mechanistic and polymorphism data to characterize human genetic susceptibility for environmental chemical risk assessment in the 21st century

International Nuclear Information System (INIS)

Mortensen, Holly M.; Euling, Susan Y.

2013-01-01

Response to environmental chemicals can vary widely among individuals and between population groups. In human health risk assessment, data on susceptibility can be utilized by deriving risk levels based on a study of a susceptible population and/or an uncertainty factor may be applied to account for the lack of information about susceptibility. Defining genetic susceptibility in response to environmental chemicals across human populations is an area of interest in the NAS' new paradigm of toxicity pathway-based risk assessment. Data from high-throughput/high content (HT/HC), including -omics (e.g., genomics, transcriptomics, proteomics, metabolomics) technologies, have been integral to the identification and characterization of drug target and disease loci, and have been successfully utilized to inform the mechanism of action for numerous environmental chemicals. Large-scale population genotyping studies may help to characterize levels of variability across human populations at identified target loci implicated in response to environmental chemicals. By combining mechanistic data for a given environmental chemical with next generation sequencing data that provides human population variation information, one can begin to characterize differential susceptibility due to genetic variability to environmental chemicals within and across genetically heterogeneous human populations. The integration of such data sources will be informative to human health risk assessment

Genome and Epigenome Editing in Mechanistic Studies of Human Aging and Aging-Related Disease.

Science.gov (United States)

Lau, Cia-Hin; Suh, Yousin

2017-01-01

The recent advent of genome and epigenome editing technologies has provided a new paradigm in which the landscape of the human genome and epigenome can be precisely manipulated in their native context. Genome and epigenome editing technologies can be applied to many aspects of aging research and offer the potential to develop novel therapeutics against age-related diseases. Here, we discuss the latest technological advances in the CRISPR-based genome and epigenome editing toolbox, and provide insight into how these synthetic biology tools could facilitate aging research by establishing in vitro cell and in vivo animal models to dissect genetic and epigenetic mechanisms underlying aging and age-related diseases. We discuss recent developments in the field with the aims to precisely modulate gene expression and dynamic epigenetic landscapes in a spatial and temporal manner in cellular and animal models, by complementing the CRISPR-based editing capability with conditional genetic manipulation tools including chemically inducible expression systems, optogenetics, logic gate genetic circuits, tissue-specific promoters, and the serotype-specific adeno-associated virus. We also discuss how the combined use of genome and epigenome editing tools permits investigators to uncover novel molecular pathways involved in the pathophysiology and etiology conferred by risk variants associated with aging and aging-related disease. A better understanding of the genetic and epigenetic regulatory mechanisms underlying human aging and age-related disease will significantly contribute to the developments of new therapeutic interventions for extending health span and life span, ultimately improving the quality of life in the elderly populations. © 2016 S. Karger AG, Basel.

Microbial Culturomics Application for Global Health: Noncontiguous Finished Genome Sequence and Description of Pseudomonas massiliensis Strain CB-1T sp. nov. in Brazil.

Science.gov (United States)

Bardet, Lucie; Cimmino, Teresa; Buffet, Clémence; Michelle, Caroline; Rathored, Jaishriram; Tandina, Fatalmoudou; Lagier, Jean-Christophe; Khelaifia, Saber; Abrahão, Jônatas; Raoult, Didier; Rolain, Jean-Marc

2018-02-01

Culturomics is a new postgenomics field that explores the microbial diversity of the human gut coupled with taxono-genomic strategy. Culturomics, and the microbiome science more generally, are anticipated to transform global health diagnostics and inform the ways in which gut microbial diversity contributes to human health and disease, and by extension, to personalized medicine. Using culturomics, we report in this study the description of strain CB1 T ( = CSUR P1334 = DSM 29075), a new species isolated from a stool specimen from a 37-year-old Brazilian woman. This description includes phenotypic characteristics and complete genome sequence and annotation. Strain CB1 T is a gram-negative aerobic and motile bacillus, exhibits neither catalase nor oxidase activities, and presents a 98.3% 16S rRNA sequence similarity with Pseudomonas putida. The 4,723,534 bp long genome contains 4239 protein-coding genes and 74 RNA genes, including 15 rRNA genes (5 16S rRNA, 4 23S rRNA, and 6 5S rRNA) and 59 tRNA genes. Strain CB1 T was named Pseudomonas massiliensis sp. nov. and classified into the family Pseudomonadaceae. This study demonstrates the usefulness of microbial culturomics in exploration of human microbiota in diverse geographies and offers new promise for incorporating new omics technologies for innovation in diagnostic medicine and global health.

Health and Safety Research Division progress report for the period April 1, 1990--September 30, 1991

Energy Technology Data Exchange (ETDEWEB)

Kaye, S.V.

1992-03-01

This is a brief progress report from the Health and Safety Research Division of Oak Ridge National Laboratory. Information is presented in the following sections: Assessment Technology including Measurement Applications and Development, Pollutant Assessments, Measurement Systems Research, Dosimetry Applications Research, Metabolism and Dosimetry Research and Nuclear Medicine. Biological and Radiation Physics including Atomic, Molecular, and High Voltage Physics, Physics of Solids and Macromolecules, Liquid and Submicron Physics, Analytic Dosimetry and Surface Physics and Health Effects. Chemical Physics including Molecular Physics, Photophysics and Advanced Monitoring Development. Biomedical and Environmental Information Analysis including Human Genome and Toxicology, Chemical Hazard Evaluation and Communication, Environmental Regulations and Remediation and Information Management Technology. Risk Analysis including Hazardous Waste.

Building a model: developing genomic resources for common milkweed (Asclepias syriaca with low coverage genome sequencing

Directory of Open Access Journals (Sweden)

Weitemier Kevin

2011-05-01

and its relatives. This study represents a first step in the development of a community resource for further study of plant-insect co-evolution, anti-herbivore defense, floral developmental genetics, reproductive biology, chemical evolution, population genetics, and comparative genomics using milkweeds, and A. syriaca in particular, as ecological and evolutionary models.

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

DEFF Research Database (Denmark)

Skirton, Heather; Lewis, Celine; Kent, Alastair

2010-01-01

in professional education and regulation between European countries, setting curricula may not be practical. Core competences are used as a basis for health professional education in many fields and settings. An Expert Group working under the auspices of the EuroGentest project and European Society of Human...... and professions has resulted in an adaptable framework for both pre-registration and continuing professional education. This competence framework has the potential to improve the quality of genetic health care for patients globally.......The use of genetics and genomics within a wide range of health-care settings requires health professionals to develop expertise to practise appropriately. There is a need for a common minimum standard of competence in genetics for health professionals in Europe but because of differences...

Assembly of viral genomes from metagenomes

Directory of Open Access Journals (Sweden)

Saskia L Smits

2014-12-01

Full Text Available Viral infections remain a serious global health issue. Metagenomic approaches are increasingly used in the detection of novel viral pathogens but also to generate complete genomes of uncultivated viruses. In silico identification of complete viral genomes from sequence data would allow rapid phylogenetic characterization of these new viruses. Often, however, complete viral genomes are not recovered, but rather several distinct contigs derived from a single entity, some of which have no sequence homology to any known proteins. De novo assembly of single viruses from a metagenome is challenging, not only because of the lack of a reference genome, but also because of intrapopulation variation and uneven or insufficient coverage. Here we explored different assembly algorithms, remote homology searches, genome-specific sequence motifs, k-mer frequency ranking, and coverage profile binning to detect and obtain viral target genomes from metagenomes. All methods were tested on 454-generated sequencing datasets containing three recently described RNA viruses with a relatively large genome which were divergent to previously known viruses from the viral families Rhabdoviridae and Coronaviridae. Depending on specific characteristics of the target virus and the metagenomic community, different assembly and in silico gap closure strategies were successful in obtaining near complete viral genomes.

HGVA: the Human Genome Variation Archive.

Science.gov (United States)

Lopez, Javier; Coll, Jacobo; Haimel, Matthias; Kandasamy, Swaathi; Tarraga, Joaquin; Furio-Tari, Pedro; Bari, Wasim; Bleda, Marta; Rueda, Antonio; Gräf, Stefan; Rendon, Augusto; Dopazo, Joaquin; Medina, Ignacio

2017-07-03

High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying disease-causing genotypes. However, accessing these data, contrasting the various studies and integrating those data in downstream analyses remains cumbersome. The Human Genome Variation Archive (HGVA) tackles these challenges and facilitates access to genomic data for key reference projects in a clean, fast and integrated fashion. HGVA provides an efficient and intuitive web-interface for easy data mining, a comprehensive RESTful API and client libraries in Python, Java and JavaScript for fast programmatic access to its knowledge base. HGVA calculates population frequencies for these projects and enriches their data with variant annotation provided by CellBase, a rich and fast annotation solution. HGVA serves as a proof-of-concept of the genome analysis developments being carried out by the University of Cambridge together with UK's 100 000 genomes project and the National Institute for Health Research BioResource Rare-Diseases, in particular, deploying open-source for Computational Biology (OpenCB) software platform for storing and analyzing massive genomic datasets. © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.

Trans-generational radiation-induced chromosomal instability in the female enhances the action of chemical mutagens

International Nuclear Information System (INIS)

Camats, Nuria; Garcia, Francisca; Parrilla, Juan Jose; Calaf, Joaquim; Martin, Miguel; Caldes, Montserrat Garcia

2008-01-01

Genomic instability can be produced by ionising radiation, so-called radiation-induced genomic instability, and chemical mutagens. Radiation-induced genomic instability occurs in both germinal and somatic cells and also in the offspring of irradiated individuals, and it is characterised by genetic changes including chromosomal rearrangements. The majority of studies of trans-generational, radiation-induced genomic instability have been described in the male germ line, whereas the authors who have chosen the female as a model are scarce. The aim of this work is to find out the radiation-induced effects in the foetal offspring of X-ray-treated female rats and, at the same time, the possible impact of this radiation-induced genomic instability on the action of a chemical mutagen. In order to achieve both goals, the quantity and quality of chromosomal damage were analysed. In order to detect trans-generational genomic instability, a total of 4806 metaphases from foetal tissues from the foetal offspring of X-irradiated female rats (5 Gy, acute dose) were analysed. The study's results showed that there is radiation-induced genomic instability: the number of aberrant metaphases and the breaks per total metaphases studied increased and were found to be statistically significant (p ≤ 0.05), with regard to the control group. In order to identify how this trans-generational, radiation-induced chromosomal instability could influence the chromosomal behaviour of the offspring of irradiated rat females in front of a chemical agent (aphidicolin), a total of 2481 metaphases were studied. The observed results showed that there is an enhancement of the action of the chemical agent: chromosomal breaks per aberrant metaphases show significant differences (p ≤ 0.05) in the X-ray- and aphidicolin-treated group as regards the aphidicolin-treated group. In conclusion, our findings indicate that there is trans-generational, radiation-induced chromosomal instability in the foetal cells

Trans-generational radiation-induced chromosomal instability in the female enhances the action of chemical mutagens

Energy Technology Data Exchange (ETDEWEB)

Camats, Nuria [Institut de Biotecnologia i Biomedicina (IBB), Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Garcia, Francisca [Institut de Biotecnologia i Biomedicina (IBB), Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Parrilla, Juan Jose [Servicio de Ginecologia y Obstetricia, Hospital Universitario Virgen de la Arrixaca, 30120 El Palmar, Murcia (Spain); Calaf, Joaquim [Servei de Ginecologia i Obstetricia, Hospital Universitari de la Santa Creu i Sant Pau, 08025 Barcelona (Spain); Martin, Miguel [Departament de Pediatria, d' Obstetricia i Ginecologia i de Medicina Preventiva, Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Caldes, Montserrat Garcia [Institut de Biotecnologia i Biomedicina (IBB), Universitat Autonoma de Barcelona, 08193 Barcelona (Spain); Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autonoma de Barcelona, 08193 Barcelona (Spain)], E-mail: Montserrat.Garcia.Caldes@uab.es

2008-04-02

Genomic instability can be produced by ionising radiation, so-called radiation-induced genomic instability, and chemical mutagens. Radiation-induced genomic instability occurs in both germinal and somatic cells and also in the offspring of irradiated individuals, and it is characterised by genetic changes including chromosomal rearrangements. The majority of studies of trans-generational, radiation-induced genomic instability have been described in the male germ line, whereas the authors who have chosen the female as a model are scarce. The aim of this work is to find out the radiation-induced effects in the foetal offspring of X-ray-treated female rats and, at the same time, the possible impact of this radiation-induced genomic instability on the action of a chemical mutagen. In order to achieve both goals, the quantity and quality of chromosomal damage were analysed. In order to detect trans-generational genomic instability, a total of 4806 metaphases from foetal tissues from the foetal offspring of X-irradiated female rats (5 Gy, acute dose) were analysed. The study's results showed that there is radiation-induced genomic instability: the number of aberrant metaphases and the breaks per total metaphases studied increased and were found to be statistically significant (p {<=} 0.05), with regard to the control group. In order to identify how this trans-generational, radiation-induced chromosomal instability could influence the chromosomal behaviour of the offspring of irradiated rat females in front of a chemical agent (aphidicolin), a total of 2481 metaphases were studied. The observed results showed that there is an enhancement of the action of the chemical agent: chromosomal breaks per aberrant metaphases show significant differences (p {<=} 0.05) in the X-ray- and aphidicolin-treated group as regards the aphidicolin-treated group. In conclusion, our findings indicate that there is trans-generational, radiation-induced chromosomal instability in the foetal

Genome resource banking of biomedically important laboratory animals.

Science.gov (United States)

Agca, Yuksel

2012-11-01

Genome resource banking is the systematic collection, storage, and redistribution of biomaterials in an organized, logistical, and secure manner. Genome cryobanks usually contain biomaterials and associated genomic information essential for progression of biomedicine, human health, and research. In that regard, appropriate genome cryobanks could provide essential biomaterials for both current and future research projects in the form of various cell types and tissues, including sperm, oocytes, embryos, embryonic or adult stem cells, induced pluripotent stem cells, and gonadal tissues. In addition to cryobanked germplasm, cryobanking of DNA, serum, blood products, and tissues from scientifically, economically, and ecologically important species has become a common practice. For revitalization of the whole organism, cryopreserved germplasm in conjunction with assisted reproductive technologies, offer a powerful approach for research model management, as well as assisting in animal production for agriculture, conservation, and human reproductive medicine. Recently, many developed and developing countries have allocated substantial resources to establish genome resources banks which are responsible for safeguarding scientifically, economically, and ecologically important wild type, mutant, and transgenic plants, fish, and local livestock breeds, as well as wildlife species. This review is dedicated to the memory of Dr. John K. Critser, who has made profound contributions to the science of cryobiology and establishment of genome research and resources centers for mice, rats, and swine. Emphasis will be given to application of genome resource banks to species with substantial contributions to the advancement of biomedicine and human health. Copyright © 2012 Elsevier Inc. All rights reserved.

[Citizens' veillance on environmental health through ICT and Genomics].

Science.gov (United States)

Tallacchini, Mariachiara; Biggeri, Annibale

2014-01-01

In the last decade three different phenomena have merged: the widespread use of ICT devices to collect and potentially share personal and scientific data, and to build networked communities; biobanking for genomics, namely the organized storage of human biological samples and information; and the collaboration between scientists and citizens in creating knowledge, namely peer-production of knowledge, for shared social goals. These different forms of knowledge, technical tools, and skills have merged in community based scientific and social, as well as legal, initiatives, where scientists and citizens use genetic information and ICT as powerful ways to gain more control over their health and the environment. These activities can no longer be simply qualified as epidemiological research and surveillance. Instead, they can be framed as new forms of citizens' participatory "veillance:" an attitude of cognitive proactive alertness towards the protection of common goods. This paper illustrates two Italian case-studies where citizens and scientists, by making use of both ICT and biobanking, have joined with the goal of protecting environmental health in highly polluted contexts. The statute of these initiatives still needs to be defined as to both the validity of the underlying citizen science and the lack of adequate legal tools for structuring them. However, as to their scientific quality and use of sophisticated technologies, these activities cannot be compared to previous experiences, such as those inspired by so-called popular epidemiology. Moreover, the deep awareness towards the data to be transparent, reliable, and accessible, as well as towards funding mechanisms to be crowdsourced, allows these experiences to go beyond the mere confrontation with institutional knowledge, and to represent a potential model for knowledge production for institutional implementation.

77 FR 67385 - National Human Genome Research Institute; Amended Notice of Meeting

Science.gov (United States)

2012-11-09

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Human Genome Research Institute Special Emphasis Panel, October 29, 2012, 8:00 a.m. to October 30...

78 FR 65342 - National Human Genome Research Institute; Amended Notice of Meeting

Science.gov (United States)

2013-10-31

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Human Genome Research Institute Special Emphasis Panel, October 17, 2013, 08:00 a.m. to October 17...

76 FR 65738 - National Human Genome Research Institute; Amended Notice of Meeting

Science.gov (United States)

2011-10-24

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Human Genome Research Institute Special Emphasis Panel, November 29, 2011, 8 a.m. to November 29...

76 FR 71581 - National Human Genome Research Institute; Amended Notice of Meeting

Science.gov (United States)

2011-11-18

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Human Genome Research Institute Special Emphasis Panel, November 22, 2011, 12 p.m. to November 22...

Chemical and non-chemical stressors affecting childhood obesity: a systematic scoping review.

Science.gov (United States)

Lichtveld, Kim; Thomas, Kent; Tulve, Nicolle S

2018-01-01

Childhood obesity in the United States has doubled over the last three decades and currently affects 17% of children and adolescents. While much research has focused on individual behaviors impacting obesity, little research has emphasized the complex interactions of numerous chemical and non-chemical stressors found in a child's environment and how these interactions affect a child's health and well-being. The objectives of this systematic scoping review were to (1) identify potential chemical stressors in the context of non-chemical stressors that impact childhood obesity; and, (2) summarize our observations for chemical and non-chemical stressors in regards to child-specific environments within a community setting. A review was conducted to identify chemical and non-chemical stressors related to childhood obesity for the childhood life stages ranging from prenatal to adolescence. Stressors were identified and grouped into domains: individual behaviors, family/household behaviors, community stressors, and chemical exposures. Stressors were related to the child and the child's everyday environments and used to characterize child health and well-being. This review suggests that the interactions of chemical and non-chemical stressors are important for understanding a child's overall health and well-being. By considering these relationships, the exposure science research community can better design and implement strategies to reduce childhood obesity.

Genome sequences of rare, uncultured bacteria obtained by differential coverage binning of multiple metagenomes

DEFF Research Database (Denmark)

Albertsen, Mads; Hugenholtz, Philip; Skarshewski, Adam

2013-01-01

Reference genomes are required to understand the diverse roles of microorganisms in ecology, evolution, human and animal health, but most species remain uncultured. Here we present a sequence composition–independent approach to recover high-quality microbial genomes from deeply sequenced metageno......Reference genomes are required to understand the diverse roles of microorganisms in ecology, evolution, human and animal health, but most species remain uncultured. Here we present a sequence composition–independent approach to recover high-quality microbial genomes from deeply sequenced...

Genome-wide association analysis of thirty one production, health, reproduction and body conformation traits in contemporary U.S. Holstein cows

Directory of Open Access Journals (Sweden)

Van Tassell Curtis P

2011-08-01

Full Text Available Abstract Background Genome-wide association analysis is a powerful tool for annotating phenotypic effects on the genome and knowledge of genes and chromosomal regions associated with dairy phenotypes is useful for genome and gene-based selection. Here, we report results of a genome-wide analysis of predicted transmitting ability (PTA of 31 production, health, reproduction and body conformation traits in contemporary Holstein cows. Results Genome-wide association analysis identified a number of candidate genes and chromosome regions associated with 31 dairy traits in contemporary U.S. Holstein cows. Highly significant genes and chromosome regions include: BTA13's GNAS region for milk, fat and protein yields; BTA7's INSR region and BTAX's LOC520057 and GRIA3 for daughter pregnancy rate, somatic cell score and productive life; BTA2's LRP1B for somatic cell score; BTA14's DGAT1-NIBP region for fat percentage; BTA1's FKBP2 for protein yields and percentage, BTA26's MGMT and BTA6's PDGFRA for protein percentage; BTA18's 53.9-58.7 Mb region for service-sire and daughter calving ease and service-sire stillbirth; BTA18's PGLYRP1-IGFL1 region for a large number of traits; BTA18's LOC787057 for service-sire stillbirth and daughter calving ease; BTA15's CD82, BTA23's DST and the MOCS1-LRFN2 region for daughter stillbirth; and BTAX's LOC520057 and GRIA3 for daughter pregnancy rate. For body conformation traits, BTA11, BTAX, BTA10, BTA5, and BTA26 had the largest concentrations of SNP effects, and PHKA2 of BTAX and REN of BTA16 had the most significant effects for body size traits. For body shape traits, BTAX, BTA19 and BTA3 were most significant. Udder traits were affected by BTA16, BTA22, BTAX, BTA2, BTA10, BTA11, BTA20, BTA22 and BTA25, teat traits were affected by BTA6, BTA7, BTA9, BTA16, BTA11, BTA26 and BTA17, and feet/legs traits were affected by BTA11, BTA13, BTA18, BTA20, and BTA26. Conclusions Genome-wide association analysis identified a number of

Impacts on health and safety from transfer/consolidation of nuclear materials and hazardous chemicals

International Nuclear Information System (INIS)

Gallucci, R.H.V.

1994-11-01

Environmental restoration plans at the US Department of Energy (USDOE) Hanford Site calls for transfer/consolidation of ''targets/threats,'' namely nuclear materials and hazardous chemicals. Reductions in the health and safety hazards will depend on the plans implemented. Pacific Northwest Laboratory (PNL) estimated these potential impacts, assuming implementation of the current reference plan and employing ongoing risk and safety analyses. The results indicated the potential for ''significant'' reductions in health and safety hazards in the long term (> 25 years) and a potentially ''noteworthy'' reduction in health hazard in the short term (≤ 25 years)

Imagining roles for epigenetics in health promotion research.

Science.gov (United States)

McBride, Colleen M; Koehly, Laura M

2017-04-01

Discoveries from the Human Genome Project have invigorated discussions of epigenetic effects-modifiable chemical processes that influence DNA's ability to give instructions to turn gene expression on or off-on health outcomes. We suggest three domains in which new understandings of epigenetics could inform innovations in health promotion research: (1) increase the motivational potency of health communications (e.g., explaining individual differences in health outcomes to interrupt optimistic biases about health exposures); (2) illuminate new approaches to targeted and tailored health promotion interventions (e.g., relapse prevention targeted to epigenetic responses to intervention participation); and (3) inform more sensitive measures of intervention impact, (e.g., replace or augment self-reported adherence). We suggest a three-step process for using epigenetics in health promotion research that emphasizes integrating epigenetic mechanisms into conceptual model development that then informs selection of intervention approaches and outcomes. Lastly, we pose examples of relevant scientific questions worth exploring.

Chemical concentrations, exposures, health risks by census tract from National Scale Air Toxics Assessment (NATA)

Data.gov (United States)

U.S. Environmental Protection Agency — Chemical concentrations, exposures, health risks by census tract for the United States from National Scale Air Toxics Assessment (NATA). This dataset is associated...

Genomics: The Science and Technology Behind the Human Genome Project (by Charles R. Cantor and Cassandra L. Smith)

Science.gov (United States)

Serra, Reviewed By Martin J.

2000-01-01

Genomics is one of the most rapidly expanding areas of science. This book is an outgrowth of a series of lectures given by one of the former heads (CRC) of the Human Genome Initiative. The book is designed to reach a wide audience, from biologists with little chemical or physical science background through engineers, computer scientists, and physicists with little current exposure to the chemical or biological principles of genetics. The text starts with a basic review of the chemical and biological properties of DNA. However, without either a biochemistry background or a supplemental biochemistry text, this chapter and much of the rest of the text would be difficult to digest. The second chapter is designed to put DNA into the context of the larger chromosomal unit. Specialized chromosomal structures and sequences (centromeres, telomeres) are introduced, leading to a section on chromosome organization and purification. The next 4 chapters cover the physical (hybridization, electrophoresis), chemical (polymerase chain reaction), and biological (genetic) techniques that provide the backbone of genomic analysis. These chapters cover in significant detail the fundamental principles underlying each technique and provide a firm background for the remainder of the text. Chapters 7­9 consider the need and methods for the development of physical maps. Chapter 7 primarily discusses chromosomal localization techniques, including in situ hybridization, FISH, and chromosome paintings. The next two chapters focus on the development of libraries and clones. In particular, Chapter 9 considers the limitations of current mapping and clone production. The current state and future of DNA sequencing is covered in the next three chapters. The first considers the current methods of DNA sequencing - especially gel-based methods of analysis, although other possible approaches (mass spectrometry) are introduced. Much of the chapter addresses the limitations of current methods, including

Learnings from LCA-based methods: should chemicals in food packaging be a priority focus to protect human health?

DEFF Research Database (Denmark)

Ernstoff, Alexi; Stylianou, Katerina S.; Fantke, Peter

2017-01-01

Given the scale and variety of human health damage (HHD) caused by food systems, prioritization methods are urgently needed. In this study HHD is estimated for case studies on red meat and sugary sweetened beverages (SSB) packaged in high-impact polystyrene (HIPS) due to various relevant health...... impacts. Specifically, we aim to asses if chemicals in food packaging are important to HHD in a life cycle context. The functional unit is "daily consumption of a packaged food per person in the United States." Method developments focus on human toxicity characterization of chemicals migrating from...... packaging into food. Chemicals and their concentrations in HIPS were identified from regulatory lists. A new high-throughput model estimated migration into food, depending on properties of chemicals, packaging, food, and scenario, and HHD was extrapolated following LCA characterization methods. An LCA...

Integrating genomics into evolutionary medicine.

Science.gov (United States)

Rodríguez, Juan Antonio; Marigorta, Urko M; Navarro, Arcadi

2014-12-01

The application of the principles of evolutionary biology into medicine was suggested long ago and is already providing insight into the ultimate causes of disease. However, a full systematic integration of medical genomics and evolutionary medicine is still missing. Here, we briefly review some cases where the combination of the two fields has proven profitable and highlight two of the main issues hindering the development of evolutionary genomic medicine as a mature field, namely the dissociation between fitness and health and the still considerable difficulties in predicting phenotypes from genotypes. We use publicly available data to illustrate both problems and conclude that new approaches are needed for evolutionary genomic medicine to overcome these obstacles. Copyright © 2014 Elsevier Ltd. All rights reserved.

ATM signaling and genomic stability in response to DNA damage

International Nuclear Information System (INIS)

Lavin, Martin F.; Birrell, Geoff; Chen, Philip; Kozlov, Sergei; Scott, Shaun; Gueven, Nuri

2005-01-01

DNA double strand breaks represent the most threatening lesion to the integrity of the genome in cells exposed to ionizing radiation and radiomimetic chemicals. Those breaks are recognized, signaled to cell cycle checkpoints and repaired by protein complexes. The product of the gene (ATM) mutated in the human genetic disorder ataxia-telangiectasia (A-T) plays a central role in the recognition and signaling of DNA damage. ATM is one of an ever growing number of proteins which when mutated compromise the stability of the genome and predispose to tumour development. Mechanisms for recognising double strand breaks in DNA, maintaining genome stability and minimizing risk of cancer are discussed

Genomic analysis of diversity, population structure, virulence, and antimicrobial resistance in Klebsiella pneumoniae, an urgent threat to public health

Science.gov (United States)

Holt, Kathryn E.; Wertheim, Heiman; Zadoks, Ruth N.; Baker, Stephen; Whitehouse, Chris A.; Dance, David; Jenney, Adam; Connor, Thomas R.; Hsu, Li Yang; Severin, Juliëtte; Brisse, Sylvain; Cao, Hanwei; Wilksch, Jonathan; Gorrie, Claire; Schultz, Mark B.; Edwards, David J.; Nguyen, Kinh Van; Nguyen, Trung Vu; Dao, Trinh Tuyet; Mensink, Martijn; Minh, Vien Le; Nhu, Nguyen Thi Khanh; Schultsz, Constance; Kuntaman, Kuntaman; Newton, Paul N.; Moore, Catrin E.; Strugnell, Richard A.; Thomson, Nicholas R.

2015-01-01

Klebsiella pneumoniae is now recognized as an urgent threat to human health because of the emergence of multidrug-resistant strains associated with hospital outbreaks and hypervirulent strains associated with severe community-acquired infections. K. pneumoniae is ubiquitous in the environment and can colonize and infect both plants and animals. However, little is known about the population structure of K. pneumoniae, so it is difficult to recognize or understand the emergence of clinically important clones within this highly genetically diverse species. Here we present a detailed genomic framework for K. pneumoniae based on whole-genome sequencing of more than 300 human and animal isolates spanning four continents. Our data provide genome-wide support for the splitting of K. pneumoniae into three distinct species, KpI (K. pneumoniae), KpII (K. quasipneumoniae), and KpIII (K. variicola). Further, for K. pneumoniae (KpI), the entity most frequently associated with human infection, we show the existence of >150 deeply branching lineages including numerous multidrug-resistant or hypervirulent clones. We show K. pneumoniae has a large accessory genome approaching 30,000 protein-coding genes, including a number of virulence functions that are significantly associated with invasive community-acquired disease in humans. In our dataset, antimicrobial resistance genes were common among human carriage isolates and hospital-acquired infections, which generally lacked the genes associated with invasive disease. The convergence of virulence and resistance genes potentially could lead to the emergence of untreatable invasive K. pneumoniae infections; our data provide the whole-genome framework against which to track the emergence of such threats. PMID:26100894

77 FR 55853 - National Human Genome Research Institute; Amended Notice of Meeting

Science.gov (United States)

2012-09-11

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Advisory Council for Human Genome Research, September 10, 2012, 8:30 a.m. to September 11, 2012, 5...

All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health.

Science.gov (United States)

Lawler, Mark; Siu, Lillian L; Rehm, Heidi L; Chanock, Stephen J; Alterovitz, Gil; Burn, John; Calvo, Fabien; Lacombe, Denis; Teh, Bin Tean; North, Kathryn N; Sawyers, Charles L

2015-11-01

The recent explosion of genetic and clinical data generated from tumor genome analysis presents an unparalleled opportunity to enhance our understanding of cancer, but this opportunity is compromised by the reluctance of many in the scientific community to share datasets and the lack of interoperability between different data platforms. The Global Alliance for Genomics and Health is addressing these barriers and challenges through a cooperative framework that encourages "team science" and responsible data sharing, complemented by the development of a series of application program interfaces that link different data platforms, thus breaking down traditional silos and liberating the data to enable new discoveries and ultimately benefit patients. ©2015 American Association for Cancer Research.

Assessing exposure and health consequences of chemicals in drinking water: current state of knowledge and research needs.

Science.gov (United States)

Villanueva, Cristina M; Kogevinas, Manolis; Cordier, Sylvaine; Templeton, Michael R; Vermeulen, Roel; Nuckols, John R; Nieuwenhuijsen, Mark J; Levallois, Patrick

2014-03-01

Safe drinking water is essential for well-being. Although microbiological contamination remains the largest cause of water-related morbidity and mortality globally, chemicals in water supplies may also cause disease, and evidence of the human health consequences is limited or lacking for many of them. We aimed to summarize the state of knowledge, identify gaps in understanding, and provide recommendations for epidemiological research relating to chemicals occurring in drinking water. Assessing exposure and the health consequences of chemicals in drinking water is challenging. Exposures are typically at low concentrations, measurements in water are frequently insufficient, chemicals are present in mixtures, exposure periods are usually long, multiple exposure routes may be involved, and valid biomarkers reflecting the relevant exposure period are scarce. In addition, the magnitude of the relative risks tends to be small. Research should include well-designed epidemiological studies covering regions with contrasting contaminant levels and sufficient sample size; comprehensive evaluation of contaminant occurrence in combination with bioassays integrating the effect of complex mixtures; sufficient numbers of measurements in water to evaluate geographical and temporal variability; detailed information on personal habits resulting in exposure (e.g., ingestion, showering, swimming, diet); collection of biological samples to measure relevant biomarkers; and advanced statistical models to estimate exposure and relative risks, considering methods to address measurement error. Last, the incorporation of molecular markers of early biological effects and genetic susceptibility is essential to understand the mechanisms of action. There is a particular knowledge gap and need to evaluate human exposure and the risks of a wide range of emerging contaminants. Villanueva CM, Kogevinas M, Cordier S, Templeton MR, Vermeulen R, Nuckols JR, Nieuwenhuijsen MJ, Levallois P. 2014. Assessing

National human genome projects: an update and an agenda.

Science.gov (United States)

An, Joon Yong

2017-01-01

Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in defined population. This perspective summarizes national genome projects conducted in the past 10 years and introduces case studies to utilize genomic data in genetic research.

Probabilistic human health risk assessment of degradation-related chemical mixtures in heterogeneous aquifers: Risk statistics, hot spots, and preferential channels

Science.gov (United States)

Henri, Christopher V.; Fernàndez-Garcia, Daniel; de Barros, Felipe P. J.

2015-06-01

The increasing presence of toxic chemicals released in the subsurface has led to a rapid growth of social concerns and the need to develop and employ models that can predict the impact of groundwater contamination on human health risk under uncertainty. Monitored natural attenuation is a common remediation action in many contamination cases. However, natural attenuation can lead to the production of daughter species of distinct toxicity that may pose challenges in pollution management strategies. The actual threat that these contaminants pose to human health depends on the interplay between the complex structure of the geological media and the toxicity of each pollutant byproduct. This work addresses human health risk for chemical mixtures resulting from the sequential degradation of a contaminant (such as a chlorinated solvent) under uncertainty through high-resolution three-dimensional numerical simulations. We systematically investigate the interaction between aquifer heterogeneity, flow connectivity, contaminant injection model, and chemical toxicity in the probabilistic characterization of health risk. We illustrate how chemical-specific travel times control the regime of the expected risk and its corresponding uncertainties. Results indicate conditions where preferential flow paths can favor the reduction of the overall risk of the chemical mixture. The overall human risk response to aquifer connectivity is shown to be nontrivial for multispecies transport. This nontriviality is a result of the interaction between aquifer heterogeneity and chemical toxicity. To quantify the joint effect of connectivity and toxicity in health risk, we propose a toxicity-based Damköhler number. Furthermore, we provide a statistical characterization in terms of low-order moments and the probability density function of the individual and total risks.

77 FR 27471 - National Human Genome Research Institute Amended Notice of Meeting

Science.gov (United States)

2012-05-10

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Human Genome Research Institute Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Advisory Council for Human Genome Research, May 21, 2012, 8:30 a.m. to May 22, 2012, 5:00 p.m...

Translating genomics: cancer genetics, public health and the making of the (de)molecularised body in Cuba and Brazil.

Science.gov (United States)

Gibbon, Sahra

2016-01-01

This article examines how cancer genetics has emerged as a focus for research and healthcare in Cuba and Brazil. Drawing on ethnographic research undertaken in community genetics clinics and cancer genetics services, the article examines how the knowledge and technologies associated with this novel area of healthcare are translated and put to work by researchers, health professionals, patients and their families in these two contexts. It illuminates the comparative similarities and differences in how cancer genetics is emerging in relation to transnational research priorities, the history and contemporary politics of public health and embodied vulnerability to cancer that reconfigures the scope and meaning of genomics as "personalised" medicine.

Health-related quality of life of chemical warfare victims: an assessment with the use of a specific tool.

Science.gov (United States)

Biat Saeed, Khaled; Parandeh, Akram; Alhani, Fatemeh; Salaree, Mohammad Mehdi

2014-02-01

Exposure to chemical warfare gases significantly changes the quality of life (QoL) of victims and has significant chronic adverse effects. This study sought to assess the health-related QoL (HRQoL) of chemical victims by means of a tool specifically designed for this purpose. The correlation of their QoL with several demographic factors was evaluated as well. In this descriptive cross-sectional study, 120 chemical warfare victims were selected from subjects presenting to selected medical centers in Tehran in 2012 using convenience sampling. Two questionnaires of demographic information and HRQoL of chemical warfare victims (specific tool) were used for data collection. The data were analyzed using SPSS version 20 software (IBM, Armonk, NY, USA). The mean and standard deviation (mean ± SD) of scores obtained by chemical warfare victims in physical, psychosocial and spiritual domains was 39.6 ± 16.5, 42.1 ± 15.2 and 82.4 ± 15.4, respectively. Different age groups showed a significant difference in the psychosocial domain score (P chemical warfare victims, it can be used as strategically for these patients to help them cope with their injury and improve their physical and psychosocial health and QoL.

Hazards in the chemical laboratory

International Nuclear Information System (INIS)

Bretherick, L.

1987-01-01

The contents of this book are: Preface; Introduction; Health and Safety at Work Act 1974; Safety Planning and Management; Fire Protection; Reactive Chemical Hazards; Chemical Hazards and Toxicology; Health Care and First Aid; Hazardous Chemicals; Precautions against Radiations; and An American View

Effectuality of Cleaning Workers' Training and Cleaning Enterprises' Chemical Health Hazard Risk Profiling.

Science.gov (United States)

Suleiman, Abdulqadir M; Svendsen, Kristin V H

2015-12-01

Goal-oriented communication of risk of hazards is necessary in order to reduce risk of workers' exposure to chemicals. Adequate training of workers and enterprise priority setting are essential elements. Cleaning enterprises have many challenges and the existing paradigms influence the risk levels of these enterprises. Information on organization and enterprises' prioritization in training programs was gathered from cleaning enterprises. A measure of enterprises' conceptual level of importance of chemical health hazards and a model for working out the risk index (RI) indicating enterprises' conceptual risk level was established and used to categorize the enterprises. In 72.3% of cases, training takes place concurrently with task performances and in 67.4% experienced workers conduct the trainings. There is disparity between employers' opinion on competence level of the workers and reality. Lower conceptual level of importance was observed for cleaning enterprises of different sizes compared with regional safety delegates and occupational hygienists. Risk index values show no difference in risk level between small and large enterprises. Training of cleaning workers lacks the prerequisite for suitability and effectiveness to counter risks of chemical health hazards. There is dereliction of duty by management in the sector resulting in a lack of competence among the cleaning workers. Instituting acceptable easily attainable safety competence level for cleaners will conduce to risk reduction, and enforcement of attainment of the competence level would be a positive step.

Implementation of a patient-facing genomic test report in the electronic health record using a web-application interface.

Science.gov (United States)

Williams, Marc S; Kern, Melissa S; Lerch, Virginia R; Billet, Jonathan; Williams, Janet L; Moore, Gregory J

2018-05-30

Genomic medicine is emerging into clinical care. Communication of genetic laboratory results to patients and providers is hampered by the complex technical nature of the laboratory reports. This can lead to confusion and misinterpretation of the results resulting in inappropriate care. Patients usually do not receive a copy of the report leading to further opportunities for miscommunication. To address these problems, interpretive reports were created using input from the intended end users, patients and providers. This paper describes the technical development and deployment of the first patient-facing genomic test report (PGR) within an electronic health record (EHR) ecosystem using a locally developed standards-based web-application interface. A patient-facing genomic test report with a companion provider report was configured for implementation within the EHR using a locally developed software platform, COMPASS™. COMPASS™ is designed to manage secure data exchange, as well as patient and provider access to patient reported data capture and clinical display tools. COMPASS™ is built using a Software as a Service (SaaS) approach which exposes an API that apps can interact with. An authoring tool was developed that allowed creation of patient-specific PGRs and the accompanying provider reports. These were converted to a format that allowed them to be presented in the patient portal and EHR respectively using the existing COMPASS™ interface thus allowing patients, caregivers and providers access to individual reports designed for the intended end user. The PGR as developed was shown to enhance patient and provider communication around genomic results. It is built on current standards but is designed to support integration with other tools and be compatible with emerging opportunities such as SMART on FHIR. This approach could be used to support genomic return of results as the tool is scalable and generalizable.

Reevaluation of 1999 Health-Based Environmental Screening Levels (HBESLs) for Chemical Warfare Agents

Energy Technology Data Exchange (ETDEWEB)

Watson, Annetta Paule [ORNL; Dolislager, Fredrick G [ORNL

2007-05-01

This report evaluates whether new information and updated scientific models require that changes be made to previously published health-based environmental soil screening levels (HBESLs) and associated environmental fate/breakdown information for chemical warfare agents (USACHPPM 1999). Specifically, the present evaluation describes and compares changes that have been made since 1999 to U.S. Environmental Protection Agency (EPA) risk assessment models, EPA exposure assumptions, as well as to specific chemical warfare agent parameters (e.g., toxicity values). Comparison was made between screening value estimates recalculated with current assumptions and earlier health-based environmental screening levels presented in 1999. The chemical warfare agents evaluated include the G-series and VX nerve agents and the vesicants sulfur mustard (agent HD) and Lewisite (agent L). In addition, key degradation products of these agents were also evaluated. Study findings indicate that the combined effect of updates and/or changes to EPA risk models, EPA default exposure parameters, and certain chemical warfare agent toxicity criteria does not result in significant alteration to the USACHPPM (1999) health-based environmental screening level estimates for the G-series and VX nerve agents or the vesicant agents HD and L. Given that EPA's final position on separate Tier 1 screening levels for indoor and outdoor worker screening assessments has not yet been released as of May 2007, the study authors find that the 1999 screening level estimates (see Table ES.1) are still appropriate and protective for screening residential as well as nonresidential sites. As such, risk management decisions made on the basis of USACHPPM (1999) recommendations do not require reconsideration. While the 1999 HBESL values are appropriate for continued use as general screening criteria, the updated '2007' estimates (presented below) that follow the new EPA protocols currently under development

Plant-symbiotic fungi as chemical engineers: multi-genome analysis of the clavicipitaceae reveals dynamics of alkaloid loci.

Directory of Open Access Journals (Sweden)

Christopher L Schardl

Full Text Available The fungal family Clavicipitaceae includes plant symbionts and parasites that produce several psychoactive and bioprotective alkaloids. The family includes grass symbionts in the epichloae clade (Epichloë and Neotyphodium species, which are extraordinarily diverse both in their host interactions and in their alkaloid profiles. Epichloae produce alkaloids of four distinct classes, all of which deter insects, and some-including the infamous ergot alkaloids-have potent effects on mammals. The exceptional chemotypic diversity of the epichloae may relate to their broad range of host interactions, whereby some are pathogenic and contagious, others are mutualistic and vertically transmitted (seed-borne, and still others vary in pathogenic or mutualistic behavior. We profiled the alkaloids and sequenced the genomes of 10 epichloae, three ergot fungi (Claviceps species, a morning-glory symbiont (Periglandula ipomoeae, and a bamboo pathogen (Aciculosporium take, and compared the gene clusters for four classes of alkaloids. Results indicated a strong tendency for alkaloid loci to have conserved cores that specify the skeleton structures and peripheral genes that determine chemical variations that are known to affect their pharmacological specificities. Generally, gene locations in cluster peripheries positioned them near to transposon-derived, AT-rich repeat blocks, which were probably involved in gene losses, duplications, and neofunctionalizations. The alkaloid loci in the epichloae had unusual structures riddled with large, complex, and dynamic repeat blocks. This feature was not reflective of overall differences in repeat contents in the genomes, nor was it characteristic of most other specialized metabolism loci. The organization and dynamics of alkaloid loci and abundant repeat blocks in the epichloae suggested that these fungi are under selection for alkaloid diversification. We suggest that such selection is related to the variable life histories

Genomic medicine and ethnic differences in cardiovascular disease risk

Science.gov (United States)

The origins of health disparities are a poorly understood public health problem. The effects of culture, environmental hazards, and social marginalization differ between ethnicities and have strong effects on health differences. The role of the genome in health is well established and we present a s...

Fenton reaction induced cancer in wild type rats recapitulates genomic alterations observed in human cancer.

Directory of Open Access Journals (Sweden)

Shinya Akatsuka

Full Text Available Iron overload has been associated with carcinogenesis in humans. Intraperitoneal administration of ferric nitrilotriacetate initiates a Fenton reaction in renal proximal tubules of rodents that ultimately leads to a high incidence of renal cell carcinoma (RCC after repeated treatments. We performed high-resolution microarray comparative genomic hybridization to identify characteristics in the genomic profiles of this oxidative stress-induced rat RCCs. The results revealed extensive large-scale genomic alterations with a preference for deletions. Deletions and amplifications were numerous and sometimes fragmented, demonstrating that a Fenton reaction is a cause of such genomic alterations in vivo. Frequency plotting indicated that two of the most commonly altered loci corresponded to a Cdkn2a/2b deletion and a Met amplification. Tumor sizes were proportionally associated with Met expression and/or amplification, and clustering analysis confirmed our results. Furthermore, we developed a procedure to compare whole genomic patterns of the copy number alterations among different species based on chromosomal syntenic relationship. Patterns of the rat RCCs showed the strongest similarity to the human RCCs among five types of human cancers, followed by human malignant mesothelioma, an iron overload-associated cancer. Therefore, an iron-dependent Fenton chemical reaction causes large-scale genomic alterations during carcinogenesis, which may result in distinct genomic profiles. Based on the characteristics of extensive genome alterations in human cancer, our results suggest that this chemical reaction may play a major role during human carcinogenesis.

Impact of HIPAA's minimum necessary standard on genomic data sharing.

Science.gov (United States)

Evans, Barbara J; Jarvik, Gail P

2018-04-01

This article provides a brief introduction to the Health Insurance Portability and Accountability Act of 1996 (HIPAA) Privacy Rule's minimum necessary standard, which applies to sharing of genomic data, particularly clinical data, following 2013 Privacy Rule revisions. This research used the Thomson Reuters Westlaw database and law library resources in its legal analysis of the HIPAA privacy tiers and the impact of the minimum necessary standard on genomic data sharing. We considered relevant example cases of genomic data-sharing needs. In a climate of stepped-up HIPAA enforcement, this standard is of concern to laboratories that generate, use, and share genomic information. How data-sharing activities are characterized-whether for research, public health, or clinical interpretation and medical practice support-affects how the minimum necessary standard applies and its overall impact on data access and use. There is no clear regulatory guidance on how to apply HIPAA's minimum necessary standard when considering the sharing of information in the data-rich environment of genomic testing. Laboratories that perform genomic testing should engage with policy makers to foster sound, well-informed policies and appropriate characterization of data-sharing activities to minimize adverse impacts on day-to-day workflows.

Endocrine-disrupting chemicals and public health protection

DEFF Research Database (Denmark)

Zoeller, R Thomas; Brown, T R; Doan, L L

2012-01-01

An endocrine-disrupting chemical (EDC) is an exogenous chemical, or mixture of chemicals, that can interfere with any aspect of hormone action. The potential for deleterious effects of EDC must be considered relative to the regulation of hormone synthesis, secretion, and actions and the variabili...

Perspectives on Clinical Informatics: Integrating Large-Scale Clinical, Genomic, and Health Information for Clinical Care

Directory of Open Access Journals (Sweden)

In Young Choi

2013-12-01

Full Text Available The advances in electronic medical records (EMRs and bioinformatics (BI represent two significant trends in healthcare. The widespread adoption of EMR systems and the completion of the Human Genome Project developed the technologies for data acquisition, analysis, and visualization in two different domains. The massive amount of data from both clinical and biology domains is expected to provide personalized, preventive, and predictive healthcare services in the near future. The integrated use of EMR and BI data needs to consider four key informatics areas: data modeling, analytics, standardization, and privacy. Bioclinical data warehouses integrating heterogeneous patient-related clinical or omics data should be considered. The representative standardization effort by the Clinical Bioinformatics Ontology (CBO aims to provide uniquely identified concepts to include molecular pathology terminologies. Since individual genome data are easily used to predict current and future health status, different safeguards to ensure confidentiality should be considered. In this paper, we focused on the informatics aspects of integrating the EMR community and BI community by identifying opportunities, challenges, and approaches to provide the best possible care service for our patients and the population.

Occupational risks for health of the workers of the chemical complex

Directory of Open Access Journals (Sweden)

E.T. Valeyeva

2016-09-01

Full Text Available The article summarizes the materials of long-term studies to assess the working conditions, state of health in workers of the chemical industry - mainly manufacturers of ethylbenzene, styrene, olefin oxides, rocket fuel. It was found that the most adverse working conditions are typical for the production of heptyl, rubber and fiberglass. The causal relationships of working conditions in the form of an increased incidence of early (pre-clinical stages of occupational diseases, as well as major chronic non-communicable diseases, are identified. It is shown that depending on the tropism, mechanism of action and intensity of the chemical factor a clear staging of the development of pathological changes in the body is recorded. A very high degree of professional conditionality of early toxic hepatitis stages (biliary dyskinesia in a heptyl production operator was determined, as well as initial manifestations of autonomic-sensory polyneuropathy in hands of the workers splicing rubber products, specific changes of the hand skin in glass production operators. Production-related diseases with a high degree of conditionality in certain categories of workers include diseases of the musculoskeletal system; hypertension had an average degree of conditionality. During in-depth medical examination of 2411 workers it was found that the largest number of healthy individuals were identified in the bulk manufacture of ethylbenzene – styrene (54.7 %, and olefin oxide (35,0 % of the number of inspected workers, the least number (12 % – in the manufacture of rubber products. The remaining workers demonstrated the pathology of various organs and systems. Based on the results of risk assessment and professional damage to the workers’ health the chemical productions are ranked according to their degree of danger, a system of preventive measures and risk management principles has been developed. The programme implementation resulted in the positive effect of more

Functional RNA structures throughout the Hepatitis C Virus genome.

Science.gov (United States)

Adams, Rebecca L; Pirakitikulr, Nathan; Pyle, Anna Marie

2017-06-01

The single-stranded Hepatitis C Virus (HCV) genome adopts a set of elaborate RNA structures that are involved in every stage of the viral lifecycle. Recent advances in chemical probing, sequencing, and structural biology have facilitated analysis of RNA folding on a genome-wide scale, revealing novel structures and networks of interactions. These studies have underscored the active role played by RNA in every function of HCV and they open the door to new types of RNA-targeted therapeutics. Copyright © 2017 Elsevier B.V. All rights reserved.

Global Implementation of Genomic Medicine: We Are Not Alone

Science.gov (United States)

Manolio, Teri A.; Abramowicz, Marc; Al-Mulla, Fahd; Anderson, Warwick; Balling, Rudi; Berger, Adam C.; Bleyl, Steven; Chakravarti, Aravinda; Chantratita, Wasun; Chisholm, Rex L.; Dissanayake, Vajira H. W.; Dunn, Michael; Dzau, Victor J.; Han, Bok-Ghee; Hubbard, Tim; Kolbe, Anne; Korf, Bruce; Kubo, Michiaki; Lasko, Paul; Leego, Erkki; Mahasirimongkol, Surakameth; Majumdar, Partha P.; Matthijs, Gert; McLeod, Howard L.; Metspalu, Andres; Meulien, Pierre; Miyano, Satoru; Naparstek, Yaakov; O’Rourke, P. Pearl; Patrinos, George P.; Rehm, Heidi L.; Relling, Mary V.; Rennert, Gad; Rodriguez, Laura Lyman; Roden, Dan M.; Shuldiner, Alan R.; Sinha, Sukdev; Tan, Patrick; Ulfendahl, Mats; Ward, Robyn; Williams, Marc S.; Wong, John E.L.; Green, Eric D.; Ginsburg, Geoffrey S.

2016-01-01

Advances in high-throughput genomic technologies coupled with a growing number of genomic results potentially useful in clinical care have led to ground-breaking genomic medicine implementation programs in various nations. Many of these innovative programs capitalize on unique local capabilities arising from the structure of their health care systems or their cultural or political milieu, as well as from unusual burdens of disease or risk alleles. Many such programs are being conducted in relative isolation and might benefit from sharing of approaches and lessons learned in other nations. The National Human Genome Research Institute recently brought together 25 of these groups from around the world to describe and compare projects, examine the current state of implementation and desired near-term capabilities, and identify opportunities for collaboration to promote the responsible implementation of genomic medicine. The wide variety of nascent programs in diverse settings demonstrates that implementation of genomic medicine is expanding globally in varied and highly innovative ways. Opportunities for collaboration abound in the areas of evidence generation, health information technology, education, workforce development, pharmacogenomics, and policy and regulatory issues. Several international organizations that are already facilitating effective research collaborations should engage to ensure implementation proceeds collaboratively without potentially wasteful duplication. Efforts to coalesce these groups around concrete but compelling signature projects, such as global eradication of genetically-mediated drug reactions or developing a truly global genomic variant data resource across a wide number of ethnicities, would accelerate appropriate implementation of genomics to improve clinical care world-wide. PMID:26041702

NIMH Repository and Genomics Resources (RGR)

Data.gov (United States)

U.S. Department of Health & Human Services — The NIMH Repository and Genomics Resource (RGR) stores biosamples, genetic, pedigree and clinical data collected in designated NIMH-funded human subject studies. The...

The Extended Nutrigenomics – Understanding the Interplay between the Genomes of Food, Gut Microbes and Human Host

Directory of Open Access Journals (Sweden)

Martin eKussmann

2011-05-01

Full Text Available Comprehensive investigation of nutritional health effects at molecular level requires understanding the interplay between three genomes, the food, the gut microbial and the human host genome. Food genomes are researched for exploitation of macro- and micronutrients as well as bioactives, with the genes coding for bioactive proteins and peptides being of central interest. The human gut microbiota encompasses a complex intestinal ecosystem with profound impact on host metabolism. It is studied at genomic, proteomic and metabolomic level. Humans are characterized at the level of: genetic predisposition and variability in terms of dietary response and direction of health trajectories; epigenetic, metabolic programming at certain life stages with health consequences later in life and for subsequent generations; and acute genomic expression as a holistic response to diet, monitored at gene transcript, protein and metabolite level.Modern nutrition science explores health aspects of bioactive food components, thereby promoting health, preventing or delaying the onset of disease, optimizing performance and assessing benefits and risks. Personalized nutrition means adapting food to individual needs, depending on the human host’s life stage, -style and -situation. Traditionally, nutrigenomics and nutri(epigenetics have been seen as the key sciences to understand human variability in preferences and requirements for diet as well as responses to nutrition. This article puts the three nutrition and health-relevant genomes into perspective, i.e. the food, the gut microbial and the human host’s genome, and calls for an extended nutrigenomics approach to build the future tools for personalized nutrition, health maintenance and disease prevention. We discuss examples of these genomes, proteomes, transcriptomes and metabolomes under the overarching term genomics that covers all Omics rather than the sole study of DNA and RNA.

The Human Genome Initiative of the Department of Energy

Science.gov (United States)

1988-01-01

The structural characterization of genes and elucidation of their encoded functions have become a cornerstone of modern health research, biology and biotechnology. A genome program is an organized effort to locate and identify the functions of all the genes of an organism. Beginning with the DOE-sponsored, 1986 human genome workshop at Santa Fe, the value of broadly organized efforts supporting total genome characterization became a subject of intensive study. There is now national recognition that benefits will rapidly accrue from an effective scientific infrastructure for total genome research. In the US genome research is now receiving dedicated funds. Several other nations are implementing genome programs. Supportive infrastructure is being improved through both national and international cooperation. The Human Genome Initiative of the Department of Energy (DOE) is a focused program of Resource and Technology Development, with objectives of speeding and bringing economies to the national human genome effort. This report relates the origins and progress of the Initiative.

Towards validating use of self reported health (SRH) for community-based studies: Impact of environmental chemicals, sociodemographic variables, depression, and clinical indicators of health and nutrition

Science.gov (United States)

Environmental health impact assessment (HIA) studies, should consider social, behavioral, nutritional, dietary, environmental exposure and health risk factors at both the individual and community levels. Chemicals measured in blood or urine are often evaluated in relation to one ...

A Genomic Approach: The Effects of Bisphenol A on Zebrafish

Science.gov (United States)

Genomics, proteomics, and metabolomics are emerging technologies used to analyze the effects of the increasing level of environmental pollutants that are affecting aquatic organisms. Some of these toxins are considered endocrine-disrupting chemicals (EDC) due to their interferenc...

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

DEFF Research Database (Denmark)

Skirton, Heather; Lewis, Celine; Kent, Alastair

2010-01-01

in professional education and regulation between European countries, setting curricula may not be practical. Core competences are used as a basis for health professional education in many fields and settings. An Expert Group working under the auspices of the EuroGentest project and European Society of Human...... Genetics Education Committee agreed that a pragmatic solution to the need to establish common standards for education and practice in genetic health care was to agree to a set of core competences that could apply across Europe. These were agreed through an exhaustive process of consultation with relevant......The use of genetics and genomics within a wide range of health-care settings requires health professionals to develop expertise to practise appropriately. There is a need for a common minimum standard of competence in genetics for health professionals in Europe but because of differences...

[Shiftwork and health--experience from a chemical company].

Science.gov (United States)

Oberlinner, C; Lang, S; Nasterlack, M; Yong, M

2013-03-01

Shiftwork is an essential part of our society. At the same time scientific evaluations demonstrate possible negative effects of shiftwork on the health status of the employees. Against this background we performed different studies to evaluate these effects within the specific shift system in a large chemical site in Germany. METHODS AND STUDY GROUP: To evaluate the impact of the different working times on job-related stress perception and work-life-balance we performed a cross-sectional study with 1494 blue collar workers (825 shift- and 669 day workers). Employees working in the rotating shift system reported lower frequencies of perceived time pressure (p = 0.008), and lower stress levels (p = 0.01), compared to the day workers. No significant difference was found with regard to work-life-balance and other aspects of job-related stress perception within both groups. Against the general opinion and study-results in the past we did not find a negative effect of our shift-system on self-reported stress. These results are in accordance with results of other cohort-studies on the specific shift system within the company demonstrating no difference in the health status of our shift workers compared to day workers. © Georg Thieme Verlag KG Stuttgart · New York.

Reducing health risk assigned to organic emissions from a chemical weapons incinerator.

Science.gov (United States)

Laman, David M; Weiler, B Douglas; Skeen, Rodney S

2013-03-01

Organic emissions from a chemical weapons incinerator have been characterized with an improved set of analytical methods to reduce the human health risk assigned to operations of the facility. A gas chromatography/mass selective detection method with substantially reduced detection limits has been used in conjunction with scanning electron microscopy/energy dispersive X-ray spectrometry and Fourier transform infrared microscopy to improve the speciation of semi-volatile and non-volatile organics emitted from the incinerator. The reduced detection limits have allowed a significant reduction in the assumed polycyclic aromatic hydrocarbon (PAH) and aminobiphenyl (ABP) emission rates used as inputs to the human health risk assessment for the incinerator. A mean factor of 17 decrease in assigned human health risk is realized for six common local exposure scenarios as a result of the reduced PAH and ABP detection limits.

Health assessment for Maywood Chemical Company, Maywood, Bergen County, New Jersey, Region 2. CERCLIS No. NJD980529762. Final report

International Nuclear Information System (INIS)

1990-01-01

The Health Assessment for the Maywood Chemical Company Site includes the Maywood Interim Storage Site (MISS), the Ballod property, the Scanel site, residential properties, and the Sears warehouse and its adjacent properties, all of which are located in the towns of Maywood and Rochelle Park of Bergen County, New Jersey. These sites are at different investigative or remediation stages under the auspices of both the U.S. Environmental Protection Agency (EPA) and the U.S. Department of Energy (DOE). The EPA is responsible for chemical characterization and cleanup operations, whereas the DOE is primarily in charge of radiologic analysis and remediation. On the basis of the information reviewed, ATSDR and NJDOH have concluded that the Maywood Chemical site is of public health concern because humans have probably been exposed to hazardous substances at concentrations that may result in adverse health effects. As noted in the Environmental Contamination and Physical Hazards section above, human exposure to chemical and radiological contamination is probably occurring and has probably occurred in the past via the use of contaminated groundwater and contact with contaminated soils. Before suspected areas of contamination are developed, both on-site contamination and the potential off-site migration of contaminants need to be fully evaluated. Developing an area, without characterizing potential contamination could lead to an adverse impact on the public health

Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy.

Science.gov (United States)

Vozikis, Athanassios; Cooper, David N; Mitropoulou, Christina; Kambouris, Manousos E; Brand, Angela; Dolzan, Vita; Fortina, Paolo; Innocenti, Federico; Lee, Ming Ta Michael; Leyens, Lada; Macek, Milan; Al-Mulla, Fahd; Prainsack, Barbara; Squassina, Alessio; Taruscio, Domenica; van Schaik, Ron H; Vayena, Effy; Williams, Marc S; Patrinos, George P

2016-01-01

This paper aims to provide an overview of the rationale and basic principles guiding the governance of genomic testing services, to clarify their objectives, and allocate and define responsibilities among stakeholders in a health-care system, with a special focus on the EU countries. Particular attention is paid to issues pertaining to pricing and reimbursement policies, the availability of essential genomic tests which differs between various countries owing to differences in disease prevalence and public health relevance, the prescribing and use of genomic testing services according to existing or new guidelines, budgetary and fiscal control, the balance between price and access to innovative testing, monitoring and evaluation for cost-effectiveness and safety, and the development of research capacity. We conclude that addressing the specific items put forward in this article will help to create a robust policy in relation to pricing and reimbursement in genomic medicine. This will contribute to an effective and sustainable health-care system and will prove beneficial to the economy at large. © 2016 S. Karger AG, Basel.

The role of cellular and molecular studies in evaluation of health effects from combined radiation and chemical exposures

International Nuclear Information System (INIS)

Brooks, A.L.; Gilbert, E.S.; Kitchin, R.M.; Johnson, N.F.

1992-06-01

Additive models are currently used to predict risks following exposure to multiple agents or complex mixtures. Use of these models is questioned because different methods are used to derive risks for chemical and physical agents depending on the database used. Risks for the induction of cancer from radiation are based on large sets of human data, while standards are set for most chemical carcinogens using information derived from animal studies. However, it is not, from a scientific point of view, appropriate to add risks from physical and chemical agents to derive potential health impact from combined exposures. The range of safety factors built into the estimates, the large differences in the data sets used to evaluate and establish standards, and the differences in the basic philosophy for deriving risks for physical and chemical agents make the additive model unacceptable for estimating risks from combined exposures. To understand the potential health impacts from environmental exposure, it is important (1) to consider how risks were derived and (2) to determine if interactions exist between damage induced by the different agents to ensure that additive assumptions are valid. This presentation discusses a number of these safety factors for specific chemicals

Genomics education for medical professionals - the current UK landscape.

Science.gov (United States)

Slade, Ingrid; Subramanian, Deepak N; Burton, Hilary

2016-08-01

Genomics education in the UK is at an early stage of development, and its pace of evolution has lagged behind that of the genomics research upon which it is based. As a result, knowledge of genomics and its applications remains limited among non-specialist clinicians. In this review article, we describe the complex landscape for genomics education within the UK, and highlight the large number and variety of organisations that can influence, direct and provide genomics training to medical professionals. Postgraduate genomics education is being shaped by the work of the Health Education England (HEE) Genomics Education Programme, working in conjunction with the Joint Committee on Genomics in Medicine. The success of their work will be greatly enhanced by the full cooperation and engagement of the many groups, societies and organisations involved with medical education and training (such as the royal colleges). Without this cooperation, there is a risk of poor coordination and unnecessary duplication of work. Leadership from an organisation such as the HEE Genomics Education Programme will have a key role in guiding the formulation and delivery of genomics education policy by various stakeholders among the different disciplines in medicine. © 2016 Royal College of Physicians.

An automated system designed for large scale NMR data deposition and annotation: application to over 600 assigned chemical shift data entries to the BioMagResBank from the Riken Structural Genomics/Proteomics Initiative internal database

International Nuclear Information System (INIS)

Kobayashi, Naohiro; Harano, Yoko; Tochio, Naoya; Nakatani, Eiichi; Kigawa, Takanori; Yokoyama, Shigeyuki; Mading, Steve; Ulrich, Eldon L.; Markley, John L.; Akutsu, Hideo; Fujiwara, Toshimichi

2012-01-01

Biomolecular NMR chemical shift data are key information for the functional analysis of biomolecules and the development of new techniques for NMR studies utilizing chemical shift statistical information. Structural genomics projects are major contributors to the accumulation of protein chemical shift information. The management of the large quantities of NMR data generated by each project in a local database and the transfer of the data to the public databases are still formidable tasks because of the complicated nature of NMR data. Here we report an automated and efficient system developed for the deposition and annotation of a large number of data sets including 1 H, 13 C and 15 N resonance assignments used for the structure determination of proteins. We have demonstrated the feasibility of our system by applying it to over 600 entries from the internal database generated by the RIKEN Structural Genomics/Proteomics Initiative (RSGI) to the public database, BioMagResBank (BMRB). We have assessed the quality of the deposited chemical shifts by comparing them with those predicted from the PDB coordinate entry for the corresponding protein. The same comparison for other matched BMRB/PDB entries deposited from 2001–2011 has been carried out and the results suggest that the RSGI entries greatly improved the quality of the BMRB database. Since the entries include chemical shifts acquired under strikingly similar experimental conditions, these NMR data can be expected to be a promising resource to improve current technologies as well as to develop new NMR methods for protein studies.

Implementation of the chemicals regulation REACH : Exploring the impact on occupational health and safety management among Swedish downstream users

OpenAIRE

Schenk, Linda; Antonsson, Ann-Beth

2015-01-01

In the present study we have examined how the European chemicals regulation Registration, Evaluation, Authorisation and Restriction of Chemicals (REACH) has influenced occupational risk management of chemicals at Swedish downstream user companies. The data were collected through interviews with occupational health and safety professionals, safety representatives and authority employees. The results show that most of the informants had scarce knowledge about REACH and that REACH implementation...

The post-Human Genome Project mindset: race, reliability, and health care.

Science.gov (United States)

Kimmelman, J

2006-11-01

The following essay reports on the first session of a 2-day workshop on genetic diversity and science communication, organized by the Institute of Genetics. I argue that the four talks in this session reflected two different facets of a 'post-Human Genome Project (HGP)' view of human genetics. The first is characterized by an increasing interest in genetic differences. Two speakers - Troy Duster and Jasber Singh - expressed skepticism about one aspect of this trend: an emphasis on race in medicine and genetics. The other two speakers - Kenneth Weiss and Gustavo Turecki - spoke to a second facet of the post-HGP view: a recognition of the difficulty in translating genetic discovery into medical or public health applications. Though both sets of talks were highly critical of current trends in genetic research, they pulled in opposite directions: one warned about the role of genetics in stabilizing racial categories, while the other lamented the failure of any genetic claims or categories to stabilize at all. I argue that the use of racial categories in medicine seems likely to encounter scientific, medical, and social challenges.

Ensembl Genomes 2016: more genomes, more complexity.

Science.gov (United States)

Kersey, Paul Julian; Allen, James E; Armean, Irina; Boddu, Sanjay; Bolt, Bruce J; Carvalho-Silva, Denise; Christensen, Mikkel; Davis, Paul; Falin, Lee J; Grabmueller, Christoph; Humphrey, Jay; Kerhornou, Arnaud; Khobova, Julia; Aranganathan, Naveen K; Langridge, Nicholas; Lowy, Ernesto; McDowall, Mark D; Maheswari, Uma; Nuhn, Michael; Ong, Chuang Kee; Overduin, Bert; Paulini, Michael; Pedro, Helder; Perry, Emily; Spudich, Giulietta; Tapanari, Electra; Walts, Brandon; Williams, Gareth; Tello-Ruiz, Marcela; Stein, Joshua; Wei, Sharon; Ware, Doreen; Bolser, Daniel M; Howe, Kevin L; Kulesha, Eugene; Lawson, Daniel; Maslen, Gareth; Staines, Daniel M

2016-01-04

Ensembl Genomes (http://www.ensemblgenomes.org) is an integrating resource for genome-scale data from non-vertebrate species, complementing the resources for vertebrate genomics developed in the context of the Ensembl project (http://www.ensembl.org). Together, the two resources provide a consistent set of programmatic and interactive interfaces to a rich range of data including reference sequence, gene models, transcriptional data, genetic variation and comparative analysis. This paper provides an update to the previous publications about the resource, with a focus on recent developments. These include the development of new analyses and views to represent polyploid genomes (of which bread wheat is the primary exemplar); and the continued up-scaling of the resource, which now includes over 23 000 bacterial genomes, 400 fungal genomes and 100 protist genomes, in addition to 55 genomes from invertebrate metazoa and 39 genomes from plants. This dramatic increase in the number of included genomes is one part of a broader effort to automate the integration of archival data (genome sequence, but also associated RNA sequence data and variant calls) within the context of reference genomes and make it available through the Ensembl user interfaces. © The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research.

Building capacity for human genetics and genomics research in Trinidad and Tobago

Directory of Open Access Journals (Sweden)

Allana Roach

Full Text Available Advances in human genetics and genomic sciences and the corresponding explosion of biomedical technologies have deepened current understanding of human health and revolutionized medicine. In developed nations, this has led to marked improvements in disease risk stratification and diagnosis. These advances have also led to targeted intervention strategies aimed at promoting disease prevention, prolonging disease onset, and mitigating symptoms, as in the well-known case of breast cancer and the BRCA1 gene. In contrast, in the developing nation of Trinidad and Tobago, this scientific revolution has not translated into the development and application of effective genomics-based interventions for improving public health. While the reasons for this are multifactorial, the underlying basis may be rooted in the lack of pertinence of internationally driven genomics research to the local public health needs in the country, as well as a lack of relevance of internationally conducted genetics research to the genetic and environmental contexts of the population. Indeed, if Trinidad and Tobago is able to harness substantial public health benefit from genetics/genomics research, then there is a dire need, in the near future, to build local capacity for the conduct and translation of such research. Specifically, it is essential to establish a national human genetics/genomics research agenda in order to build sustainable human capacity through education and knowledge transfer and to generate public policies that will provide the basis for the creation of a mutually beneficial framework (including partnerships with more developed nations that is informed by public health needs and contextual realities of the nation.

Synergy between Medical Informatics and Bioinformatics: Facilitating Genomic Medicine for Future Health Care

Czech Academy of Sciences Publication Activity Database

Martin-Sanchez, F.; Iakovidis, I.; Norager, S.; Maojo, V.; de Groen, P.; Van der Lei, J.; Jones, T.; Abraham-Fuchs, K.; Apweiler, R.; Babic, A.; Baud, R.; Breton, V.; Cinquin, P.; Doupi, P.; Dugas, M.; Eils, R.; Engelbrecht, R.; Ghazal, P.; Jehenson, P.; Kulikowski, C.; Lampe, K.; De Moor, G.; Orphanoudakis, S.; Rossing, N.; Sarachan, B.; Sousa, A.; Spekowius, G.; Thireos, G.; Zahlmann, G.; Zvárová, Jana; Hermosilla, I.; Vicente, F. J.

2004-01-01

Roč. 37, - (2004), s. 30-42 ISSN 1532-0464 Institutional research plan: CEZ:AV0Z1030915 Keywords : bioinformatics * medical informatics * genomics * genomic medicine * biomedical informatics Subject RIV: BD - Theory of Information Impact factor: 1.013, year: 2004

Guidance on health effects of toxic chemicals. Safety Analysis Report Update Program

Energy Technology Data Exchange (ETDEWEB)

Foust, C.B.; Griffin, G.D.; Munro, N.B.; Socolof, M.L.

1994-02-01

Martin Marietta Energy Systems, Inc. (MMES), and Martin Marietta Utility Services, Inc. (MMUS), are engaged in phased programs to update the safety documentation for the existing US Department of Energy (DOE)-owned facilities. The safety analysis of potential toxic hazards requires a methodology for evaluating human health effects of predicted toxic exposures. This report provides a consistent set of health effects and documents toxicity estimates corresponding to these health effects for some of the more important chemicals found within MMES and MMUS. The estimates are based on published toxicity information and apply to acute exposures for an ``average`` individual. The health effects (toxicological endpoints) used in this report are (1) the detection threshold; (2) the no-observed adverse effect level; (3) the onset of irritation/reversible effects; (4) the onset of irreversible effects; and (5) a lethal exposure, defined to be the 50% lethal level. An irreversible effect is defined as a significant effect on a person`s quality of life, e.g., serious injury. Predicted consequences are evaluated on the basis of concentration and exposure time.

Metingear: a development environment for annotating genome-scale metabolic models.

Science.gov (United States)

May, John W; James, A Gordon; Steinbeck, Christoph

2013-09-01

Genome-scale metabolic models often lack annotations that would allow them to be used for further analysis. Previous efforts have focused on associating metabolites in the model with a cross reference, but this can be problematic if the reference is not freely available, multiple resources are used or the metabolite is added from a literature review. Associating each metabolite with chemical structure provides unambiguous identification of the components and a more detailed view of the metabolism. We have developed an open-source desktop application that simplifies the process of adding database cross references and chemical structures to genome-scale metabolic models. Annotated models can be exported to the Systems Biology Markup Language open interchange format. Source code, binaries, documentation and tutorials are freely available at http://johnmay.github.com/metingear. The application is implemented in Java with bundles available for MS Windows and Macintosh OS X.

phiGENOME: an integrative navigation throughout bacteriophage genomes.

Science.gov (United States)

Stano, Matej; Klucar, Lubos

2011-11-01

phiGENOME is a web-based genome browser generating dynamic and interactive graphical representation of phage genomes stored in the phiSITE, database of gene regulation in bacteriophages. phiGENOME is an integral part of the phiSITE web portal (http://www.phisite.org/phigenome) and it was optimised for visualisation of phage genomes with the emphasis on the gene regulatory elements. phiGENOME consists of three components: (i) genome map viewer built using Adobe Flash technology, providing dynamic and interactive graphical display of phage genomes; (ii) sequence browser based on precisely formatted HTML tags, providing detailed exploration of genome features on the sequence level and (iii) regulation illustrator, based on Scalable Vector Graphics (SVG) and designed for graphical representation of gene regulations. Bringing 542 complete genome sequences accompanied with their rich annotations and references, makes phiGENOME a unique information resource in the field of phage genomics. Copyright © 2011 Elsevier Inc. All rights reserved.

How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study.

Science.gov (United States)

Sanderson, Saskia C; Linderman, Michael D; Zinberg, Randi; Bashir, Ali; Kasarskis, Andrew; Zweig, Micol; Suckiel, Sabrina; Shah, Hardik; Mahajan, Milind; Diaz, George A; Schadt, Eric E

2015-11-01

Health-care professionals need to be trained to work with whole-genome sequencing (WGS) in their practice. Our aim was to explore how students responded to a novel genome analysis course that included the option to analyze their own genomes. This was an observational cohort study. Questionnaires were administered before (T3) and after the genome analysis course (T4), as well as 6 months later (T5). In-depth interviews were conducted at T5. All students (n = 19) opted to analyze their own genomes. At T5, 12 of 15 students stated that analyzing their own genomes had been useful. Ten reported they had applied their knowledge in the workplace. Technical WGS knowledge increased (mean of 63.8% at T3, mean of 72.5% at T4; P = 0.005). In-depth interviews suggested that analyzing their own genomes may increase students' motivation to learn and their understanding of the patient experience. Most (but not all) of the students reported low levels of WGS results-related distress and low levels of regret about their decision to analyze their own genomes. Giving students the option of analyzing their own genomes may increase motivation to learn, but some students may experience personal WGS results-related distress and regret. Additional evidence is required before considering incorporating optional personal genome analysis into medical education on a large scale.

Natural mineral waters: chemical characteristics and health effects

Science.gov (United States)

Quattrini, Sara; Pampaloni, Barbara; Brandi, Maria Luisa

2016-01-01

Summary Water contributes significantly to health and a daily intake of 1.5 to 2 liters of water should be guaranteed, because a good hydration is essential to maintain the body water equilibrium, although needs may vary among people. However, worldwide population is far from the Recommended Allowance for water intake. Among the waters for human uses, there are ‘waters (treated or not), intended for drinking, used for the food and beverages preparation or for other domestic purposes’ and natural mineral waters, that are ‘originated from an aquifer or underground reservoir, spring from one or more natural or bore sources and have specific hygienic features and, eventually, healthy properties’. According to the European Legislation (2009/54/EC Directive), physical and chemical characterization is used to make a classification of the different mineral waters, basing on the analysis of main parameters. Mineral composition enables to classify natural mineral waters as bicarbonate mineral waters, sulphate mineral waters, chloride mineral waters, calcic mineral waters, magnesiac mineral waters, fluorurate mineral waters, ferrous mineral waters and sodium-rich mineral waters. Although the concerns about bottled mineral waters (due to plasticizers and endocrine disruptors), many are the health effects of natural mineral waters and several studies explored their properties and their role in different physiological and pathological conditions. PMID:28228777

Genome Maps, a new generation genome browser.

Science.gov (United States)

Medina, Ignacio; Salavert, Francisco; Sanchez, Rubén; de Maria, Alejandro; Alonso, Roberto; Escobar, Pablo; Bleda, Marta; Dopazo, Joaquín

2013-07-01

Genome browsers have gained importance as more genomes and related genomic information become available. However, the increase of information brought about by new generation sequencing technologies is, at the same time, causing a subtle but continuous decrease in the efficiency of conventional genome browsers. Here, we present Genome Maps, a genome browser that implements an innovative model of data transfer and management. The program uses highly efficient technologies from the new HTML5 standard, such as scalable vector graphics, that optimize workloads at both server and client sides and ensure future scalability. Thus, data management and representation are entirely carried out by the browser, without the need of any Java Applet, Flash or other plug-in technology installation. Relevant biological data on genes, transcripts, exons, regulatory features, single-nucleotide polymorphisms, karyotype and so forth, are imported from web services and are available as tracks. In addition, several DAS servers are already included in Genome Maps. As a novelty, this web-based genome browser allows the local upload of huge genomic data files (e.g. VCF or BAM) that can be dynamically visualized in real time at the client side, thus facilitating the management of medical data affected by privacy restrictions. Finally, Genome Maps can easily be integrated in any web application by including only a few lines of code. Genome Maps is an open source collaborative initiative available in the GitHub repository (https://github.com/compbio-bigdata-viz/genome-maps). Genome Maps is available at: http://www.genomemaps.org.

Chemical Addressability of Ultraviolet-Inactivated Viral Nanoparticles (VNPs)

Science.gov (United States)

Rae, Chris; Koudelka, Kristopher J.; Destito, Giuseppe; Estrada, Mayra N.; Gonzalez, Maria J.; Manchester, Marianne

2008-01-01

Background Cowpea Mosaic Virus (CPMV) is increasingly being used as a nanoparticle platform for multivalent display of molecules via chemical bioconjugation to the capsid surface. A growing variety of applications have employed the CPMV multivalent display technology including nanoblock chemistry, in vivo imaging, and materials science. CPMV nanoparticles can be inexpensively produced from experimentally infected cowpea plants at high yields and are extremely stable. Although CPMV has not been shown to replicate in mammalian cells, uptake in mammalian cells does occur in vitro and in vivo. Thus, inactivation of the virus RNA genome is important for biosafety considerations, however the surface characteristics and chemical reactivity of the particles must be maintained in order to preserve chemical and structural functionality. Methodology/Principal Findings Short wave (254 nm) UV irradiation was used to crosslink the RNA genome within intact particles. Lower doses of UV previously reported to inactivate CPMV infectivity inhibited symptoms on inoculated leaves but did not prohibit systemic virus spread in plants, whereas higher doses caused aggregation of the particles and an increase in chemical reactivity further indicating broken particles. Intermediate doses of 2.0–2.5 J/cm2 were shown to maintain particle structure and chemical reactivity, and cellular binding properties were similar to CPMV-WT. Conclusions These studies demonstrate that it is possible to inactivate CPMV infectivity while maintaining particle structure and function, thus paving the way for further development of CPMV nanoparticles for in vivo applications. PMID:18830402

Chemical addressability of ultraviolet-inactivated viral nanoparticles (VNPs.

Directory of Open Access Journals (Sweden)

Chris Rae

2008-10-01

Full Text Available Cowpea Mosaic Virus (CPMV is increasingly being used as a nanoparticle platform for multivalent display of molecules via chemical bioconjugation to the capsid surface. A growing variety of applications have employed the CPMV multivalent display technology including nanoblock chemistry, in vivo imaging, and materials science. CPMV nanoparticles can be inexpensively produced from experimentally infected cowpea plants at high yields and are extremely stable. Although CPMV has not been shown to replicate in mammalian cells, uptake in mammalian cells does occur in vitro and in vivo. Thus, inactivation of the virus RNA genome is important for biosafety considerations, however the surface characteristics and chemical reactivity of the particles must be maintained in order to preserve chemical and structural functionality.Short wave (254 nm UV irradiation was used to crosslink the RNA genome within intact particles. Lower doses of UV previously reported to inactivate CPMV infectivity inhibited symptoms on inoculated leaves but did not prohibit systemic virus spread in plants, whereas higher doses caused aggregation of the particles and an increase in chemical reactivity further indicating broken particles. Intermediate doses of 2.0-2.5 J/cm(2 were shown to maintain particle structure and chemical reactivity, and cellular binding properties were similar to CPMV-WT.These studies demonstrate that it is possible to inactivate CPMV infectivity while maintaining particle structure and function, thus paving the way for further development of CPMV nanoparticles for in vivo applications.