WorldWideScience

Sample records for genetic services

  1. Community Genetic Services in Iran

    Directory of Open Access Journals (Sweden)

    Shirin Atri Barzanjeh

    2012-01-01

    Full Text Available The aim of the study was to report a description of the primary, secondary, and tertiary level services available for genetic disorders in Iran. For the purpose of this study, essential data were collected from every facility providing community genetic services in Tabriz city of Iran using a prestructured checklist. Technical information was filled in the predesigned forms using diagnostic records of each client/patient. Information was also gathered from community genetic services clients through a face-to-face interview at these facilities to assess the quality of services provided. Primary prevention measures were available in 80 percent of centres in the study population. Diagnostic techniques were fully available in the study area both in public and private sectors. Screening of congenital hypothyroidism and thalassemia has been successfully performed across the country by the Ministry of Health. Other screening programs have also been initiated by the country health authorities for neural tube defects, Down syndrome, and phenylketonuria. The high cost of genetic services at secondary and tertiary levels does not allow many people to get access to these services despite their needs. Governments will therefore need to allocate necessary resources to make the essential genetic services available for everyone needing these in the community.

  2. International Directory of Genetic Services. Second Edition.

    Science.gov (United States)

    Lynch, Henry T., Comp.

    The directory lists medical genetic units in the United States and elsewhere in the world. The director and address of each unit are specified; types of genetic services available are indicated by code. (JD)

  3. Genetic counseling services and development of training programs in Malaysia.

    Science.gov (United States)

    Lee, Juliana Mei-Har; Thong, Meow-Keong

    2013-12-01

    Genetic counseling service is urgently required in developing countries. In Malaysia, the first medical genetic service was introduced in 1994 at one of the main teaching hospitals in Kuala Lumpur. Two decades later, the medical genetic services have improved with the availability of genetic counseling, genetic testing and diagnosis, for both paediatric conditions and adult-onset inherited conditions, at four main centers of medical genetic services in Malaysia. Prenatal diagnosis services and assisted reproductive technologies are available at tertiary centres and private medical facilities. Positive developments include governmental recognition of Clinical Genetics as a subspecialty, increased funding for genetics services, development of medical ethics guidelines, and establishment of support groups. However, the country lacked qualified genetic counselors. Proposals were presented to policy-makers to develop genetic counseling courses. Challenges encountered included limited resources and public awareness, ethical dilemmas such as religious and social issues and inadequate genetic health professionals especially genetic counselors.

  4. Genetic screening services provided in Turkey.

    Science.gov (United States)

    Erdem, Yurdagül; Tekşen, Fulya

    2013-12-01

    In Turkey, the rate of consanguineous marriage is quite high (22-24 %) and as a result, the incidence of autosomal recessive diseases and congenital anomalies is also very high and gives rise to a serious public health problem. In the last three decades, great effort has been made to avoid increases in the prevalence of these hereditary diseases. For this purpose, population-based premarital, prenatal, neonatal and adult genetic screening programs are performed in various centers such as Community Health Centers, Early Diagnosis of Cancer and Education Centers (KETEM), Prenatal and Neonatal Departments of Universities and State Hospitals and Thalessemia Screening Centers. Such centers are staffed by health professionals including physicians, family physicians, nurses, midwives, biologists and medical geneticists. Genetic counseling is also provided to patients attending these centers after screening tests are performed. Since there are no specialized training programs for genetic counselors, genetic counseling is generally provided by doctors or medical geneticists. The aim of this paper is to give an overview of the genetic screening services provided in Turkey, the prevalence of genetic diseases and the design of intensive educational programs for health professionals.

  5. Outcomes of genetics services: creating an inclusive definition and outcomes menu for public health and clinical genetics services.

    Science.gov (United States)

    Silvey, Kerry; Stock, Jacquie; Hasegawa, Lianne E; Au, Sylvia Mann

    2009-08-15

    Third party payers, funding agencies, and lawmakers often require clinicians and public health agencies to justify programs and services by documenting results. This article describes two assessment tools--"Defining Genetics Services Framework" and "Genetics Services Outcomes Menu," created to assist public health professionals, clinicians, family advocates, and researchers to plan, evaluate, and demonstrate the effectiveness of genetics services. The tools were developed by a work group of the Western States Genetics Services Collaborative (WSGSC) consisting of public health genetics and newborn screening professionals, family representatives, a medical geneticist, and genetic counselors from Alaska, California, Hawaii, Idaho, Oregon, and Washington. The work group created both tools by an iterative process of combining their ideas with findings from a literature and World Wide Web review. The Defining Genetics Services Framework reflects the diversity of work group members. Three over-lapping areas of genetics services from public health core functions to population screening to clinical genetics services are depicted. The Genetics Services Outcomes Menu lists sample long-term outcomes of genetics services. Menu outcomes are classified under impact areas of Knowledge and Information; Financing; Screening and Identification; Diagnosis, Treatment, and Management; and Population Health. The WSGSC incorporated aspects of both tools into their Regional Genetics Plan. 2009 Wiley-Liss, Inc.

  6. Provision of genetic services in Europe: current practices and issues.

    Science.gov (United States)

    Godard, Béatrice; Kääriäinen, Helena; Kristoffersson, Ulf; Tranebjaerg, Lisbeth; Coviello, Domenico; Aymé, Ségolène

    2003-12-01

    This paper examines the professional and scientific views on the social, ethical and legal issues that impact on the provision of genetic services in Europe. Many aspects have been considered, such as the definition and the aims of genetic services, their organization, the quality assessment, public education, as well as the partnership with patients support groups and the multicultural aspects. The methods was primarily the analysis of professional guidelines, legal frameworks and other documents related to the organization of genetic services, mainly from Europe, but also from USA and international organizations. Then, the method was to examine the background data emerging from an updated report produced by the Concerted Action on Genetic Services in Europe, as well as the issues debated by 43 experts from 17 European countries invited to an international workshop organized by the European Society of Human Genetics Public and Professional Policy Committee in Helsinki, Finland, 8 and 9 September 2000. Some conclusions were identified from the ESHG workshop to arrive at outlines for optimal genetic services. Participants were concerned about equal accessibility and effectiveness of clinical genetic services, quality assessment of services, professional education, multidisciplinarity and division of tasks as well as networking. Within European countries, adherence to the organizational principles of prioritization, regionalization and integration into related health services would maximize equal accessibility and effectiveness of genetic actions. There is a need for harmonization of the rules involved in financial coverage of DNA tests in order to make these available to all Europeans. Clear guidelines for the best practice will ensure that the provision of genetic services develops in a way that is beneficial to its customers, be they health professionals or the public, especially since the coordination of clinical, laboratory and research perspectives within a

  7. Identifying mental health services in clinical genetic settings.

    Science.gov (United States)

    Cappelli, M; Esplen, M J; Wilson, B J; Dorval, M; Bottorff, J L; Ly, M; Carroll, J C; Allanson, J; Humphreys, E; Rayson, D

    2009-10-01

    The purpose of this study was to examine the mental health needs of individuals at risk for adult onset hereditary disorder (AOHD) from the perspective of their genetic service providers, as it is unknown to what extent psychosocial services are required and being met. A mail-out survey was sent to 281 providers on the membership lists of the Canadian Association of Genetic Counsellors and the Canadian College of Medical Geneticists. The survey assessed psychosocial issues that were most commonly observed by geneticists, genetic counsellors (GCs), and nurses as well as availability and types of psychosocial services offered. Of the 129 respondents, half of genetic service providers reported observing signs of depression and anxiety, while 44% noted patients' concerns regarding relationships with family and friends. In terms of providing counselling to patients, as the level of psychological risk increased, confidence in dealing with these issues decreased. In addition, significantly more GCs reported that further training in psychosocial issues would be most beneficial to them if resources were available. As a feature of patient care, it is recommended that gene-based predictive testing include an integrative model of psychosocial services as well as training for genetic service providers in specific areas of AOHD mental health.

  8. A micro costing of NHS cancer genetic services

    Science.gov (United States)

    Griffith, G L; Tudor-Edwards, R; Gray, J; Butler, R; Wilkinson, C; Turner, J; France, B; Bennett, P

    2004-01-01

    This paper presents the first full micro costing of a commonly used cancer genetic counselling and testing protocol used in the UK. Costs were estimated for the Cardiff clinic of the Cancer Genetics Service in Wales by issuing a questionnaire to all staff, conducting an audit of clinic rooms and equipment and obtaining gross unit costs from the finance department. A total of 22 distinct event pathways were identified for patients at risk of developing breast, ovarian, breast and ovarian or colorectal cancer. The mean cost per patient were £97–£151 for patients at moderate risk, £975–£3072 for patients at high risk of developing colorectal cancer and £675–£2909 for patients at high risk of developing breast or ovarian cancer. The most expensive element of cancer genetic services was labour. Labour costs were dependent upon the amount of labour, staff grade, number of counsellors used and the proportion of staff time devoted to indirect patient contact. With the growing demand for cancer genetic services and the growing number of national and regional cancer genetic centers, there is a need for the different protocols being used to be thoroughly evaluated in terms of costs and outcomes. PMID:15583691

  9. Genetic risks and healthy choices: creating citizen-consumers of genetic services through empowerment and facilitation.

    Science.gov (United States)

    Harvey, Alison

    2010-03-01

    Genetic testing to identify susceptibility to a variety of common complex diseases is increasingly becoming available. In this article, focusing on the development of genetic susceptibility testing for diet-related disease, I examine the emergence of direct-to-the-consumer genetic testing services and the (re)configuration of healthcare provision, both within and outside the specialist genetics service, in the UK. I identify two key techniques within these practices: empowerment and facilitation. Using Foucauldian social theory, I show that empowerment and facilitation are being positioned as tools for the creation of citizen-consumers who will make appropriate dietary choices, based on the results of their genetic analysis. Through these techniques, individuals are transformed into properly entrepreneurial citizens who will, through judicious choices, act to maximise their 'vital capital' (their health) and the capital of the social body. I argue that the user of these services is not purely an economic figure, making rational choices as a consumer, but that her configuration as a citizen-consumer who avails herself of genetic information and services in a proper manner ensures that she is fit to contribute to the economic life of our present.

  10. Points to consider for prioritizing clinical genetic testing services

    DEFF Research Database (Denmark)

    Severin, Franziska; Borry, Pascal; Cornel, Martina C

    2015-01-01

    of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic......Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set...... testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit...

  11. Medical genetics services in the city of Sao Paulo, Brazil.

    Science.gov (United States)

    Brunoni, Decio

    2004-01-01

    The city of Sao Paulo is located in the center of a metropolitan area with nearly 18 million inhabitants and 300,000 births/year. The currently existing medical genetics services are unable to meet the demand, due to their insufficient physical and personnel infrastructure. Institutions and experts in medical genetics could give short training and refresher courses to health professionals to enable them to work in the public health network. The city has a reasonably well developed health care network, represented by the Single Health System (Sistema Unico de Saude - SUS) and by the Family Health Program (Programa de Saude da Familia - PSF). The financial resources for such actions originate in the budget of the managing agencies of such systems. The limitations of genetic services provided to the population of the city could be overcome in a short period of time by developing programs within the public health care network. The city has institutions, professionals and financial resources to make this project feasible. To that end, the competent authorities of the Sao Paulo State and City Secretariats of Health should take managerial responsibility for the genetic services in the city. Copyright (c) 2004 S. Karger AG, Basel.

  12. Quality of Service Routing Strategy Using Supervised Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    WANG Zhaoxia; SUN Yugeng; WANG Zhiyong; SHEN Huayu

    2007-01-01

    A supervised genetic algorithm (SGA) is proposed to solve the quality of service (QoS)routing problems in computer networks. The supervised rules of intelligent concept are introduced into genetic algorithms (GAs) to solve the constraint optimization problem. One of the main characteristics of SGA is its searching space can be limited in feasible regions rather than infeasible regions. The superiority of SGA to other GAs lies in that some supervised search rules in which the information comes from the problems are incorporated into SGA. The simulation results show that SGA improves the ability of searching an optimum solution and accelerates the convergent process up to 20 times.

  13. The U.S. Forest Service National Seed Laboratory and Fraxinus ex situ genetic conservation

    Science.gov (United States)

    Robert P. Karrfalt

    2010-01-01

    The U.S. Forest Service's National Seed Laboratory (NSL) has as part of its mission the conservation of genetic resources for the Forest Service and Forest Service cooperators through long-term seed storage. The Forest Service recognizes ash as one of four priority species for genetic conservation. The NSL is in charge of the Forest Service ash preservation plan...

  14. Provision of Genetic Services for Autism and its Impact on Spanish Families.

    Science.gov (United States)

    Codina-Solà, Marta; Pérez-Jurado, Luis A; Cuscó, Ivon; Serra-Juhé, Clara

    2017-07-05

    Although a genetic evaluation can identify the etiology in 15-30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to genetic services and perception of genetics and recurrence risk in parents of autistic children in Spain. Despite the high interest in genetics, our results show a remarkable underutilization of genetic services, with only 30% of families having visited a genetic service and 13% of patients having undergone the recommended genetic test. This poor service provision influenced recurrence risk perception and had a great impact on family planning. The National Health System should ensure their access to genetic services allowing them to take informed decisions with precise information.

  15. 76 FR 14034 - Proposed Collection; Comment Request; NCI Cancer Genetics Services Directory Web-Based...

    Science.gov (United States)

    2011-03-15

    ... HUMAN SERVICES National Institutes of Health Proposed Collection; Comment Request; NCI Cancer Genetics Services Directory Web-Based Application Form and Update Mailer Summary: In compliance with the requirement... included in the NCI Cancer Genetics Services Directory on NCI's Cancer.gov Web site. The...

  16. Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS

    National Research Council Canada - National Science Library

    Harrison, Mark; Birch, Stephen; Eden, Martin; Ramsden, Simon; Farragher, Tracey; Payne, Katherine; Hall, Georgina; Black, Graeme Cm

    2015-01-01

    ...) and survey of English regional genetic testing services were used. Age- and gender-adjusted standardised testing rates were calculated using indirect standardisation, and survey responses were transcribed verbatim and data collated and summarised...

  17. Direct-to-consumer sales of genetic services on the Internet.

    Science.gov (United States)

    Gollust, Sarah E; Wilfond, Benjamin S; Hull, Sara Chandros

    2003-01-01

    PURPOSE The increasing use of the Internet to obtain genetics information and to order medical services without a prescription, combined with a rise in direct-to-consumer marketing for genetic testing, suggests the potential for the Internet to be used to sell genetic services. METHODS A systematic World Wide Web search was conducted in May 2002 to assess the availability of genetic services sold directly to consumers on the Internet. RESULTS Out of 105 sites that offered genetic services directly, most offered non-health-related services, including parentage confirmation testing (83%), identity testing (56%), and DNA banking (24%); however, health-related genetic tests were offered through 14 sites (13%). The health-related genetic tests available ranged from standard tests, such as hemochromatosis and cystic fibrosis, to more unconventional tests related to nutrition, behavior, and aging. Of these 14 sites, 5 described risks associated with the genetic services and 6 described the availability of counseling. CONCLUSIONS The availability of direct sales of health-related genetic tests creates the potential for inadequate pretest decision making, misunderstanding test results, and access to tests of questionable clinical value.

  18. Identifying future models for delivering genetic services: a nominal group study in primary care

    Directory of Open Access Journals (Sweden)

    Davies Peter

    2005-04-01

    Full Text Available Background To enable primary care medical practitioners to generate a range of possible service delivery models for genetic counselling services and critically assess their suitability. Methods Modified nominal group technique using in primary care professional development workshops. Results 37 general practitioners in Wales, United Kingdom too part in the nominal group process. The practitioners who attended did not believe current systems were sufficient to meet anticipated demand for genetic services. A wide range of different service models was proposed, although no single option emerged as a clear preference. No argument was put forward for genetic assessment and counselling being central to family practice, neither was there a voice for the view that the family doctor should become skilled at advising patients about predictive genetic testing and be able to counsel patients about the wider implications of genetic testing for patients and their family members, even for areas such as common cancers. Nevertheless, all the preferred models put a high priority on providing the service in the community, and often co-located in primary care, by clinicians who had developed expertise. Conclusion There is a need for a wider debate about how healthcare systems address individual concerns about genetic concerns and risk, especially given the increasing commercial marketing of genetic tests.

  19. Genetic Algorithm-Based Multi-objective Optimisation for QoS-Aware Web Services Composition

    Science.gov (United States)

    Li, Li; Yang, Pengyi; Ou, Ling; Zhang, Zili; Cheng, Peng

    Finding an optimal solution for QoS-aware Web service composition with various restrictions on qualities is a multi-objective optimisation problem. A popular multi-objective genetic algorithm, NSGA-II, is studied in order to provide a set of optimal solutions for QoS-based service composition. Experiments with different numbers of abstract and concrete services confirm the expected behaviour of the algorithm.

  20. A family genetic risk communication framework: guiding tool development in genetics health services.

    Science.gov (United States)

    Wiens, Miriam E; Wilson, Brenda J; Honeywell, Christina; Etchegary, Holly

    2013-04-01

    Family communication of genetic risk information is a complex process. Currently, there are no evidence-based interventions to help genetics professionals facilitate the process of disclosure within families. This study was designed to create a framework to assist in the development of tools to support patients in communicating genetic risk information to family members. A systematic review identified the factors relevant in communicating genetic risk information in families. A guiding theory for the proposed framework was selected and populated with the factors identified from the review. The review identified 112 factors of relevance. The theory of planned behaviour was selected to guide framework development, organising the framework in terms of the patient's attitudes about disclosure, perceived pressure to disclose and perceived control over disclosure. Attitudes about disclosure are influenced by a desire to protect oneself or family members, and the patient's perceptions of relevance of the information for family members, responsibility to disclose, family members' rights to information and the usefulness of communicating. Perceived pressure to disclose information is shaped by genetic professionals, family members and society. Perceived control over disclosure is affected by family relationships/dynamics, personal communication skills, the ability of the patient and family to understand the information and coping skills of the patient and family member. The family genetic risk communication framework presents a concise synthesis of the evidence on family communication of genetic information; it may be useful in creating and evaluating tools to help genetic counsellors and patients with communication issues.

  1. The views of Pakistani doctors regarding genetic counseling services - is there a future?

    Science.gov (United States)

    Ashfaq, Myla; Amanullah, Farhana; Ashfaq, Ayesha; Ormond, Kelly E

    2013-12-01

    Pakistan is a densely populated country in South Asia with a high burden of genetic disease. A dearth of medical genetic services exists and master's level trained genetic counselors (GCs) are currently not a part of the healthcare system. This study is the first to determine the views of Pakistani medical doctors (MDs) towards genetic counseling services in Pakistan, including what manner a master's level genetic counselor might be incorporated into the healthcare system. Fifty-one MDs practicing in the city of Karachi completed a self-administered survey of twenty questions. Of the 49 respondents who answered a specific question, 100 % (49/49) felt that they would refer at least some, if not all, of their relevant patients to a genetic's clinic if one existed in Karachi. Overall, the respondents showed a positive attitude towards the provision of genetic counseling services as a part of the healthcare system of Pakistan. Some of the proposed roles identified specifically for GCs included: explaining how Down syndrome occurs (66.1 %), discussing genes associated with breast cancer (77.4 %), and explaining the inheritance pattern of β-thalassemia (65.5 %). In contrast, the review of medical and family history and discussion of medical procedures such as ultrasound and amniocentesis were typically seen as the role of a physician. A majority of the respondents (98 %) were in favor of premarital carrier screening for thalassemia and would refer patients to a GC to describe the importance of carrier screening (84.3 %) and to help explain carrier screening results (94.1 %). Many respondents selected GCs as the ideal provider of education and support for people with inherited conditions (43.8 %), followed by specialist MDs (26 %) and general physicians (22.9 %). Considering the high burden of genetic disease in the country, we encourage the development of genetic counseling services in Pakistan.

  2. 76 FR 28439 - Submission for OMB Review; Comment Request; NCI Cancer Genetics Services Directory Web-Based...

    Science.gov (United States)

    2011-05-17

    ... HUMAN SERVICES National Institutes of Health Submission for OMB Review; Comment Request; NCI Cancer Genetics Services Directory Web-Based Application Form and Update Mailer Summary: Under the provisions of... Collection: Title: NCI Cancer Genetics Services Directory Web-based Application Form and Update Mailer....

  3. A cost analysis of a cancer genetic service model in the UK.

    Science.gov (United States)

    Slade, Ingrid; Hanson, Helen; George, Angela; Kohut, Kelly; Strydom, Ann; Wordsworth, Sarah; Rahman, Nazneen

    2016-07-01

    Technological advances in DNA sequencing have made gene testing fast and more affordable. Evidence of effectiveness and cost-effectiveness of genetic service models is essential for the successful translation of sequencing improvements for patient benefit, but remain sparse in the genetics literature. In particular, there is a lack of detailed cost data related to genetic services. A detailed micro-costing of 28 possible pathways relating to breast and/or ovarian cancer and BRCA testing was carried out by defining service activities and establishing associated costs. These data were combined with patient-level data from a Royal Marsden Cancer Genetics Service audit over a 6-month period during which BRCA testing was offered to individuals at ≥10 % risk of having a mutation, in line with current NICE guidance. The average cost across all patient pathways was £2227.39 (range £376.51 to £13,553.10). The average cost per pathway for an affected person was £1897.75 compared to £2410.53 for an unaffected person. Of the women seen in the Cancer Genetics Service during the audit, 38 % were affected with breast and/or ovarian cancer, and 62 % were unaffected but concerned about their family history. The most efficient service strategy is to identify unaffected relatives from an affected individual with an identified BRCA mutation. Implementation of this strategy would require more comprehensive testing of all eligible cancer patients, which could be achieved by integrating BRCA testing into oncology services. Such integration would be also more time-efficient and deliver greater equity of access to BRCA testing than the standard service model.

  4. Genetic Algorithm based PID controller for Frequency Regulation Ancillary services

    Directory of Open Access Journals (Sweden)

    Sandeep Bhongade

    2010-12-01

    Full Text Available In this paper, the parameters of Proportional, Integral and Derivative (PID controller for Automatic Generation Control (AGC suitable in restructured power system is tuned according to Generic Algorithms (GAs based performance indices. The key idea of the proposed method is to use the fitness function based on Area Control Error (ACE. The functioning of the proposed Genetic Algorithm based PID (GAPID controller has been demonstrated on a 75-bus Indian power system network and the results have been compared with those obtained by using Least Square Minimization method.

  5. Alternate service delivery models in cancer genetic counseling: a mini-review

    Directory of Open Access Journals (Sweden)

    Adam Hudson Buchanan

    2016-05-01

    Full Text Available Demand for cancer genetic counseling has grown rapidly in recent years as germline genomic information has become increasingly incorporated into cancer care and the field has entered the public consciousness through high-profile celebrity publications. Increased demand and existing variability in the availability of trained cancer genetics clinicians place a priority on developing and evaluating alternate service delivery models for genetic counseling. This mini-review summarizes the state of science regarding service delivery models such as telephone counseling, telegenetics and group counseling. Research on comparative effectiveness of these models in traditional individual, in-person genetic counseling has been promising for improving access to care in a manner acceptable to patients. Yet, it has not fully evaluated the short- and long-term patient- and system-level outcomes that will help answer the question of whether these models achieve the same beneficial psychosocial and behavioral outcomes as traditional cancer genetic counseling. We propose a research agenda focused on comparative effectiveness of available service delivery models and how to match models to patients and practice settings. Only through this rigorous research can clinicians and systems find the optimal balance of clinical quality, ready and secure access to care, and financial sustainability. Such research will be integral to achieving the promise of genomic medicine in oncology.

  6. The role and impact of personal faith and religion among genetic service providers.

    Science.gov (United States)

    Geller, Gail; Micco, Ellyn; Silver, Rachel J; Kolodner, Ken; Bernhardt, Barbara A

    2009-02-15

    This paper describes the impact of genetic service providers' personal faith and religious values on their experiences interacting with colleagues and patients. We surveyed 480 clinical geneticists (MDs), genetic counselors (GCs), and genetic nurses randomly selected from their professional associations, and then interviewed a sample of survey respondents. Outcomes included religiosity, coping with distress through spiritual beliefs, and personal value conflicts (PVCs). Two hundred fourteen providers completed the survey out of an estimated 348 eligible (61% response rate). Importance attributed to regular attendance at religious services ranged from 39% (not at all important) to 27% (very important). Reliance on religion and spiritual beliefs as a source of comfort ranged from 48% (never) to 33% (sometimes or often). Religiosity varied by discipline with 58% of nurses thinking regular attendance at religious services was moderately or very important as compared to 47% of GCs and 30% of MDs (P = 0.006). Ten percent of respondents had difficulty reconciling their own faith with being a genetics professional, 14% felt the need to hide their own faith from their colleagues or patients, 7% thought their professional stance was not consistent with their personal values, and 4% felt ostracized by the genetics community because of their personal beliefs. The experience of such PVCs was positively correlated with religiosity (r = 0.35; P values to cope with distress. These individuals often experience difficulty reconciling their religious beliefs with the expectations of their profession, and sharing their beliefs with their colleagues and patients. Efforts should be made to prevent or reduce the secrecy surrounding personal faith and religion among genetics professionals.

  7. Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases.

    Science.gov (United States)

    Rigter, Tessel; Henneman, Lidewij; Broerse, Jacqueline E W; Shepherd, Maggie; Blanco, Ignacio; Kristoffersson, Ulf; Cornel, Martina C

    2014-10-01

    Genetics in health care is shifting, and responsibilities of genetic and nongenetic specialists are changing, requiring new guidance on how to adapt health care to advances in genetic services. This paper explores facilitators and barriers in the process of implementation of innovations in genetic health care. Furthermore, lessons learnt for optimizing development of new genetic services are summarized. Barriers and facilitators in transition processes were identified using mixed methods, including an online open-ended questionnaire among professionals and an international expert meeting. A multi-case study approach was used to explore recent experiences with innovations in genetic services in different phases of implementation. Barriers encountered in transitions in genetic service provision include the following: lack of genetic knowledge and skills among nongenetic health care providers, resistance to new divisions of responsibilities, and a need for more close collaboration and communication between geneticists and nongeneticists. Facilitating factors include the following: statutory registration of genetic specialists, availability of essential staff and equipment, and existence of registries and guidelines. Other challenges are experienced in the establishment of the appropriate legal and financial structures. A set of points to consider for genetic innovation processes is proposed, addressing, e.g., transition management and cooperation and communication strategies.

  8. Wide disparity of clinical genetics services and EU rare disease research funding across Europe.

    Science.gov (United States)

    Lynch, Sally Ann; Borg, Isabella

    2016-04-01

    The origins of clinical genetics services vary throughout Europe with some emerging from paediatric medicine and others from an academic laboratory setting. In 2011, the cross-border patients' rights directive recommended the creation of European Research Networks (ERNs) to improve patient care throughout EU. In 2013, the EU recommendation on the care for rare diseases came into place. The process of designating EU centres of expertise in rare diseases is being implemented to allow centres to enter ERNs. Hence, this is an opportune time to reflect on the current status of genetic services and research funding throughout Europe as 80 % of rare diseases have a genetic origin. Our aims were to determine (a) whether EU countries are prepared in terms of appropriate clinical genetic staffing to fulfil the European Union Committee of Experts on Rare Diseases (EUCERD) criteria that will allow national centres to be designated as centres of expertise, (b) which EU countries are successful in grant submissions to EU rare disease research funding and (c) country of origin of researchers from the EU presenting their research work as a spoken presentation at the European Society of Human Genetics annual conference. Our results show there is wide disparity of staffing levels per head of population in clinical genetics units throughout Europe. EU rare disease research funding is not being distributed equitably and the opportunity to present research is skewed with many countries not achieving spoken presentations despite abstract submissions. Inequity in the care of patients with rare diseases exists in Europe. Many countries will struggle to designate centres of expertise as their staffing mix and levels will not meet the EUCERD criteria which may prevent them from entering ERNs. The establishment of a small number of centres of expertise centrally, which is welcome, should not occur at the expense of an overall improvement in EU rare disease patient care. Caution should be

  9. "Bringing Taxonomy to the Service of Genetics": Edgar Anderson and Introgressive Hybridization.

    Science.gov (United States)

    Kleinman, Kim

    2016-12-01

    In introgressive hybridization (the repeated backcrossing of hybrids with parental populations), Edgar Anderson found a source for variation upon which natural selection could work. In his 1953 review article "Introgressive Hybridization," he asserted that he was "bringing taxonomy to the service of genetics" whereas distinguished colleagues such as Theodosius Dobzhansky and Ernst Mayr did the precise opposite. His work as a geneticist particularly focused on linkage and recombination and was enriched by collaborations with Missouri Botanical Garden colleagues interested in taxonomy as well as with cytologists C.D. Darlington and Karl Sax. As the culmination of a biosystemtatic research program, Anderson's views challenged the mainstream of the Evolutionary Synthesis.

  10. A service-oriented architecture for integrating the modeling and formal verification of genetic regulatory networks

    Directory of Open Access Journals (Sweden)

    Page Michel

    2009-12-01

    Full Text Available Abstract Background The study of biological networks has led to the development of increasingly large and detailed models. Computer tools are essential for the simulation of the dynamical behavior of the networks from the model. However, as the size of the models grows, it becomes infeasible to manually verify the predictions against experimental data or identify interesting features in a large number of simulation traces. Formal verification based on temporal logic and model checking provides promising methods to automate and scale the analysis of the models. However, a framework that tightly integrates modeling and simulation tools with model checkers is currently missing, on both the conceptual and the implementational level. Results We have developed a generic and modular web service, based on a service-oriented architecture, for integrating the modeling and formal verification of genetic regulatory networks. The architecture has been implemented in the context of the qualitative modeling and simulation tool GNA and the model checkers NUSMV and CADP. GNA has been extended with a verification module for the specification and checking of biological properties. The verification module also allows the display and visual inspection of the verification results. Conclusions The practical use of the proposed web service is illustrated by means of a scenario involving the analysis of a qualitative model of the carbon starvation response in E. coli. The service-oriented architecture allows modelers to define the model and proceed with the specification and formal verification of the biological properties by means of a unified graphical user interface. This guarantees a transparent access to formal verification technology for modelers of genetic regulatory networks.

  11. Measuring Awareness and Identifying Misconceptions About Genetic Counseling Services and Utilizing Television to Educate

    Science.gov (United States)

    Goldberg, Dena

    Understanding awareness and perceptions of genetic counseling (GC) is important in identifying and overcoming potential barriers to GC services. However, there are relatively few empirical data regarding these factors among US-based populations. To address this, we attended various community events for the general public, disability community, and new parents and recruited participants for a survey-based study comprising demographic questions, closed-ended knowledge-based and awareness questions, and open text sections. We applied descriptive statistics to responses about demographics, awareness of GC, purposes of GC, and perceptions of GC practice. In total, 320 individuals participated, including 69 from the general public, 209 from the disability community, and 42 from the new parent community. Slightly more than half of respondents (n =173, 54%) had heard of GC. Risk assessment and counseling were among the most frequently cited activities attributed to genetic counselors; a few felt that GC was related to eugenics. Respondents thought that GC aims to prevent genetic disorders (n=82, 74%), helps people find their ethnic origins and understand their ancestry (n=176, 55%), advises people whether to have children (n=140, 44%), and helps couples have children with desirable characteristics (n=126, 39%). Our data showed the majority of participants preferred to watch a medical thriller involving genetic counseling, followed by documentary series; comedy was rated the lowest. These data revealed gaps in awareness of GC and misperceptions about its purpose and can be useful in devising targeted interventions by developing entertainment-based education to improve public knowledge of genetic health and the roles of GCs.

  12. Genetics

    Science.gov (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  13. Concrete Mix Design for Service Life of RC Structures under Carbonation Using Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Seung-Jun Kwon

    2014-01-01

    Full Text Available Steel corrosion in reinforced concrete (RC structure is such a critical problem to structural safety that many researches have been performed for maintaining required performance during intended service life. This paper is for a numerical technique for obtaining optimum concrete mix proportions through genetic algorithm (GA for RC structures under carbonation which is considered as a serious deterioration in underground sites and big cities. For this study, mix proportions and CO2 diffusion coefficients are analyzed through the previous studies, and then the fitness function of CO2 diffusion coefficient is derived through regression analysis. The fitness function from 69 test results includes 5 variables of mix proportions such as w/c (water to cement ratio, cement content, sand content percentage, coarse aggregate content, and R.H. (relative humidity. Through GA technique, simulated mix proportions are obtained for 12 cases of verification and they show reasonable results with average relative error of 4.6%. Assuming intended service life and design parameters, intended CO2 diffusion coefficients and cement contents are determined and then related mix proportions are simulated. The proposed technique can provide initial concrete mix proportions which satisfy service life under carbonation.

  14. Service restoration in distribution system using non-dominated sorting genetic algorithm

    Energy Technology Data Exchange (ETDEWEB)

    Kumar, Yogendra; Das, Biswarup; Sharma, Jaydev [Department of Electrical Engineering, Indian Institute of Technology, Roorkee 247667 (India)

    2006-06-15

    In this paper, a non-dominated sorting genetic algorithm-II (NSGA-II) based approach is presented for service restoration in power distribution systems. In contrast to the conventional GA based methods, the proposed approach does not require weighting factors required for conversion of multi-objective function into an equivalent single objective function. Based on the simulation studies carried out in four different systems, the performance of the proposed scheme has been found to be better than the performance of conventional GA technique based approaches. Moreover, by including the string representing the pre-fault configuration of the distribution system in the initial population, the speed of convergence is enhanced significantly. (author)

  15. Barriers and Facilitators for Utilization of Genetic Counseling and Risk Assessment Services in Young Female Breast Cancer Survivors

    Directory of Open Access Journals (Sweden)

    Beth Anderson

    2012-01-01

    Full Text Available Introduction. Women diagnosed with breast cancer at a young age are more likely to carry a cancer predisposing genetic mutation. Per the current NCCN recommendations, women diagnosed under age 50 should be referred to cancer genetic counseling for further risk evaluation. This study seeks to assess patient-reported barriers and facilitators to receiving genetic counseling and risk assessment among a community-based population of young breast cancer survivors (YBCS. Methods. Through the Michigan Cancer Surveillance Program, a state-based cancer registry, 488 women diagnosed with breast cancer before age 50 in 2006-2007 were identified. They received a mail survey regarding family history and facilitators and barriers to receiving genetic counseling and risk assessment. Results. Responses were received from 289 women (59.2%. One hundred twenty-two (42.2% reported having received cancer genetic counseling. The most frequent reason identified for receiving services was to benefit their family's future. The top reasons for not attending were “no one recommended it” and “medical insurance coverage issues.” Discussion. This study is the first published report using a state cancer registry to determine facilitators and barriers to receiving genetic counseling and risk assessment among YBCS. These findings demonstrate the need for additional awareness and education about appropriate indications for genetic services.

  16. Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.

    Science.gov (United States)

    Filocamo, Mirella; Baldo, Chiara; Goldwurm, Stefano; Renieri, Alessandra; Angelini, Corrado; Moggio, Maurizio; Mora, Marina; Merla, Giuseppe; Politano, Luisa; Garavaglia, Barbara; Casareto, Lorena; Bricarelli, Francesca Dagna

    2013-08-30

    Several examples have always illustrated how access to large numbers of biospecimens and associated data plays a pivotal role in the identification of disease genes and the development of pharmaceuticals. Hence, allowing researchers to access to significant numbers of quality samples and data, genetic biobanks are a powerful tool in basic, translational and clinical research into rare diseases. Recently demand for well-annotated and properly-preserved specimens is growing at a high rate, and is expected to grow for years to come. The best effective solution to this issue is to enhance the potentialities of well-managed biobanks by building a network.Here we report a 5-year experience of the Telethon Network of Genetic Biobanks (TNGB), a non-profit association of Italian repositories created in 2008 to form a virtually unique catalogue of biospecimens and associated data, which presently lists more than 750 rare genetic defects. The process of TNGB harmonisation has been mainly achieved through the adoption of a unique, centrally coordinated, IT infrastructure, which has enabled (i) standardisation of all the TNGB procedures and activities; (ii) creation of an updated TNGB online catalogue, based on minimal data set and controlled terminologies; (iii) sample access policy managed via a shared request control panel at web portal. TNGB has been engaged in disseminating information on its services into both scientific/biomedical - national and international - contexts, as well as associations of patients and families. Indeed, during the last 5-years national and international scientists extensively used the TNGB with different purposes resulting in more than 250 scientific publications. In addition, since its inception the TNGB is an associated member of the Biobanking and Biomolecular Resources Research Infrastructure and recently joined the EuroBioBank network. Moreover, the involvement of patients and families, leading to the formalization of various agreements

  17. Factors which impact the delivery of genetic risk assessment services focused on inherited cancer genomics: expanding the role and reach of certified genetics professionals.

    Science.gov (United States)

    Radford, Cristi; Prince, Anya; Lewis, Karen; Pal, Tuya

    2014-08-01

    There is tremendous excitement about the promise of new genomic technologies to transform medical practice and improve patient care. Although the full power of genetic diagnosis has not yet been realized, paradigms of clinical decision-making are changing. In fact, recent policy level changes to promote genetic counseling by certified genetics professionals (GP) such as genetic counselors and clinical geneticists, are occurring at both the payer and state level. However, there remain opportunities to develop policies within the United States to: 1) enhance the access to the limited workforce of GPs; 2) revise reimbursement schemes such that costs to deliver these services may be recouped by institutions with GPs; and 3) protect against the potential for discrimination based on genetic information. Although many of these issues predate advances in genomic technologies, they are exacerbated by them, with increasing access and awareness as costs of testing decrease. Consequently, evolving shifts in national policies poise GPs to serve as a hub of information and may be instrumental in facilitating new models to deliver genetics-based care through promoting academic-community partnerships and interfacing with non-GPs. As we acknowledge the potential for genomics to revolutionize medical practice, the expertise of GPs may be leveraged to facilitate incorporation of this information into mainstream medicine.

  18. Using Critical Literacy to Explore Genetics and Its Ethical, Legal, and Social Issues with In-Service Secondary Teachers

    Science.gov (United States)

    Gleason, Michael L.; Melancon, Megan E.; Kleine, Karynne L. M.

    2010-01-01

    The described interdisciplinary course helped a mixed population of in-service secondary English and biology teacher-participants increase their genetics content knowledge and awareness of Ethical, Legal, and Social Implications (ELSI) that arose from discoveries and practices associated with the Human Genome Project. This was accomplished by…

  19. A hybrid discrete particle swarm optimization-genetic algorithm for multi-task scheduling problem in service oriented manufacturing systems

    Institute of Scientific and Technical Information of China (English)

    武善玉; 张平; 李方; 古锋; 潘毅

    2016-01-01

    To cope with the task scheduling problem under multi-task and transportation consideration in large-scale service oriented manufacturing systems (SOMS), a service allocation optimization mathematical model was established, and then a hybrid discrete particle swarm optimization-genetic algorithm (HDPSOGA) was proposed. In SOMS, each resource involved in the whole life cycle of a product, whether it is provided by a piece of software or a hardware device, is encapsulated into a service. So, the transportation during production of a task should be taken into account because the hard-services selected are possibly provided by various providers in different areas. In the service allocation optimization mathematical model, multi-task and transportation were considered simultaneously. In the proposed HDPSOGA algorithm, integer coding method was applied to establish the mapping between the particle location matrix and the service allocation scheme. The position updating process was performed according to the cognition part, the social part, and the previous velocity and position while introducing the crossover and mutation idea of genetic algorithm to fit the discrete space. Finally, related simulation experiments were carried out to compare with other two previous algorithms. The results indicate the effectiveness and efficiency of the proposed hybrid algorithm.

  20. Genetic analysis of age at first service, return rate, litter size, and weaning-to-first service interval of gilts and sows.

    Science.gov (United States)

    Holm, B; Bakken, M; Vangen, O; Rekaya, R

    2005-01-01

    The aim of this study was to estimate genetic parameters of seven traits related to sow reproductive performance. Data on all Norwegian Landrace pigs (NL) born in nucleus herds and raised in nucleus or multiplying herds from 1990 to 2000 were extracted from the Norwegian national recording scheme. Reproductive traits investigated were age at first service (AFS), return rate in gilts (RRg), age at first farrowing (AFF), live-born piglets in the first litter (NBA1), interval from weaning to first service after first litter (WTS1), return rate after first litter (RR1), live-born piglets in the second litter (NBA2), and interval from weaning to first service after second litter (WTS2). After editing, the data set comprised 12,583 to 56,042 records, depending on the trait. A mixed linear and a joint linear threshold animal model were used to estimate (co)variance components. A full Bayesian approach via Gibbs sampling was adopted. The statistical model used for analysis included contemporary groups of herd-year (-season), purebred or crossbred litter, single or double insemination, mating type, parity in which the animal was born, a regression on lactation length, and an additive genetic effect. Neither the estimated heritabilities nor the genetic correlations differed much between the two approaches, but there was a tendency for higher genetic correlations using the joint linear threshold model approach. Average heritabilities were as follows: AFS = 0.31; RRg = 0.03; RR1 = 0.02; NBA1 = 0.12; NBA2 = 0.14; WTS1 = 0.08; and WTS2 = 0.03. The highest genetic correlations were estimated between NBA1 and NBA2 (r(g) = 0.95), RR1 and WTS1 (r(g) = 0.93), and between WTS1 and WTS2 (r(g) = 0.78). The estimated genetic correlation between NBA and WTS were close to zero. Selection for increased NBA will slightly increase AFS and reduce the probability of a return. Selection for decreased AFS will have a favorable effect on WTS intervals; however, selection for decreased AFS seems to

  1. 基于RESTFUL服务的分布式遗传算法%Distributed Genetic Algorithm Based on RESTFUL Service

    Institute of Scientific and Technical Information of China (English)

    马青霞; 孙梅

    2011-01-01

    Based on analyzing the features of REST and RESTFUL service, the concept of designing service-oriented computing for Genetic Algorithm(GA) in REST style is presented, which realizes distributed genetic evolving with two sorts independent service processes that call each other by verb PUT and POX encoding format. An intelligent test paper system taking advantage of distributed paralleling genetic algorithm running RESTFUL service is developed by Window Communication Foundation(WCF). Experimental results show that the algorithm is proved to have high operational efficiency.%根据REST及RESTFUL服务特点,构建一种基于REST的遗传算法.设计服务计算系统,采用主子2种独立的服务实现分布式遗传进化,利用PUT谓词及POX数据格式进行服务互调,以实现RESTFUL服务下的遗传组卷算法.实验结果表明,该算法具有较高的运行效率.

  2. Application of genetic algorithms to service restoration in distribution system. Fuka yuzu mondai eno identeki algorithm no tekiyo

    Energy Technology Data Exchange (ETDEWEB)

    Fukuyama, Y.; Ueki, Y. (Fuji Electric Co. R and D Ltd., Tokyo (Japan))

    1994-04-10

    This paper describes genetic algorithms to decision on power supply feeders for each load in service restoration in a distribution system. Service restoration is a power supply distribution operation that calls for a system switching operation for retransmission when a non-service restoration section has occurred due to feeder failures. The operation determines the on-off condition of switches and decides the power supply feeders. The power supply feeder decision formulates as an objective function that minimization of the total sum of the load amount in load nodes that may cause a power failure under such conditions as radiation-formed loads, power supply capacity restriction, and transport pass restriction, and averaging of the reserve supply power. The genetic algorithm that derives the optimal solution thereof has the advantage that it does not use the gradient of the evaluation function and increase the calculation speed by means of parallel processing. The formulation by means of the genetic algorithm uses a string expression method, which reduces the string length and decaying strings. The method derives solutions by evaluating the set strings and repeating such processes as the crossing (partial replacement of service restoration conditions), the modified operator (modifies the strings to meet the restrictions) and sudden change (change in power supply direction in one load). 19 refs., 12 figs.

  3. Analysis of the Optimal Customization Degree of Different Service Industries by Integrating the Neural Network and the Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Shen-Tsu Wang

    2013-07-01

    Full Text Available Customers have different emotions towards service industries of different natures, leading to inconsistent service quality characteristic items and levels of demands. Different emotions would affect customer perceptions of the customization degree of a hospital (the emotion is relatively sad and a theme park (the emotion is relatively joyful; while different service quality characteristic-related contents of the budget-limited DOH (Department of Health hospitals and theme parks also affect the customization degree. Therefore, this study established the PZB (Parasuraman, Zeithaml and Berry service quality characteristic scale for different DOH hospitals and theme parks, conducted a questionnaire survey (qualitative and integrated the neural network and genetic algorithm in order to analyze the service quality gap item rankings of different services. Next, this study incorporated the quantitative contents of the top five service quality gap items into a quantitative customized mathematical model. The model considers the occurrence of demand in unit time as a Poisson distribution, the demand in normal distribution and the uncertain parameter subject to the effect of the boom countermeasure signals. This study then established and verified the correct method for a customization degree profit model. Decision-makers can determine improvement items according to the optimal customization degree. The research findings can serve as the basis for DOH hospital and theme park operational improvements. In addition, this study analyzed the managerial implications of the research findings in different service industries.

  4. Design and implementation of a library-based information service in molecular biology and genetics at the University of Pittsburgh

    Science.gov (United States)

    Chattopadhyay, Ansuman; Tannery, Nancy Hrinya; Silverman, Deborah A. L.; Bergen, Phillip; Epstein, Barbara A.

    2006-01-01

    Setting: In summer 2002, the Health Sciences Library System (HSLS) at the University of Pittsburgh initiated an information service in molecular biology and genetics to assist researchers with identifying and utilizing bioinformatics tools. Program Components: This novel information service comprises hands-on training workshops and consultation on the use of bioinformatics tools. The HSLS also provides an electronic portal and networked access to public and commercial molecular biology databases and software packages. Evaluation Mechanisms: Researcher feedback gathered during the first three years of workshops and individual consultation indicate that the information service is meeting user needs. Next Steps/Future Directions: The service's workshop offerings will expand to include emerging bioinformatics topics. A frequently asked questions database is also being developed to reuse advice on complex bioinformatics questions. PMID:16888665

  5. Parallelization and optimization of genetic analyses in isolation by distance web service

    Directory of Open Access Journals (Sweden)

    Otto James S

    2009-06-01

    Full Text Available Abstract Background The Isolation by Distance Web Service (IBDWS is a user-friendly web interface for analyzing patterns of isolation by distance in population genetic data. IBDWS enables researchers to perform a variety of statistical tests such as Mantel tests and reduced major axis regression (RMA, and returns vector based graphs. The more than 60 citations since 2005 confirm the popularity and utility of this website. Despite its usefulness, the data sets with over 65 populations can take hours or days to complete due to the computational intensity of the statistical tests. This is especially troublesome for web-based software analysis, since users tend to expect real-time results on the order of seconds, or at most, minutes. Moreover, as genetic data continue to increase and diversify, so does the demand for more processing power. In order to increase the speed and efficiency of IBDWS, we first determined which aspects of the code were most time consuming and whether they might be amenable to improvements by parallelization or algorithmic optimization. Results Runtime tests uncovered two areas of IBDWS that consumed significant amounts of time: randomizations within the Mantel test and the RMA calculations. We found that these sections of code could be restructured and parallelized to improve efficiency. The code was first optimized by combining two similar randomization routines, implementing a Fisher-Yates shuffling algorithm, and then parallelizing those routines. Tests of the parallelization and Fisher-Yates algorithmic improvements were performed on a variety of data sets ranging from 10 to 150 populations. All tested algorithms showed runtime reductions and a very close fit to the predicted speedups based on time-complexity calculations. In the case of 150 populations with 10,000 randomizations, data were analyzed 23 times faster. Conclusion Since the implementation of the new algorithms in late 2007, datasets have continued to

  6. 'The edge effect': an exploratory study of some factors affecting referrals to cancer genetic services in rural Wales.

    Science.gov (United States)

    Iredale, Rachel; Jones, Lesley; Gray, Jonathon; Deaville, Jenny

    2005-09-01

    This exploratory study examines the role of rurality in referrals from primary care to the Cancer Genetics Service for Wales (CGSW) through a case study of referrals from Montgomeryshire, a predominantly rural area in mid-Wales located adjacent to the English border. Awareness of CGSW amongst practitioners is low. We found that rurality plays a role in referral behaviour as distance, time travelling and accessibility by car and public transport are all perceived to have an impact on the patient's decision to attend a clinic appointment. Some patients are being referred outside Wales as ease of access to services is considered more important than distance.

  7. Use of genetic algorithms to improve the solid waste collection service in an urban area.

    Science.gov (United States)

    Buenrostro-Delgado, Otoniel; Ortega-Rodriguez, Juan Manuel; Clemitshaw, Kevin C; González-Razo, Carlos; Hernández-Paniagua, Iván Y

    2015-07-01

    Increasing generation of Urban Solid Waste (USW) has become a significant issue in developing countries due to unprecedented population growth and high rates of urbanisation. This issue has exceeded current plans and programs of local governments to manage and dispose of USW. In this study, a Genetic Algorithm for Rule-set Production (GARP) integrated into a Geographic Information System (GIS) was used to find areas with socio-economic conditions that are representative of the generation of USW constituents in such areas. Socio-economic data of selected variables categorised by Basic Geostatistical Areas (BGAs) were taken from the 2000 National Population Census (NPC). USW and additional socio-economic data were collected during two survey campaigns in 1998 and 2004. Areas for sampling of USW were stratified into lower, middle and upper economic strata according to income. Data on USW constituents were analysed using descriptive statistics and Multivariate Analysis. ARC View 3.2 was used to convert the USW data and socio-economic variables to spatial data. Desk-top GARP software was run to generate a spatial model to identify areas with similar socio-economic conditions to those sampled. Results showed that socio-economic variables such as monthly income and education are positively correlated with waste constituents generated. The GARP used in this study revealed BGAs with similar socio-economic conditions to those sampled, where a similar composition of waste constituents generated is expected. Our results may be useful to decrease USW management costs by improving the collection services. Copyright © 2015 Elsevier Ltd. All rights reserved.

  8. 一种支持广义服务组合的遗传算法%A Genetic Algorithm for Generalized Real-Life Service Composition

    Institute of Scientific and Technical Information of China (English)

    王显志; 王忠杰; 徐晓飞; 莫同

    2009-01-01

    In the last decade,selection and composition of Web services have drawn increasing attentions.However,real-life services are not only web services but complicated eco-systems composed of various service elements like human,resources,environment,ete,and existing service composition methods cannot be directly applied to such real-life service composition scenarios.In this paper,we propose a conceptual model for generalized real-life service composition.In this model,service behaviors are abstracted as service components and uniformly described by XML.Various service requirements raised by customers are completely listed and classified.Based on these works,a genetic algorithm for real-life service composition is presented to select the best matching service components and compose them together.The algorithm's effectiveness of obtaining optimal solution is proved by a prototype system.

  9. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  10. Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools.

    Science.gov (United States)

    Paneque, M; Mendes, Á; Guimarães, L; Sequeiros, J; Skirton, H

    2015-08-01

    Quality assessment of genetic counseling practice for improving healthcare is a challenge for genetic services worldwide; however, there is scarce literature regarding quality issues in genetic counseling in the context of presymptomatic testing for late-onset neurological diseases (Paneque et al. 2012) The aims of this qualitative study were to: (1) explore the views of professionals' who provide genetic counseling services for presymptomatic testing for late-onset neurological diseases regarding relevant quality indicators for counseling practice; and (2) examine current assessment of such counseling practice for Portuguese genetic services. Quality indicators are a means of measuring either the process or outcomes of patient services, with the aim of evaluating and improving quality of care (Mainz 2003). In this study, we defined quality indicators as measurable outcomes of the counseling process that may reflect good professional practice and desirable end-term effects. We undertook interviews with 18 genetic health professionals (85 % of all genetic counseling professionals involved) from the major genetic services in Portugal. Results indicate that professionals valued some core components of genetic counseling, including providing information and decision-making support, informing the consultand about the genetic counseling protocol, as well as exploring motivations, expectations for test results, consequent anticipated life changes, psychosocial adjustment, and personal and familial experience with the disease. Professionals were not, however, able to clearly elucidate quality indicators for effective practice and some reported they had not reflected on that topic before. Professionals also reported specific challenges in their practice, such as ambiguity of the health/illness status and affirming consultands' autonomy. Results of the study have revealed a lack of knowledge about quality indicators and tools to assess counseling practice. A credible set of

  11. Barriers and Motivators for Referral of Patients with Suspected Lynch Syndrome to Cancer Genetic Services: A Qualitative Study

    Directory of Open Access Journals (Sweden)

    Yen Y. Tan

    2014-02-01

    Full Text Available This article explores the views of general practitioners and specialists on their referral of patients with suspected Lynch syndrome to cancer genetic services. Using a purposive maximum variation sampling strategy, we conducted semi-structured interviews face-to-face with 28 general practitioners and specialists in public or private hospitals and specialist clinics between March and August 2011. General practitioners and specialists were recruited in a major metropolitan area in Australia. Interview transcripts were reviewed by two independent researchers, and thematic analysis was performed using NVivo10 software. The main barriers and motivators identified were: (1 clinician-related (e.g., familiarity with Lynch syndrome and family history knowledge; (2 patient-related (e.g., patients’ interests and personal experience with cancer; and (3 organizational-related (e.g., access to services, guidelines and referral pathway. Referral of patients with suspected Lynch syndrome to cancer genetic services is motivated and hindered by a range of individual, interpersonal and organizational factors. In order to improve the care and quality of life of patients and family with suspected Lynch syndrome, further research is needed to develop supportive tools for clinicians.

  12. Genetic diversity of wild service tree (Sorbus torminalis (L. Crantz population from the Forest District Krzyż

    Directory of Open Access Journals (Sweden)

    Leszek Bednorz

    2013-09-01

    Full Text Available The paper presents the results of the study on genetic diversity of wild service tree population from the Forest District Krzyż, in a context of its use in the programme of conservation and restitution of Sorbus torminalis in the territory of the Regional Directorate of the State Forests in Piła in 2010-2013. Twenty S. torminalis trees growing in the Forestry Dębina were sampled (dormant buds and investigated by utilizing isozyme markers; five loci (MDH-B, ME-A, 6PGD-B, ADH-B, PGM-A proved to be polymorphic and only one (PGM-B was monomorphic. The level of diversity and the genetic structure of the investigated population of S. torminalis justified an appropriateness of its including into the programme ex situ as the source of reproduction material.

  13. A Genetic Algorithm to Find the Adequate Granularity for Service Interfaces

    NARCIS (Netherlands)

    Romano, D.; Pinzger, M.

    2014-01-01

    The relevance of the service interfaces’ granularity and its architectural impact have been widely investigated in literature. Existing studies show that the granularity of a service interface, in terms of exposed operations, should reflect their clients’ usage. This idea has been formalized in the

  14. An Evaluation of the NSGA-II and MOCell Genetic Algorithms for Self-management Planning in a Pervasive Service Middleware

    DEFF Research Database (Denmark)

    Zhang, Weishan; Hansen, Klaus Marius

    2009-01-01

    Planning (for example choosing most suitable servicesfor self-configuration) is one important task in selfmanagement for pervasive service computing, and can bereduced to the problem of multi-objective services selectionwith constraints. Genetic algorithms (GAs) are effectivein solving such multi...

  15. Delivery of Internet-based cancer genetic counselling services to patients' homes: a feasibility study.

    Science.gov (United States)

    Meropol, Neal J; Daly, Mary B; Vig, Hetal S; Manion, Frank J; Manne, Sharon L; Mazar, Carla; Murphy, Camara; Solarino, Nicholas; Zubarev, Vadim

    2011-01-01

    We examined the feasibility of home videoconferencing for providing cancer genetic education and risk information to people at risk. Adults with possible hereditary colon or breast and ovarian cancer syndromes were offered Internet-based counselling. Participants were sent web cameras and software to install on their home PCs. They watched a prerecorded educational video and then took part in a live counselling session with a genetic counsellor. A total of 31 participants took part in Internet counselling sessions. Satisfaction with counselling was high in all domains studied, including technical (mean 4.3 on a 1-5 scale), education (mean 4.7), communication (mean 4.8), psychosocial (mean 4.1) and overall (mean 4.2). Qualitative data identified technical aspects that could be improved. All participants reported that they would recommend Internet-based counselling to others. Internet-based genetic counselling is feasible and associated with a high level of satisfaction among participants.

  16. Cytogenetic Profile of Down Syndrome Cases Seen by a General Genetics Outpatient Service in Brazil

    Science.gov (United States)

    Biselli, Joice; Goloni-Bertollo, Eny; Ruiz, Mariangela; Pavarino-Bertelli, Erika

    2009-01-01

    Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of…

  17. A Genetic Algorithms-based Approach for Optimized Self-protection in a Pervasive Service Middleware

    DEFF Research Database (Denmark)

    Zhang, Weishan; Ingstrup, Mads; Hansen, Klaus Marius

    2009-01-01

    the constraints of heterogeneous devices and networks. In this paper, we present a Genetic Algorithms-based approach for obtaining optimized security configurations at run time, supported by a set of security OWL ontologies and an event-driven framework. This approach has been realized as a prototype for self...

  18. Commercialization of genetic testing services: the FDA, market forces, and biological tarot cards.

    Science.gov (United States)

    Malinowski, M J; Blatt, R J R

    1997-03-01

    Many women fear being diagnosed with breast cancer, and rightfully so. Despite the capabilities of modern medicine, the cumulative lifetime risk of getting the disease has risen to one in eight and, despite decades of research, no cures exist. In this Article, the authors explore the commercialization of so-called breast cancer gene tests, based upon genetic alterations linked to the disease. Although the authors fully address this specific technology, they use what constitutes the seminal case of predictive genetic testing to analyze the adequacy of the existing regulatory framework. The authors conclude that the present regulatory system is inadequate and places a dangerous amount of reliance on primary care physicians. Their conclusion is grounded in the observation that most primary care physicians lack sufficient knowledge about this evolving investigative technology--which is highly subject to misinterpretation, and, though potentially helpful to some "high risk" patients, offers questionable clinical value for the general public. The authors set forth numerous proposals to promote both the quality and clinical value of predictive genetic testing so that it conforms to public health standards and can be properly integrated as a reliable component of medical care in specific situations.

  19. Genetic expression programming-based DBA for enhancing peer-assisted music-on-demand service in EPON

    Science.gov (United States)

    Liem, Andrew Tanny; Hwang, I.-Shyan; Nikoukar, AliAkbar; Lee, Jhong-Yue

    2015-03-01

    Today, the popularity of peer-assisted music-on-demand (MoD) has increased significantly worldwide. This service allows users to access large music library tracks, listen to music, and share their playlist with other users. Unlike the conventional voice traffic, such an application maintains music quality that ranges from 160 kbps to 320 kbps, which most likely consumes more bandwidth than other traffics. In the access network, Ethernet passive optical network (EPON) is one of the best candidates for delivering such a service because of being cost-effective and with high bandwidth. To maintain music quality, a stutter needs to be prevented because of either network effects or when the due user was not receiving enough resources to play in a timely manner. Therefore, in this paper, we propose two genetic expression programming (GEP)-based dynamic bandwidth allocations (DBAs). The first DBA is a generic DBA that aims to find an optimum formula for voice, video, and data services. The second DBA aims to find optimum formulas so that Optical Line Terminal (OLT) can satisfy not only the voice and Peer-to-Peer (P2P) MoD traffics but also reduce the stutter. Optical Network Unit (ONU) traits such as REPORT and GATE messages, cycle time, and mean packet delay are set to be predictor variables. Simulation results show that our proposed DBAs can satisfy the voice and P2P MoD services packet delay and monitor other overall system performances such as expedited forwarding (EF) jitter, packet loss, bandwidth waste, and system throughputs.

  20. Analysing spatial trends in referral patterns to cancer genetics services: a preliminary investigation of regional variations in Wales.

    Science.gov (United States)

    McDonald, Kevin; Higgs, Gary; Iredale, Rachel; Tempest, Vanessa; Gray, Jonathon

    2004-11-01

    This paper discusses spatial trends in referral patterns to a cancer genetics service. It presents a literature review outlining the paucity of existing research, a preliminary analysis at the Unitary Authority level in Wales and advances a programme of further research to be conducted at a more detailed spatial level. The preliminary analysis shows a weak negative relationship between referral rates from primary care and social deprivation by Unitary Authority (Spearman rank correlation coefficient, sigma = -0.38). There is also a weak positive relationship between average settlement size and referral rates (sigma = +0.28), which taken together may indicate that primary care practices in affluent urban areas are more likely to refer than those in poorer rural areas. Future research will be conducted at a finer spatial scale, and will take into account characteristics of primary care practices and the patients being referred, amongst other variables.

  1. Norm Change in Genetic Services. How the Discourse of Choice Replaced the Discourse of Prevention

    Directory of Open Access Journals (Sweden)

    Diane B. Paul

    Full Text Available Abstract In the 1960s and '70s, it was generally assumed that reproductive choices have social consequences and thus are a matter of social concern. Socially-responsible reproductive behavior, in turn, was assumed to entail minimizing the risk of transmitting grave genetic diseases. Over time, such a view came increasingly to be labelled "eugenics," a term that would in much of the world acquire strongly negative connotations. By the 1990s, the old view had been largely replaced in the West by the tenet that procreation is a private matter, and that there are no right or wrong reproductive decisions. The primary aim of this essay is to explain and interpret this transformation, which was largely a product of the 1980s. Drawing on social-norms theory, which assumes that norms are always to some degree contested, it asks how those with an interest in changing prevailing attitudes were able to achieve such apparent rapid success.

  2. Using critical literacy to explore genetics and its ethical, legal, and social issues with in-service secondary teachers.

    Science.gov (United States)

    Gleason, Michael L; Melançon, Megan E; Kleine, Karynne L M

    2010-01-01

    The described interdisciplinary course helped a mixed population of in-service secondary English and biology teacher-participants increase their genetics content knowledge and awareness of Ethical, Legal, and Social Implications (ELSI) that arose from discoveries and practices associated with the Human Genome Project. This was accomplished by applying a critical literacy approach that allows people develop cognitive skills such that they are able to "read the world" (Wink, 2004). The approach is one that permits readers to go beyond the literal text to examine what is present as well as what is missing as it relates to issues of equity and fairness. Becoming critically literate enabled these teacher-participants to challenge the subtle attitudes, values, and beliefs conveyed by a range of written and oral texts. The teacher-participants in this course improved their critical literacy skills by actively reading, critically writing about, and using evidence to support their conclusions about issues arising from advances in human genetics. A biologist, a linguist, and an educator collaboratively designed and taught the course. The personalized focus on the integration of thoughtful reading and writing in this class enhanced the teacher-participants' (n = 16) professional and intellectual development and will potentially improve learning in their biology and English classrooms in the future.

  3. The Legal Past, Present and Future of Prenatal Genetic Testing: Professional Liability and Other Legal Challenges Affecting Patient Access to Services

    Directory of Open Access Journals (Sweden)

    Deborah Pergament

    2014-12-01

    Full Text Available This chapter is an overview of the current status of the law in the United States regarding prenatal genetic testing with an emphasis on issues related to professional liability and other challenges affecting patient access to prenatal genetic testing. The chapter discusses the roles that federal regulations, promulgated by the Centers for Medicare and Medicaid Services (CMS, the Food and Drug Administration (FDA and the Federal Trade Commission (FTC, play in the regulation of prenatal genetic tests. The chapter discusses tort litigation based on allegations of malpractice in the provision of prenatal genetic testing and how courts have analyzed issues related to causation, damages and mitigation of damages. The chapter provides reference information regarding how individual states address causes of action under the tort theories of wrongful birth and wrongful life. The chapter concludes with a discussion of future legal issues that may affect clinical prenatal genetic testing services arising from the continued expansion of prenatal genetic testing, legal restrictions on access to abortion and the potential development of embryonic treatments.

  4. The Legal Past, Present and Future of Prenatal Genetic Testing: Professional Liability and Other Legal Challenges Affecting Patient Access to Services.

    Science.gov (United States)

    Pergament, Deborah; Ilijic, Katie

    2014-12-15

    This chapter is an overview of the current status of the law in the United States regarding prenatal genetic testing with an emphasis on issues related to professional liability and other challenges affecting patient access to prenatal genetic testing. The chapter discusses the roles that federal regulations, promulgated by the Centers for Medicare and Medicaid Services (CMS), the Food and Drug Administration (FDA) and the Federal Trade Commission (FTC), play in the regulation of prenatal genetic tests. The chapter discusses tort litigation based on allegations of malpractice in the provision of prenatal genetic testing and how courts have analyzed issues related to causation, damages and mitigation of damages. The chapter provides reference information regarding how individual states address causes of action under the tort theories of wrongful birth and wrongful life. The chapter concludes with a discussion of future legal issues that may affect clinical prenatal genetic testing services arising from the continued expansion of prenatal genetic testing, legal restrictions on access to abortion and the potential development of embryonic treatments.

  5. Health Orientation, Knowledge, and Attitudes toward Genetic Testing and Personalized Genomic Services: Preliminary Data from an Italian Sample

    Directory of Open Access Journals (Sweden)

    Serena Oliveri

    2016-01-01

    Full Text Available Objective. The study aims at assessing personality tendencies and orientations that could be closely correlated with knowledge, awareness, and interest toward undergoing genetic testing. Methods. A sample of 145 subjects in Italy completed an online survey, investigating demographic data, health orientation, level of perceived knowledge about genetic risk, genetic screening, and personal attitudes toward direct to consumer genetic testing (DTCGT. Results. Results showed that respondents considered genetic assessment to be helpful for disease prevention, but they were concerned that results could affect their life planning with little clinical utility. Furthermore, a very high percentage of respondents (67% had never heard about genetic testing directly available to the public. Data showed that personality tendencies, such as personal health consciousness, health internal control, health esteem, and confidence, motivation to avoid unhealthiness and motivation for healthiness affected the uptake of genetic information and the interest in undergoing genetic testing. Conclusions. Public knowledge and attitudes toward genetic risk and genetic testing among European countries, along with individual personality and psychological tendencies that could affect these attitudes, remain unexplored. The present study constitutes one of the first attempts to investigate how such personality tendencies could motivation to undergo genetic testing and engagement in lifestyle changes.

  6. Health Orientation, Knowledge, and Attitudes toward Genetic Testing and Personalized Genomic Services: Preliminary Data from an Italian Sample

    Science.gov (United States)

    Arnaboldi, Paola; Cutica, Ilaria; Fioretti, Chiara

    2016-01-01

    Objective. The study aims at assessing personality tendencies and orientations that could be closely correlated with knowledge, awareness, and interest toward undergoing genetic testing. Methods. A sample of 145 subjects in Italy completed an online survey, investigating demographic data, health orientation, level of perceived knowledge about genetic risk, genetic screening, and personal attitudes toward direct to consumer genetic testing (DTCGT). Results. Results showed that respondents considered genetic assessment to be helpful for disease prevention, but they were concerned that results could affect their life planning with little clinical utility. Furthermore, a very high percentage of respondents (67%) had never heard about genetic testing directly available to the public. Data showed that personality tendencies, such as personal health consciousness, health internal control, health esteem, and confidence, motivation to avoid unhealthiness and motivation for healthiness affected the uptake of genetic information and the interest in undergoing genetic testing. Conclusions. Public knowledge and attitudes toward genetic risk and genetic testing among European countries, along with individual personality and psychological tendencies that could affect these attitudes, remain unexplored. The present study constitutes one of the first attempts to investigate how such personality tendencies could motivation to undergo genetic testing and engagement in lifestyle changes. PMID:28105428

  7. Cancer Genetics Services Directory

    Science.gov (United States)

    ... Resources Conducting Clinical Trials Statistical Tools and Data Terminology Resources NCI Data Catalog Cryo-EM NCI's Role ... Report (RPPR) Grant Closeout Grant Resources NCI Grants Management Legal Requirements NCI Grant Policies Grants Management Contacts ...

  8. Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.

    Science.gov (United States)

    Roberts, Jennifer L; Hovanes, Karine; Dasouki, Majed; Manzardo, Ann M; Butler, Merlin G

    2014-02-01

    Chromosomal microarray analysis is now commonly used in clinical practice to identify copy number variants (CNVs) in the human genome. We report our experience with the use of the 105 K and 180K oligonucleotide microarrays in 215 consecutive patients referred with either autism or autism spectrum disorders (ASD) or developmental delay/learning disability for genetic services at the University of Kansas Medical Center during the past 4 years (2009-2012). Of the 215 patients [140 males and 75 females (male/female ratio=1.87); 65 with ASD and 150 with learning disability], abnormal microarray results were seen in 45 individuals (21%) with a total of 49 CNVs. Of these findings, 32 represented a known diagnostic CNV contributing to the clinical presentation and 17 represented non-diagnostic CNVs (variants of unknown significance). Thirteen patients with ASD had a total of 14 CNVs, 6 CNVs recognized as diagnostic and 8 as non-diagnostic. The most common chromosome involved in the ASD group was chromosome 15. For those with a learning disability, 32 patients had a total of 35 CNVs. Twenty-six of the 35 CNVs were classified as a known diagnostic CNV, usually a deletion (n=20). Nine CNVs were classified as an unknown non-diagnostic CNV, usually a duplication (n=8). For the learning disability subgroup, chromosomes 2 and 22 were most involved. Thirteen out of 65 patients (20%) with ASD had a CNV compared with 32 out of 150 patients (21%) with a learning disability. The frequency of chromosomal microarray abnormalities compared by subject group or gender was not statistically different. A higher percentage of individuals with a learning disability had clinical findings of seizures, dysmorphic features and microcephaly, but not statistically significant. While both groups contained more males than females, a significantly higher percentage of males were present in the ASD group.

  9. Genetic Counseling Technology Service Platform on Promoting the Construction of Medical Genetics Course%论遗传咨询科技服务平台对医学遗传学课程建设的促进作用

    Institute of Scientific and Technical Information of China (English)

    罗佳滨; 朱金玲; 张春斌; 张虎; 刘爽

    2011-01-01

    遗传咨询工作是临床遗传学的重要组成部分.开放式的遗传咨询科技服务平台,构建了课外学习与课堂教学有机结合,师生互动的立体化教学体系,实践证明有利于提高学生综合素质,并有助于全面提升教师的教学素养,达到教学相长的目的.对医学遗传学课程建设起到了促进作用.%Genetic counseling work is an important component of clinical genetics. Open mode of genetic counseling technology service platform, constucts the extrcurricular leamling and teaching organically, teacher-student interaction of three-dimensional teaching body, Practise prove to raise students' comprehensive quality, and to raise the overall teachers' teaching quality, achieve teacher-and-stu-dents pupose, For medical genetics course construction plays a role in promoting.

  10. Genetic Counseling Technology Service Platform on Promoting the Construction of Medical Genetics Course%论遗传咨询科技服务平台对医学遗传学课程建设的促进作用

    Institute of Scientific and Technical Information of China (English)

    罗佳滨; 朱金玲; 张春斌; 张虎; 刘爽

    2011-01-01

    遗传咨询工作是临床遗传学的重要组成部分.开放式的遗传咨询科技服务平台,构建了课外学习与课堂教学有机结合,师生互动的立体化教学体系,实践证明有利于提高学生综合素质,并有助于全面提升教师的教学素养,达到教学相长的目的.对医学遗传学课程建设起到了促进作用.%Genetic counseling work is an important component of clinical genetics. Open mode of genetic counseling technology service platform, constucts the extrcurricular learnling and teaching organically, teacher-student interaction of three-dimensional teaching body, Practise prove to raise students' comprehensive quality, and to raise the overall teachers' teaching quality, achieve teacher-and-stu-dents pupose, For medical genetics course construction plays a role in promoting.

  11. 融合遗传蚁群算法的Web服务组合研究%Based Web Service Composition with Genetic Algorithm and Ant Colony Optimization

    Institute of Scientific and Technical Information of China (English)

    曹腾飞; 符云清; 钟明洋

    2012-01-01

    为了提高Web服务组合流程中服务选择技术的收敛性能,提出了一种基于遗传算法与蚁群算法相融合的多目标优化策略,用于解决基于QoS的Web服务组合问题.本文首先将Web服务组合的全局最优化问题转化为寻求一条QoS最优解的路径问题,并通过改进遗传算法得到蚁群算法中初始路径的信息素分布,再通过改进蚁群算法来求得最优解.仿真实验结果表明,该改进算法能在较少的进化代数下得到最优路径,提高了Web服务组合的快速全局搜索能力.%To improve the convergence ability of service selection technology in process of Web service composition, the paper presents a multi-objective optimization strategy based on genetic algorithm and ant colony algorithm to solve global optimization problem in QoS-based Web service composition. In the paper, global optimization problem in Web service composition is presented as a QoS optimal routing problem. And then, an improved genetic algorithm is proposed to get pheromone distribution in initial route of ant colony algorithm. At last, an improved ant colony algorithm is presented to get the optimal solution. Simulation result suggests that the improved algorithms can get the optimal routing in less evolutional generation than typical algorithms, and improve global research ability in Web Service compositioa

  12. Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing.

    Science.gov (United States)

    Kaufman, David J; Bollinger, Juli M; Dvoskin, Rachel L; Scott, Joan A

    2012-06-01

    Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to begin to address these questions. Random samples of U.S. DTC customers were invited to participate. Survey topics included demographics, perceptions of two sample DTC results, and health behaviors following DTC testing. Of 3,167 DTC customers invited, 33% (n = 1,048) completed the survey. Forty-three percent of respondents had sought additional information about a health condition tested; 28% had discussed their results with a healthcare professional; and 9% had followed up with additional lab tests. Sixteen percent of respondents had changed a medication or supplement regimen, and one-third said they were being more careful about their diet. Many of these health-related behaviors were significantly associated with responses to a question that asked how participants would perceive their colon cancer risk (as low, moderate, or high) if they received a test result showing an 11% lifetime risk, as compared to 5% risk in the general population. Respondents who would consider themselves to be at high risk for colon cancer were significantly more likely to have sought information about a disease (p = 0.03), discussed results with a physician (p = 0.05), changed their diet (p = 0.02), and started exercising more (p = 0.01). Participants' personal health contexts--including personal and family history of disease and quality of self-perceived health--were also associated with health-related behaviors after testing. Subjective interpretations of genetic risk data and personal context appear to be related to health behaviors among DTC customers. Sharing DTC test results with healthcare professionals may add perceived utility to the tests.

  13. Genetic Variability of Service Tree (Sorbus domestica L. in the Hungarian Middle Mountains – Based on cpDNA Analysis in Two Regions

    Directory of Open Access Journals (Sweden)

    NYÁRI, László

    2010-01-01

    Full Text Available A genetic inventory was conducted at maternally inherited chloroplast DNA(cpDNA gene loci of 196 adult service trees (S. domestica. The sampled trees representautochthonous collectives/populations originating from 2 distant regions, from contrastinghabitats, a forested area (eastern part of the Dunazug Mountains and cultured habitats (ZemplénMountains, respectively.Strong intrapopulation variation was observed; percentages of molecular variance were: betweenregions 27%, among populations/regions 6%, within populations 67%. Considering all samples, themajor part of total diversity (ht = 0.752 was contributed by intrapopulation diversity (hs = 0.583.Species diversity was represented differently in individual populations. E.g. the populationKácsárd contains only one haplotype: the doubtless sign of local human cultivation. The populationBuda Hills has an average differentiation considering the whole sampled material but the highest whenevaluating the region north from Budapest separately. That points to the dispersion after anintroduction event, probably parallel to adaptive radiation under selection influence.In the study genetically polymorphic populations containing unique haplotypes weredetected, providing important information for forest management, gene conservation andnature protection activities. The described work is part of ex situ gene conservation projects ofthe species in Hungary.

  14. Research on Innovating, Applying Multiple Paths Routing Technique Based on Fuzzy Logic and Genetic Algorithm for Routing Messages in Service - Oriented Routing

    Directory of Open Access Journals (Sweden)

    Nguyen Thanh Long

    2015-02-01

    Full Text Available MANET (short for Mobile Ad-Hoc Network consists of a set of mobile network nodes, network configuration changes very fast. In content based routing, data is transferred from source node to request nodes is not based on destination addresses. Therefore, it is very flexible and reliable, because source node does not need to know destination nodes. If We can find multiple paths that satisfies bandwidth requirement, split the original message into multiple smaller messages to transmit concurrently on these paths. On destination nodes, combine separated messages into the original message. Hence it can utilize better network resources, causes data transfer rate to be higher, load balancing, failover. Service Oriented Routing is inherited from the model of content based routing (CBR, combined with several advanced techniques such as Multicast, multiple path routing, Genetic algorithm to increase the data rate, and data encryption to ensure information security. Fuzzy logic is a logical field study evaluating the accuracy of the results based on the approximation of the components involved, make decisions based on many factors relative accuracy based on experimental or mathematical proof. This article presents some techniques to support multiple path routing from one network node to a set of nodes with guaranteed quality of service. By using these techniques can decrease the network load, congestion, use network resources efficiently.

  15. Primer on genetic counseling.

    Science.gov (United States)

    Hahn, Susan Estabrooks

    2011-04-01

    Once limited to rare mendelian disorders, genetic counseling is playing an ever-increasing role in the multidisciplinary approach to predicting, diagnosing, and managing neurologic disease. However, genetic counseling services may not be optimized because of lack of availability and lack of knowledge regarding when it is appropriate to refer, what occurs in genetic counseling, and how genetic counseling can affect care. These issues are addressed in this article, along with corresponding clinical scenarios. Websites to find genetic counseling services and resources are also provided.

  16. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women

    Science.gov (United States)

    ... Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-related Cancer in Women The U.S. Preventive Services ... Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-related Cancer in Women. This final recommendation statement ...

  17. An XML transfer schema for exchange of genomic and genetic mapping data: implementation as a web service in a Taverna workflow

    Directory of Open Access Journals (Sweden)

    Law Andy

    2009-08-01

    Full Text Available Abstract Background Genomic analysis, particularly for less well-characterized organisms, is greatly assisted by performing comparative analyses between different types of genome maps and across species boundaries. Various providers publish a plethora of on-line resources collating genome mapping data from a multitude of species. Datasources range in scale and scope from small bespoke resources for particular organisms, through larger web-resources containing data from multiple species, to large-scale bioinformatics resources providing access to data derived from genome projects for model and non-model organisms. The heterogeneity of information held in these resources reflects both the technologies used to generate the data and the target users of each resource. Currently there is no common information exchange standard or protocol to enable access and integration of these disparate resources. Consequently data integration and comparison must be performed in an ad hoc manner. Results We have developed a simple generic XML schema (GenomicMappingData.xsd – GMD to allow export and exchange of mapping data in a common lightweight XML document format. This schema represents the various types of data objects commonly described across mapping datasources and provides a mechanism for recording relationships between data objects. The schema is sufficiently generic to allow representation of any map type (for example genetic linkage maps, radiation hybrid maps, sequence maps and physical maps. It also provides mechanisms for recording data provenance and for cross referencing external datasources (including for example ENSEMBL, PubMed and Genbank.. The schema is extensible via the inclusion of additional datatypes, which can be achieved by importing further schemas, e.g. a schema defining relationship types. We have built demonstration web services that export data from our ArkDB database according to the GMD schema, facilitating the integration of

  18. Genetics Blood Card Use

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — SOP guiding collection of blood for genetics analysis. Provides stepwise instructions and guidance on how to collect DNA sample using a whole blood blot card

  19. 基于改进遗传算法的 Web 服务优化组合研究%ON OPTIMISATION OF WEB SERVICE COMPOSITION BASED ON IMPROVED GENETIC ALGORITHM

    Institute of Scientific and Technical Information of China (English)

    徐甜; 刘凌霞

    2016-01-01

    为了获得更优的 Web 服务优化组合方案,提出一种基于改进遗传算法的 Web 服务优化组合方法。首先将 Web 服务组合优化方案的可行解看作遗传算法的个体。然后通过遗传算法模拟自然界的生物进化过程,找到 Web 服务组合的最优解,同时在标准遗传算法引入多尺度交叉算子和信息共享因子,提高问题的求解速度。最后进行仿真对比实验。结果表明,改进遗传算法可以快速、准确找到 Web 服务组合问题的最优解,为解决 Web 服务组合问题提出了一种新的解决思路。%In order to obtain better optimisation scheme of Web service composition,this paper proposes an optimisation method which is based on the improved genetic algorithm.First,it deems the feasible optimisation scheme of Web service composition as the individual of genetic algorithm,and then simulates the biological evolution in nature through genetic algorithm to find optimal solution of Web service composition;meanwhile it introduces multi-scale crossover operator and information sharing factor to standard genetic algorithm to improve problem’s solving speed.Finally we carry out the comparative experiments in simulation.Results show that the improved genetic algorithm can find the optimal solution of Web service composition problem quickly and accurately,this provides a new solution idea to the problem of Web service composition.

  20. Genetic Discrimination

    Science.gov (United States)

    ... in Genetics Archive Regulation of Genetic Tests Genetic Discrimination Overview Many Americans fear that participating in research ... I) and employment (Title II). Read more Genetic Discrimination and Other Laws Genetic Discrimination and Other Laws ...

  1. You're a What? Genetic Counselor

    Science.gov (United States)

    Mullins, John

    2011-01-01

    When it first emerged about 50 years ago, genetic counseling focused primarily on prenatal testing to detect genetic conditions. But counseling services have evolved to keep pace with a greater knowledge of genetics and wider application of genetic diagnostic testing. Today, there are several types of genetic counselors, and their expertise covers…

  2. 基于QoS和量子遗传算法的Web服务选择%Web Service Selection Based on the QoS and Quantum Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    马力; 赵璟

    2014-01-01

    如何从互联网上大量存在的Web服务中选出符合用户需求的服务是一个很重要的研究方向。将量子遗传算法引入服务选择问题中,并将服务选择转换为基于QoS的多目标优化问题。量子遗传算法采用量子比特编码和量子旋转门变异,丰富了种群多样性,并具有更快的收敛速度。通过模拟验证,说明了该方法的可行性。%The existence of colossal Web services on the Internet makes it important to explore the means of the services which meet the users’ needs. In this study, the quantum genetic algo-rithm is introduced into the field of Web service selection which is in turn regarded as the prob-lem of multi-objective optimization based on QoS. The quantum genetic algorithm uses quantum bit encoding and quantum rotating gate to make variation. It enriches the diversity of the popu-lation and features faster convergence. Simulation has verified the effectiveness of QGA.

  3. New Genetics

    Science.gov (United States)

    ... Home > Science Education > The New Genetics The New Genetics Living Laboratories Classroom Poster Order a Free Copy ... Piece to a Century-Old Evolutionary Puzzle Computing Genetics Model Organisms RNA Interference The New Genetics is ...

  4. Genetics Home Reference: ornithine translocase deficiency

    Science.gov (United States)

    ... Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. J Hum Genet. ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  5. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  6. Genetic Mapping

    Science.gov (United States)

    ... Fact Sheets Fact Sheets En Español: Mapeo Genético Genetic Mapping What is genetic mapping? How do researchers create ... genetic map? What are genetic markers? What is genetic mapping? Among the main goals of the Human Genome ...

  7. Genetic Counseling

    Science.gov (United States)

    Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A ... meets with you to discuss genetic risks. The counseling may be for yourself or a family member. ...

  8. 基于遗传算法的LTE网络定位服务时延估计%Time-delay Estimation of Positioning Service in LTE Networks Based on Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    丘觐玮; 余天尧; 戴伟强; 王宝全; 陆音

    2016-01-01

    In order to reduce the interference of the NLOS environment to the wireless location system,a time-delay estimation scheme based on genetic algorithm is proposed. This scheme utilizes the characteristics of heuristic stochastic search ability of genetic algorithm, and the delay of LOS-path under NLOS environment can be obtained. Firstly,it uses the time of arrival and the angle of arrival as the o-riginal information in genetic algorithm. Secondly,according to the original information,it constructs an adaptive fitness function. Finally, the solution of the objective function is calculated,and the delay of LOS-path is obtained. The simulation shows that compared with the traditional time-delay estimation based on generalized cross correlation,the proposed scheme can effectively reduce the ambient noise un-der NLOS environment. On the premise of the objective function being able to describe the environment,genetic algorithm has the ability of fast solving the dominant solution under the complex environment,and it can meet the requirements of positioning service response speed and positioning accuracy for various kinds of position-service-based applications.%为降低NLOS环境对无线定位系统的干扰,文中提出了一种基于遗传算法的定位服务时延估计方案.该方案利用遗传算法启发性随机搜索的能力,求出NLOS环境下基站与移动台间的直视径时延.以各路径的到达时延以及到达角作为遗传算法的初始化信息,构建具有自适应性的适应度函数,通对目标函数求解得到直视径时延.仿真结果表明,该方案与传统的基于广义互相关的时延估计方案相比,可以有效降低NLOS环境下的环境噪声.在目标函数基本能够描述环境的前提下,遗传算法具有快速求解复杂环境下优势解的能力,可以满足各类依赖定位服务的应用对定位服务响应速度以及定位精度的要求.

  9. Clinical Genetic Testing in Gastroenterology

    Science.gov (United States)

    Goodman, Russell P; Chung, Daniel C

    2016-01-01

    Rapid advances in genetics have led to an increased understanding of the genetic determinants of human disease, including many gastrointestinal (GI) disorders. Coupled with a proliferation of genetic testing services, this has resulted in a clinical landscape where commercially available genetic tests for GI disorders are now widely available. In this review, we discuss the current status of clinical genetic testing for GI illnesses, review the available testing options, and briefly discuss indications for and practical aspects of such testing. Our goal is to familiarize the practicing gastroenterologist with this rapidly changing and important aspect of clinical care. PMID:27124700

  10. Genetic toxicology: web resources.

    Science.gov (United States)

    Young, Robert R

    2002-04-25

    Genetic toxicology is the scientific discipline dealing with the effects of chemical, physical and biological agents on the heredity of living organisms. The Internet offers a wide range of online digital resources for the field of Genetic Toxicology. The history of genetic toxicology and electronic data collections are reviewed. Web-based resources at US National Library of Medicine (NLM), including MEDLINE, PUBMED, Gateway, Entrez, and TOXNET, are discussed. Search strategies and Medical Subject Headings (MeSH) are reviewed in the context of genetic toxicology. The TOXNET group of databases are discussed with emphasis on those databases with genetic toxicology content including GENE-TOX, TOXLINE, Hazardous Substances Data Bank, Integrated Risk Information System, and Chemical Carcinogenesis Research Information System. Location of chemical information including chemical structure and linkage to health and regulatory information using CHEMIDPLUS at NLM and other databases is reviewed. Various government agencies have active genetic toxicology research programs or use genetic toxicology data to assist fulfilling the agency's mission. Online resources at the US Food and Drug Administration (FDA), the US Environmental Protection Agency (EPA), the National Institutes of Environmental Health Sciences, and the National Toxicology Program (NTP) are outlined. Much of the genetic toxicology for pharmaceuticals, industrial chemicals and pesticides that is performed in the world is regulatory-driven. Regulatory web resources are presented for the laws mandating testing, guidelines on study design, Good Laboratory Practice (GLP) regulations, and requirements for electronic data collection and reporting. The Internet provides a range of other supporting resources to the field of genetic toxicology. The web links for key professional societies and journals in genetic toxicology are listed. Distance education, educational media resources, and job placement services are also

  11. Factors affecting the development of genetic testing service by using quantitative SWOT analysis%定量态势分析法分析我国基因检测服务发展影响因素的研究

    Institute of Scientific and Technical Information of China (English)

    包鹤龄; 王红漫

    2011-01-01

    目的 研究我国以基因组技术为基础的基因检测服务发展影响因素及发展策略.方法 通过目的 抽样的方法选择基因组学和基因检测领域相关专家,对11名专家进行深入访谈并设计问卷,通过调查问卷获取25名专家的数据信息,态势分析法、层次分析法、内部因素评价矩阵和外部因素评价矩阵相结合的定量态势分析法进行数据分析,随机一致性比率(CR)检验逻辑一致性(CR<10%).结果 共确定15项关键影响因素,其中重要性排在前三位的分别是法律与市场规范缺失、国家已出台政策扶持和缺少知识产权保护,权重分别为0.099、0.091和0.087,国内基因检测服务发展处于战略态势图的第三象限.结论 国内基因检测服务发展宜采取防御性战略,回避外部威胁,克服自身缺点,降低基因检测所带来的风险.%Objective To analyze the factors affecting the development of genome technology-based genetic testing services. Methods Purposive sampling was used to select experts in the field of genome or genetic testing. Following interview with 11 experts,data was obtained from 25 individuals and analyzed by using quantitative SWOT analysis, including the concept of SWOT method, Analytic Hierarchy Process,Internal Factor Evaluation ( IFE ) Matrix, and External Factor Evaluation ( EFE ) Matrix. Consistent ratio (CR) was chosen to test the logic. Results Of the 15 critical affecting factors, the weighting coefficient of deficiency of laws and market regulations, state supporting policies, and lack of intellectual property protection was 0. 099,0. 091 and 0. 087, respectively. The development of genetic testing services was found in the third quadrant of SWOT analysis. Conclusion These findings suggest that defensive strategy should be taken to improve genetic testing services and to reduce the risk of genetic testing.

  12. Genetics of Ophraella leaf beetles

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This proposal is to collect samples of each species of Ophraella leaf beetle encountered, not to exceed 50 specimens per species, for genetic analysis using DNA...

  13. Genetics Home Reference: Cohen syndrome

    Science.gov (United States)

    ... presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet. 2003 Jun;72(6): ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  14. 基于改进遗传算法的QoS感知Web服务组合%Web Service Composition Supporting QoS Based on Improved Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    马小洁; 王晓军

    2012-01-01

    Even or random selecting is the common method used for generating initial population in genetic algorithm, however, the average fitness of the population generated by this method is low, and it is hard to ensure the searching efficiency of algorithm. In this study, propose a novel genetic algorithm (GA) for handling QoS-aware Web service composition, combining two initialized algorithms with GA at initialization stage to improve the algorithm effectiveness. Besides, build a path-template and variable length chromosomes service composition solution, for template paths will make the work easy and variable length chromosomes can support multi-path QoS-aware service composition. The superiority of the algorithm is analyzed theoretically and its effectiveness is demonstrated by experimental results.%传统遗传算法在种群初始化的时候,普遍采用均匀取种法或随机取种法,这些方法生成的种群的平均适应度比较低,难以保证算法的搜索效率.文中提出一种改进的遗传算法用于QoS敏感的Web服务组合,采用两种不同的算法进行服务选择,避免了随机生成初始种群给算法带来的负面影响.并且,该算法将路径模板化以减少服务组合的工作量,用染色体可变长的编码方式来解决组合服务的多路径选择问题.通过仿真实验,与传统的算法相比,所提出的算法在实现服务组合时收敛更快,最优解的适应度更高.

  15. Genetic Disorders

    Science.gov (United States)

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  16. Genetic modification and genetic determinism.

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-06-26

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  17. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  18. Genetic principles.

    Science.gov (United States)

    Abuelo, D

    1987-01-01

    The author discusses the basic principles of genetics, including the classification of genetic disorders and a consideration of the rules and mechanisms of inheritance. The most common pitfalls in clinical genetic diagnosis are described, with emphasis on the problem of the negative or misleading family history.

  19. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  20. Genetic modification and genetic determinism

    OpenAIRE

    Vorhaus Daniel B; Resnik David B

    2006-01-01

    Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound....

  1. Mechanical Service; Service Mechanique

    Energy Technology Data Exchange (ETDEWEB)

    Alliaume, T.; Benoit, A.; Bonin, H.; Ducimetiere, D.; Essertaize, D.; Gelin, G.; Guillot, G.; Lemoine, C.; Mabo, J.C.; Mounier, F.; Tissot, S.; Verdier, G. [Inst. de Physique Nucleaire, Lyon-1 Univ., 69 - Villeurbanne (France)

    1998-12-31

    The service studies the mechanical part of the experiment or detectors used by the physics groups in collaboration with the physicists, engineers and the technicians of the experiment assistance group as well as with other technical groups. The mechanical service was implied in the following projects: CMS, VIRGO (the IGISOL ion guide chamber), PIAFE, NA50 (reaction chamber, metallic cluster source), ORION, SICANE, EDELWEISS II 2 figs.

  2. 基于多目标遗传算法的云服务部署优化方法%Cloud service deployment optimization method based on multi-objective genetic algorithm

    Institute of Scientific and Technical Information of China (English)

    颉斌; 杨扬; 旷毅

    2016-01-01

    将服务部署优化问题建模为多目标组合优化问题。在多目标遗传算法的基础上,把部署方案转换为基因编码,用轮盘赌选择机制选择个体,用单点交叉算子产生新的子代,并以设定的概率发生变异。对合适个体考虑支配值和稀疏值设计适应度函数;对不合适个体根据支配值和SLA冲突设计适应度函数。最后给出了优化过程。通过仿真实验可以看出:随着迭代次数的增加,适应度值及各个优化指标值逐渐收敛于一个固定且较优值,说明利用设计的优化算法,能使各个优化目标值较快地收敛到一个较优解,能较好地帮助基础设施即服务(SaaS )提供商在部署应用服务时进行有效规划和决策。%The optimization of service deployment was modeled as multi‐objective composition optimi‐zation .On the basis of multi‐objective genetic algorithm ,deployment solutions were converted to gene codes ;individuals were selected by roulette mechanism ;new generations were produced by single point crossover operator ;variations were appeared in preset probability .The fitness function for fit individuals was based on dominant value and sparse value ,while this function for unfit individuals was based on dominant value and SLA collisions .The optimization process was also proposed .In simula‐tion experiment the fitness value and other evaluations converge at a fixed and general optimal value gradually when iteration number increases .It shows that the optimization method in this paper can help multi‐objective values converge at a general optimal value and give help to infrastructure as a service(SaaS) provider on planning and decision of service deployment .

  3. Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market.

    Science.gov (United States)

    Harris, Anna; Kelly, Susan E; Wyatt, Sally

    2013-04-01

    Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics' concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.

  4. Genetic barcodes

    Energy Technology Data Exchange (ETDEWEB)

    Weier, Heinz -Ulrich G

    2015-08-04

    Herein are described multicolor FISH probe sets termed "genetic barcodes" targeting several cancer or disease-related loci to assess gene rearrangements and copy number changes in tumor cells. Two, three or more different fluorophores are used to detect the genetic barcode sections thus permitting unique labeling and multilocus analysis in individual cell nuclei. Gene specific barcodes can be generated and combined to provide both numerical and structural genetic information for these and other pertinent disease associated genes.

  5. Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market

    NARCIS (Netherlands)

    Harris, A.; Kelly, S.; Wyatt, S.

    2013-01-01

    Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing

  6. Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market

    NARCIS (Netherlands)

    Harris, A.; Kelly, S.; Wyatt, S.

    2013-01-01

    Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing c

  7. Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market

    NARCIS (Netherlands)

    Harris, A.; Kelly, S.; Wyatt, S.

    2013-01-01

    Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing c

  8. Multicultural education and genetic counseling.

    Science.gov (United States)

    Weil, J

    2001-03-01

    The responsibility to provide accessible, useful genetic counseling to individuals from many cultures and ethnicities arises from the increasing ethnocultural diversity of the populations served, coupled with the ethical goal of providing equal access and quality of services for all individuals. The multicultural education, training, and practice of genetic counseling involves three major components: knowledge of relevant ethnocultural groups, ethnocultural self-awareness, and an understanding of institutional and social barriers to services. Despite the diversity of ethnocultural groups served and the critical role of direct experience and training for the genetic counselor, some general guidelines for multicultural genetic counseling can be identified. These include the importance of establishing and maintaining trust, the essential need to respect the counselee's healthcare beliefs and practices, and the necessity of understanding the impact of culture on the process of decision making and on counselee responses to nondirective counseling.

  9. Service Gateway

    Institute of Scientific and Technical Information of China (English)

    WANG Guozhong; HOU Gang; HUANG Zeqing

    2003-01-01

    This article focuses on the service gateway which implements the Open Service gateway Initiative (OSGI), it manages voice, data, Internet, and multimedia communications to and from the home, office and other locations. This service gateway can also function as an application server for a range of high value services such as energy management and control, safety and security services, health care monitoring services, device control and maintenance, electronic commerce services and more.

  10. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  11. Angelina Jolie's Mastectomies Tied to Rise in Genetic Testing

    Science.gov (United States)

    ... html Angelina Jolie's Mastectomies Tied to Rise in Genetic Testing But, researchers did not find a corresponding increase ... Human Services. More Health News on: Breast Cancer Genetic Testing Mastectomy Recent Health News Related MedlinePlus Health Topics ...

  12. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  13. Genetic Counseling

    Science.gov (United States)

    ... for certain types of genetic conditions (such as Down syndrome) in the baby if mother-to-be is 35 years of age or more, or is concerned at any age about her chances of having a child with a genetic condition To learn about the ...

  14. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    . This article compares and contrasts the work of two doctors in Finland, Elias Lönnrot and Reijo Norio, working over a century and a half apart, to examine the ways in which they have contributed to the formation of national identity and unity. The notion of genetic romanticism is introduced as a term...... to complement the notion of national romanticism that has been used to describe the ways in which nineteenth-century scholars sought to create and deploy common traditions for national-romantic purposes. Unlike national romanticism, however, strategies of genetic romanticism rely on the study of genetic...... inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  15. Medical genetics in Paraguay.

    Science.gov (United States)

    Ascurra de Duarte, Marta

    2004-01-01

    Paraguay is a developing country with low levels of health coverage, with 81% of the population without health insurance, a proportion that reaches 98.1% among the poor, 93% among the rural population and 91.7% among the mainly Guarani-speaking population. The infant mortality rate is 19.4 per 1,000, although there is gross under-reporting. Maternal mortality rate is alarmingly high at 110.9 per 100,000 livebirths, reaching 420.5 in rural areas. There are only two clinical geneticists and four biochemists trained in human genetics, and virtually all genetic services in the country are concentrated in the 'Instituto de Investigaciones en Ciencias de la Salud' (IICS) from the National University. The teaching of medical genetics in medical schools is included in physiology and pathology courses, while at the postgraduate level, training in medical genetics is limited to pediatrics and gynecology. In 1999, a pilot newborn screening program was initiated to determine the frequency of congenital hypothyroidism and phenylketonuria and to provide early treatment for affected babies. Another pilot project recently launched by the Ministry of Health is the Program for the Prevention of Neural Tube Defects, mandating folic acid fortification of flour, but as of the end of 2003 it had not been implemented. Paraguay lacks adequate resources to provide accurate diagnoses and treatment of genetic conditions.

  16. 75 FR 68321 - Forage Genetics International; Supplemental Request for Partial Deregulation of Roundup Ready...

    Science.gov (United States)

    2010-11-05

    ... Animal and Plant Health Inspection Service Forage Genetics International; Supplemental Request for... ``partial deregulation'' from Forage Genetics International for the planting, harvesting, and movement... submitted to the Agency from Forage Genetics International requesting a ``partial deregulation.'' ADDRESSES...

  17. Communities and community genetics in Ethiopia.

    Science.gov (United States)

    Tadesse, Luche; Tafesse, Fikru; Hamamy, Hanan

    2014-01-01

    The rates of congenital and genetic disorders in low and middle income countries are similar or might be higher than in high income countries due to a multitude of risk factors and the dearth of community genetic services. To direct effective preventive, diagnostic and counseling services, collecting data on the incidence and prevalence of various congenital and genetic disorders and their risk factors is a pre-requisite for establishing genetic services at the community level and mainly at the primary health care setting. This brief review is meant to assess the available epidemiological data in Ethiopia pertaining to congenital and genetic disorders on which the future community genetic services could be built. Existing epidemiological data on congenital and genetic disorders in Ethiopia is limited, and the few studies conducted revealed that folate and iodine deficiencies are prevalent among women in the reproductive age. Pregnant women's infection with syphilis and rubella is prevailing. Based on available data, cleft lip and palate, congenital heart diseases, club-foot, and gastro-intestinal malformations are the most common birth defects in Ethiopia. Community based studies to accurately demonstrate the incidence and prevalence levels of these disorders are almost unavailable. To plan for organization and implementation of community genetic services at the primary health care level in Ethiopia, conducting standardized epidemiological studies is currently highly recommended.

  18. FAX SERVICE

    CERN Multimedia

    Telephone Service

    2002-01-01

    As from 1st of July 2002, responsibility for running the Fax Service will be transfered to the Printer Service. Future requests for machines, toner and breakdown should be sent to Printer.Support@cern.ch - tel 78888. Telephone Service

  19. Medical Services: Ophthalmic Services

    Science.gov (United States)

    2007-11-02

    Atlan- tic Treaty Organization (NATO) nations and of other officially rec- ognized foreign military personnel at military installations within the...representatives of religious groups, celebrities, and enter- tainers; representatives of the United Service Organization( USO ), other social agencies, and...from DOD, or from one of the military depart- ments, to visit military commands overseas. b. Dependents of USO oversea area executives, club directors

  20. Service Modularity

    DEFF Research Database (Denmark)

    Avlonitis, Viktor; Hsuan, Juliana

    2015-01-01

    The purpose of this research is to investigate the studies on service modularity with a goal of informing service science and advancing contemporary service systems research. Modularity, a general systems property, can add theoretical underpinnings to the conceptual development of service science...... in general and service systems in particular. Our research is guided by the following question: how can modularity theory inform service system design? We present a review of the modularity literature and associated concepts. We then introduce the contemporary service science and service system discourse...

  1. Contribution of genetics to ecological restoration.

    Science.gov (United States)

    Mijangos, Jose Luis; Pacioni, Carlo; Spencer, Peter B S; Craig, Michael D

    2015-01-01

    Ecological restoration of degraded ecosystems has emerged as a critical tool in the fight to reverse and ameliorate the current loss of biodiversity and ecosystem services. Approaches derived from different genetic disciplines are extending the theoretical and applied frameworks on which ecological restoration is based. We performed a search of scientific articles and identified 160 articles that employed a genetic approach within a restoration context to shed light on the links between genetics and restoration. These articles were then classified on whether they examined association between genetics and fitness or the application of genetics in demographic studies, and on the way the studies informed restoration practice. Although genetic research in restoration is rapidly growing, we found that studies could make better use of the extensive toolbox developed by applied fields in genetics. Overall, 41% of reviewed studies used genetic information to evaluate or monitor restoration, and 59% provided genetic information to guide prerestoration decision-making processes. Reviewed studies suggest that restoration practitioners often overlook the importance of including genetic aspects within their restoration goals. Even though there is a genetic basis influencing the provision of ecosystem services, few studies explored this relationship. We provide a view of research gaps, future directions and challenges in the genetics of restoration.

  2. Genetic Breakthrough

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    A new calf breeding technique shows promise for treating malignant tumors Chinese scientists have successfully bred a genetically altered cow capable of producing cancer-curing proteins for human beings.

  3. Mitochondrial genetics

    OpenAIRE

    Chinnery, Patrick Francis; Hudson, Gavin

    2013-01-01

    Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding mitochondria before introducing both classic and emerging mitochondrial disorders. Sources of data In this article, a review of the current mitochondrial genetics literature was con...

  4. Knowledge, Attitudes, and Practice Regarding Genetic Testing and Genetic Counselors in Jordan: A Population-Based Survey.

    Science.gov (United States)

    Ahram, Mamoun; Soubani, Majd; Abu Salem, Lana; Saker, Haneen; Ahmad, Muayyad

    2015-12-01

    Genetic testing has a potential in the prevention of genetic diseases, particularly in communities with high rates of consanguineous marriage. Therefore, knowledge, practice, and attitudes of the public in Jordan regarding genetic testing were investigated. Individuals (N = 3,196) were questioned about the concepts of genetic testing and genetic counselors, if they underwent any genetic tests, the type of test, the method of consenting to the test, as well as their level of satisfaction with the privacy of the genetic testing service. The likelihood of pursuing predictive genetic testing for cancer was also investigated. Although almost 70 % of respondents knew the term "genetic testing," only 18 % had undergone genetic testing, primarily the mandatory premarital test. In addition, there was a lack of general knowledge about genetic counselors. Many of those who had genetic testing (45 %) indicated they did not go through a consent process, and a lack of consent was significantly related to dissatisfaction with the privacy of the service. Approximately 55 % of respondents indicated they would potentially pursue predictive genetic testing for cancer. Going for routine health checkups was not significantly correlated with either actual or potential uptake of genetic testing, suggesting health care providers do not play an influential role in patients' testing decisions. Our results show a gap between the knowledge and uptake of genetic testing and may help to guide the design of effective strategies to initiate successful genetic counseling and testing services.

  5. Ecosystem services

    Science.gov (United States)

    Trista Patterson

    2014-01-01

    Since its inception, the ecosystem service approach has stimulated interest from numerous planning, management, and partnership perspectives. To date, however, research that quantifies ecosystem services in the study area (in the form of explicit ecosystem service studies) has been limited. This chapter reviews and synthesizes the concept of ecosystem services,...

  6. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  7. RNA genetics

    Energy Technology Data Exchange (ETDEWEB)

    Domingo, E. (Instituto de Biologia Molecular, Facultad de Ciencias, Universidad Autonoma de Madrid, Canto Blanco, Madrid (ES)); Holland, J.J. (California Univ., San Diego, La Jolla, CA (USA). Dept. of Biology); Ahlquist, P. (Wisconsin Univ., Madison, WI (USA). Dept. of Plant Pathology)

    1988-01-01

    This book contains the proceedings on RNA genetics: RNA-directed virus replication Volume 1. Topics covered include: Replication of the poliovirus genome; Influenza viral RNA transcription and replication; and Relication of the reoviridal: Information derived from gene cloning and expression.

  8. Genetic counseling

    Science.gov (United States)

    ... MF, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice . 7th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 30. Review Date 1/25/2016 Updated by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare ...

  9. Service Innovations

    DEFF Research Database (Denmark)

    Sørensen, Lene Tolstrup; Nicolajsen, Hanne Westh

    2010-01-01

    This article discusses the challenges in relation to an ongoing project named converged advanced mobile media platform (CAMMP), where all the different stakeholders need to have a saying in the service development for the upcoming rich, mobile broadcasting services.......This article discusses the challenges in relation to an ongoing project named converged advanced mobile media platform (CAMMP), where all the different stakeholders need to have a saying in the service development for the upcoming rich, mobile broadcasting services....

  10. Service marketing

    Directory of Open Access Journals (Sweden)

    Babić-Hodović Vesna

    2002-01-01

    Full Text Available Development of postindustrial society and services revolution created numerous changes in size of consumer demand, consumer reaction and priorities. Continuous change on the side of demand and offer must follow changes in marketing orientation. Leader in that change is services marketing which by knowing services range and all the changes builds a new concept called Relationship Marketing.

  11. IGP Services

    Science.gov (United States)

    Smith, Warren

    2003-01-01

    The goal is location-independent computing. Implementing a set of services to satisfy this goal, build upon the GLOBUS toolkit services, and implementing with OGSA. Current status includes: Event service, Job manager, Resource selector and Broker, Next versions in development.Development includes: Monitoring and testing, Portability manager, Performance prediction, Dynamic accounting, and MDS evaluation.

  12. Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

    Science.gov (United States)

    Claustres, Mireille; Kožich, Viktor; Dequeker, Els; Fowler, Brain; Hehir-Kwa, Jayne Y; Miller, Konstantin; Oosterwijk, Cor; Peterlin, Borut; van Ravenswaaij-Arts, Conny; Zimmermann, Uwe; Zuffardi, Orsetta; Hastings, Ros J; Barton, David E

    2014-02-01

    Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing reporting practice of genetic tests has been recognised by the External Quality Assessment (EQA), providers and laboratories. The ESHG Genetic Services Quality Committee has produced reporting guidelines for the genetic disciplines (biochemical, cytogenetic and molecular genetic). These guidelines give assistance on report content, including the interpretation of results. Selected examples of genetic test reports for all three disciplines are provided in an annexe.

  13. Genetic privacy in sports: clearing the hurdles.

    Science.gov (United States)

    Callier, Shawneequa

    2012-12-01

    As genomic medicine continues to advance and inform clinical care, knowledge gained is likely to influence sports medicine and training practices. Susceptibility to injury, sudden cardiac failure, and other serious conditions may one day be tackled on a subclinical level through genetic testing programs. In addition, athletes may increasingly consider using genetic testing services to maximize their performance potential. This paper assesses the role of privacy and genetic discrimination laws that would apply to athletes who engage in genetic testing and the limits of these protections.

  14. Melanoma genetics

    DEFF Research Database (Denmark)

    Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

    2016-01-01

    Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... of heritable melanoma risk genes is an important component of disease occurrence. Susceptibility for some families is due to mutation in one of the known high penetrance melanoma predisposition genes: CDKN2A, CDK4, BAP1, POT1, ACD, TERF2IP and TERT. However, despite such mutations being implicated...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...

  15. Genetic Testing for ALS

    Science.gov (United States)

    ... Involved Donate Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing By Deborah Hartzfeld, MS, CGC, Certified Genetic Counselor ... in your area, please visit www.nsgc.org . Genetic Testing Genetic testing can help determine the cause of ...

  16. Genetic Science Learning Center

    Science.gov (United States)

    ... Mouse Party on Learn.Genetics.utah.edu Students doing the Tree of Genetic Traits activity Learn.Genetics is one of the most widely used science education websites in the world The Community Genetics ...

  17. [Issues on business of genetic testing in near future].

    Science.gov (United States)

    Takada, Fumio

    2009-06-01

    Since 1990's, a business condition that company sells genetic testing services directly to consumers without through medical facility, so called "direct-to-consumers (DTC) genetic testing", has risen. They provide genetic testing for obesity, disease susceptibility or paternity, etc. There are serious problems in this kind of business. Most of the providers do not make sales with face-to-face selling, and do through internet instead. They do not provide genetic counseling by certified genetic counselor or clinical geneticist. Most DTC genetic testing services for disease susceptibility or predispositions including obesity, lack scientific validity, clinical validity and clinical utility. And also including paternity genetic testing, they all have risks of ethical legal and social issues (ELSI) in genetic discrimination and/or eugenics. The specific problem in Japan is that the healthcare section of the government still has not paid attention and not taken seriously the requirement to deploy safety net.

  18. Dosimetry Service

    CERN Multimedia

    2006-01-01

    Cern Staff and Users can now consult their dose records for an individual or an organizational unit with HRT. Please see more information on our web page: http://cern.ch/rp-dosimetry Dosimetry Service is open every morning from 8.30 - 12.00. Closed in the afternoons. We would like to remind you that dosimeters cannot be sent to customers by internal mail. Short-term dosimeters (VCT's) must always be returned to the Service after the use and must not be left on the racks in the experimental areas or in the secretariats. Dosimetry Service Tel. 7 2155 Dosimetry.service@cern.ch http://cern.ch/rp-dosimetry

  19. Genetic neurological channelopathies: molecular genetics and clinical phenotypes.

    Science.gov (United States)

    Spillane, J; Kullmann, D M; Hanna, M G

    2016-01-01

    Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact on almost any area of neurological practice. Typically, neurological channelopathies are inherited in an autosomal dominant fashion and cause paroxysmal disturbances of neurological function, although the impairment of function can become fixed with time. These disorders are individually rare, but an accurate diagnosis is important as it has genetic counselling and often treatment implications. Furthermore, the study of less common ion channel mutation-related diseases has increased our understanding of pathomechanisms that is relevant to common neurological diseases such as migraine and epilepsy. Here, we review the molecular genetic and clinical features of inherited neurological channelopathies. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  20. An overview of genetic counseling in Cuba.

    Science.gov (United States)

    Cruz, Araceli Lantigua

    2013-12-01

    This brief report provides an overview of the history and current status of genetic services in Cuba. In 1971, the University of Medical Sciences of Havana began to train doctors in medical genetics according to the medicine development plan in Cuba. With the aim of introducing genetic services to the population, two main issues were identified: the impact of neural tube defects as a cause of infantile mortality, and a founder effect resulting in a high frequency of sickle cell anemia, which increased the mortality rate and impacted the quality of peoples' lives. The impact of consanguinity is variable; it depends on the isolation of the population, with rates of 1 to 11% in different regions for first and second cousin marriages. From 1981, the services of medical genetics began to expand to the entire country, according to a government directive, and the need to design a program for the specialty became evident. From 1995 to 2000, two Masters-level programs were designed by professors of the Department of Medical Genetics, University of Medical Sciences of Havana, and authorized by the Ministry of Higher Education. One program in medical genetics was designed for physicians with other specialties, and the second program was designed to train professionals to become genetic counselors. The majority of graduates from the latter program are working at the primary level of healthcare.

  1. CDBG Public Services Activity

    Data.gov (United States)

    Department of Housing and Urban Development — CDBG activity related to public services, including senior services, legal services, youth services, employment training, health services, homebuyer counseling, food...

  2. [Genetic amniocentesis].

    Science.gov (United States)

    Violante Díaz, M; Carrillo Hinojosa, M; García Necoechea, M P; Escobedo Aguirre, F; Lowenberg Favela, E; Ahued Ahued, J R

    1989-04-01

    179 patients were studied by genetic amniocentesis (GA) in sessions of 3 punctures each. This was done in order to follow a prenatal diagnosis (PD) program and study amniotic fluid at the Hospital Regional 20 de Novembre (ISSSTE) between May 1983 and December 1987. The parameters taken were: age, indications, number of sessions, number punctures, echosonographic studies for gestational age, placental insertion, punction site, amniotic fluid volume, blood contamination, failures and handling of the patient. A low incidence of abortion is reported. We don't have cases of dripping of amniotic fluid or transvaginal haemorrhage. Multiple insertion of the needle and placental or vessel lesions of the cord, as causes of a fetal death are still argued if we have in mind avoiding chances; we didn't have those complications in our cases. The percent is low if there are not previous spontaneous abortions. 79% of the amniotic fluid samples were sent between the 15th and 17th weeks of pregnancy. For alpha fetus protein determination 12 and for biochemical studies 1, specially for beta-galactosidase level. This was done at the Biomedical Investigation Institute of the National Autonomous University of Mexico (in parents with generalized gangliosidosis GM1). Even though results were good, the technique has still risks and complications. An ultrasonic study of the procedures made by physicians with trustable experience is needed. Our country has the need to create more Prenatal Genetic Diagnosis Centers.

  3. Registration Service

    CERN Multimedia

    GS Department

    2010-01-01

    Following a reorganization in Building 55, please note that the Registration Service is now organised as follows :  Ground floor: access cards (76903). 1st floor : registration of external firms’ personnel (76611 / 76622); car access stickers (76633); biometric registration (79710). Opening hours: 07-30 to 16-00 non-stop. GS-SEM Group General Infrastructure Services Department

  4. Telephone Service

    CERN Multimedia

    2005-01-01

    As part of the upgrade of telephone services, the CERN exchange switches will be updated on Thursday 2 June between 7.00 p.m. and midnight. Telephone services may be affected and possibly even disrupted during this operation. 

  5. A Population-Based Survey in Australia of Men's and Women's Perceptions of Genetic Risk and Predictive Genetic Testing and Implications for Primary Care

    National Research Council Canada - National Science Library

    Taylor, S

    2011-01-01

    Background: Community attitudes research regarding genetic issues is important when contemplating the potential value and utilisation of predictive testing for common diseases in mainstream health services...

  6. Identifying genetics and genomics nursing competencies common among published recommendations.

    Science.gov (United States)

    Greco, Karen E; Salveson, Catherine

    2009-10-01

    The purpose of this article is to identify published recommendations for genetics and genomics competencies or curriculum for nurses in the United States and to summarize genetic and genomic nursing competencies based on common themes among these documents. A review of the literature between January 1998 and June 2008 was conducted. Efforts were also made to access the gray literature. Five consensus documents describing recommendations for genetics and genomics competencies for nurses meeting inclusion criteria were analyzed. Twelve genetics and genomics competencies were created based on common themes among the recommendations. These competencies include: demonstrate an understanding of basic genetic and genomic concepts, provide and explain genetic and genomic information, refer to appropriate genetics professionals and services, and identify the limits of one's own genetics and genomics expertise. The competencies represent fundamental genetics and genomics competencies for nurses on the basis of common themes among several consensus recommendations identified in the literature.

  7. The National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS)

    Data.gov (United States)

    U.S. Department of Health & Human Services — The National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) is a national genetics data repository facilitating access to genotypic...

  8. IT Service

    Data.gov (United States)

    Department of Homeland Security — Means of delivering value to customers by facilitating outcomes customers want to achieve without the ownership of specific costs and risks. The term 'service' is...

  9. Serviced Living

    Institute of Scientific and Technical Information of China (English)

    LIU BO

    2006-01-01

    @@ As recently as ten years ago,the term serviced apartment made no sense to most people living in Beijing and residing in hotels was the only options for foreign visitors. But since then, serviced apartments have begun to appear in big cities all around China. In Beijing alone, it is estimated that there are more than 30,000service apartments spread across dozens of properties occupying a space of more than I million square meters. Concentrating in the Financial Street, the Central Business District and Zhongguancun, also known as China's Silicon Valley, the explosion in service apartments in the city continues to be fueled by the influx of overseas and domestic business people.

  10. Transplant services

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/007457.htm Transplant services To use the sharing features on this ... are comfortable before, during, and after surgery. Information Transplant surgery is typically done to replace a diseased ...

  11. Service modelling

    NARCIS (Netherlands)

    Steen, M.W.A.; Iacob, Maria Eugenia; Lankhorst, M.M.; Jonkers, H.; Zoet, M.; Engelsman, W.; Versendaal, J.; Proper, H.A.; Debije, L.; Gaaloul, K.; Lankhorst, M.

    2012-01-01

    The development of enterprise services involves making design decisions at different levels, ranging from strategic to infrastructural choices, and concerning many different aspects, ranging from customer interaction to information registration concerns. In order to support an agile development

  12. A genetic engineering approach to genetic algorithms.

    Science.gov (United States)

    Gero, J S; Kazakov, V

    2001-01-01

    We present an extension to the standard genetic algorithm (GA), which is based on concepts of genetic engineering. The motivation is to discover useful and harmful genetic materials and then execute an evolutionary process in such a way that the population becomes increasingly composed of useful genetic material and increasingly free of the harmful genetic material. Compared to the standard GA, it provides some computational advantages as well as a tool for automatic generation of hierarchical genetic representations specifically tailored to suit certain classes of problems.

  13. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  14. Applying the New Genetics

    Science.gov (United States)

    Sorenson, James

    1976-01-01

    New developments in the prediction and treatment of genetic diseases are presented. Genetic counseling and the role of the counselor, and rights of individuals to reproduce versus societal impact of genetic disorders, are discussed. (RW)

  15. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  16. PROSPECT OF MEDICAL GENETICS IN CHINA FROM A HISTORICAL POINT OF VIEW

    Institute of Scientific and Technical Information of China (English)

    Wilson H. Y. Lo

    2008-01-01

    @@ The history of medical genetics is briefly reviewed. It is evident that medical genetics with its inseparable part, clinical genetics, started out as a clinical science from the very beginning. Its robust development in the developed countries is the result of a close interaction between the basic sciences and clinical genetics. In China, however, clinical genetics has not received due emphasis and medical genetics is still not recognized as one of the medical specialties. This is in marked contrast to the situation in the West. It is high time to acknowledge that medical genetics is a medical specialty and to promote clinical genetics service in qualified hospitals in our country.

  17. Genetics Home Reference: vitiligo

    Science.gov (United States)

    ... physical functioning. However, concerns about appearance and ethnic identity are significant issues for many affected ... What information about a genetic condition can statistics provide? Why are some genetic ...

  18. Service refinement

    Institute of Scientific and Technical Information of China (English)

    HE JiFeng

    2008-01-01

    This paper presents a refinement calculus for service components. We model the behaviour of individual service by a guarded design, which enables one to separate the responsibility of clients from the commitment made by the system, and to iden-tify a component by a set of failures and divergences. Protocols are introduced to coordinate the interactions between a component with the external environment. We adopt the notion of process refinement to formalize the substitutivity of components, and provide a complete proof method based on the notion of simulations.

  19. Genetic aspects and genetic epidemiology of parasomnias.

    Science.gov (United States)

    Hublin, Christer; Kaprio, Jaakko

    2003-10-01

    Parasomnias are undesirable phenomena associated with sleep. Many of them run in families, and genetic factors have been long suggested to be involved in their occurrence. This article reviews the present knowledge of the genetics of the major classical behavioral parasomnias as well as present results from genetic epidemiological studies. The level and type of evidence for genetic effects varies much from parasomnia to parasomnia. The genetic factors are best established in enuresis, with several linkages to chromosomal loci, but their functions are not so far known. Environmental causes and gene-environment interactions are most probably also of great importance in the origin of complex traits or disorders such as parasomnias.

  20. Genetic stock identification of salmon stocks from Bristol Bay and Kuskokwim Bay, Alaska

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Under a contract with the National Oceanic and Atmospheric Administration, the U. S. Fish and Wildlife Service is studying the feasibility of genetic stock...

  1. Innovation in Services: From Service Concepts to Service Experiences

    OpenAIRE

    Fynes, Brian; Lally, Anne Marie

    2008-01-01

    ABSTRACT Identifying the nature of service experiences is recognised As being of primary importance in the shaping of an enhanced competitive position for industry; however service managers often have difficulty articulating the true nature of their service concept. The definition of service concept is a fundamental part of the strategic advantage seeking Processes of service design, service development and service innovation. In response to the competitive Imperative for improved product/...

  2. Innovation in Services: From Service Concepts to Service Experiences

    OpenAIRE

    Fynes, Brian; Lally, Anne Marie

    2008-01-01

    ABSTRACT Identifying the nature of service experiences is recognised As being of primary importance in the shaping of an enhanced competitive position for industry; however service managers often have difficulty articulating the true nature of their service concept. The definition of service concept is a fundamental part of the strategic advantage seeking Processes of service design, service development and service innovation. In response to the competitive Imperative for improved product/...

  3. Genetic Variation Within and Among Populations of Delmarva Fox Squirrels

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — The objective of this study was to provide important information about genetic variation in populations of the Delmarva Fox Squirrel in the context of a more general...

  4. Preliminary Report on Seaside Sparrow Population Genetics Project

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This is a preliminary report on a genetic variation study that was conducted at St. Vincent National Wildlife Refuge. Blood samples were taken from 57 Seaside...

  5. Bison Conservation Initiative : Bison Conservation Genetics Workshop : Reports and Recommendations

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — One of the first outcomes of the Department of the Interior (DOI) Bison Conservation Initiative was the Bison Conservation Genetics Workshop held in Nebraska in...

  6. Introduction to the Special Issue: Public Health Genetics and Genomics.

    Science.gov (United States)

    McWalter, Kirsty; Gaviglio, Amy

    2015-06-01

    This special issue of the Journal of Genetic Counseling is dedicated to public health genetics and genomics. The seventeen papers featured in this issue span such topics as genetic counselors in public health roles, newborn screening, population screening, ethics, and health beliefs and behaviors. In this introduction to the special issue, we review some history of public health genetics and genomics, present the Centers for Disease Control and Prevention's "10 Essential Public Health Services" with associated genetics specific recommendations and priorities, and briefly overview how each article ties into the world of public health genetics and genomics. We hope this issue encourages genetic counselors to visualize their ever expanding and important roles in public health genetics and genomics, as well as their contributions to improving population health.

  7. Isolation by distance, web service

    OpenAIRE

    Bohonak Andrew J; Jensen Jeffrey L; Kelley Scott T

    2005-01-01

    Abstract Background The population genetic pattern known as "isolation by distance" results from spatially limited gene flow and is a commonly observed phenomenon in natural populations. However, few software programs exist for estimating the degree of isolation by distance among populations, and they tend not to be user-friendly. Results We have created Isolation by Distance Web Service (IBDWS) a user-friendly web interface for determining patterns of isolation by distance. Using this site, ...

  8. PFInancial services

    Index Scriptorium Estoniae

    2002-01-01

    Briti ettevõttest International Financial Services, mis viib maailmas läbi kampaaniat PPP (Public Private Partnership) ja PFI (Private Finance Initiative) - erasektori ja avaliku sektori vahelise koostöö reklaamimiseks ja edendamiseks. Firma esindajad kohtusid Eesti ametnikega

  9. Refrigeration Servicing.

    Science.gov (United States)

    Hamilton, Donald L.; And Others

    This self-study course is designed to familiarize Marine enlisted personnel with the services required to be performed on refrigeration equipment. The course contains four study units. Each study unit begins with a general objective, which is a statement of what the student should learn from the unit. The study units are divided into numbered work…

  10. Mail Service

    CERN Multimedia

    TS-FM Group

    2004-01-01

    Tuesday 19 October 2004 Please note that the distribution and collection of mail are likely to be disrupted on Tuesday, October 19, 2004, because of traffic and other restrictions enforced on that day in connection with CERN's fiftieth anniversary celebrations. The service may be completely interrupted in certain areas. Group TS-FM, Tel. 77551

  11. PFInancial services

    Index Scriptorium Estoniae

    2002-01-01

    Briti ettevõttest International Financial Services, mis viib maailmas läbi kampaaniat PPP (Public Private Partnership) ja PFI (Private Finance Initiative) - erasektori ja avaliku sektori vahelise koostöö reklaamimiseks ja edendamiseks. Firma esindajad kohtusid Eesti ametnikega

  12. A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.

    Science.gov (United States)

    Burgess, Kelly R; Carmany, Erin P; Trepanier, Angela M

    2016-02-01

    Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.

  13. Documentation Service; Service de Documentation

    Energy Technology Data Exchange (ETDEWEB)

    Charnay, J.; Chosson, L.; Croize, M.; Ducloux, A.; Flores, S.; Jarroux, D.; Melka, J.; Morgue, D.; Mottin, C. [Inst. de Physique Nucleaire, Lyon-1 Univ., 69 - Villeurbanne (France)

    1998-12-31

    This service assures the treatment and diffusion of the scientific information and the management of the scientific production of the institute as well as the secretariat operation for the groups and services of the institute. The report on documentation-library section mentions: the management of the documentation funds, search in international databases (INIS, Current Contents, Inspects), Pret-Inter service which allows accessing documents through DEMOCRITE network of IN2P3. As realizations also mentioned are: the setup of a video, photo database, the Web home page of the institute`s library, follow-up of digitizing the document funds by integrating the CD-ROMs and diskettes, electronic archiving of the scientific production, etc 1 fig.

  14. Solving the Dial-a-Ride Problem using Genetic algorithms

    DEFF Research Database (Denmark)

    Bergvinsdottir, Kristin Berg; Larsen, Jesper; Jørgensen, Rene Munk

    service level constraints (Quality of Service). In this paper we present a genetic algorithm for solving the DARP. The algorithm is based on the classical cluster-first route-second approach, where it alternates between assigning customers to vehicles using a genetic algorithm and solving independent...... routing problems for the vehicles using a routing heuristic. The algorithm is implemented in Java and tested on publicly available data sets....

  15. Solving the Dial-a-Ride Problem using Genetic algorithms

    DEFF Research Database (Denmark)

    Bergvinsdottir, Kristin Berg; Larsen, Jesper; Jørgensen, Rene Munk

    service level constraints (Quality of Service). In this paper we present a genetic algorithm for solving the DARP. The algorithm is based on the classical cluster-first route-second approach, where it alternates between assigning customers to vehicles using a genetic algorithm and solving independent...... routing problems for the vehicles using a routing heuristic. The algorithm is implemented in Java and tested on publicly available data sets....

  16. Information Technology Service; Service Informatique

    Energy Technology Data Exchange (ETDEWEB)

    Ageron, M.; Boninchi, V.; Chartoire, M.; Combroux, A.; Giraud, N.; Jacquet, G.; Lagrange, B.; Malleret, S.; Martin, C.; Mas, J.; Morgue, M.; Ollivier, T. [Inst. de Physique Nucleaire, Lyon-1 Univ., 69 - Villeurbanne (France)

    1998-12-31

    The information technology service works out the choices concerning the information technology systems of general use in the laboratory: computers, network, peripherals, workstations, software. It intervenes at the same time in the definition of the procedures and equipment specific to the research groups. The entire data acquisition is centralized by the service. The personnel is sharing the following two large directions of activities: - management of information technology park (setup, configuration and maintenance of the materials and soft ensemble, training and assistance afforded to users); - participation in software projects either in elaboration of applications or in realization and maintenance of specific tools

  17. The genetics of immunity.

    Science.gov (United States)

    Lazzaro, Brian P; Schneider, David S

    2014-06-17

    In this commentary, Brian P. Lazzaro and David S. Schneider examine the topic of the Genetics of Immunity as explored in this month's issues of GENETICS and G3: Genes|Genomes|Genetics. These inaugural articles are part of a joint Genetics of Immunity collection (ongoing) in the GSA journals. Copyright © 2014 Lazzaro and Schneider.

  18. Ensuring the genetic diversity of potatoes

    Science.gov (United States)

    Opportunities for advances in the potato crop through genetics are great, since potato has many needs for improvement, and many related species with the traits required are available. Genebanks provide a centralized and specialized resource for providing the services of acquisition, classification, ...

  19. Telemedicine uptake among Genetics Professionals in Europe : room for expansion

    NARCIS (Netherlands)

    Otten, Ellen; Birnie, Erwin; Lucassen, Anneke M.; Ranchor, Adelita V.; Van Langen, Irene M.

    2016-01-01

    Today's economic challenges and the changing landscape of clinical genetics are forcing us to consider alternative ways of providing genetic services, to comply with budget limitations and at the same time meeting the demands of increasing patient numbers and patient-centered care delivery. Telegene

  20. Evaluation of the genetic activity of industrially produced carbon black.

    Science.gov (United States)

    Kirwin, C J; LeBlanc, J V; Thomas, W C; Haworth, S R; Kirby, P E; Thilagar, A; Bowman, J T; Brusick, D J

    1981-06-01

    Commercially produced oil furnace carbon black (Chemical Abstract Service Registry No. 1333-86-4) has been evaluated by five different assay for genetic activity. These were the Ames Salmonella typhimurium reverse mutation test, sister chromatid exchange test in CHO cells, mouse lymphoma test, cell transformation assay in C3H/10T1/2 cells, and assay for genetic effects in Drosophila melanogaster. Limited cellular toxicity was exhibited but no significant genetic activity was noted.

  1. GENETIC AND NON-GENETIC PARAMETER ESTIMATES OF DAIRY CATTLE IN ETHIOPIA: A REVIEW

    Directory of Open Access Journals (Sweden)

    A. TESFA

    2014-07-01

    Full Text Available Ethiopia is endowed with diverse ecosystems inhabited by an abundant diversity of animal, plant and microbial genetic resources due to the availability of diverse agro-ecology. The productivity of any species depends largely on their reproductive performance. Reproduction is an indicator of reproductive efficiency and the rate of genetic progress in both selection and crossbreeding programs. Reproductive performance does not usually refer to a single trait, but to a combination of many traits and is an indicator of reproductive efficiency and the rate of genetic progress. The main indicators of reproductive performance those are reported by many authors are age at first service, age at first calving, calving interval, days open and number of services per conception. The non-genetic factors like sex of calf, season, year, and parity had significant effect on reproductive performance traits. Knowledge on these factors and their influence on cattle performance are important in management and selection decisions. Development of breeding objectives and effective genetic improvement programs require knowledge of the genetic variation among economically important traits and accurate estimates of heritability, repeatability and genetic correlations of these traits. The estimates of genetic parameters are helpful in determining the method of selection to predict direct and correlated response to selection, choosing a breeding system to be adopted for future improvement as well as genetic gains. The reproductive performance of Ethiopian indigenous and exotic breeds producing in the country is low due to various environmental factors and absence of integrated record on the sector that leads a biased result and recommendations of the genetic parameter estimates. Selection and designing of breeding programs for improving the production and productivity of indigenous breed through keeping their native potentials should be based on the results obtained from

  2. Genetics of pediatric obesity.

    Science.gov (United States)

    Manco, Melania; Dallapiccola, Bruno

    2012-07-01

    Onset of obesity has been anticipated at earlier ages, and prevalence has dramatically increased worldwide over the past decades. Epidemic obesity is mainly attributable to modern lifestyle, but family studies prove the significant role of genes in the individual's predisposition to obesity. Advances in genotyping technologies have raised great hope and expectations that genetic testing will pave the way to personalized medicine and that complex traits such as obesity will be prevented even before birth. In the presence of the pressing offer of direct-to-consumer genetic testing services from private companies to estimate the individual's risk for complex phenotypes including obesity, the present review offers pediatricians an update of the state of the art on genomics obesity in childhood. Discrepancies with respect to genomics of adult obesity are discussed. After an appraisal of findings from genome-wide association studies in pediatric populations, the rare variant-common disease hypothesis, the theoretical soil for next-generation sequencing techniques, is discussed as opposite to the common disease-common variant hypothesis. Next-generation sequencing techniques are expected to fill the gap of "missing heritability" of obesity, identifying rare variants associated with the trait and clarifying the role of epigenetics in its heritability. Pediatric obesity emerges as a complex phenotype, modulated by unique gene-environment interactions that occur in periods of life and are "permissive" for the programming of adult obesity. With the advent of next-generation sequencing techniques and advances in the field of exposomics, sensitive and specific tools to predict the obesity risk as early as possible are the challenge for the next decade.

  3. Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting.

    Science.gov (United States)

    Ganne, Pratyusha; Garrioch, Robert; Votruba, Marcela

    2015-03-01

    Genetic eye pathology represents a significant percentage of the causes of blindness in industrialized countries. This study explores the level of understanding and perceptions of genetics and inherited eye diseases and the attitudes to genetic testing and gene therapy. The study was conducted in two parts. Participant groups included were: undergraduate students of optometry, primary eye care professionals and members of the general public. A preliminary study aimed to understand perceptions and to explore the level of knowledge about genetics in general, eye genetics and gene therapy. A second survey was designed to explore attitudes to genetic testing and gene therapy. The majority of participants (82%) perceived genetics as an important science. However, none of them showed a high level of understanding of genetics and inherited eye diseases. Undergraduate students and primary eye care professionals were better informed about inherited eye diseases than the general public (p = 0.001). The majority (80%) across all three groups had a positive attitude to genetic testing and gene therapy. There was a lack of knowledge about the genetic services available among all groups of participants. This calls for serious thinking about the level of dissemination of information about genetics and inherited eye diseases. It shows a broadly supportive attitude to genomic medicine among the public. Improving public awareness and education in inherited eye diseases can improve the utility of genetic testing and therapy.

  4. Computing Services

    Science.gov (United States)

    2008-08-08

    Speed in delivering capacity to the datacenter floor – Managed services partnerships • ITIL -based processes 4 Virtualization & Application Stacking...House” Communications 129 450 1140 482 232 117 MAINFRAME ROUTERS SWITCHES SECURITY MANAGEMENT STORAGE Communication Devices by Function Terminal...to protect and enforce security boundaries • Managing content as an extension of the glass house (e.g., GCDS) Communication Provider(s) Value Added

  5. Dosimetry Service

    CERN Multimedia

    Dosimetry Service

    2005-01-01

    Please remember to read your dosimeter at least once every month. A regular read-out is indispensable to ensure periodic monitoring of your personal dose. You must read your dosimeter even if you have not visited the controlled areas. Film badges are no longer valid at CERN and holders of film badges are no longer allowed to enter the controlled radiation areas or work with a source. Dosimetry Service Tel. 72155 http://cern.ch/rp-dosimetry

  6. Cross-border reprogenetic services.

    Science.gov (United States)

    Couture, V; Drouin, R; Tan, S-L; Moutquin, J-M; Bouffard, C

    2015-01-01

    The purpose of this review is to synthesize the current knowledge on the international movement of patients and biopsied embryo cells for pre-implantation genetic diagnosis and its different applications. Thus far, few attempts have been made to identify the specific nature of this phenomenon called 'cross-border reprogenetic services'. There is scattered evidence, both empirical and speculative, suggesting that these services raise major issues in terms of service provision, risks for patients and the children-to-come, the legal liabilities of physicians, as well as social justice. To compile this evidence, this review uses the narrative overview protocol combined with thematic analysis. Five major themes have emerged from the literature at the conjunction of cross-border treatments and reprogenetics: 'scope', 'scale', 'motivations', 'concerns', and 'governance'. Similar themes have already been observed in the case of other medical tourism activities, but this review highlights their singularity with reprogenetic services. It emphasizes the diagnostic and autologous feature of reprogenetics, the constant risk of misdiagnosis, the restriction on certain tests for medically controversial conditions, and the uncertain accessibility of genetic counseling in cross-border settings. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Genetic engineering, medicine and medical genetics.

    Science.gov (United States)

    Motulsky, A G

    1984-01-01

    The impact of DNA technology in the near future will be on the manufacture of biologic agents and reagents that will lead to improved therapy and diagnosis. The use of DNA technology for prenatal and preclinical diagnosis in genetic diseases is likely to affect management of genetic diseases considerably. New and old questions regarding selective abortion and the psychosocial impact of early diagnosis of late appearing diseases and of genetic susceptibilities are being raised. Somatic therapy with isolated genes to treat disease has not been achieved. True germinal genetic engineering is far off for humans but may find applications in animal agriculture.

  8. Using Service Scenarios to Model Business Services

    DEFF Research Database (Denmark)

    Bækgaard, Lars

    The purpose of the paper is to present and evaluate the notion of service scenarios. A service is work done by a service executor in interaction with a service consumer. A service scenario is a model of a service system and the roles that are played by the actors participating and interacting dur...... of a case study in a public library. The case study indicates that service systems should be understood as socio-technical systems in which service executors and service consumers co-create value in mutual interaction with each other and with a set of shared resources....

  9. Service registry design: an information service approach

    NARCIS (Netherlands)

    Ferreira Pires, Luis; Oostrum, van Arjen; Wijnhoven, Fons; Wang, J.

    2010-01-01

    A service registry is a Service-Oriented Architecture (SOA) component that keeps a ‘catalogue’ of available services. It stores service specifications so that these specifications can be found by potential users. Discussions on the design of service registries currently focus on technical issues, wh

  10. Service registry design: an information service approach

    NARCIS (Netherlands)

    Ferreira Pires, Luis; Wang, J.; van Oostrum, Arjen; Wijnhoven, Alphonsus B.J.M.

    2010-01-01

    A service registry is a Service-Oriented Architecture (SOA) component that keeps a ‘catalogue’ of available services. It stores service specifications so that these specifications can be found by potential users. Discussions on the design of service registries currently focus on technical issues,

  11. The service Ouroboros: Designing personas service cycles

    DEFF Research Database (Denmark)

    Gudiksen, Sune Klok; Brandt, Eva

    2014-01-01

    Many companies investigate new business opportunities in a turn from product to service design. As service offerings expand over time and space, such notions as ‘customer journey’ or ‘service blueprint’ have been suggested to grasp and design the nature of the emergent services. However, we find ...... various customers’´service cycles....

  12. Topology control based on quantum genetic algorithm in sensor networks

    Institute of Scientific and Technical Information of China (English)

    SUN Lijuan; GUO Jian; LU Kai; WANG Ruchuan

    2007-01-01

    Nowadays,two trends appear in the application of sensor networks in which both multi-service and quality of service (QoS)are supported.In terms of the goal of low energy consumption and high connectivity,the control on topology is crucial.The algorithm of topology control based on quantum genetic algorithm in sensor networks is proposed.An advantage of the quantum genetic algorithm over the conventional genetic algorithm is demonstrated in simulation experiments.The goals of high connectivity and low consumption of energy are reached.

  13. Community engagement and education: addressing the needs of South Asian families with genetic disorders.

    Science.gov (United States)

    Khan, Nasaim; Kerr, Gifford; Kingston, Helen

    2016-10-01

    Consanguineous marriage is common among the South Asian heritage community in the UK. While conferring social and cultural benefits, consanguinity is associated with an increased risk of autosomal recessive disorders and an increase in childhood death and disability. We have previously developed a genetic service to address the needs of this community. We report the extension of this service to include community-based initiatives aimed at promoting understanding of genetic issues related to consanguinity and improving access to genetic services. Our approach was to develop integrated clinical, educational and community engagement initiatives that would be sustainable on a long-term basis. The service provided for South Asian families by a specialist genetic counsellor was extended, and a series of genetics education and awareness sessions were provided for a diverse range of frontline healthcare workers. Two community genetic outreach worker posts were established to facilitate the engagement of the local South Asian population with genetics. The education and awareness sessions helped address the lack of genetic knowledge among primary health care professionals and community workers. Engagement initiatives by the genetic outreach worker raised awareness of genetic issues in the South Asian community and families affected by autosomal recessive disorders. All three elements of the extended service generated positive feedback. A three-stranded approach to addressing the needs of consanguineous families affected by autosomal recessive disorders as recommended by the World Health Organisation is suggested to be an acceptable, effective and sustainable approach to delivery of service in the UK.

  14. Basic genetics for dermatologists

    Directory of Open Access Journals (Sweden)

    Muthu Sendhil Kumaran

    2013-01-01

    Full Text Available During the past few decades, advances in the field of molecular genetics have enriched us in understanding the pathogenesis of diseases, their identification, and appropriate therapeutic interventions. In the last 20 years, genetic basis of more than 350 monogenic skin diseases have been elucidated and is counting. The widespread use of molecular genetics as a tool in diagnosis is not practiced routinely due to genetic heterogenicity, limited access and low sensitivity. In this review, we have presented the very basics of genetics so as to enable dermatologists to have working understanding of medical genetics.

  15. Genetic diversity in aspen and its relation to arthropod abundance.

    Science.gov (United States)

    Zhang, Chunxia; Vornam, Barbara; Volmer, Katharina; Prinz, Kathleen; Kleemann, Frauke; Köhler, Lars; Polle, Andrea; Finkeldey, Reiner

    2014-01-01

    The ecological consequences of biodiversity have become a prominent public issue. Little is known on the effect of genetic diversity on ecosystem services. Here, a diversity experiment was established with European and North American aspen (Populus tremula, P. tremuloides) planted in plots representing either a single deme only or combinations of two, four and eight demes. The goals of this study were to explore the complex inter- and intraspecific genetic diversity of aspen and to then relate three measures for diversity (deme diversity, genetic diversity determined as Shannon index or as expected heterozygosity) to arthropod abundance. Microsatellite and AFLP markers were used to analyze the genetic variation patterns within and between the aspen demes and deme mixtures. Large differences were observed regarding the genetic diversity within demes. An analysis of molecular variance revealed that most of the total genetic diversity was found within demes, but the genetic differentiation among demes was also high. The complex patterns of genetic diversity and differentiation resulted in large differences of the genetic variation within plots. The average diversity increased from plots with only one deme to plots with two, four, and eight demes, respectively and separated plots with and without American aspen. To test whether intra- and interspecific diversity impacts on ecosystem services, arthropod abundance was determined. Increasing genetic diversity of aspen was related to increasing abundance of arthropods. However, the relationship was mainly driven by the presence of American aspen suggesting that species identity overrode the effect of intraspecific variation of European aspen.

  16. Are Services Functions?

    OpenAIRE

    Sumita, Kouhei; Kitamura, Yoshinobu; Sasajima, Munehiko; Mizoguchi, Riichiro

    2012-01-01

    This paper proposes an ontological definition of services. Such a definition is one of the fundamentals of service research. The understanding of essentialities of the notion of services as its definition, which differentiates services from the other notions, contributes proper modeling and conceptualization of services in services design and knowledge management of services. The existing definitions and characteristics of services, however, cannot differentiate services from other concepts: ...

  17. 76 FR 5780 - Determination of Regulated Status of Alfalfa Genetically Engineered for Tolerance to the...

    Science.gov (United States)

    2011-02-02

    ... Animal and Plant Health Inspection Service Determination of Regulated Status of Alfalfa Genetically... regulated status of alfalfa genetically engineered for tolerance to the herbicide glyphosate based on APHIS... decision and determination on the petition regarding the regulated status of alfalfa genetically engineered...

  18. 76 FR 18227 - Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee; Notice of...

    Science.gov (United States)

    2011-04-01

    ... HUMAN SERVICES Food and Drug Administration Molecular and Clinical Genetics Panel of the Medical Devices... Molecular and Clinical Genetics Panel (the panel) of the Medical Devices Advisory Committee that published... meeting of the Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee, and the...

  19. The Service Utility Model in Service Management

    Institute of Scientific and Technical Information of China (English)

    LI Yan; ZHOU Wen-an; SONG Jun-de

    2005-01-01

    Aiming to provide a measurable service Quality of Service (QoS) evaluating method for service inventory management, this paper proposes a new mobile Service Utility Model (SUM), considers the service and business layer elements into the service utility influence profile, and proposes an self-adaptive service inventory management algorithm as a QoS control scheme based on SUM. It can be concluded from the simulation result that the service inventory utility can be fully reflected by SUM and the whole system efficiency is greatly increased by using SUM as the adaptive rule.

  20. Genetics Home Reference

    Science.gov (United States)

    Skip Navigation Bar Home Current Issue Past Issues Genetics Home Reference Past Issues / Spring 2007 Table of ... of this page please turn Javascript on. The Genetics Home Reference (GHR) Web site — ghr.nlm.nih. ...

  1. Genetics of Hearing Loss

    Science.gov (United States)

    ... in Latin America Information For... Media Policy Makers Genetics of Hearing Loss Language: English Español (Spanish) Recommend ... of hearing loss in babies is due to genetic causes. There are also a number of things ...

  2. Frontotemporal Dementia: Genetics

    Science.gov (United States)

    ... Calendar of Events Fundraising Events Conferences Press Releases Genetics of FTD After receiving a diagnosis of FTD ... that recent advances in science have brought the genetics of FTD into much better focus. In 2012, ...

  3. Genetic Disease Foundation

    Science.gov (United States)

    ... mission to help prevent, manage and treat inherited genetic diseases. View our latest News Brief here . You can ... contributions to the diagnosis, prevention and treatment of genetic diseases. Learn how advances at Mount Sinai have impacted ...

  4. Genetic Brain Disorders

    Science.gov (United States)

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  5. Software For Genetic Algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steve E.

    1992-01-01

    SPLICER computer program is genetic-algorithm software tool used to solve search and optimization problems. Provides underlying framework and structure for building genetic-algorithm application program. Written in Think C.

  6. Genetics Home Reference

    Science.gov (United States)

    ... changes Browse A–Z Chromosomes & mtDNA Autosomes, sex chromosomes, and mitochondrial DNA (mtDNA) Browse Help Me Understand Genetics Learn about the basics of human genetics Browse New & Updated Pages New Pages Omenn ...

  7. Genetically engineered foods

    Science.gov (United States)

    Bioengineered foods; GMOs; Genetically modified foods ... helps speed up the process of creating new foods with desired traits. The possible benefits of genetic engineering include: More nutritious food Tastier food Disease- and ...

  8. Genetics of Parkinson's disease

    National Research Council Canada - National Science Library

    Klein, Christine; Westenberger, Ana

    2012-01-01

    Fifteen years of genetic research in Parkinson's disease (PD) have led to the identification of several monogenic forms of the disorder and of numerous genetic risk factors increasing the risk to develop PD...

  9. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  10. Genetics Home Reference: hyperprolinemia

    Science.gov (United States)

    ... can also occur with other conditions, such as malnutrition or liver disease. In particular, individuals with conditions ... Topic: Amino Acid Metabolism Disorders Health Topic: Genetic Brain Disorders Health Topic: Newborn Screening Genetic and Rare ...

  11. Genetics Home Reference: hypermethioninemia

    Science.gov (United States)

    ... C. Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  12. A success of a genetics educational intervention for nursing and dietetic students: A model for incorporating genetics into nursing and allied health curricula.

    Science.gov (United States)

    Cragun, Deborah L; Couch, Sarah C; Prows, Cynthia A; Warren, Nancy S; Christianson, Carol A

    2005-01-01

    Allied health care professionals and nurses provide genetic-related client services, such as eliciting family medical history information and discussing the genetic component of health conditions. However, these professionals report a lack of confidence in their ability to perform genetic services and have little formal education in genetics. A barrier to incorporating genetics into allied health curricula includes the limited flexibility to expand curricula. This barrier was addressed by incorporating a Web-based tutorial on basic genetics and a lecture on the genetics of diabetes into preexisting undergraduate nutrition courses for nursing and dietetic students. The vast majority of students enrolled in these required courses participated in the intervention. Most participants agreed that genetics is important to their future career. Following the intervention, students' knowledge of genetics and confidence in their ability to provide genetic-related services increased significantly. Despite the short-term success and positive student evaluations, a single educational intervention does not appear to be sufficient for students to become proficient in performing the recommended genetic competencies for all health care professionals. Recommendations and resources for incorporating genetics into allied health curricula are included.

  13. The genetic background of Southern Iranian couples before marriage

    Science.gov (United States)

    Nariman, A; Sobhan, MR; Savaei, M; Aref-Eshghi, E; Nourinejad, R; Manoochehri, M; Ghahremani, S; Daliri, F

    2016-01-01

    Abstract Genetic service for couples plays an increasingly important role in diagnosis and risk management. This study investigated the status of consanguinity and the medical genetic history (effectiveness and coverage of medical genetic services) in couples residing in a city in southern Iran. We questioned couples who were referred to Behbahan Marital Counseling Center, Behbahan, Iran, during the period from January to November 2014, to obtain information on consanguinity, disease history, and previous referral to a medical genetics center. For the collected data was obtained descriptive statistics with STATA 11.0 software. A total of 500 couples were questioned. Mean age was 24.8 ± 5.2 years. Almost one quarter (23.4%) of the couples were consanguineous. Consanguinity was almost twice as common in rural areas as in urban areas (33.9 vs. 19.2%, p = 0.001). Only a few couples (~3.0%) had ever been referred for genetic counseling. The main reason for previous genetic counseling was consanguinity (85.7%). The majority of the participants (96.3%) had never been tested for any genetic conditions. Our findings suggest that only a small proportion of couples in Khuzestan Province, Iran (Behbahan City) were receiving adequate genetics care. This may reflect the limited accessibility of such services, and inadequate awareness and education among the care providers. PMID:28289591

  14. Genetics in psychiatry.

    Science.gov (United States)

    Umesh, Shreekantiah; Nizamie, Shamshul Haque

    2014-04-01

    Today, psychiatrists are focusing on genetics aspects of various psychiatric disorders not only for a future classification of psychiatric disorders but also a notion that genetics would aid in the development of new medications to treat these disabling illnesses. This review therefore emphasizes on the basics of genetics in psychiatry as well as focuses on the emerging picture of genetics in psychiatry and their future implications.

  15. Behavioral genetics and taste

    Directory of Open Access Journals (Sweden)

    Bachmanov Alexander A

    2007-09-01

    Full Text Available Abstract This review focuses on behavioral genetic studies of sweet, umami, bitter and salt taste responses in mammals. Studies involving mouse inbred strain comparisons and genetic analyses, and their impact on elucidation of taste receptors and transduction mechanisms are discussed. Finally, the effect of genetic variation in taste responsiveness on complex traits such as drug intake is considered. Recent advances in development of genomic resources make behavioral genetics a powerful approach for understanding mechanisms of taste.

  16. Peking University Center of Medical Genetics (PUCMG): a comprehensive medical genetics program in China%中国医学遗传综合项目基地--北京大学医学遗传中心

    Institute of Scientific and Technical Information of China (English)

    Nanbert ZHONG

    2006-01-01

    @@ Medical genetics, as an important component in the advanced medical practice, has touched in variant aspects of clinical aspects. Globally, in both developed and developing countries, medical genetics is playing more and more important roles in dealing with the public healthcare. Being a medical specialty performing diagnosis and intervention for genetic disorders, the medical genetics has bridged the clinical practice and basic medical sciences. It is derived, but different, from human genetics. The difference of which is that the medical genetics provides clinical service for medical professionals and patients; however, the human genetics focuses on investigation of genetic principles.

  17. National Plant Germplasm System: Critical Role of Customer Service

    Science.gov (United States)

    The National Plant Germplasm System (NPGS) conserves plant genetic resources, not only for use by future generations, but for immediate use by scientists and educators around the world. With a great deal of interaction between genebank curators and users of plant genetic resources, customer service...

  18. Cancer genetics and genomics: essentials for oncology nurses.

    Science.gov (United States)

    Boucher, Jean; Habin, Karleen; Underhill, Meghan

    2014-06-01

    Cancer genetics and genomics are rapidly evolving, with new discoveries emerging in genetic mutations, variants, genomic sequencing, risk-reduction methods, and targeted therapies. To educate patients and families, state-of-the-art care requires nurses to understand terminology, scientific and technological advances, and pharmacogenomics. Clinical application of cancer genetics and genomics involves working in interdisciplinary teams to properly identify patient risk through assessing family history, facilitating genetic testing and counseling services, applying risk-reduction methods, and administering and monitoring targeted therapies.

  19. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing…

  20. Report: Human cancer genetics

    Institute of Scientific and Technical Information of China (English)

    LI Marilyn; ALBERTSON Donna

    2006-01-01

    The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.

  1. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we

  2. Human cancer genetics*

    OpenAIRE

    2006-01-01

    The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.

  3. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing…

  4. Prenatal screening and genetics

    NARCIS (Netherlands)

    Alderson, P.; Aro, A.R.; Dragonas, T.; Ettorre, E.; Hemminki, E.; Jalinoja, P.; Santalahti, P.; Tijmstra, T.

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we exami

  5. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we ex...

  6. GENETICS AND GENOMICS OF PLANT GENETIC RESOURCES

    Directory of Open Access Journals (Sweden)

    Börner A.

    2012-08-01

    Full Text Available Plant genetic resources play a major role for global food security. The most significant and widespread mean of conserving plant genetic resources is ex situ conservation. Most conserved accessions are kept in specialized facilities known as genebanks maintained by public or private institutions. World-wide 7.4 million accessions are stored in about 1,500 ex situ genebanks.In addition, series of genetic stocks including chromosome substitution lines, alloplasmic lines, single chromosome recombinant lines, introgression lines, etc. have been created. Analysing these genetic stocks many qualitative and quantitative inherited traits were associated to certain chromosomes, chromosome arms or introgressed segments. Today, genetic stocks are supplemented by a huge number of genotyped mapping populations. Beside progenies of bi-parental crosses (doubled haploid lines, recombinant inbred lines, etc. panels for association mapping were created recently.In our presentation we give examples for the successful utilisation of genebank accessions and genetic stocks for genetic and genomic studies. Using both segregation and association mapping approaches, data on mapping of loci/marker trait associations for a range of different traits are presented.

  7. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome.

  8. Dosimetry Service

    CERN Multimedia

    Dosimetry Service

    2005-01-01

    Please remember to read your dosimeter every month at least once and preferably during the first week. A regular read-out is indispensable in order to ensure a periodic monitoring of the personal dose. You should read your dosimeter even if you have not visited the controlled areas. If you still have the old dosimeter (film badge), please send it immediately for evaluation to us (Bdg 24 E-011). After January 2005 there will be no developing process for the old film system. Information for Contractors: Please remember also to bring the form ‘Confirm Reception of a CERN Dosimeter' signed with ‘Feuille d'enregistrement du CERN'. Without these forms the dosimeter cannot be assigned. Thank you for your cooperation. Dosimetry Service Tel 767 2155 http://cern.ch/rp-dosimetry

  9. Rehabilitation and Prosthetic Services

    Science.gov (United States)

    ... Service » Prosthetic & Sensory Aids Service (PSAS) Rehabilitation and Prosthetic Services Menu Menu Rehabilitation and Prosthetics Rehabilitation and ... Enter ZIP code here Enter ZIP code here Prosthetic & Sensory Aids Service (PSAS) Our Mission The mission ...

  10. A large health system's approach to utilization of the genetic counselor CPT® 96040 code.

    Science.gov (United States)

    Gustafson, Shanna L; Pfeiffer, Gail; Eng, Charis

    2011-12-01

    : In 2007, CPT® code 96040 was approved for genetic counseling services provided by nonphysician providers. Because of professional recognition and licensure limitations, experiences in direct billing by genetic counselors for these services are limited. A minority of genetics clinics report using this code because of limitations, including perceived denial of the code and confusion regarding compliant use of this code. We present results of our approach to 96040 billing for genetic counseling services under a supervising physicians National Provider ID number in a strategy for integration of genetics services within nongenetics specialty departments of a large academic medical center. : The 96040 billing encounters were tracked for a 14-month period and analyzed for reimbursement by private payers. Association of denial by diagnosis code or specialty of genetics service was statistically analyzed. Descriptive data regarding appointment availability are also summarized. : Of 350 encounters January 2008 to February 2009, 289 (82%) were billed to private payers. Of these, 62.6% received some level of reimbursement. No association was seen for denial when analyzed by the diagnosis code or by genetics focus. Through this model, genetics appointment availability minimally doubled. : Using 96040 allowed for expanding access to genetics services, increased appointment availability, and was successful in obtaining reimbursement for more than half of encounters billed.

  11. Massively Parallel Genetics.

    Science.gov (United States)

    Shendure, Jay; Fields, Stanley

    2016-06-01

    Human genetics has historically depended on the identification of individuals whose natural genetic variation underlies an observable trait or disease risk. Here we argue that new technologies now augment this historical approach by allowing the use of massively parallel assays in model systems to measure the functional effects of genetic variation in many human genes. These studies will help establish the disease risk of both observed and potential genetic variants and to overcome the problem of "variants of uncertain significance." Copyright © 2016 by the Genetics Society of America.

  12. How Is Genetic Testing Done?

    Science.gov (United States)

    ... Testing How is genetic testing done? How is genetic testing done? Once a person decides to proceed with ... is called informed consent . For more information about genetic testing procedures: The National Society of Genetic Counselors offers ...

  13. Ethics, policy, and educational issues in genetic testing.

    Science.gov (United States)

    Williams, Janet K; Skirton, Heather; Masny, Agnes

    2006-01-01

    Analyze ethics, public policy, and education issues that arise in the United States (US) and the United Kingdom (UK) when genomic information acquired as a result of genetic testing is introduced into healthcare services. Priorities in the Ethical, Legal, and Social Issues Research Program include privacy, integration of genetic services into clinical health care, and educational preparation of the nursing workforce. These constructs are used to examine health policies in the US and UK, and professional interactions of individuals and families with healthcare providers. Individual, family, and societal goals may conflict with current healthcare practices and policies when genetic testing is done. Current health policies do not fully address these concerns. Unresolved issues include protection of privacy of individuals while considering genetic information needs of family members, determination of appropriate monitoring of genetic tests, addressing genetic healthcare discrepancies, and assuring appropriate nursing workforce preparation. Introduction of genetic testing into health care requires that providers are knowledgeable regarding ethical, policy, and practice issues in order to minimize risk for harm, protect the rights of individuals and families, and consider societal context in the management of genetic test results. Understanding of these issues is a component of genetic nursing competency that must be addressed at all levels of nursing education.

  14. BPA genetic monitoring - BPA Genetic Monitoring Project

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Initiated in 1989, this study monitors genetic changes associated with hatchery propagation in multiple Snake River sub-basins for Chinook salmon and steelhead. We...

  15. Molecular genetics made simple

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2012-07-01

    Full Text Available Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.

  16. Genetic interest assessment

    Science.gov (United States)

    Doughney, Erin

    Genetics is becoming increasingly integrated into peoples' lives. Different measures have been taken to try and better genetics education. This thesis examined undergraduate students at the University of North Texas not majoring in the life sciences interest in genetic concepts through the means of a Likert style survey. ANOVA analysis showed there was variation amongst the interest level in different genetic concepts. In addition age and lecture were also analyzed as contributing factors to students' interest. Both age and lecture were evaluated to see if they contributed to the interest of students in genetic concepts and neither showed statistical significance. The Genetic Interest Assessment (GIA) serves to help mediate the gap between genetic curriculum and students' interest.

  17. Rewriting the Genetic Code.

    Science.gov (United States)

    Mukai, Takahito; Lajoie, Marc J; Englert, Markus; Söll, Dieter

    2017-09-08

    The genetic code-the language used by cells to translate their genomes into proteins that perform many cellular functions-is highly conserved throughout natural life. Rewriting the genetic code could lead to new biological functions such as expanding protein chemistries with noncanonical amino acids (ncAAs) and genetically isolating synthetic organisms from natural organisms and viruses. It has long been possible to transiently produce proteins bearing ncAAs, but stabilizing an expanded genetic code for sustained function in vivo requires an integrated approach: creating recoded genomes and introducing new translation machinery that function together without compromising viability or clashing with endogenous pathways. In this review, we discuss design considerations and technologies for expanding the genetic code. The knowledge obtained by rewriting the genetic code will deepen our understanding of how genomes are designed and how the canonical genetic code evolved.

  18. Thinking positively: The genetics of high intelligence.

    Science.gov (United States)

    Shakeshaft, Nicholas G; Trzaskowski, Maciej; McMillan, Andrew; Krapohl, Eva; Simpson, Michael A; Reichenberg, Avi; Cederlöf, Martin; Larsson, Henrik; Lichtenstein, Paul; Plomin, Robert

    2015-01-01

    High intelligence (general cognitive ability) is fundamental to the human capital that drives societies in the information age. Understanding the origins of this intellectual capital is important for government policy, for neuroscience, and for genetics. For genetics, a key question is whether the genetic causes of high intelligence are qualitatively or quantitatively different from the normal distribution of intelligence. We report results from a sibling and twin study of high intelligence and its links with the normal distribution. We identified 360,000 sibling pairs and 9000 twin pairs from 3 million 18-year-old males with cognitive assessments administered as part of conscription to military service in Sweden between 1968 and 2010. We found that high intelligence is familial, heritable, and caused by the same genetic and environmental factors responsible for the normal distribution of intelligence. High intelligence is a good candidate for "positive genetics" - going beyond the negative effects of DNA sequence variation on disease and disorders to consider the positive end of the distribution of genetic effects.

  19. Molecular Population Genetics

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-01-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. PMID:28270526

  20. Molecular Population Genetics.

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-03-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. Copyright © 2017 Casillas and Barbadilla.

  1. The service Ouroboros: Designing personas service cycles

    DEFF Research Database (Denmark)

    Gudiksen, Sune Klok; Brandt, Eva

    2014-01-01

    Many companies investigate new business opportunities in a turn from product to service design. As service offerings expand over time and space, such notions as ‘customer journey’ or ‘service blueprint’ have been suggested to grasp and design the nature of the emergent services. However, we find...... that there is room for improve ment on two levels. First, customer journeys and service blueprint tools could benefit from an empathic customer understanding; that is the design of customer - specific services. Secondly, the existing customer journey and service blueprint tools are less concerned with the cyclic...... nature of services,by which we mean the dynamics of a customer relationship and its development over time. We report findings from collaborative workshops, in which we challenged two companies to try a new concept and tool we call ‘The service Ouroboros’. We suggest it as a more appropriate way to design...

  2. Forest genetic resources to support global bioeconomy

    Directory of Open Access Journals (Sweden)

    Saša Orlović

    2015-01-01

    Full Text Available A biobased economy implies sustainable and effective use of the biomass. This includes new products from forestry. The sustainable production, use, consumption and waste management of biomass all contribute to a bioeconomy (The European Bioeconomy in 2030. In the context of bioeconomy the conservation of forest genetic resources assumes a key significance in overcoming global challenges such as climate change. Forests are expected to play a key role in climate change mitigation, but they will only be able to fulfil that role if the trees themselves are able to survive and adapt to changing climate conditions. Genetic diversity provides the fundamental basis for the evolution of forest tree species and for their adaptation to change. The enormous range of goods and services provided by trees and forests is both a function of and testimony to the genetic variability contained within them.  Conserving forest  genetic  resources  is  therefore  vital, as  they  constitute  a  unique  and  irreplaceable resource for the future, including for sustainable economic growth and progress and environmental adaption (The State of the Worlds Forest Genetic Resources 2014.Previous research of population characteristics and the effects of natural and artificial selection on the genetic structure of populations contribute to the conservation and enhancement of the gene pool of the native tree species. The balance model of the population genetic structure reveals the new properties of the populations and requires further investigations, especially of the relations of subpopulations, half-sib families and organisms and the effect of variable factors of the environment, on the exchange of genetic material within natural and cultural populations.Being of national and international significance, these resources require intensive protection and enhancement in situ and ex situ. In this paper a general introduction is given to conservation of forest genetic

  3. Living in a Genetic World: How Learning About Interethnic Genetic Similarities and Differences Affects Peace and Conflict.

    Science.gov (United States)

    Kimel, Sasha Y; Huesmann, Rowell; Kunst, Jonas R; Halperin, Eran

    2016-05-01

    Information about the degree of one's genetic overlap with ethnic outgroups has been emphasized in genocides, is frequently learned about through media reporting, and is increasingly being accessed via personal genetic testing services. However, the consequence of learning about whether your own ethnic group is either genetically related to or genetically distinct from a disliked ethnic group remains unknown. Across four experiments, using diverse samples, measures and contexts, we demonstrate that altering perceptions of genetic overlap between groups in conflict--in this case Arabs and Jews--impacts factors that are directly related to interethnic hostility (e.g., aggressive behaviors, support of conflict-related policies). Our findings indicate that learning about the genetic difference between oneself and an ethnic outgroup may contribute to the promotion of violence, whereas learning about the similarities may be a vital step toward fostering peace in some contexts. Possible interventions and implications are discussed. © 2016 by the Society for Personality and Social Psychology, Inc.

  4. Stakeholder perspectives of wood-pasture ecosystem services

    DEFF Research Database (Denmark)

    Garrido, Pablo; Elbakidze, Marine; Angelstam, Per;

    2017-01-01

    respondents showed more appreciation for regulating and supporting services, which included biodiversity conservation and climate regulation. Private and public sector respondents appreciated provisioning services more, whereas the civil sector mentioned supporting and regulating services more. For instance......, water regulation was only mentioned by civil and public sector respondents, while genetic resource preservation was only expressed by the private sector. All sectors noted cultural services as key ES. We discuss most mentioned ES by respondents, the co-production nature of ES in wood-pastures, as well...... as cultural services as key ES of dehesas in coupled social-ecological systems. We conclude with policy recommendations drawn from the insights of this study....

  5. Genetic Susceptibility to Atherosclerosis

    Directory of Open Access Journals (Sweden)

    Sanja Kovacic

    2012-01-01

    Full Text Available Atherosclerosis is a complex multifocal arterial disease involving interactions of multiple genetic and environmental factors. Advances in techniques of molecular genetics have revealed that genetic ground significantly influences susceptibility to atherosclerotic vascular diseases. Besides further investigations of monogenetic diseases, candidate genes, genetic polymorphisms, and susceptibility loci associated with atherosclerotic diseases have been identified in recent years, and their number is rapidly increasing. This paper discusses main genetic investigations fields associated with human atherosclerotic vascular diseases. The paper concludes with a discussion of the directions and implications of future genetic research in arteriosclerosis with an emphasis on prospective prediction from an early age of individuals who are predisposed to develop premature atherosclerosis as well as to facilitate the discovery of novel drug targets.

  6. Genetic Pathways to Insomnia

    Directory of Open Access Journals (Sweden)

    Mackenzie J. Lind

    2016-12-01

    Full Text Available This review summarizes current research on the genetics of insomnia, as genetic contributions are thought to be important for insomnia etiology. We begin by providing an overview of genetic methods (both quantitative and measured gene, followed by a discussion of the insomnia genetics literature with regard to each of the following common methodologies: twin and family studies, candidate gene studies, and genome-wide association studies (GWAS. Next, we summarize the most recent gene identification efforts (primarily GWAS results and propose several potential mechanisms through which identified genes may contribute to the disorder. Finally, we discuss new genetic approaches and how these may prove useful for insomnia, proposing an agenda for future insomnia genetics research.

  7. Genetic counseling training in the Philippines.

    Science.gov (United States)

    Laurino, Mercy Ygona; Padilla, Carmencita David

    2013-12-01

    The recently established Master of Science in Genetic Counseling (MSGC) program serves a vital role in implementing and expanding genetic counseling services in the Philippines. Currently, only eight clinical geneticists practice in the Philippines, a country of approximately 94 million people, which yields a clinical-geneticist-to-population-density ratio of 1:11,750,000. The MSGC program was created to train health care providers to become crucial members of medical genetics teams being formed to meet increasing patient and healthcare provider demands. In 2011, the Board of Regents approved our proposed curriculum at the Department of Pediatrics College of Medicine, University of the Philippines Manila. As we relate how the Philippines began its efforts to implement the program and attempted to overcome the challenges the program faced, we hope we can provide an example to those interested in creating a similar MSGC program in other low-income and middle-income countries.

  8. PCR in forensic genetics

    DEFF Research Database (Denmark)

    Morling, Niels

    2009-01-01

    Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...... and more advanced, special investigations in cases concerning crime, paternity, relationship, disaster victim identification etc. The present review gives an update on the use of DNA investigations in forensic genetics....

  9. Genetics of stroke

    OpenAIRE

    Guo, Jin-Min; Liu, Ai-Jun; Su, Ding-Feng

    2010-01-01

    Stroke is the second most common cause of death and the most common cause of disability in developed countries. Stroke is a multi-factorial disease caused by a combination of environmental and genetic factors. Numerous epidemiologic studies have documented a significant genetic component in the occurrence of strokes. Genes encoding products involved in lipid metabolism, thrombosis, and inflammation are believed to be potential genetic factors for stroke. Although a large group of candidate ge...

  10. Genetics of mental retardation

    OpenAIRE

    Ahuja A; Thapar Anita; Owen M

    2005-01-01

    Mental retardation can follow any of the biological, environmental and psychological events that are capable of producing deficits in cognitive functions. Recent advances in molecular genetic techniques have enabled us to understand more about the molecular basis of several genetic syndromes associated with mental retardation. In contrast, where there is no discrete cause, the interplay of genetic and environmental influences remains poorly understood. This article presents a critical review ...

  11. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille

    2012-01-01

    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...

  12. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  13. Genetics Home Reference: abetalipoproteinemia

    Science.gov (United States)

    ... Betalipoprotein Deficiency Disease Congenital betalipoprotein deficiency syndrome Microsomal Triglyceride Transfer Protein Deficiency Disease Related Information How are genetic conditions and genes ...

  14. Service co-innovation

    DEFF Research Database (Denmark)

    Henten, Anders; Sundbo, Jon; Sundbo, Donna

    of studies of the degree of satisfaction of the users with the services in the service encounters and studies that examine service innovation processes. The paper is based on research conducted in 21 service delivery situations in as many service companies. Drivers of and barriers to encounterbased service......This paper examines the factors affecting the innovativeness of service encounters. The assumption is that a considerable share of innovations in service industries is initiated in the service encounters. The theoretical foundation of this paper builds on a combination of research tradition...

  15. Service co-innovation

    DEFF Research Database (Denmark)

    Henten, Anders; Sundbo, Jon; Sundbo, Donna

    This paper examines the factors affecting the innovativeness of service encounters. The assumption is that a considerable share of innovations in service industries is initiated in the service encounters. The theoretical foundation of this paper builds on a combination of research tradition...... of studies of the degree of satisfaction of the users with the services in the service encounters and studies that examine service innovation processes. The paper is based on research conducted in 21 service delivery situations in as many service companies. Drivers of and barriers to encounterbased service...... innovation and a model are presented. The conclusion is that employees are the core factor in connecting customers with the innovating organization....

  16. Genetic Programming and Genetic Algorithms for Propositions

    Directory of Open Access Journals (Sweden)

    Nabil M. HEWAHI

    2012-01-01

    Full Text Available In this paper we propose a mechanism to discover the compound proposition solutions for a given truth table without knowing the compound propositions that lead to the truth table results. The approach is based on two proposed algorithms, the first is called Producing Formula (PF algorithm which is based on the genetic programming idea, to find out the compound proposition solutions for the given truth table. The second algorithm is called the Solutions Optimization (SO algorithm which is based on genetic algorithms idea, to find a list of the optimum compound propositions that can solve the truth table. The obtained list will depend on the solutions obtained from the PF algorithm. Various types of genetic operators have been introduced to obtain the solutions either within the PF algorithm or SO algorithm.

  17. Judaism, genetic screening and genetic therapy.

    Science.gov (United States)

    Rosner, F

    1998-01-01

    Genetic screening, gene therapy and other applications of genetic engineering are permissible in Judaism when used for the treatment, cure, or prevention of disease. Such genetic manipulation is not considered to be a violation of God's natural law, but a legitimate implementation of the biblical mandate to heal. If Tay-Sachs disease, diabetes, hemophilia, cystic fibrosis, Huntington's disease or other genetic diseases can be cured or prevented by "gene surgery," then it is certainly permitted in Jewish law. Genetic premarital screening is encouraged in Judaism for the purpose of discouraging at-risk marriages for a fatal illness such as Tay-Sachs disease. Neonatal screening for treatable conditions such as phenylketonuria is certainly desirable and perhaps required in Jewish law. Preimplantation screening and the implantation of only "healthy" zygotes into the mother's womb to prevent the birth of an affected child are probably sanctioned in Jewish law. Whether or not these assisted reproduction techniques may be used to choose the sex of one's offspring, to prevent the birth of a child with a sex-linked disease such as hemophilia, has not yet been ruled on by modern rabbinic decisions. Prenatal screening with the specific intent of aborting an affected fetus is not allowed according to most rabbinic authorities, although a minority view permits it "for great need." Not to have children if both parents are carriers of genetic diseases such as Tay-Sachs is not a Jewish option. Preimplantation screening is preferable. All screening test results must remain confidential. Judaism does not permit the alteration or manipulation of physical traits and characteristics such as height, eye and hair color, facial features and the like, when such change provides no useful benefit to mankind. On the other hand, it is permissible to clone organisms and microorganisms to facilitate the production of insulin, growth hormone, and other agents intended to benefit mankind and to

  18. The 'I' in personalized genetics: 2008 Ian Constable lecture.

    Science.gov (United States)

    Mackey, David A

    2009-07-01

    The completion of the Human Genome Project heralded a new era in human genetic testing to predict individuals at risk from many common diseases. DNA markers can also be used to track one's ancestry. Eye diseases such as age-related macular degeneration and glaucoma have been important examples of the success of genome-wide association studies. Resource-strapped genetic services have been limited in providing DNA testing for many well-established hereditary diseases. Thus, several direct-to-consumer genetic services have arisen to fill the gap. However, there is a major need for research into interpreting the results of such tests of up to one million DNA markers. Studies of population, family and twins sharing common diseases help us clarify the significance of gene-disease associations. However, as identical twins show us, for some conditions our genes do not absolutely determine our destiny and environmental factors interact with our genetic profile.

  19. Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinics.

    Science.gov (United States)

    O'Shea, Rosie; Murphy, Anne Marie; Treacy, Eileen; Lynch, Sally Ann; Thirlaway, Kathryn; Lambert, Debby

    2011-04-01

    Many children with chronic genetic diseases are followed by specialty clinics that provide genetic information as part of the care. Health services restrictions in the Republic of Ireland (ROI) can make the wait for an appointment with a genetic counsellor long. We examined whether genetic information was being adequately understood when presented by medical, but non-genetics staff to long term patients, using our national metabolic service as an example. The aim was to inform health professionals about the need or role of a genetic counsellor in a specialist setting. A questionnaire was used to assess knowledge among parents and patients affected by galactosaemia and Maple Syrup Urine Disease (MSUD). Twenty seven families with galactosemia and 10 with MSUD were interviewed in clinic. Comparative analysis showed significant differences in knowledge between parents of children with galactosemia and adult patients (p=0.001) and between ethnicities (p>0.05). While parents are well informed, the majority expressed a wish for more information about the condition and its transmission. Adult patients with galactosemia and parents from certain ethnic backgrounds could especially benefit from genetic counselling. This study highlights the need for a genetic counsellor in specialist clinics.

  20. Cable Television Service; Cable Television Relay Service.

    Science.gov (United States)

    Federal Register, 1972

    1972-01-01

    The rules and regulations of the Federal Communications Commission (FCC) concerning cable television service and cable relay service are presented along with the comments of the National Cable Television Association, the National Association of Broadcasters, the Association of Maximum Service Telecasters, and a major group of program suppliers.…

  1. 76 FR 4393 - Discover Financial Services Negotiated Service Agreement

    Science.gov (United States)

    2011-01-25

    ... Discover Financial Services Negotiated Service Agreement AGENCY: Postal Regulatory Commission. ACTION... Financial Services negotiated service agreement to the market dominant product list. This notice addresses... 3020, et seq., to add a Discover Financial Services (DFS) negotiated service agreement to the...

  2. Marketing Youth Services.

    Science.gov (United States)

    Dimick, Barbara

    1995-01-01

    Marketing techniques in youth services are useful for designing programs, collections, and services and for determining customer needs. The marketing mix--product, place, price, and practice--provides a framework for service analysis. (AEF)

  3. Marketing Youth Services.

    Science.gov (United States)

    Dimick, Barbara

    1995-01-01

    Marketing techniques in youth services are useful for designing programs, collections, and services and for determining customer needs. The marketing mix--product, place, price, and practice--provides a framework for service analysis. (AEF)

  4. ServiceNow

    Data.gov (United States)

    US Agency for International Development — A cloud based service for creating a single system of record for all types of business services used by OCIO. Service Now applications are built on a single platform...

  5. Genetics in the courts

    Energy Technology Data Exchange (ETDEWEB)

    Coyle, Heather; Drell, Dan

    2000-12-01

    Various: (1)TriState 2000 Genetics in the Courts (2) Growing impact of the new genetics on the courts (3)Human testing (4) Legal analysis - in re G.C. (5) Legal analysis - GM ''peanots'', and (6) Legal analysis for State vs Miller

  6. Genetics and Developmental Psychology

    Science.gov (United States)

    Plomin, Robert

    2004-01-01

    One of the major changes in developmental psychology during the past 50 years has been the acceptance of the important role of nature (genetics) as well as nurture (environment). Past research consisting of twin and adoption studies has shown that genetic influence is substantial for most domains of developmental psychology. Present research…

  7. Quo Vadis, Medical Genetics?

    Science.gov (United States)

    Czeizel, Andrew E.

    The beginning of human genetics and its medical part: medical genetics was promising in the early decades of this century. Many genetic diseases and defects with Mendelian origin were identified and it helped families with significant genetic burden to limit their child number. Unfortunately this good start was shadowed by two tragic events. On the one hand, in the 1930s and early 1940s the German fascism brought about the dominance of an unscientific eugenics to mask vile political crimes. People with genetic diseases-defects were forced to sterilisation and several of them were killed. On the other hand, in the 1950s lysenkoism inhibitied the evolution of genetics in the Soviet Union and their satelite countries. Lysenko's doctrine declared genetics as a product of imperialism and a guilty science, therefore leading geneticists were ousted form their posts and some of them were executed or put in prison. Past decades genetics has resulted fantastic new results and achieved a leading position within the natural sciences. To my mind, however, the expected wider use of new eugenics indicates a new tragedy and this Cassandra's prediction is the topic of this presentation.

  8. Genetics and Developmental Psychology

    Science.gov (United States)

    Plomin, Robert

    2004-01-01

    One of the major changes in developmental psychology during the past 50 years has been the acceptance of the important role of nature (genetics) as well as nurture (environment). Past research consisting of twin and adoption studies has shown that genetic influence is substantial for most domains of developmental psychology. Present research…

  9. Ethical issues in genetics.

    Science.gov (United States)

    Shannon, T A

    1999-03-01

    The first section of the Notes on Moral Theology reviews ethical issues in genetics through the lenses of privacy-confidentiality; risk-benefit analysis in relation to prenatal diagnosis and gene therapy; and freedom-determinism/human dignity in the context of cloning. The author provides an overview of developments in genetics and highlights thematic issues common to these developments.

  10. Cryptic Genetic Variation in Evolutionary Developmental Genetics

    Directory of Open Access Journals (Sweden)

    Annalise B. Paaby

    2016-06-01

    Full Text Available Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes—processes that cannot be fully observed in continuously varying visible traits.

  11. Cryptic Genetic Variation in Evolutionary Developmental Genetics.

    Science.gov (United States)

    Paaby, Annalise B; Gibson, Greg

    2016-06-13

    Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes-processes that cannot be fully observed in continuously varying visible traits.

  12. Knowledge Service Engineering Handbook

    CERN Document Server

    Kantola, Jussi

    2012-01-01

    Covering the emerging field of knowledge service engineering, this groundbreaking handbook outlines how to acquire and utilize knowledge in the 21st century. Drawn on the expertise of the founding faculty member of the world's first university knowledge engineering service department, this book describes what knowledge services engineering means and how it is different from service engineering and service production. Presenting multiple cultural aspects including US, Finnish, and Korean, this handbook provides engineering, systemic, industry, and consumer use viewpoints to knowledge service sy

  13. DSI: Distributed Service Integration for Service Grid

    Institute of Scientific and Technical Information of China (English)

    YANG GuangWen(杨广文); SHI ShuMing(史树明); WANG DingXing(王鼎兴); HUANG QiFeng(黄启锋); LIU XueZheng(刘学铮)

    2003-01-01

    This paper presents DSI, a distributed service discovery and integration utility for service grid. The goal of DSI is efficiently to improve service publishing, deletion and lookup,decentralized control, scalability, and availability. DSI comprises a logically global metadata pool and a double-layered DHT (Distributed Hash Table). Efficient service publishing and lookup are achieved by adopting DHT. Clean service deletion is guaranteed by time-stamping. And system availability is improved by replication combined with automatic indexer selection. Experiments show that DSI can achieve short response time, low processing cost and high availability.

  14. THE MEANING OF GENETICS

    Directory of Open Access Journals (Sweden)

    Svenja Adolphs

    2003-05-01

    Full Text Available Research into the public understanding of genetics has greatly expanded lately. At the same time inatters relating to biotechnology have scizcd the public's attention. Corpus linguistics has long asked questions about how meaning is created and changed in the public sphere through language use. However, linking Corpus linguistics to the study of the public understanding of science is something too few have done. To correct this trend, we apply methods from corpus linguistics and cognitive linguistics to study how people talk about genetics. We do so by analysiny the mieaning of words like gene, genes, genetic, genetics, and genetically as found in various spoken and written corpora. Specifically, we examine how they take on certain (e.g. figurative connotations and modulate in context.

  15. ADHD and genetic syndromes.

    Science.gov (United States)

    Lo-Castro, Adriana; D'Agati, Elisa; Curatolo, Paolo

    2011-06-01

    A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms. Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes.

  16. Genetics of hepatocellular carcinoma

    Institute of Scientific and Technical Information of China (English)

    Andreas Teufel; Frank Staib; Stephan Kanzler; Arndt Weinmann; Henning Schulze-Bergkamen; Peter R Galle

    2007-01-01

    The completely assembled human genome has made it possible for modern medicine to step into an era rich in genetic information and high-throughput genomic analysis. These novel and readily available genetic resources and analytical tools may be the key to unravel the molecular basis of hepatocellular carcinoma (HCC). Moreover, since an efficient treatment for this disease is lacking, further understanding of the genetic background of HCC will be crucial in order to develop new therapies aimed at selected targets. We report on the current status and recent developments in HCC genetics. Special emphasis is given to the genetics and regulation of major signalling pathways involved in HCC such as p53, Wntsignalling, TGFβ, Ras, and Rb pathways. Furthermore, we describe the influence of chromosomal aberrations as well as of DNA methylation. Finally, we report on the rapidly developing field of genomic expression profiling in HCC, mainly by microarray analysis.

  17. Optimal service distribution in WSN service system subject to data security constraints.

    Science.gov (United States)

    Wu, Zhao; Xiong, Naixue; Huang, Yannong; Gu, Qiong

    2014-08-04

    Services composition technology provides a flexible approach to building Wireless Sensor Network (WSN) Service Applications (WSA) in a service oriented tasking system for WSN. Maintaining the data security of WSA is one of the most important goals in sensor network research. In this paper, we consider a WSN service oriented tasking system in which the WSN Services Broker (WSB), as the resource management center, can map the service request from user into a set of atom-services (AS) and send them to some independent sensor nodes (SN) for parallel execution. The distribution of ASs among these SNs affects the data security as well as the reliability and performance of WSA because these SNs can be of different and independent specifications. By the optimal service partition into the ASs and their distribution among SNs, the WSB can provide the maximum possible service reliability and/or expected performance subject to data security constraints. This paper proposes an algorithm of optimal service partition and distribution based on the universal generating function (UGF) and the genetic algorithm (GA) approach. The experimental analysis is presented to demonstrate the feasibility of the suggested algorithm.

  18. Medical Genetics and the First Studies of the Genetics of Populations in Mexico.

    Science.gov (United States)

    Barahona, Ana

    2016-09-01

    Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts. Copyright © 2016 by

  19. Frequently Asked Questions about Genetic Testing

    Science.gov (United States)

    ... Care Specific Genetic Disorders Frequently Asked Questions About Genetic Testing What is genetic testing? What can I learn ... find more information about genetic testing? What is genetic testing? Genetic testing uses laboratory methods to look at ...

  20. Genetics Home Reference: genetic epilepsy with febrile seizures plus

    Science.gov (United States)

    ... Health Conditions genetic epilepsy with febrile seizures plus genetic epilepsy with febrile seizures plus Printable PDF Open ... Javascript to view the expand/collapse boxes. Description Genetic epilepsy with febrile seizures plus (GEFS+) is a ...

  1. Current genetic counseling in China%中国目前的遗传咨询

    Institute of Scientific and Technical Information of China (English)

    章远志; Nanbert ZHONG

    2006-01-01

    @@ In 1975, the American Society of Human Genetics adopted the following definition of genetic counseling: genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. This definition indicates that genetic counseling is the delivery of information about genetic diseases, including genetic risks, natural history of the disease, and clinical management of the disease, to patients and their families. Although genetic counseling is not a new word for both western countries and China, the development of which is quite different. Many excellent genetic counseling programs have been developed since then in developed countries, whereas there is no formal one in China. In the United States, professionals who carry out genetic counseling must have taken a professional training and have had the certificate of American Board of Genetic Counseling (ABGC) (www.abgc.net). The ABGC prepares and administers examinations to certify individuals who provide services in the medical genetics specialty of genetic counseling, and accredits training programs in the field of genetic counseling. There are more than two dozen master degree programs of genetic counseling accredited by the ABGC with either full, interim, or recognized new programs (www.abgc.net). There are twenty-one full credential programs in the United States, three in Australia, three in Canada and two in United Kingdom (www.abgc.net). Looking through all over the China, there is no any official genetic counseling program, so neither any professional genetic counselor. Genetic counseling in China now is not offered by professionally trained genetic counselors, but clinicians such as pediatricians or obstetricians[1]. These clinicians who performing genetic counseling in China have not been trained professionally on genetic counseling. Further more, there is no any board to certificate counselors.

  2. Central Laboratories Services

    Data.gov (United States)

    Federal Laboratory Consortium — The TVA Central Laboratories Services is a comprehensive technical support center, offering you a complete range of scientific, engineering, and technical services....

  3. Quality Management of Services

    Directory of Open Access Journals (Sweden)

    Yuriy I. Dreizis

    2016-10-01

    Full Text Available It is shown that services take the leading place in modern, post-industrial society. The world economy has passed the period of deindustrialization and became service economy. Fundamentals of service economy are not physical goods, but service. The special nature of service and its property demands the mechanism of management, other than physical goods. Ensuring necessary quality of the provided service is one of the main problems, which is put before the organization by peculiar properties of service. Therefore, quality management of service is the most important branch of management of the modern organization.

  4. Economic viewpoints on ecosystem services

    NARCIS (Netherlands)

    Silvis, H.J.; Heide, van der C.M.

    2013-01-01

    to help determine the different values of ecosystems. Ecosystem services are usually divided into four categories: provisioning services, regulating services, cultural services and habitat services (previously denoted as supporting services). This overview highlights economic theories about

  5. Economic viewpoints on ecosystem services

    NARCIS (Netherlands)

    Silvis, H.J.; Heide, van der C.M.

    2013-01-01

    to help determine the different values of ecosystems. Ecosystem services are usually divided into four categories: provisioning services, regulating services, cultural services and habitat services (previously denoted as supporting services). This overview highlights economic theories about ecosyste

  6. Speech-Language Pathologists' Knowledge of Genetics: Perceived Confidence, Attitudes, Knowledge Acquisition and Practice-Based Variables

    Science.gov (United States)

    Tramontana, G. Michael; Blood, Ingrid M.; Blood, Gordon W.

    2013-01-01

    The purpose of this study was to determine (a) the general knowledge bases demonstrated by school-based speech-language pathologists (SLPs) in the area of genetics, (b) the confidence levels of SLPs in providing services to children and their families with genetic disorders/syndromes, (c) the attitudes of SLPs regarding genetics and communication…

  7. The role of the genetic counsellor: a systematic review of research evidence.

    Science.gov (United States)

    Skirton, Heather; Cordier, Christophe; Ingvoldstad, Charlotta; Taris, Nicolas; Benjamin, Caroline

    2015-04-01

    In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms.

  8. Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes European Society of Human Genetics

    OpenAIRE

    Borry, Pascal

    2010-01-01

    Many private companies offer direct-to-consumer (DTC) genetic testing services. Some tests may detect severe and highly penetrant monogenic disorders, while other tests are for genetic variants found associated with increased susceptibility for common and complex diseases in large-scale population studies. Through its Public and Professional Policy committee followed by member and expert consultation, the European Society of Human Genetics has developed the following policy on advertising and...

  9. Nurse Scheduling Using Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Komgrit Leksakul

    2014-01-01

    Full Text Available This study applied engineering techniques to develop a nurse scheduling model that, while maintaining the highest level of service, simultaneously minimized hospital-staffing costs and equitably distributed overtime pay. In the mathematical model, the objective function was the sum of the overtime payment to all nurses and the standard deviation of the total overtime payment that each nurse received. Input data distributions were analyzed in order to formulate a simulation model to determine the optimal demand for nurses that met the hospital’s service standards. To obtain the optimal nurse schedule with the number of nurses acquired from the simulation model, we proposed a genetic algorithm (GA with two-point crossover and random mutation. After running the algorithm, we compared the expenses and number of nurses between the existing and our proposed nurse schedules. For January 2013, the nurse schedule obtained by GA could save 12% in staffing expenses per month and 13% in number of nurses when compare with the existing schedule, while more equitably distributing overtime pay between all nurses.

  10. All about Genetics (For Parents)

    Science.gov (United States)

    ... or sequence) of these four bases determines each genetic code. The segments of DNA that contain the instructions ... laboratory dyes. continue Genetic Problems Errors in the genetic code or "gene recipe" can happen in a variety ...

  11. Genetics Home Reference: bipolar disorder

    Science.gov (United States)

    ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Home Health Conditions bipolar ... my family? What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency ...

  12. Genetics Home Reference: vibratory urticaria

    Science.gov (United States)

    ... in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected ... Genetic Testing (2 links) Genetic Testing Registry: Vibratory angioedema Genetic Testing Registry: Vibratory urticaria General Information from ...

  13. Genetics Home Reference: polycystic kidney disease

    Science.gov (United States)

    ... links) Genetic Testing Registry: Autosomal recessive polycystic kidney disease Genetic Testing Registry: Polycystic kidney disease 2 Genetic Testing Registry: Polycystic kidney disease 3 Genetic Testing ...

  14. On Derivations Of Genetic Algebras

    Science.gov (United States)

    Mukhamedov, Farrukh; Qaralleh, Izzat

    2014-11-01

    A genetic algebra is a (possibly non-associative) algebra used to model inheritance in genetics. In application of genetics this algebra often has a basis corresponding to genetically different gametes, and the structure constant of the algebra encode the probabilities of producing offspring of various types. In this paper, we find the connection between the genetic algebras and evolution algebras. Moreover, we prove the existence of nontrivial derivations of genetic algebras in dimension two.

  15. Genetically Engineered Cyanobacteria

    Science.gov (United States)

    Zhou, Ruanbao (Inventor); Gibbons, William (Inventor)

    2015-01-01

    The disclosed embodiments provide cyanobacteria spp. that have been genetically engineered to have increased production of carbon-based products of interest. These genetically engineered hosts efficiently convert carbon dioxide and light into carbon-based products of interest such as long chained hydrocarbons. Several constructs containing polynucleotides encoding enzymes active in the metabolic pathways of cyanobacteria are disclosed. In many instances, the cyanobacteria strains have been further genetically modified to optimize production of the carbon-based products of interest. The optimization includes both up-regulation and down-regulation of particular genes.

  16. [Genetic risk and discrimination].

    Science.gov (United States)

    Vidal Gallardo, Mercedes

    2010-01-01

    The continuous advances in our society in the last decades have allowed us to get to know the personal genetic data. Although this discovery has important benefits, it also causes a great paradox, since the genetic information can be an element of social stigma, and its inappropriate use can damage the fundamental rights. It is obvious that there are cases in which the genetic risk, that is, the predisposition of a person to suffer some illnesses, can be a discriminatory element, especially in the contractual field.

  17. Estimating Health Services Requirements

    Science.gov (United States)

    Alexander, H. M.

    1985-01-01

    In computer program NOROCA populations statistics from National Center for Health Statistics used with computational procedure to estimate health service utilization rates, physician demands (by specialty) and hospital bed demands (by type of service). Computational procedure applicable to health service area of any size and even used to estimate statewide demands for health services.

  18. Genetics Home Reference: Liddle syndrome

    Science.gov (United States)

    ... unknown. The condition has been found in populations worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  19. Services in innovation - Innovation in services

    OpenAIRE

    Hauknes, Johan

    1998-01-01

    There has been a considerable gap between efforts to understand innovation and other change processes, and ongoing structural changes in national economies. The SI4S project has aimed at developing concepts, empirical evidence and proposals for practical action concerning the role of services in European innovation systems. The general objectives were to map, understand and analyse the changing role of services and service innovations as users, carriers, shapers and sources of innovations in ...

  20. Contracting out local services

    DEFF Research Database (Denmark)

    Petersen, Ole Helby; Houlberg, Kurt; Ring Christensen, Lasse

    2015-01-01

    Governments face a fundamental choice between in-house production and contracting out for the delivery of services to citizens. This article examines the importance of ideology, fiscal pressure, and size for contracting out in technical and social services. The analysis builds on a panel data set...... covering municipal spending on services in all 98 Danish municipalities. The authors find that contracting out is shaped by ideology in social services but not in technical services, which indicates that social services are the contemporary ideological battlefield of privatization. The analysis further...... reveals that economically prosperous municipalities are more likely to contract out social services, whereas contracting out of technical services is not influenced by economic affluence. Finally, larger municipalities contract out more in technical services but less in social services, demonstrating...

  1. Exploring Modularity in Services

    DEFF Research Database (Denmark)

    Avlonitis, Viktor; Hsuan, Juliana

    2017-01-01

    Purpose The purpose of this paper is to examine how modularity manifests in the design of services. The study brings new insights on the organization of service firms by empirically exploring and theoretically advancing the intersection of modularity and service design. Design/methodology/approac......Purpose The purpose of this paper is to examine how modularity manifests in the design of services. The study brings new insights on the organization of service firms by empirically exploring and theoretically advancing the intersection of modularity and service design. Design...... concept), intra-firm organization (service delivery system), and inter-firm relationships (service network). They posit that service architectures require the examination of different analytical levels due to the complex and dynamic nature of service business. Additionally, the analysis provides new...

  2. Genetics and the Brain

    Science.gov (United States)

    ... gene: a spiral of DNA that superintends its construction out of amino acids. In recent decades, genetic ... inbox. Subscribe Now Privacy Policy × × --> © 2017 The Dana Foundation. All Rights Reserved. 505 Fifth Avenue, 6th floor ...

  3. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

    Full Text Available The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails, nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  4. Genetics Home Reference: galactosemia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions galactosemia galactosemia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Galactosemia is a disorder that affects how the body ...

  5. Genetics and identity.

    Science.gov (United States)

    Nordgren, Anders

    2008-01-01

    For the last 20 years the concepts of identity and identification have been subject to much interest in the humanities and social sciences. However, the implications of genetics for identity and identification have been largely neglected. In this paper, I distinguish various conceptions of identity (as continuity over time, as basic kind of being, as unique set of properties, and as social role) and identification (as subjective experience of identity in various senses and as social ascription of identity in various senses), and investigate systematically genetic perspectives on each of these conceptions. I stress the importance of taking the genetic perspectives seriously but also their limitations. In particular, I pinpoint conceptual problems that arise when a genetic approach to identity is adopted.

  6. Plant genetics. Pollen clusters.

    Science.gov (United States)

    Smyth, D R

    1994-09-01

    New Arabidopsis mutations that result in all four products of meiosis being held together as a tetrad of fused pollen grains may facilitate genetic mapping and lead to new insights into pollen biology.

  7. Genetics of Diabetes

    Science.gov (United States)

    ... A A A Listen En Español Genetics of Diabetes You've probably wondered how you developed diabetes. ... to develop diabetes than others. What Leads to Diabetes? Type 1 and type 2 diabetes have different ...

  8. Genetics Home Reference: achromatopsia

    Science.gov (United States)

    ... common forms of color vision deficiency (also called color blindness ), in which people can perceive color but have ... Names for This Condition achromatism rod monochromatism total color blindness Related Information How are genetic conditions and genes ...

  9. Preimplantation genetic diagnosis

    DEFF Research Database (Denmark)

    Bay, Bjorn; Ingerslev, Hans Jakob; Lemmen, Josephine Gabriela

    2016-01-01

    OBJECTIVE: To study whether women conceiving after preimplantation genetic diagnosis (PGD) and their children have greater risks of adverse pregnancy and birth outcomes compared with children conceived spontaneously or after IVF with or without intracytoplasmic sperm injection (ICSI). DESIGN...

  10. Genetics and delusional disorder.

    Science.gov (United States)

    Cardno, Alastair G; McGuffin, Peter

    2006-01-01

    This article gives an overview of genetic research approaches and their application to delusional disorder. Most studies have been based on small samples and have had other methodological limitations, so it is not clear whether there is a genetic contribution to the aetiology of delusional disorder. It is unlikely that delusional disorder is strongly related genetically to affective disorder or schizophrenia, but more subtle relationships cannot be ruled out. The rarity of multiply affected families prohibits linkage studies and, to date, molecular genetic investigations have been mainly limited to small association studies of dopamine receptor polymorphisms. A range of considerably larger, epidemiologically rigorous studies is required, but the uncommonness and other features of the disorder put strong limitations on the prospects for ascertaining adequate samples.

  11. Genetics Home Reference: preeclampsia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions preeclampsia preeclampsia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Preeclampsia is a complication of pregnancy in which affected ...

  12. Genetic obesity syndromes.

    Science.gov (United States)

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  13. Genetic Sample Inventory - NRDA

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This database archives genetic tissue samples from marine mammals collected in the North-Central Gulf of Mexico from 2010-2015. The collection includes samples from...

  14. Genetic Sample Inventory

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This database archives genetic tissue samples from marine mammals collected primarily from the U.S. east coast. The collection includes samples from field programs,...

  15. Genetics Home Reference: neuroblastoma

    Science.gov (United States)

    ... the neck can cause nerve damage known as Horner syndrome , which leads to drooping eyelids, small pupils, ... named? Additional Information & Resources MedlinePlus (3 links) Encyclopedia: Horner Syndrome Encyclopedia: Neuroblastoma Health Topic: Neuroblastoma Genetic and ...

  16. Latest Research: Genetic Links

    Science.gov (United States)

    ... Current Issue Past Issues Feature: Vision Latest Research: Genetic Links Past Issues / Summer 2008 Table of Contents ... inside the eye is a risk factor for glaucoma. Summer 2008 Issue: Volume 3 Number 3 Page ...

  17. Genetics Home Reference: osteopetrosis

    Science.gov (United States)

    ... Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of ... Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008 Jan;42(1):19-29. Epub 2007 Aug 30. ...

  18. Genetics Home Reference: cholangiocarcinoma

    Science.gov (United States)

    ... certain lifestyle factors, including smoking, alcohol use, and obesity, may also contribute to the risk of developing cholangiocarcinoma . Studies suggest that a combination of genetic, environmental, and lifestyle factors influence whether a person will develop cholangiocarcinoma . However, ...

  19. Genetic Testing Registry

    Science.gov (United States)

    ... GEO) Profiles Genome Workbench HomoloGene Map Viewer Online Mendelian Inheritance in Man (OMIM) RefSeqGene UniGene All Genes & Expression Resources... Genetics & Medicine Bookshelf Database of Genotypes and Phenotypes (dbGaP) ...

  20. Formal genetic maps

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2014-12-24

    Dec 24, 2014 ... Abstract Formal genetic maps are databases, represented as text or graphic figures, that can be ..... cantly, to our current vague and scanty knowledge of many, ...... similar to reverse engineering techniques, might be worthy of.

  1. Parkinson's disease and genetics.

    Science.gov (United States)

    Lester, Jacobo; Otero-Siliceo, Enrique

    2006-09-01

    Idiopathic Parkinson disease (IPD) is a condition of unknown cause. Several factors are believed to contribute to its onset, and many studies have been conducted in search of the possible etiology of Parkinson disease. Genetic factors have become relevant when trying to explain the onset of Parkinson disease. The studies are divided into 2 categories: epidemiological and studies that analyze twins from families with members suffering from Parkinson disease, thus looking for the responsible genetic mutations. In this article we address this controversial topic, reviewing some of the most significant studies trying to provide evidence which relates genetics to Parkinson disease. We present current epidemiological studies and the most important genetic factors related to Parkinson disease, including the latest information currently available on each issue.

  2. Genetics of osteoarthritis.

    Science.gov (United States)

    Rodriguez-Fontenla, Cristina; Gonzalez, Antonio

    2015-01-01

    Osteoarthritis (OA) is a complex disease caused by the interaction of multiple genetic and environmental factors. This review focuses on the studies that have contributed to the discovery of genetic susceptibility factors in OA. The most relevant associations discovered until now are discussed in detail: GDF-5, 7q22 locus, MCF2L, DOT1L, NCOA3 and also some important findings from the arcOGEN study. Moreover, the different approaches that can be used to minimize the specific problems of the study of OA genetics are discussed. These include the study of microsatellites, phenotype standardization and other methods such as meta-analysis of GWAS and gene-based analysis. It is expected that these new approaches contribute to finding new susceptibility genetic factors for OA. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  3. LSD and Genetic Damage

    Science.gov (United States)

    Dishotsky, Norman I.; And Others

    1971-01-01

    Reviews studies of the effects of lysergic acid diethylamide (LSD) on man and other organisms. Concludes that pure LSD injected in moderate doses does not cause chromosome or detectable genetic damage and is not a teratogen or carcinogen. (JM)

  4. The genetics of deliria

    NARCIS (Netherlands)

    D. Adamis; B.C. van Munster; A.J.D. Macdonald

    2009-01-01

    Delirium not induced by alcohol or other psychoactive substance and alcohol withdrawal delirium (or delirium tremens) are both cerebral syndromes with similar presentations and are associated with various adverse outcomes. Recently, interest in identifying genetic predisposing factors that influence

  5. Genetics Home Reference: hypercholesterolemia

    Science.gov (United States)

    ... Encyclopedia: Familial hypercholesterolemia Encyclopedia: High blood cholesterol and triglycerides Encyclopedia: Xanthoma Health Topic: Cholesterol Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 link) Familial hypercholesterolemia Additional NIH ...

  6. Genetics Home Reference: macrozoospermia

    Science.gov (United States)

    ... biological children (infertility). In affected males, almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the male's genetic information that is to ...

  7. Genetics Home Reference: hypochondroplasia

    Science.gov (United States)

    ... Description Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into ... Resources MedlinePlus (2 links) Encyclopedia: Lordosis Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  8. LSD and Genetic Damage

    Science.gov (United States)

    Dishotsky, Norman I.; And Others

    1971-01-01

    Reviews studies of the effects of lysergic acid diethylamide (LSD) on man and other organisms. Concludes that pure LSD injected in moderate doses does not cause chromosome or detectable genetic damage and is not a teratogen or carcinogen. (JM)

  9. Genetics Home Reference: hemophilia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions hemophilia hemophilia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hemophilia is a bleeding disorder that slows the blood ...

  10. Genetics Home Reference: tyrosinemia

    Science.gov (United States)

    ... 16,000 individuals. In the Saguenay-Lac St. Jean region of Quebec, tyrosinemia type I affects 1 ... detected via neonatal screening: management and outcome. Mol Genet Metab. 2012 Nov;107(3):605-7. doi: ...

  11. [Genetics of neuropathies].

    Science.gov (United States)

    Gess, B; Schirmacher, A; Young, P

    2013-02-01

    Hereditary neuropathies belong to the most common neurogenetic disorders. They appear mostly as sensory and motor neuropathies but there are also pure sensory, pure motor as well as sensory and autonomic hereditary neuropathies. In clinical practice, knowledge of hereditary neuropathies is important in order to recognize them among polyneuropathies and achieve a successful genetic diagnosis. The molecular genetics of hereditary neuropathies are very heterogeneous with currently more than 40 known disease-causing genes. The 4 most common genes account for almost 90% of the genetically diagnosed hereditary neuropathies. In this review article we provide an overview of the currently known genes and propose a rational genetic work-up protocol of the most common genes.

  12. Genetics Home Reference: schwannomatosis

    Science.gov (United States)

    ... areas where there are no known tumors. The pain associated with this condition ranges from mild to ... Additional genetic changes (somatic mutations) that are acquired during a person's lifetime ...

  13. Prenatal Genetic Screening Tests

    Science.gov (United States)

    ... cells from the fetus or placenta obtained through amniocentesis or chorionic villus sampling (CVS) . FAQ164 “Prenatal Genetic ... should be followed by a diagnostic test with amniocentesis or CVS. The cell-free DNA screening test ...

  14. Service Systems Implementation

    CERN Document Server

    Demirkan, Haluk; Krishna, Vikas

    2011-01-01

    Service Systems Implementation provides the latest applications and practices aimed at improving the key performance indicators of service systems, especially those related to service quality, service productivity, regulatory compliance, and sustainable service innovation. The book presents action-oriented, application-oriented, design science-oriented (artifacts building: constructs, models, methods and instantiations) and case study-oriented research with actionable results by illustrating techniques that can be employed in large scale, real world examples. The case studies will help visuali

  15. Congestion Service Facilities Location Problem with Promise of Response Time

    Directory of Open Access Journals (Sweden)

    Dandan Hu

    2013-01-01

    Full Text Available In many services, promise of specific response time is advertised as a commitment by the service providers for the customer satisfaction. Congestion on service facilities could delay the delivery of the services and hurts the overall satisfaction. In this paper, congestion service facilities location problem with promise of response time is studied, and a mixed integer nonlinear programming model is presented with budget constrained. The facilities are modeled as M/M/c queues. The decision variables of the model are the locations of the service facilities and the number of servers at each facility. The objective function is to maximize the demands served within specific response time promised by the service provider. To solve this problem, we propose an algorithm that combines greedy and genetic algorithms. In order to verify the proposed algorithm, a lot of computational experiments are tested. And the results demonstrate that response time has a significant impact on location decision.

  16. Optimizing QoS-Aware Semantic Web Service Composition

    Science.gov (United States)

    Lécué, Freddy

    Ranking and optimization of web service compositions are some of the most interesting challenges at present. Since web services can be enhanced with formal semantic descriptions, forming the "semantic web services", it becomes conceivable to exploit the quality of semantic links between services (of any composition) as one of the optimization criteria. For this we propose to use the semantic similarities between output and input parameters of web services. Coupling this with other criteria such as quality of service (QoS) allow us to rank and optimize compositions achieving the same goal. Here we suggest an innovative and extensible optimization model designed to balance semantic fit (or functional quality) with non-functional QoS metrics. To allow the use of this model in the context of a large number of services as foreseen by the strategic EC-funded project SOA4All we propose and test the use of Genetic Algorithms.

  17. Secretary's advisory committee on genetic testing: its emerging role in public policy deliberation on genetic tests.

    Science.gov (United States)

    Carr, S; Goodwin, S M

    1999-01-01

    The Secretary's Advisory Committee on Genetic Testing (SACGT) was established by the U.S. Secretary of Health and Human Services, Donna E. Shalala, to provide a public forum for the formulation of policy advice in the complex and growing area of genetic testing. After a careful nomination and selection process, the Secretary announced the appointment of thirteen advisors to the SACGT in June 1999. The first meeting of the SACGT was held June 30, 1999. This article describes the purpose, formation, and function of the SACGT. Before addressing these questions about the role of the SACGT, we first will explain what genetic testing is, how it is currently used, and what new uses it may be put to in the future.

  18. Genetics of bipolar disorder

    Directory of Open Access Journals (Sweden)

    Kerner B

    2014-02-01

    Full Text Available Berit Kerner Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA Abstract: Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are

  19. Applications of Genetic Programming

    DEFF Research Database (Denmark)

    Gaunholt, Hans; Toma, Laura

    1996-01-01

    In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc.......In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc....

  20. Genetics of asthma

    DEFF Research Database (Denmark)

    Thomsen, Simon F

    2015-01-01

    Asthma runs in families, and children of asthmatic parents are at increased risk of asthma. Prediction of disease risk is pivotal for the clinician when counselling atopic families. However, this is not always an easy task bearing in mind the vast and ever-increasing knowledge about asthma genetics...... of methods and advances in asthma genetics in an attempt to help the clinician keep track of the most important knowledge in the field....

  1. Applications of Genetic Programming

    DEFF Research Database (Denmark)

    Gaunholt, Hans; Toma, Laura

    1996-01-01

    In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc.......In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc....

  2. Genetics of ischaemic stroke.

    Science.gov (United States)

    Sharma, Pankaj; Yadav, Sunaina; Meschia, James F

    2013-12-01

    Recent advances in genomics and statistical computation have allowed us to begin addressing the genetic basis of stroke at a molecular level. These advances are at the cusp of making important changes to clinical practice of some monogenic forms of stroke and, in the future, are likely to revolutionise the care provided to these patients. In this review we summarise the state of knowledge in ischaemic stroke genetics particularly in the context of how a practicing clinician can best use this knowledge.

  3. Human hemoglobin genetics

    Energy Technology Data Exchange (ETDEWEB)

    Honig, G.R.; Adams, J.G.

    1986-01-01

    This book contains the following 10 chapters: Introduction; The Human Hemoglobins; The Human Globin Genes; Hemoglobin Synthesis and Globin Gene Expression; The Globin Gene Mutations - A. Mechanisms and Classification; The Globin Gene Mutations - B. Their Phenotypes and Clinical Expression; The Genetics of the Human Globin Gene Loci: Formal Genetics and Gene Linkage; The Geographic Distribution of Globin Gene Variation; Labortory Identification, Screening, Education, and Counseling for Abnormal Hemoglobins and Thalassemias; and Approaches to the Treatment of the Hemoglobin Disorders.

  4. Missing persons genetic identification

    Directory of Open Access Journals (Sweden)

    Matija Bajželj

    2017-09-01

    Full Text Available This article presents identification of missing persons from badly preserved post-mortem remains using molecular genetics methods. Extremely polymorphic and individually specific genetic markers that enable the identification of missing persons are microsatellites on autosomal chromosomes, microsatellites on Y chromosome and control region of mitochondrial DNA. For genetic profile comparison, biological material from post-mortem remains and reference samples have to be collected. If post-mortem remains are found shortly after the presumed death of the missing person, their personal items are used for comparison. If these are not available, (the missing person‘s relatives could be used as reference samples or achieved tissues stored in medical institutions if biopsy for the needs of medical diagnostics was performed earlier during their life. When reference samples are not available, genetic identification is not possible. The type of biological material sampled from the deceased depends on the condition of human remains. Blood, soft tissues, nails, teeth or bones are most commonly used for genetic identification, and the time required for DNA extraction depends on the type of biological material. The most demanding and time consuming is extraction of DNA from teeth and bones, therefore we use it in cases when only skeleton is available or we cannot get a sufficient amount of DNA for genetic identification from other tissues. If the genetic profile of post-mortem reamains and a reference sample of the missing person match, the strength of genetic evidence has to be statistically evaluated and the probability of identification reported.

  5. Genetic diseases in adults.

    Science.gov (United States)

    Kolettis, Peter N

    2003-02-01

    Genetic diseases that do not primarily affect the genitourinary tract may have urologic manifestations. These urologic manifestations range from benign and malignant renal disease to infertility. Thus, the practicing urologist may be involved in the care of these patients and should have knowledge of these diseases. Continued improvements in the diagnosis and treatment of these genetic diseases will likely result in improved survival and will increase the number of patients who may develop urologic manifestations of these diseases.

  6. Genetics of obesity.

    OpenAIRE

    Martinez, J. A.; Enriquez, L. (Luis); M. J. Moreno-Aliaga; Marti, A.

    2007-01-01

    OBJECTIVE: The aim was to review and update advances in genetics of obesity. DESIGN: Analysis and interpretation of recent investigations about regulating the energy balance as well as about gene-nutrient interactions and current nutri-genomic research methods. BACKGROUND AND MAIN STATEMENTS: Obesity results from a long-term positive energy balance. However, its rising prevalence in developed and developing societies must reflect lifestyle changes, since genetic susceptibility rema...

  7. Genetic testing in hyperlipidemia.

    Science.gov (United States)

    Bilen, Ozlem; Pokharel, Yashashwi; Ballantyne, Christie M

    2015-05-01

    Hereditary dyslipidemias are often underdiagnosed and undertreated, yet with significant health implications, most importantly causing preventable premature cardiovascular diseases. The commonly used clinical criteria to diagnose hereditary lipid disorders are specific but are not very sensitive. Genetic testing may be of value in making accurate diagnosis and improving cascade screening of family members, and potentially, in risk assessment and choice of therapy. This review focuses on using genetic testing in the clinical setting for lipid disorders, particularly familial hypercholesterolemia.

  8. Primer on molecular genetics

    Energy Technology Data Exchange (ETDEWEB)

    1992-04-01

    This report is taken from the April 1992 draft of the DOE Human Genome 1991--1992 Program Report, which is expected to be published in May 1992. The primer is intended to be an introduction to basic principles of molecular genetics pertaining to the genome project. The material contained herein is not final and may be incomplete. Techniques of genetic mapping and DNA sequencing are described.

  9. Genetics & sport: bioethical concerns.

    Science.gov (United States)

    Miah, Andy

    2012-12-01

    This paper provides an overview of the ethical issues pertaining to the use of genetic insights and techniques in sport. Initially, it considers a range of scientific findings that have stimulated debate about the ethical issues associated with genetics applied to sport. It also outlines some of the early policy responses to these discoveries from world leading sports organizations, along with knowledge about actual use of gene technologies in sport. Subsequently, it considers the challenges with distinguishing between therapeutic use and human enhancement within genetic science, which is a particularly important issue for the world of sport. Next, particular attention is given to the use of genetic information, which raises questions about the legitimacy and reliability of genetic tests, along with the potential public value of having DNA databanks to economize in health care. Finally, the ethics of gene transfer are considered, inviting questions into the values of sport and humanity. It argues that, while gene modification may seem conceptually similar to other forms of doping, the requirements upon athletes are such that new forms of enhancement become increasingly necessary to discover. Insofar as genetic science is able to create safer, more effective techniques of human modification, then it may be an appealing route through which to modify athletes to safeguard the future of elite sports as enterprises of human excellence.

  10. Genetic Diversity of Fragaria iinumae and F. nipponica Based on Microsatellite Markers

    Science.gov (United States)

    The United States Department of Agriculture (USDA) - Agricultural Research Service (ARS) - National Clonal Germplasm Repository (NCGR) in Corvallis, Oregon, is a genebank that preserves strawberry genetic resources. The Fragaria L. collection consists of accessions from 17 species and 37 countries. ...

  11. Identifying priority areas for land protection in the South Atlantic: A landscape genetics pilot study

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Identifies genetic “hotspots” for sustaining populations and maintaining within-species adaptive capacity throughout the LCC. Evaluates the overlap between these...

  12. Genetic parameters of bison at Fort Niobrara National Wildlife Refuge and Sully's Hill Game Range

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — The results from this project will be a final report on the analysis of the genetics of the Department of the Interior bison herds at the metapopulation level. This...

  13. Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore

    Science.gov (United States)

    Salk, Rachel H.; Hyde, Janet S.

    2012-01-01

    Over the past century, much of genetics was deterministic, and feminist researchers framed justified criticisms of genetics research. However, over the past two decades, genetics research has evolved remarkably and has moved far from earlier deterministic approaches. Our article provides a brief primer on modern genetics, emphasizing contemporary…

  14. Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore

    Science.gov (United States)

    Salk, Rachel H.; Hyde, Janet S.

    2012-01-01

    Over the past century, much of genetics was deterministic, and feminist researchers framed justified criticisms of genetics research. However, over the past two decades, genetics research has evolved remarkably and has moved far from earlier deterministic approaches. Our article provides a brief primer on modern genetics, emphasizing contemporary…

  15. Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives

    Directory of Open Access Journals (Sweden)

    van der Vleuten Cees

    2011-02-01

    Full Text Available Abstract Background Available evidence suggests that improvements in genetics education are needed to prepare primary care providers for the impact of ongoing rapid advances in genomics. Postgraduate (physician training and master (midwifery training programmes in primary care and public health are failing to meet these perceived educational needs. The aim of this study was to explore the role of genetics in primary care (i.e. family medicine and midwifery care and the need for education in this area as perceived by primary care providers, patient advocacy groups and clinical genetics professionals. Methods Forty-four participants took part in three types of focus groups: mono-disciplinary groups of general practitioners and midwives, respectively and multidisciplinary groups composed of a diverse set of experts. The focus group sessions were audio-taped, transcribed verbatim and analysed using content analysis. Recurrent themes were identified. Results Four themes emerged regarding the educational needs and the role of genetics in primary care: (1 genetics knowledge, (2 family history, (3 ethical dilemmas and psychosocial effects in relation to genetics and (4 insight into the organisation and role of clinical genetics services. These themes reflect a shift in the role of genetics in primary care with implications for education. Although all focus group participants acknowledged the importance of genetics education, general practitioners felt this need more urgently than midwives and more strongly emphasized their perceived knowledge deficiencies. Conclusion The responsibilities of primary care providers with regard to genetics require further study. The results of this study will help to develop effective genetics education strategies to improve primary care providers' competencies in this area. More research into the educational priorities in genetics is needed to design courses that are suitable for postgraduate and master programmes for

  16. Perceptions of genetic discrimination among people at risk for Huntington’s disease: a cross sectional survey

    OpenAIRE

    Bombard, Yvonne; Veenstra, Gerry; FRIEDMAN, JAN M.; Creighton, Susan; Currie, Lauren; Paulsen, Jane S.; Joan L. Bottorff; Hayden, Michael R.

    2009-01-01

    Objective To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington’s disease who had undergone genetic testing or remained untested. Design Cross sectional, self reported survey. Setting Seven genetics and movement disorders clinics servicing rural and urban communities in Canada. Participants 233 genetically tested and untested asymptomatic people at risk for Huntington’s disease (response rate 80%): 167 underwent testing (83 had the Huntingt...

  17. Multimedia services in intelligent environments recommendation services

    CERN Document Server

    Virvou, Maria; Jain, Lakhmi

    2013-01-01

    Multimedia services are now commonly used in various activities in the daily lives of humans. Related application areas include services that allow access to large depositories of information, digital libraries, e-learning and e-education, e-government and e-governance, e-commerce and e-auctions, e-entertainment, e-health and e-medicine, and e-legal services, as well as their mobile counterparts (i.e., m-services). Despite the tremendous growth of multimedia services over the recent years, there is an increasing demand for their further development. This demand is driven by the ever-increasing desire of society for easy accessibility to information in friendly, personalized and adaptive environments. In this book at hand, we examine recent Recommendation Services. Recommendation services appear in the mobile environment, medicine/biology, tourism, education, and so on. The book includes ten chapters, which present various recently developed recommendation services. This research book is directed to professors...

  18. [Genetic aspects of genealogy].

    Science.gov (United States)

    Tetushkin, E Iu

    2011-11-01

    The supplementary historical discipline genealogy is also a supplementary genetic discipline. In its formation, genetics borrowed from genealogy some methods of pedigree analysis. In the 21th century, it started receiving contribution from computer-aided genealogy and genetic (molecular) genealogy. The former provides novel tools for genetics, while the latter, which employing genetic methods, enriches genetics with new evidence. Genealogists formulated three main laws ofgenealogy: the law of three generations, the law of doubling the ancestry number, and the law of declining ancestry. The significance and meaning of these laws can be fully understood only in light of genetics. For instance, a controversy between the exponential growth of the number of ancestors of an individual, i.e., the law of doubling the ancestry number, and the limited number of the humankind is explained by the presence of weak inbreeding because of sibs' interference; the latter causes the pedigrees' collapse, i.e., explains also the law of diminishing ancestry number. Mathematic modeling of pedigrees' collapse presented in a number of studies showed that the number of ancestors of each individual attains maximum in a particular generation termed ancestry saturated generation. All representatives of this and preceding generation that left progeny are common ancestors of all current members of the population. In subdivided populations, these generations are more ancient than in panmictic ones, whereas in small isolates and social strata with limited numbers of partners, they are younger. The genealogical law of three generations, according to which each hundred years contain on average three generation intervals, holds for generation lengths for Y-chromosomal DNA, typically equal to 31-32 years; for autosomal and mtDNA, this time is somewhat shorter. Moving along ascending lineas, the number of genetically effective ancestors transmitting their DNA fragment to descendants increases far

  19. On Genetic and Evolution Algebras

    Science.gov (United States)

    Qaralleh, Izzat

    2017-03-01

    The genetic and evolution algebras generally are non-associative algebra. The concept of evolution and genetic algebras were introduced to answer the question what non-Mendelian genetics offers to mathematics. This paper we review some results of evolution and genetic algebras.

  20. Genetic aspects of female reproduction

    NARCIS (Netherlands)

    Collins, J.; Diedrich, K.; Franks, S.; Geraedts, J. P. M.; Jacobs, P. A.; Karges, B.; Kennedy, S.; Marozzi, A.; Regan, L.; Baird, D. T.; Crosignani, P. G.; Devroey, P.; Diczfalusy, E.; Evers, J. L. H.; Fauser, B. C. J. M.; Fraser, L.; Gianaroli, L.; Glasier, A.; Liebaers, I.; Ragni, G.; Sunde, A.; Tarlatzis, B.; Van Steirteghem, A.

    2008-01-01

    BACKGROUND: Sexual reproduction provides the means for preserving genetic identity and in turn, genetic variability may affect the ability to reproduce. This review aims to summarize current research on genetic diagnosis and genetic causes of reproductive disorders.METHODS: Searches were done by sub

  1. Exploring barriers to payer utilization of genetic counselors.

    Science.gov (United States)

    Doyle, Nan; Cirino, Allison; Trivedi, Amber; Flynn, Maureen

    2015-02-01

    Access to genetic counselors' services is neither universal nor automatic, due in part to the gatekeeper role of healthcare payers--the companies and agencies that purchase healthcare services on patients' behalf and control the bulk of healthcare spending. This pilot study surveyed and analyzed the relative importance of barriers to expanded payer coverage of genetic counselors' services. Surveys were mailed to 263 medical directors and quality assurance directors at health insurance carriers throughout the United States. Respondents provided demographic information and indicated the importance of nine possible barriers, plus an optional write-in "other." Twenty-two surveys were analyzed. "Evidence that use of genetic counselors improves health outcomes" led the list of factors having a significant/very significant influence on coverage policy. Sixteen respondents (73 %) rated this factor "4" or "5" on a Likert scale; it also received the most #1 rankings and the highest score using a weighted-mean analysis. Provider practice guidelines, CMS/Medicare regulations, and genetic counselor licensure-all of which are outside of payers' direct control-also ranked highly. The research demonstrates that although the potential barriers to expanded reimbursement for genetic counselors are numerous and complex, some are more consistently identified as important and therefore more deserving of legislative and advocacy resources to effect change. Future research should endeavor to increase survey response and include providers as well as payers.

  2. Genetics and educational psychology.

    Science.gov (United States)

    Plomin, Robert; Walker, Sheila O

    2003-03-01

    Molecular genetics, one of the most energetic and exciting areas of science, is slowly but surely coming to educational psychology. We review recent molecular genetic research on learning disabilities as a sign of things to come in educational psychology. We also consider some misconceptions about genetics that have slowed the acceptance of genetics in educational psychology. Diverse samples of children with learning disabilities have been studied, primarily in the UK and the USA. Linkage analysis can detect genes that have large effects on learning disabilities. Association analysis can detect genes of much smaller effect size, which is important because common disorders such as learning disabilities are likely to be influenced by many genes as well as by many environmental factors. For reading disability, replicated linkages have been identified on chromosomes 6, 15 and 18. A gene responsible for a rare type of language impairment has recently been identified. For common language impairment, linkages on chromosomes 16 and 19 have recently been reported. More than 200 genetic disorders, most extremely rare, include mental retardation among their symptoms, and chromosomal abnormalities are a major cause of mental retardation. Although finding specific genes associated with learning disabilities is unlikely to have much of a direct application for teachers in the classroom, such findings will have far-reaching implications for diagnosis, treatment and prevention of learning disabilities and for research in educational psychology. Educational psychology has been slower to accept evidence for the importance of genetics than other areas of psychology in part because of misconceptions about what it means to say that genetics is important for common complex disorders such as learning disabilities.

  3. Genetic of uveitis.

    Science.gov (United States)

    Pichi, Francesco; Carrai, Paola; Srivastava, Sunil K; Lowder, Careen Y; Nucci, Paolo; Neri, Piergiorgio

    2016-06-01

    Immune-mediated uveitis may be associated with a systemic disease or may be localized to the eye. T-cell-dependent immunological events are increasingly being regarded as extremely important in the pathogenesis of uveitis. Several studies have also shown that macrophages are major effectors of tissue damage in uveitis. Uveitis phenotypes can differ substantially, and most uveitis diseases are considered polygenic with complex inheritance patterns. This review attempts to present the current state of knowledge from in vitro and in vivo research on the role of genetics in the development and clinical course of uveitis. A review of the literature in the PubMed, MEDLINE, and Cochrane databases was conducted to identify clinical trials, comparative studies, case series, and case reports describing host genetic factors as well as immune imbalance which contribute to the development of uveitis. The search was limited to primary reports published in English with human subjects from 1990 to the present, yielding 3590 manuscripts. In addition, referenced articles from the initial searches were hand searched to identify additional relevant reports. After title and abstract selection, duplicate elimination, and manual search, 55 papers were selected for analysis and reviewed by the authors for inclusion in this review. Studies have demonstrated associations between various genetic factors and the development and clinical course of intraocular inflammatory conditions. Genes involved included genes expressing interleukins, chemokines, chemokine receptors, and tumor necrosis factor and genes involved in complement system. When considering the genetics of uveitis, common threads can be identified. Genome-wide scans and other genetic methods are becoming increasingly successful in identifying genetic loci and candidate genes in many inflammatory disorders that have a uveitic component. It will be important to test these findings as uveitis-specific genetic factors. Therefore, the

  4. Web services foundations

    CERN Document Server

    Bouguettaya, Athman; Daniel, Florian

    2013-01-01

    Web services and Service-Oriented Computing (SOC) have become thriving areas of academic research, joint university/industry research projects, and novel IT products on the market. SOC is the computing paradigm that uses Web services as building blocks for the engineering of composite, distributed applications out of the reusable application logic encapsulated by Web services. Web services could be considered the best-known and most standardized technology in use today for distributed computing over the Internet.Web Services Foundations is the first installment of a two-book collection coverin

  5. New Service Status Board

    CERN Multimedia

    2013-01-01

    On Monday 14 October, the Service Status Board for GS and IT will change. The new Status Board will be integrated with the CERN Service Portal and with the CERN Service Catalogue.   As of today, the SSB will display “Service Incidents”, “Planned Interventions” and “Service Changes”. References valid from 14 October: CERN SSB at https://cern.ch/ssb Computing SSB (previously IT SSB) at https://cern.ch/itssb   Nicole Cremel, IT and GS Service Management Support

  6. IT Service Management Architectures

    DEFF Research Database (Denmark)

    Tambo, Torben; Filtenborg, Jacob

    2017-01-01

    IT service providers tend to view their services as quasi-embedded in the client organisations infrastructure. Therefore, IT service providers lack a full picture of being an organisation with its own enterprise archicture. By systematically developing an enterprise architecture using the unifica......IT service providers tend to view their services as quasi-embedded in the client organisations infrastructure. Therefore, IT service providers lack a full picture of being an organisation with its own enterprise archicture. By systematically developing an enterprise architecture using...

  7. From observational to dynamic genetics

    Directory of Open Access Journals (Sweden)

    Claire M. A. Haworth

    2014-01-01

    Full Text Available Twin and family studies have shown that most traits are at least moderately heritable. But what are the implications of finding genetic influence for the design of intervention and prevention programs? For complex traits, heritability does not mean immutability, and research has shown that genetic influences can change with age, context and in response to behavioural and drug interventions. The most significant implications for intervention will come when we move from observational genetics to investigating dynamic genetics, including genetically sensitive interventions. Future interventions should be designed to overcome genetic risk and draw upon genetic strengths by changing the environment.

  8. Microsatellite Markers Assess Genetic Diversity of Wild Southeastern American Vaccinium

    Science.gov (United States)

    The United States Department of Agriculture (USDA)-Agricultural Research Service (ARS)-National Clonal Germplasm Repository (NCGR) in Corvallis, Oregon, USA preserves genetic resources of many temperate fruit crops, including blueberry. This genebank contains > 1,750 Vaccinium accessions from 39 cou...

  9. Developments in Genetic Understanding: Time To Engage with the Process.

    Science.gov (United States)

    Barr, Owen

    2002-01-01

    This editorial outlines how developments in our understanding of genetic information may raise new challenges for people with learning disabilities, their parents, and professionals working in learning disability services. It concludes by highlighting some key aspects professionals need to consider if they are to support effectively people who…

  10. Genetic Testing for Rare Cancer: The Wider Issues.

    Science.gov (United States)

    Jacobs, Chris; Pichert, Gabriella

    2016-01-01

    Identification of a potential genetic susceptibility to cancer and confirmation of a pathogenic gene mutation raises a number of challenging issues for the patient with cancer, their relatives and the health professionals caring for them. The specific risks and management issues associated with rare cancer types have been addressed in the earlier chapters. This chapter considers the wider issues involved in genetic counselling and genetic testing for a genetic susceptibility to cancer for patients, families and health professionals. The first part of the chapter will present the issues raised by the current practice in genetic counselling and genetic testing for cancer susceptibility. The second part of the chapter will address some of the issues raised by the advances in genetic testing technology and the future opportunities provided by personalised medicine and targeted cancer therapy. Facilitating these developments requires closer integration of genomics into mainstream cancer care, challenging the existing paradigm of genetic medicine, adding additional layers of complexity to the risk assessment and management of cancer and presenting wider issues for patients, families, health professionals and clinical services.

  11. Genetic profiling and individualized assessment of fracture risk.

    Science.gov (United States)

    Nguyen, Tuan V; Eisman, John A

    2013-03-01

    Osteoporosis and its consequence of fragility fracture impose a considerable demand on health-care services because fracture is associated with a series of adverse events, including re-fracture and mortality. One of the major priorities in osteoporosis care is the development of predictive models to identify individuals at high risk of fracture for early intervention and management. Existing predictive models include clinical factors and anthropometric characteristics but have not considered genetic variants in the prediction. Genome-wide association studies conducted in the past decade have identified several genetic variants relevant to fracture risk. These genetic variants are common in frequency but have very modest effect sizes. A remaining challenge is to use these genetic data to individualize fracture risk assessment on the basis of an individual's genetic risk profile. Empirical and simulation studies have shown that the usefulness of a single genetic variant for fracture risk assessment is very limited, but a profile of 50 genetic variants, each with odds ratio ranging from 1.02 to 1.15, could improve the accuracy of fracture prediction beyond that obtained by use of existing clinical risk factors. Thus, genetic profiling when integrated with existing risk assessment models could inform a more accurate prediction of fracture risk in an individual.

  12. Undergraduates Achieve Learning Gains in Plant Genetics through Peer Teaching of Secondary Students

    Science.gov (United States)

    Chrispeels, H. E.; Klosterman, M. L.; Martin, J. B.; Lundy, S. R.; Watkins, J. M.; Gibson, C. L.; Muday, G. K.

    2014-01-01

    This study tests the hypothesis that undergraduates who peer teach genetics will have greater understanding of genetic and molecular biology concepts as a result of their teaching experiences. Undergraduates enrolled in a non-majors biology course participated in a service-learning program in which they led middle school (MS) or high school (HS)…

  13. Molecular genetics of autism spectrum disorders.

    Science.gov (United States)

    Shastry, Barkur S

    2003-01-01

    Autistic disorder belongs to a broad spectrum of pervasive developmental disorders. Autism is a clinically and genetically heterogeneous condition. It is characterized by impairment in a broad range of social interactions, communication, and repetitive patterns of behavior and interest. Although the exact etiology of the condition is not known, family and twin studies strongly support genetic factors in autism. Genome-wide scans suggest several susceptibility loci that may contain one or more predisposing genes. However, no such genes have been identified so far that predispose patients to autism. The condition is over 90% heritable, but the mode of inheritance is not clear. Moreover, it does not seem to be a single gene disorder. There is no cure for autism. Individualized structured education, family support services, and antipsychotic drugs are recommended. These may alleviate some behavioral problems. The identification of autism genes, an understanding of the neurobiology of the condition, and additional clinical studies may help to develop pharmacological interventions in the future.

  14. Frequently Asked Questions about Genetic Counseling

    Science.gov (United States)

    ... on this page Frequently Asked Questions About Genetic Counseling What are genetic professionals and what do they ... genetics nurses. Top of page What is genetic counseling and evaluation? Genetic professionals work as members of ...

  15. Medical Virtual Public Services

    Directory of Open Access Journals (Sweden)

    Iulia SURUGIU

    2008-01-01

    Full Text Available The healthcare enterprises are very disconnected. This paper intends to propose a solution that will provide citizens, businesses and medical enterprises with improved access to medical virtual public services. Referred medical services are based on existing national medical Web services and which support medically required services provided by physicians and supplementary health care practitioners, laboratory services and diagnostic procedures, clinics and hospitals’ services. Requirements and specific rules of these medical services are considered, and personalization of user preferences will to be supported. The architecture is based on adaptable process management technologies, allowing for virtual services which are dynamically combined from existing national medical services. In this way, a comprehensive workflow process is set up, allowing for service-level agreements, an audit trail and explanation of the process to the end user. The process engine operates on top of a virtual repository, providing a high-level semantic view of information retrieved from heterogeneous information sources, such as national sources of medical services. The system relies on a security framework to ensure all high-level security requirements are met. System’s architecture is business oriented: it focuses on Service Oriented Architecture - SOA concepts, asynchronously combining Web services, Business Process Management – BPM rules and BPEL standards.

  16. Genetic diversity and disease susceptibility.

    OpenAIRE

    Bodmer, W F

    1997-01-01

    The range of genetic diversity within human populations is enormous. Genetic susceptibility to common chronic disease is a significant part of this genetic diversity, which also includes a variety of rare clear-cut inherited diseases. Modern DNA-based genomic analysis can now routinely lead to the identification of genes involved in disease susceptibility, provides the basis for genetic counselling in affected families, and more widely for a genetically targeted approach to disease prevention...

  17. Genetics of gallstone disease.

    Directory of Open Access Journals (Sweden)

    Mittal B

    2002-04-01

    Full Text Available Gallstone disease is a complex disorder where both environmental and genetic factors contribute towards susceptibility to the disease. Epidemiological and family studies suggest a strong genetic component in the causation of this disease. Several genetically derived phenotypes in the population are responsible for variations in lipoprotein types, which in turn affect the amount of cholesterol available in the gall bladder. The genetic polymorphisms in various genes for apo E, apo B, apo A1, LDL receptor, cholesteryl ester transfer and LDL receptor-associated protein have been implicated in gallstone formation. However, presently available information on genetic differences is not able to account for a large number of gallstone patients. The molecular studies in the animal models have not only confirmed the present paradigm of gallstone formation but also helped in identification of novel genes in humans, which might play an important role in pathogenesis of the disease. Precise understanding of such genes and their molecular mechanisms may provide the basis of new targets for rational drug designs and dietary interventions.

  18. Microtia: epidemiology and genetics.

    Science.gov (United States)

    Luquetti, Daniela V; Heike, Carrie L; Hing, Anne V; Cunningham, Michael L; Cox, Timothy C

    2012-01-01

    Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The reported prevalence varies among regions, from 0.83 to 17.4 per 10,000 births, and the prevalence is considered to be higher in Hispanics, Asians, Native Americans, and Andeans. The etiology of microtia and the cause of this wide variability in prevalence are poorly understood. Strong evidence supports the role of environmental and genetic causes for microtia. Although some studies have identified candidate genetic variants for microtia, no causal genetic mutation has been confirmed. The application of novel strategies in developmental biology and genetics has facilitated elucidation of mechanisms controlling craniofacial development. In this paper we review current knowledge of the epidemiology and genetics of microtia, including potential candidate genes supported by evidence from human syndromes and animal models. We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: Neural crest cells disturbance, vascular disruption, and altitude.

  19. The American College of Medical Genetics, the first 20 years.

    Science.gov (United States)

    Rimoin, David L

    2011-03-01

    The American College of Medical Genetics (ACMG) celebrates its 20th anniversary this month, having been founded in March of 1991. The ACMG has firmly established itself as a major medical association representing the needs of the many patients with genetic disorders and the expanding number of genetic clinical and laboratory professionals that strive to diagnose, treat and prevent these disorders. Over the last two decades they have had major accomplishments related to their original mission: They have become members of the American Medical Association House of Delegates and the American Board of Medical Specialists, pushed through laboratory Current Procedural Terminology codes, developed a manual for billing and reimbursement, have been active in a number of national arenas including Health and Human Services, Food and Drug Administration, Center for Disease Control, National Institutes of Health and with other professional organizations (College of American Pathologists, American College of Obstetricians and Gynecologists, American Society of Clinical Oncology). They have secured grant funding, developed major educational programs (Board courses, MOC modules, CD-ROMS), a well respected medical journal, a successful and well attended annual meeting, major relationships with industry, and have been leaders in the legal arena, challenging patents for genetic testing, etc. In the future, the tools and knowledge of medical genetics will permeate all of medicine and the ACMG should embrace, encourage and assist all of those varying medical specialists, counselors, nurses and scientists who are involved in providing genetic services.

  20. SSN Verification Service

    Data.gov (United States)

    Social Security Administration — The SSN Verification Service is used by Java applications to execute the GUVERF02 service using the WebSphere/CICS Interface. It accepts several input data fields...

  1. The Customer Service Experience.

    Science.gov (United States)

    Bell, Chip R.

    2001-01-01

    Discusses ways to embed customer service learning and customer loyalty including making customers think, examining every aspect of customers' service encounters with staff, providing follow-up, making learning fun, and involving customers in your business. (JOW)

  2. NAIP Public Image Services

    Data.gov (United States)

    Farm Service Agency, Department of Agriculture — This map provides a preview and information about the National Agriculture Imagery Program (NAIP) image services available on the APFO public image server. Click on...

  3. The Customer Service Experience.

    Science.gov (United States)

    Bell, Chip R.

    2001-01-01

    Discusses ways to embed customer service learning and customer loyalty including making customers think, examining every aspect of customers' service encounters with staff, providing follow-up, making learning fun, and involving customers in your business. (JOW)

  4. FRS REST Services

    Science.gov (United States)

    FRS exposes several REST services that allows developers to utilize a live feed of data from the FRS database. This web page is intended for a technical audience and describes the content and purpose of each service available.

  5. Denying or Delivering Services?

    Science.gov (United States)

    Kirk, Stuart A.; Greenley, James R.

    1974-01-01

    Many who apply to agencies for service do not receive it. To make service more accessible, changing the behavior patterns of organizations may be as important as changing organizational structure. (Author)

  6. Human Services Offices

    Data.gov (United States)

    Fairfax County, Virginia — This data contains point features representing the human services offices within Fairfax County.“HS_Region” is the office for each human services region, “DFS_Area”...

  7. Virtual reference services

    OpenAIRE

    Márdero Arellano, Miguel Ángel

    2001-01-01

    Analysis of virtual reference services, their standandars and new technologies that have changed the tradicional practice at the library’s reference desk. Major American virtual reference services initiatives and their characteristics are described.

  8. Reusable Component Services

    Data.gov (United States)

    U.S. Environmental Protection Agency — The Reusable Component Services (RCS) is a super-catalog of components, services, solutions and technologies that facilitates search, discovery and collaboration in...

  9. Earthquake Notification Service

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — The Earthquake Notification Service (ENS) is a free service that sends you automated notifications to your email or cell phone when earthquakes happen.

  10. Emergency Medical Services

    Science.gov (United States)

    ... and need help right away, you should use emergency medical services. These services use specially trained people and specially equipped facilities. You may need care in the hospital emergency room (ER). Doctors and nurses there treat emergencies, ...

  11. Appropriate levels of service

    CSIR Research Space (South Africa)

    Wall, K

    2010-02-01

    Full Text Available The term "services", as used in this article, broadly refers to infrastructure (in particular, civil and electrical engineering infrastructure), and also the infrastructure elements such as schools, clinics and halls. The term "basic services...

  12. Specialized Investment Services

    Science.gov (United States)

    Burgess, Robert S.

    1970-01-01

    The informational needs of the investing public should be met by the public library. Suggestions for specialized investment information services with broad appeal, technical charts, and advisory services which public libraries might consider purchasing. (JS)

  13. State of Services Report

    Data.gov (United States)

    Social Security Administration — A comprehensive monthly report portraying customer experience with our various service options. The State of Services is shared with the ACOSS and is presented to...

  14. Bioethical – Theological and Legal approach in genetic testing of adult persons

    Directory of Open Access Journals (Sweden)

    George Katsimigas

    2012-07-01

    Full Text Available Thorough genetic testing gives possibility's diagnosis of genetic diseases or identity individuals, who genetic predisposed for disease outbreak Aims: To present/identify the ethical and religious issues, which arise from the application of genetic testing in humans. Furthermore, the principles from the European and Greek legislation regarding genetic testing will be discussed. Materials & Methods: A literature review based on both review and research literature, conducted during the period of (1993-2010, derived from MEDLINE, SCOPUS and ΙΑΤΡΟΤΕΚ databases using as key words: Bioethics, genetic testing, bioethics, access, genetic information, orthodox ethics, Legislation. Results: Genetic testing for disease prevention is of primary importance. The main ethical concerns however, are related to the dissemination/ disclosure and use of this information from insurance companies, healthcare authorities, scientists, forensic departments/services and employers. Similarly, the orthodox religion accepts the use of genetic testing for the prevention and treatment of diseases as long as there is no break of confidentiality. Finally, considering the legal issues, it is apparent that genetic information is regarded as personal information and as such it is protected from the national (Greek and international law. Conclusions: It is necessary to ensure that the public authorities protect the rights of their citizens regarding genetic testing and all insurance companies, employers, schools etc. should not be allowed to have access to genetic information. Such an approach will ensure that social discrimination, obstructions or other inequalities between people on the basis of genetic information is avoided.

  15. Triple Play Service and IPTV Services Offered within it

    Directory of Open Access Journals (Sweden)

    Dagmar Pajdusakova

    2008-01-01

    Full Text Available This paper deals with Triple Play multimedia service and figures its architecture. Triple Play offers voice, video and data services together in one customer connection. There is offered IPTV (Internet Protocol Television service within this service, where we can include also Video on Demand service and other different additional services. In the paper is described classification of Video on Demand services.

  16. Whakapapa, genealogy and genetics.

    Science.gov (United States)

    Evans, Donald

    2012-05-01

    This paper provides part of an analysis of the use of the Maori term whakapapa in a study designed to test the compatibility and commensurability of views of members of the indigenous culture of New Zealand with other views of genetic technologies extant in the country. It is concerned with the narrow sense of whakapapa as denoting biological ancestry, leaving the wider sense of whakapapa as denoting cultural identity for discussion elsewhere. The phenomenon of genetic curiosity is employed to facilitate this comparison. Four levels of curiosity are identified, in the Maori data, which penetrate more or less deeply into the psyche of individuals, affecting their health and wellbeing. These phenomena are compared with non-Maori experiences and considerable commonalities are discovered together with a point of marked difference. The results raise important questions for the ethical application of genetic technologies.

  17. Isolation by distance, web service

    Directory of Open Access Journals (Sweden)

    Bohonak Andrew J

    2005-03-01

    Full Text Available Abstract Background The population genetic pattern known as "isolation by distance" results from spatially limited gene flow and is a commonly observed phenomenon in natural populations. However, few software programs exist for estimating the degree of isolation by distance among populations, and they tend not to be user-friendly. Results We have created Isolation by Distance Web Service (IBDWS a user-friendly web interface for determining patterns of isolation by distance. Using this site, population geneticists can perform a variety of powerful statistical tests including Mantel tests, Reduced Major Axis (RMA regression analysis, as well as calculate FST between all pairs of populations and perform basic summary statistics (e.g., heterozygosity. All statistical results, including publication-quality scatter plots in Postscript format, are returned rapidly to the user and can be easily downloaded. Conclusion IBDWS population genetics analysis software is hosted at http://phage.sdsu.edu/~jensen/ and documentation is available at http://www.bio.sdsu.edu/pub/andy/IBD.html. The source code has been made available on Source Forge at http://sourceforge.net/projects/ibdws/.

  18. Industry Service - Technology Centre

    DEFF Research Database (Denmark)

    Hollensen, Svend; Grünbaum, Niels Nolsøe

    2011-01-01

    The chapter describes and explains the development of an Industry Service Technology (IS-T) portal solution at Danfoss for testing of products, including booking system for standardised 'service packages' in order to reduce waiting time.......The chapter describes and explains the development of an Industry Service Technology (IS-T) portal solution at Danfoss for testing of products, including booking system for standardised 'service packages' in order to reduce waiting time....

  19. Holding services to account

    OpenAIRE

    2008-01-01

    Background Recently, the frequency of audit inspections of health services for people with intellectual disability (ID) in the UK has increased, from occasional inquiries to a systematic audit of all services. From 2008, a process of continuous audit ‘surveillance’ of specialist health services is to be introduced. Similar regimes of inspection are in place for social care services. Aim To explore the conceptual positions which inform audit, through detailed examination of the investigation i...

  20. Service Level Status

    CERN Multimedia

    Lopienski, S

    2007-01-01

    Nowadays, IT departments provide, and people use, computing services of an increasingly heterogeneous nature. There is thus a growing need for a status display that groups these different services and reports status and availability in a uniform way. The Service Level Status (SLS) system addresses these needs by providing a web-based display that dynamically shows availability, basic information and statistics about various IT services, as well as the dependencies between them.

  1. Talking about Customer Service.

    Science.gov (United States)

    Talley, Mary; Axelroth, Joan

    2001-01-01

    Discusses customer service in information centers and how to define it. Topics include the effects of competition, that give customers more choices; defining customers, and defining services; communications; physical environment; change, in customers and in technology; measuring customer service; and evaluating policies and procedures. (LRW)

  2. Dosimetry service removal

    CERN Multimedia

    Safety Commission

    2010-01-01

    Dear personal dosimeter user, Please note that the Dosimetry service has moved in building 55, the service is now located in the main floor: 55-R-004. Main floor instead of second floor. On your right hand when accessing in the building. Thank you Dosimetry Service

  3. IT Service Management Architectures

    DEFF Research Database (Denmark)

    Tambo, Torben; Filtenborg, Jacob

    2017-01-01

    IT service providers tend to view their services as quasi-embedded in the client organisations infrastructure. Therefore, IT service providers lack a full picture of being an organisation with its own enterprise archicture. By systematically developing an enterprise architecture using...

  4. Rights to ecosystem services

    NARCIS (Netherlands)

    Davidson, M.

    2014-01-01

    Ecosystem services are the benefits people obtain from ecosystems. Many of these services are provided outside the borders of the land where they are produced; this article investigates who is entitled to these non-excludable ecosystem services from two libertarian perspectives. Taking a

  5. Genetics of opiate addiction.

    Science.gov (United States)

    Reed, Brian; Butelman, Eduardo R; Yuferov, Vadim; Randesi, Matthew; Kreek, Mary Jeanne

    2014-11-01

    Addiction to MOP-r agonists such as heroin (and also addiction to prescription opioids) has reemerged as an epidemic in the twenty first century, causing massive morbidity. Understanding the genetics contributing to susceptibility to this disease is crucial for the identification of novel therapeutic targets, and also for discovery of genetic markers which would indicate relative protection or vulnerability from addiction, and relative responsiveness to pharmacotherapy. This information could thus eventually inform clinical practice. In this review, we focus primarily on association studies of heroin and opiate addiction, and further describe the studies which have been replicated in this field, and are thus more likely to be useful for translational efforts.

  6. Genetics and caries: prospects

    Directory of Open Access Journals (Sweden)

    Alexandre Rezende Vieira

    2012-01-01

    Full Text Available Caries remains the most prevalent non-contagious infectious disease in humans. It is clear that the current approaches to decrease the prevalence of caries in human populations, including water fluoridation and school-based programs, are not enough to protect everyone. The scientific community has suggested the need for innovative work in a number of areas in cariology, encompassing disease etiology, epidemiology, definition, prevention, and treatment. We have pioneered the work on genetic studies to identify genes and genetic markers of diagnostic, prognostic, and therapeutic value. This paper summarizes a presentation that elaborated on these initial findings.

  7. Genetic engineering of cyanobacteria

    DEFF Research Database (Denmark)

    Jacobsen, Jacob Hedemand

    , including genetic tools that allow metabolic engineering. The cyanobacterial phylum represents a diverse group of aerobic photosynthetic bacteria that are widespread in nature. Cyanobacteria shaped our atmosphere by oxygen evolution through the splitting of water using energy from sunlight. The sole carbon...... and characterized for growth phenotype and glycogen content. While no difference in growth rate or glycogen content was detected between the phosphorylase double mutant and wild type strain, we found that both glycogen phophyrylases must be genetically inactivated to eliminate glycogen phosphorylase activity...

  8. Genetically engineered yeast

    DEFF Research Database (Denmark)

    2014-01-01

    A genetically modified Saccharomyces cerevisiae comprising an active fermentation pathway producing 3-HP expresses an exogenous gene expressing the aminotransferase YhxA from Bacillus cereus AH1272 catalysing a transamination reaction between beta-alanine and pyruvate to produce malonate semialde......A genetically modified Saccharomyces cerevisiae comprising an active fermentation pathway producing 3-HP expresses an exogenous gene expressing the aminotransferase YhxA from Bacillus cereus AH1272 catalysing a transamination reaction between beta-alanine and pyruvate to produce malonate...

  9. Genetic craniofacial aberrations.

    Science.gov (United States)

    Pirinen, S

    1998-12-01

    Many craniofacial and dental anomalies have a genetic background. Much research related to the molecular pathology of genetic conditions is being carried out, and new information related to mapping of disease genes, gene identification, and mutations in these genes is accumulating with incredible speed. It is important to be well informed of the molecular background of the conditions that we treat at anomaly clinics. This article reviews the most recent molecular findings related to Turner syndrome, Beckwith-Wiedemann syndrome, Marfan syndrome, Treacher Collins syndrome, cleidocranial dysplasia, and cleft lip and palate.

  10. Cartesian genetic programming

    CERN Document Server

    Miller, Julian F

    2011-01-01

    Cartesian Genetic Programming (CGP) is a highly effective and increasingly popular form of genetic programming. It represents programs in the form of directed graphs, and a particular characteristic is that it has a highly redundant genotype - phenotype mapping, in that genes can be noncoding. It has spawned a number of new forms, each improving on the efficiency, among them modular, or embedded, CGP, and self-modifying CGP. It has been applied to many problems in both computer science and applied sciences. This book contains chapters written by the leading figures in the development and appli

  11. [Genetic aspects of schizophrenia].

    Science.gov (United States)

    Morozova, A Yu; Zubkov, E A; Zorkina, Ya A; Reznik, A M; Kostyuk, G P; Chekhonin, V P

    Schizophrenia is a disease with a complex non-Mendelian inheritance mechanism in most cases involving the combined action of a large number of genes. Identifying of genomic variations associated with schizophrenia endophenotypes has a great potential. This review describes genetic markers of the disease, current methods of their analysis, including genome-wide association study (GWAS). Certain genes with mutations that increase the risk of schizophrenia are described. Functional polymorphisms with phenotypic expression, which are significantly associated with clinical manifestation of schizophrenia, can serve as useful genetic markers. The authors highlight that currently there are no certain susceptibility genes. Further global research and search for markers in different population groups are needed.

  12. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah;

    2016-01-01

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying...... mutations. METHODS: We sent out a survey to 16 genetic centers performing SCN1A testing. RESULTS: We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. CONCLUSION: We...

  13. [Genetics of migraine].

    Science.gov (United States)

    Ducros, A

    2013-05-01

    The aim of genetic studies in migraine is to identify key proteins in order to better understand the molecular mechanisms of this frequent but still incompletely understood condition. This review describes the current knowledge in the field of migraine genetics. Migraine genes have been, and still are, difficult to identify. The more common varieties of migraine are characterized by a high prevalence in the general population, and a high phenotypic variability. In the absence of any objective diagnosis marker, the status for genetic studies is established only clinically. The first breakthrough was permitted by the study of familial hemiplegic migraine, a variety of migraine with motor aura. This rare condition has a monogenic, autosomal dominant mode of inheritance, thus enabling genetic studies. The three first genes, identified from 1996 to 2005, all encode ion-channel transporters: a neuronal calcium channel (CACNA1A, FHM1), a glial sodium/potassium pump (ATP1A2, FHM2) and a neuronal sodium channel (SCN1A, FHM3). Study of cellular and animal models have shown that mutations in CACNA1A and ATP1A2 facilitated the initiation of cortical spreading depression waves, the mechanism underlying the migraine aura, and most likely increased neuronal excitability with an excess of glutamatergic neurotransmission. In 2012, PRRT2 has been identified as the fourth FHM gene, and encodes an axonal protein associated to the exocytosis complex. In the 1990s, family and twin studies showed that the more common varieties of migraine (migraine without aura and migraine with typical aura) were polygenic, with an overall heritability nearing 50 %. These genetic factors interact with environmental factors. The initial attempts to identify migraine genes by candidate gene approaches or by linkage studies were deceiving. Since 2010, three large genome-wide association studies (GWAS) have identified six genetic variants associated with migraine. Each variant has only a modest

  14. Archaeal extrachromosomal genetic elements

    DEFF Research Database (Denmark)

    Wang, Haina; Peng, Nan; Shah, Shiraz Ali

    2015-01-01

    SUMMARY: Research on archaeal extrachromosomal genetic elements (ECEs) has progressed rapidly in the past decade. To date, over 60 archaeal viruses and 60 plasmids have been isolated. These archaeal viruses exhibit an exceptional diversity in morphology, with a wide array of shapes, such as spind......SUMMARY: Research on archaeal extrachromosomal genetic elements (ECEs) has progressed rapidly in the past decade. To date, over 60 archaeal viruses and 60 plasmids have been isolated. These archaeal viruses exhibit an exceptional diversity in morphology, with a wide array of shapes...

  15. Broadband Radio Service (BRS) and Educational Broadband Service (EBS) Transmitters

    Data.gov (United States)

    Department of Homeland Security — The Broadband Radio Service (BRS), formerly known as the Multipoint Distribution Service (MDS)/Multichannel Multipoint Distribution Service (MMDS), is a commercial...

  16. The genetics of the epilepsies.

    Science.gov (United States)

    El Achkar, Christelle M; Olson, Heather E; Poduri, Annapurna; Pearl, Phillip L

    2015-07-01

    While genetic causes of epilepsy have been hypothesized from the time of Hippocrates, the advent of new genetic technologies has played a tremendous role in elucidating a growing number of specific genetic causes for the epilepsies. This progress has contributed vastly to our recognition of the epilepsies as a diverse group of disorders, the genetic mechanisms of which are heterogeneous. Genotype-phenotype correlation, however, is not always clear. Nonetheless, the developments in genetic diagnosis raise the promise of a future of personalized medicine. Multiple genetic tests are now available, but there is no one test for all possible genetic mutations, and the balance between cost and benefit must be weighed. A genetic diagnosis, however, can provide valuable information regarding comorbidities, prognosis, and even treatment, as well as allow for genetic counseling. In this review, we will discuss the genetic mechanisms of the epilepsies as well as the specifics of particular genetic epilepsy syndromes. We will include an overview of the available genetic testing methods, the application of clinical knowledge into the selection of genetic testing, genotype-phenotype correlations of epileptic disorders, and therapeutic advances as well as a discussion of the importance of genetic counseling.

  17. Improved genetic operator for genetic algorithm

    Institute of Scientific and Technical Information of China (English)

    林峰; 杨启文

    2002-01-01

    The mutation operator has been seldom improved because researchers ha rdly suspect its ability to prevent genetic algorithm (GA) from converging prema turely. Due to its i mportance to GA, the authors of this paper study its influence on the diversity of genes in the same locus, and point out that traditional mutation, to some ext ent, can result in premature convergence of genes (PCG) in the same locus. The a bove drawback of the traditional mutation operator causes the loss of critical a lleles. Inspired by digital technique, we introduce two kinds of boolean operati on into GA to develop a novel mutation operator and discuss its contribution to preventing the loss of critical alleles. The experimental results of function op timization show that the improved mutation operator can effectively prevent prem ature convergence, and can provide a wide selection range of control parameters for GA.

  18. Improved genetic operator for genetic algorithm

    Institute of Scientific and Technical Information of China (English)

    林峰; 杨启文

    2002-01-01

    The mutation operator has been seldom improved because ressearchers hardly suspect its ability to prevent genetic algorithm(GA) from converging prematurely.Due to its importance to GA,the authors of this paper study influence on the diversity of genes in the same locus,and point out that traditional mutation,to some extent,can result in premature convergence of genes(PCG) in the same locus.The above drawback of the traditional mutation operator causes the loss of critical alleles.Inspired by digital technique,we introduce two kinds of boolean operation into GA to develop a novel mutation operator and discuss its contribution of preventing the loss of critical alleles.The experimental results of function optimizatioin show that the improved mutation operator can effectively prevent premature convegence,and can provide a wide selection range of control parameters for GA.

  19. CopperCore Service Integration

    Science.gov (United States)

    Vogten, Hubert; Martens, Harrie; Nadolski, Rob; Tattersall, Colin; van Rosmalen, Peter; Koper, Rob

    2007-01-01

    In an e-learning environment there is a need to integrate various e-learning services like assessment services, collaboration services, learning design services and communication services. In this article we present the design and implementation of a generic integrative service framework, called CopperCore Service Integration (CCSI). We will…

  20. Rocky Mountain Center for Conservation Genetics and Systematics

    Science.gov (United States)

    Oyler-McCance, S.J.; Quinn, T.W.

    2005-01-01

    The use of molecular genetic tools has become increasingly important in addressing conservation issues pertaining to plants and animals. Genetic information can be used to augment studies of population dynamics and population viability, investigate systematic, refine taxonomic definitions, investigate population structure and gene flow, and document genetic diversity in a variety of plant and animal species. Further, genetic techniques are being used to investigate mating systems through paternity analysis, and analyze ancient DNA samples from museum specimens, and estimate population size and survival rates using DNA as a unique marker. Such information is essential for the sound management of small, isolated populations of concern and is currently being used by universities, zoos, the U.S. Fish and Wildlife Service, and numerous state fish and wildlife agencies.

  1. High availability IT services

    CERN Document Server

    Critchley, Terry

    2014-01-01

    This book starts with the basic premise that a service is comprised of the 3Ps-products, processes, and people. Moreover, these entities and their sub-entities interlink to support the services that end users require to run and support a business. This widens the scope of any availability design far beyond hardware and software. It also increases the potential for service failure for reasons beyond just hardware and software; the concept of logical outages. High Availability IT Services details the considerations for designing and running highly available ""services"" and not just the systems

  2. Advanced web services

    CERN Document Server

    Bouguettaya, Athman; Daniel, Florian

    2013-01-01

    Web services and Service-Oriented Computing (SOC) have become thriving areas of academic research, joint university/industry research projects, and novel IT products on the market. SOC is the computing paradigm that uses Web services as building blocks for the engineering of composite, distributed applications out of the reusable application logic encapsulated by Web services. Web services could be considered the best-known and most standardized technology in use today for distributed computing over the Internet. This book is the second installment of a two-book collection covering the state-o

  3. Research on user-aware QoS based Web services composition

    Institute of Scientific and Technical Information of China (English)

    LIU Feng; LEI Zhen-ming

    2009-01-01

    To improve user experience of composite Web services, a user-aware quality of service (QoS) based Web services composition model is proposed. Under such model, a Web services selection method based on quantum genetic algorithm is proposed. This algorithm uses quantum bit encoding, dynamic step-length quantum gate angle adjustment, neighborhood service search and dynamic punishment strategy to expand search scope and speed up convergence. Simulation experiment shows that this algorithm is more efficient than other existing algorithms in Web services selection.

  4. Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues

    Energy Technology Data Exchange (ETDEWEB)

    Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S. (Morehouse Coll., Atlanta, GA (United States). School of Medicine); Crandall, L.A.; Moseley, R.E.; Armotrading, D. (Florida Univ., Gainesville, FL (United States). Coll. of Medicine)

    1993-01-01

    Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia's system of Children's Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as to educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.

  5. Service Modularity and Architecture

    DEFF Research Database (Denmark)

    Brax, Saara A.; Bask, Anu; Hsuan, Juliana

    2017-01-01

    Purpose: Services are highly important in a world economy which has increasingly become service driven. There is a growing need to better understand the possibilities for, and requirements of, designing modular service architectures. The purpose of this paper is to elaborate on the roots of the e......Purpose: Services are highly important in a world economy which has increasingly become service driven. There is a growing need to better understand the possibilities for, and requirements of, designing modular service architectures. The purpose of this paper is to elaborate on the roots...... of the emerging research stream on service modularity, provide a concise overview of existing work on the subject, and outline an agenda for future research on service modularity and architecture. The articles in the special issue offer four diverse sets of research on service modularity and architecture. Design....../methodology/approach: The paper is built on a literature review mapping the current body of literature on the topic and developing future research directions in service modularity and architecture. Findings: The growing focus on services has triggered needs to investigate the suitability and implementation of physical...

  6. Genetics for the general internist.

    Science.gov (United States)

    Laukaitis, Christina M

    2012-01-01

    The internist's goal is to determine a patient's disease risk and to implement preventative interventions. Genetic evaluation is a powerful risk assessment tool, and new interventions target previously untreatable genetic disorders. The purpose of this review is to educate the general internist about common genetic conditions affecting adult patients, with special emphasis on diagnoses with an effective intervention, including hereditary cancer syndromes and cardiovascular disorders. Basic tenets of genetic counseling, complex genetic disease, and management of adults with genetic diagnoses also are discussed. Copyright © 2012 Elsevier Inc. All rights reserved.

  7. Genetics and acronyms

    Directory of Open Access Journals (Sweden)

    Giovanni Corsello

    2014-06-01

    Full Text Available In a global society as the present, the nomenclature and terminology of diseases must be universally accepted among the specialists. This sentence is particularly true in some fields of medicine, as genetics, in which the progress of knowledge has been particularly rapid in last years.Many genetic disorders were termed using the names of the doctor (or the doctors who discovered and described them.The name of doctors and specialist were also frequently used to term sign and symptoms of diseases, including genetic syndromes.More rarely, a new disease received the name of the first patients described.In some cases the authors clearly proposed acronyms, that rapidly diffused as a good method to term genetic diseases and syndromes.Acronyms can be originated from the initial of main signs and symptoms; in some instances the acronym reproduces a word with other kind of semantic suggestions; some acronyms in their list of initials show also numbers, while others show also the initial of the words related to the physiopathology of disease.In more recent years acronyms were proposed to mark multicentric studies. Proceedings of the 10th International Workshop on Neonatology · Cagliari (Italy · October 22nd-25th, 2014 · The last ten years, the next ten years in Neonatology Guest Editors: Vassilios Fanos, Michele Mussap, Gavino Faa, Apostolos Papageorgiou

  8. Genetics of alcoholism.

    Science.gov (United States)

    Edenberg, Howard J; Foroud, Tatiana

    2014-01-01

    Multiple lines of evidence strongly indicate that genetic factors contribute to the risk for alcohol use disorders (AUD). There is substantial heterogeneity in AUD, which complicates studies seeking to identify specific genetic factors. To identify these genetic effects, several different alcohol-related phenotypes have been analyzed, including diagnosis and quantitative measures related to AUDs. Study designs have used candidate gene analyses, genetic linkage studies, genomewide association studies (GWAS), and analyses of rare variants. Two genes that encode enzymes of alcohol metabolism have the strongest effect on AUD: aldehyde dehydrogenase 2 and alcohol dehydrogenase 1B each has strongly protective variants that reduce risk, with odds ratios approximately 0.2-0.4. A number of other genes important in AUD have been identified and replicated, including GABRA2 and alcohol dehydrogenases 1B and 4. GWAS have identified additional candidates. Rare variants are likely also to play a role; studies of these are just beginning. A multifaceted approach to gene identification, targeting both rare and common variations and assembling much larger datasets for meta-analyses, is critical for identifying the key genes and pathways important in AUD.

  9. Genetic susceptibility of periodontitis

    NARCIS (Netherlands)

    Laine, M.L.; Crielaard, W.; Loos, B.G.

    2012-01-01

    In this systematic review, we explore and summarize the peer-reviewed literature on putative genetic risk factors for susceptibility to aggressive and chronic periodontitis. A comprehensive literature search on the PubMed database was performed using the keywords ‘periodontitis’ or ‘periodontal dise

  10. Genetics of metabolic syndrome.

    Science.gov (United States)

    Stančáková, Alena; Laakso, Markku

    2014-12-01

    Metabolic syndrome (MetS) is a cluster of metabolic traits associated with an increased risk of cardiovascular disease and type 2 diabetes mellitus. Central obesity and insulin resistance are thought to play key roles in the pathogenesis of the MetS. The MetS has a significant genetic component, and therefore linkage analysis, candidate gene approach, and genome-wide association (GWA) studies have been applied in the search of gene variants for the MetS. A few variants have been identified, located mostly in or near genes regulating lipid metabolism. GWA studies for the individual components of the MetS have reported several loci having pleiotropic effects on multiple MetS-related traits. Genetic studies have provided so far only limited evidence for a common genetic background of the MetS. Epigenetic factors (DNA methylation and histone modification) are likely to play important roles in the pathogenesis of the MetS, and they might mediate the effects of environmental exposures on the risk of the MetS. Further research is needed to clarify the role of genetic variation and epigenetic mechanisms in the development of the MetS.

  11. Genetic Resources of Watermelon

    Science.gov (United States)

    As a result of many years of domestication and selection for desirable fruit quality, watermelon cultivars (Citrullus lanatus) share a narrow genetic base. Africa is the center of origin and diversity of watermelon and is considered to be the central continent for collecting and conserving useful ge...

  12. Genetics Home Reference: microphthalmia

    Science.gov (United States)

    ... J Ophthalmol. 2010 Aug;94(8):1100-4. doi: 10.1136/bjo.2009.173500. Epub 2010 May 21. Citation on PubMed Iseri SU, Wyatt AW, Nürnberg G, Kluck C, ... Hum Genet. 2010 Jul;128(1):51-60. doi: 10.1007/s00439-010-0823-6. Epub 2010 ...

  13. Genetics of osteoporosis

    NARCIS (Netherlands)

    S.H. Ralston (Stuart); A.G. Uitterlinden (André)

    2010-01-01

    textabstractOsteoporosis is a common disease with a strong genetic component characterized by reduced bone mass, defects in the microarchitecture of bone tissue, and an increased risk of fragility fractures. Twin and family studies have shown high heritability of bone mineral density (BMD) and other

  14. Pregnancy, cardiomyopathies, and genetics

    NARCIS (Netherlands)

    Van Tintelen, J. Peter; Pieper, Petronella G.; Van Spaendonck-Zwarts, Karin Y.; Van den Berg, Maarten P.

    2014-01-01

    Although familial forms of cardiomyopathy such as hypertrophic or dilated cardiomyopathy have been recognized for decades, it is only recently that much of the genetic basis of these inherited cardiomyopathies has been elucidated. This has provided important insights into the pathophysiological mech

  15. Cancer: Some genetic considerations

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2014-09-22

    Sep 22, 2014 ... quite reasonable, as cancer is primarily a genetic alteration, lack of .... induced by malignant transformation impart to the cell new ... involved in this mysterious biological behavior of cells. ... the preservation of the evolutionary ability of the zygote ... by genomic regulatory mechanisms controlled by master.

  16. Pregnancy, cardiomyopathies, and genetics

    NARCIS (Netherlands)

    Van Tintelen, J. Peter; Pieper, Petronella G.; Van Spaendonck-Zwarts, Karin Y.; Van den Berg, Maarten P.

    2014-01-01

    Although familial forms of cardiomyopathy such as hypertrophic or dilated cardiomyopathy have been recognized for decades, it is only recently that much of the genetic basis of these inherited cardiomyopathies has been elucidated. This has provided important insights into the pathophysiological

  17. Safe genetically engineered plants

    Science.gov (United States)

    Rosellini, D.; Veronesi, F.

    2007-10-01

    The application of genetic engineering to plants has provided genetically modified plants (GMPs, or transgenic plants) that are cultivated worldwide on increasing areas. The most widespread GMPs are herbicide-resistant soybean and canola and insect-resistant corn and cotton. New GMPs that produce vaccines, pharmaceutical or industrial proteins, and fortified food are approaching the market. The techniques employed to introduce foreign genes into plants allow a quite good degree of predictability of the results, and their genome is minimally modified. However, some aspects of GMPs have raised concern: (a) control of the insertion site of the introduced DNA sequences into the plant genome and of its mutagenic effect; (b) presence of selectable marker genes conferring resistance to an antibiotic or an herbicide, linked to the useful gene; (c) insertion of undesired bacterial plasmid sequences; and (d) gene flow from transgenic plants to non-transgenic crops or wild plants. In response to public concerns, genetic engineering techniques are continuously being improved. Techniques to direct foreign gene integration into chosen genomic sites, to avoid the use of selectable genes or to remove them from the cultivated plants, to reduce the transfer of undesired bacterial sequences, and make use of alternative, safer selectable genes, are all fields of active research. In our laboratory, some of these new techniques are applied to alfalfa, an important forage plant. These emerging methods for plant genetic engineering are briefly reviewed in this work.

  18. Genetics and Genomics

    Science.gov (United States)

    Good progress is being made on genetics and genomics of sugar beet, however it is in process and the tools are now being generated and some results are being analyzed. The GABI BeetSeq project released a first draft of the sugar beet genome of KWS2320, a dihaploid (see http://bvseq.molgen.mpg.de/Gen...

  19. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah

    2016-01-01

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying...

  20. Intelligence, Race, and Genetics

    Science.gov (United States)

    Sternberg, Robert J.; Grigorenko, Elena L.; Kidd, Kenneth K.

    2005-01-01

    In this article, the authors argue that the overwhelming portion of the literature on intelligence, race, and genetics is based on folk taxonomies rather than scientific analysis. They suggest that because theorists of intelligence disagree as to what it is, any consideration of its relationships to other constructs must be tentative at best. They…

  1. Genetically Engineering Entomopathogenic Fungi.

    Science.gov (United States)

    Zhao, H; Lovett, B; Fang, W

    2016-01-01

    Entomopathogenic fungi have been developed as environmentally friendly alternatives to chemical insecticides in biocontrol programs for agricultural pests and vectors of disease. However, mycoinsecticides currently have a small market share due to low virulence and inconsistencies in their performance. Genetic engineering has made it possible to significantly improve the virulence of fungi and their tolerance to adverse conditions. Virulence enhancement has been achieved by engineering fungi to express insect proteins and insecticidal proteins/peptides from insect predators and other insect pathogens, or by overexpressing the pathogen's own genes. Importantly, protein engineering can be used to mix and match functional domains from diverse genes sourced from entomopathogenic fungi and other organisms, producing insecticidal proteins with novel characteristics. Fungal tolerance to abiotic stresses, especially UV radiation, has been greatly improved by introducing into entomopathogens a photoreactivation system from an archaean and pigment synthesis pathways from nonentomopathogenic fungi. Conversely, gene knockout strategies have produced strains with reduced ecological fitness as recipients for genetic engineering to improve virulence; the resulting strains are hypervirulent, but will not persist in the environment. Coupled with their natural insect specificity, safety concerns can also be mitigated by using safe effector proteins with selection marker genes removed after transformation. With the increasing public concern over the continued use of synthetic chemical insecticides and growing public acceptance of genetically modified organisms, new types of biological insecticides produced by genetic engineering offer a range of environmentally friendly options for cost-effective control of insect pests. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Genetic Algoritm Eclipse Mapping

    Science.gov (United States)

    Halevin, A. V.

    In this paper we analyse capabilities of eclipse mapping technique, based on genetic algorithm optimization. To model of accretion disk we used the "fire-flies" conception. This model allows us to reconstruct the distribution of radiating medium in the disk using less number of free parameters than in other methods. Test models show that we can achieve good approximation without optimizing techniques.

  3. Demonstration: Genetic Jewelry

    Science.gov (United States)

    Atkins, Thomas; Roderick, Joyce

    2006-01-01

    In order for students to understand genetics and evolution, they must first understand the structure of the DNA molecule. The function of DNA proceeds from its unique structure, a structure beautifully adapted for information storage, transcription, translation into amino acid sequences, replication, and time travel. The activity described in this…

  4. Genetic Determinants of Depression

    NARCIS (Netherlands)

    S. López León (Sandra)

    2008-01-01

    textabstractThe aim of the studies in this genetic epidemiological thesis was to investigate candidate genes that play a role in the etiology of depression and to obtain new insights about biological pathways that may be involved in this disorder. The introduction of the thesis presents a review of

  5. Maize Genetic Resources

    Science.gov (United States)

    This chapter describes the resources held at the Maize Genetics Cooperation • Stock Center in detail and also provides some information about the North Central Regional Plant Introduction Station (NCRPIS) in Ames, IA, Centro Internacional de Mejoramiento de Maiz y Trigo (CIMMYT) in Mexico, and the N...

  6. Genetic Immunity to AIDS

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    In an article on genetic immunity to AIDS published in Science magazine, American and Chinese scientists claim to have discovered why certain HIV carriers do not develop full-blown AIDS. They say that the key to this conundrum lies in a particular protein in the endocrine system that inhibits development of HIV.

  7. Genetics of celiac disease

    NARCIS (Netherlands)

    Ricano-Ponce, Isis; Wijmenga, Cisca; Gutierrez-Achury, Javier

    2015-01-01

    New insights into the underlying molecular pathophysiology of celiac disease (CeD) over the last few years have been guided by major advances in the fields of genetics and genomics. The development and use of the Immunochip genotyping platform paved the way for the discovery of 39 non-HLA loci assoc

  8. The genetics of obesity.

    Science.gov (United States)

    All definitions of the metabolic syndrome include some form of obesity as one of the possible features. Body mass index (BMI) has a known genetic component, currently estimated to account for about 70% of the population variance in weight status for non-syndromal obesity. Much research effort has be...

  9. Paper Genetic Engineering.

    Science.gov (United States)

    MacClintic, Scott D.; Nelson, Genevieve M.

    Bacterial transformation is a commonly used technique in genetic engineering that involves transferring a gene of interest into a bacterial host so that the bacteria can be used to produce large quantities of the gene product. Although several kits are available for performing bacterial transformation in the classroom, students do not always…

  10. Genetic variation in variability

    NARCIS (Netherlands)

    Mulder, Herman; Gienapp, Phillip; Visser, Marcel E.

    2016-01-01

    Variation in traits is essential for natural selection to operate and genetic and environmental effects can contribute to this phenotypic variation. From domesticated populations, we know that families can differ in their level of within-family variance, which leads to the intriguing situation th

  11. Genetics Home Reference: phenylketonuria

    Science.gov (United States)

    ... musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin ... Success (GEMSS) MalaCards: phenylketonuria March of Dimes Montreal Children's ... Technology, and Research in Genetics Swedish Information Center for ...

  12. Preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Karin Writzl

    2013-02-01

    Conclusions: Over the last two decades, PGD has been shown to be a reliable and safe genetic test for couples who are at risk of a specific inher - ited disorder. For PGS, the results from several ongoing randomized controlled trials performed at different cell biopsy stage, using array-CGH and SNP array will provide the data needed to evaluate the clinical efficacy.

  13. Genetics and immunology: reinvigorated

    Science.gov (United States)

    Snyder, Alexandra; Makarov, Vladimir; Hellmann, Matthew; Rizvi, Naiyer; Merghoub, Taha; Wolchok, Jedd D; Chan, Timothy A

    2015-01-01

    Immune checkpoint blockade therapy is changing oncology by improving the outcome of patients with advanced malignancies. Our research has revealed the genetic features of tumors present in patients who initiate a successful antitumor immune response and derive clinical benefit from immune checkpoint blockade therapy versus non-responders. PMID:26451299

  14. Molecular genetics of ependymoma

    Institute of Scientific and Technical Information of China (English)

    Yuan Yao; Stephen C.Mack; Michael D.Taylor

    2011-01-01

    Brain tumors are the leading cause of cancer death in children,with ependymoma being the third most common and posing a significant clinical burden.Its mechanism of pathogenesis,reliable prognostic indicators,and effective treatments other than surgical resection have all remained elusive.Until recently,cytogenetic techniques,and lack of cell lines and animal models.Ependymoma heterogeneity,which manifests as variations in tumor location,patient age,histological grade,and clinical behavior,together with the observation of a balanced genomic profile in up to 50% of cases,presents additional challenges in understanding the development and progression of this disease.Despite these difficulties,we have made significant headway in the past decade in identifying the genetic alterations and pathways involved in ependymoma tumorigenesis through collaborative efforts and the application of microarray-based genetic (copy number) and transcriptome profiling platforms.Genetic characterization of ependymoma unraveled distinct mRNA-defined subclasses and led to the identification of radial glial cells as its cell type of origin.This review summarizes our current knowledge in the molecular genetics of ependymoma and proposesfuture research directions necessary to further advance this field.

  15. GENETIC ASPECTS OF AUTISM

    Directory of Open Access Journals (Sweden)

    Anastas LAKOSKI

    1997-06-01

    Full Text Available In the first paper on the syndrome of autism, Kanner described it as innate and inborn. He drew attention to the abnormalities in infancy without evidence of prior normal development and the intellectual, non emotional qualities shown by many of the parents and grandparents. Subsequently, the supposed lack of parental warmth led many clinicians to abandon the notions of constitutional deficit in the child and instead to postulate a psychogenic origin etiology was likely, genetic factors probably did not play a major role. Attention was draw to the low rate of autism in siblings, the lack of chromosome anomalies, and the similarities with syndromes associated with known brain trauma. Although the rate of autism in siblings was indeed low, it was much higher than in the general population rate providing a strong pointer to the genetic factors. The recognition that this was so, associated with the parallel finding of apparently high familiar loading for language delay, stimulated the first, systematic, twin study of autism, which suggested a strong genetic component. Subsequent research has produced findings in the same direction, although many questions remain unanswered. In this paper the evidence that has accumulated on genetic influences on autism is summarized and the remained dilemmas on this field are discussed.

  16. Data mining for service

    CERN Document Server

    2014-01-01

    Virtually all nontrivial and modern service related problems and systems involve data volumes and types that clearly fall into what is presently meant as "big data", that is, are huge, heterogeneous, complex, distributed, etc. Data mining is a series of processes which include collecting and accumulating data, modeling phenomena, and discovering new information, and it is one of the most important steps to scientific analysis of the processes of services.  Data mining application in services requires a thorough understanding of the characteristics of each service and knowledge of the compatibility of data mining technology within each particular service, rather than knowledge only in calculation speed and prediction accuracy. Varied examples of services provided in this book will help readers understand the relation between services and data mining technology. This book is intended to stimulate interest among researchers and practitioners in the relation between data mining technology and its application to ...

  17. Organization of rehabilitation services.

    Science.gov (United States)

    Graham, Laura A

    2013-01-01

    In the past 20 years there have been many changes in the way that neurological rehabilitation is delivered worldwide. This is in part a reflection of improved acute medical therapies and intensive care and also related to the development of a more holistic approach to recovery, embracing the principles of the WHO International Classification of Functioning as a model for rehabilitation. Traditionally, rehabilitation services have tended to develop piecemeal according to local resources and need. By definition such services should be driven by a patient-centered approach and thus there is wide variety in service provision nationally and internationally. This chapter describes the background to current service set-ups and provision, exploring models of rehabilitation delivery and common presentations in neurological rehabilitation. Relevant legislation and guidance documents are reviewed. The text provides an overview of different aspects of rehabilitation services including acute and inpatient provision, outpatient services, community-based rehabilitation, residential facilities, and vocational services.

  18. Coproduction of healthcare service.

    Science.gov (United States)

    Batalden, Maren; Batalden, Paul; Margolis, Peter; Seid, Michael; Armstrong, Gail; Opipari-Arrigan, Lisa; Hartung, Hans

    2016-07-01

    Efforts to ensure effective participation of patients in healthcare are called by many names-patient centredness, patient engagement, patient experience. Improvement initiatives in this domain often resemble the efforts of manufacturers to engage consumers in designing and marketing products. Services, however, are fundamentally different than products; unlike goods, services are always 'coproduced'. Failure to recognise this unique character of a service and its implications may limit our success in partnering with patients to improve health care. We trace a partial history of the coproduction concept, present a model of healthcare service coproduction and explore its application as a design principle in three healthcare service delivery innovations. We use the principle to examine the roles, relationships and aims of this interdependent work. We explore the principle's implications and challenges for health professional development, for service delivery system design and for understanding and measuring benefit in healthcare services.

  19. Teachers' Conceptions about the Genetic Determinism of Human Behaviour: A Survey in 23 Countries

    Science.gov (United States)

    Castéra, Jérémy; Clément, Pierre

    2014-01-01

    This work analyses the answers to a questionnaire from 8,285 in-service and pre-service teachers from 23 countries, elaborated by the Biohead-Citizen research project, to investigate teachers' conceptions related to the genetic determinism of human behaviour. A principal components analysis is used to assess the main trends in all the interviewed…

  20. Genetic algorithms for route discovery.

    Science.gov (United States)

    Gelenbe, Erol; Liu, Peixiang; Lainé, Jeremy

    2006-12-01

    Packet routing in networks requires knowledge about available paths, which can be either acquired dynamically while the traffic is being forwarded, or statically (in advance) based on prior information of a network's topology. This paper describes an experimental investigation of path discovery using genetic algorithms (GAs). We start with the quality-of-service (QoS)-driven routing protocol called "cognitive packet network" (CPN), which uses smart packets (SPs) to dynamically select routes in a distributed autonomic manner based on a user's QoS requirements. We extend it by introducing a GA at the source routers, which modifies and filters the paths discovered by the CPN. The GA can combine the paths that were previously discovered to create new untested but valid source-to-destination paths, which are then selected on the basis of their "fitness." We present an implementation of this approach, where the GA runs in background mode so as not to overload the ingress routers. Measurements conducted on a network test bed indicate that when the background-traffic load of the network is light to medium, the GA can result in improved QoS. When the background-traffic load is high, it appears that the use of the GA may be detrimental to the QoS experienced by users as compared to CPN routing because the GA uses less timely state information in its decision making.

  1. Fostering Informed Choice: Alleviating the Trauma of Genetic Abortions.

    Science.gov (United States)

    Asbury, Bret D

    2015-01-01

    Each year, thousands of pregnant women learn of fetal abnormalities through prenatal genetic analysis. This discovery--made after a woman has initially declined to exercise her right to abort an unwanted pregnancy—raises the difficult and heart-wrenching question of whether to terminate on genetic grounds. Women considering a genetic abortion rely on information and support from health care providers to assist them in making their choice. Though intended to be objective and nondirective, the support women receive frequently provides them within complete and incomprehensible information having the effect of encouraging them to abort genetically anomalous fetuses. As a result, genetic terminations--which cause severe and long-standing psychological impacts such as pathological grief, depression and post-traumatic stress—are often the result of something other than a fully informed choice.Congress and eleven states have recognized the importance of better informing choice by passing legislation aimed at providing clearer and more balanced information to expectant mothers learning of fetal genetic abnormalities. But existing legislative remedies do not adequately address this problem, and this inadequacy will become more pronounced in future years as increases in access to prenatal genetic analysis further stretch the capabilities of the available support services.This Article describes the unique characteristics of terminations for a fetal abnormality, their troubling and persistent psychological impacts,and the reasons why they will become more common in future years. It then offers proposals for how to reconfigure the prenatal genetic counseling landscape in order to reduce the incidence of genetic terminations based on incomplete or misleading information, thereby alleviating their distinct psychological costs. Its overall objective is to ensure that women learning of prenatal genetic abnormalities have access to complete and comprehensible information prior to

  2. Oprelvekin. Genetics Institute.

    Science.gov (United States)

    Sitaraman, S V; Gewirtz, A T

    2001-10-01

    Genetics Institute has developed and launched oprelvekin (rhIL-11; Neumega), a recombinant form of human IL-11. In November 1997, the FDA cleared oprelvekin for the prevention of severe thrombocytopenia and the reduction of the need for platelet transfusions following myelosuppressive chemotherapy in susceptible patients with non-myeloid malignancies 12703021. The product was launched at the end of 1997 [312556]. By December 1999, phase III trials for Crohn's disease (CD) were underway [363007]. Genetics Institute had commenced a 150-patient phase II trial for mild-to-moderate CD and mucositis and the company planned to file regulatory procedures for the indication of CD in 1999 [271210]. An oral formulation for this indication has been developed. Oprelvekin is also undergoing phase I clinical trials for colitis [396157], phase II clinical trials for rheumatoid arthritis [413835] and clinical trials for psoriasis [299644]. In March 1997, Wyeth-Ayerst became the licensee for Europe, Africa, Latin America and Asia (with the exception of Japan). Genetics Institute holds marketing rights for North America [239273]. In Japan, oprelvekin is being developed by Genetics Institute and Yamanouchi; phase III trials have commenced [295049] and were ongoing in May 2001 [411763]. In April 1996, analysts at Yamaichi estimated launch in 2001 and maximum annual sales of over yen 10 billion [215896]. In January 1998, Morgan Stanley Dean Witter predicted Yamanouchi's share of sales to be yen 1 billion in 2001, rising to yen 2 billion in 2002 [315458]. Sales of oprelvekin were US $34 million for Genetics institute in fiscal 2000 while, in July 2001, Credit Suisse First Boston estimated that this figure will be US $30 million and US $34 million in 2001 and 2002, respectively [416883].

  3. The genetics of diabetes

    Directory of Open Access Journals (Sweden)

    Barjaktarović Nada

    2007-01-01

    Full Text Available Pathogenesis of diabetes is still a mystery for medicine, the real challenge currently being the identification of genetic factors and specific mutations that cause the disease. Heterogeneity of diabetes hampers research, only a few loci inside the human genome being correlated with predisposition for disease till now. Insulin-dependent diabetes - IDDM (T1DM develops through autoimmune destruction of pancreatic beta cells. HLA complex on the short arm of chromosome 6 (6p21, where very important genes responsible for immunological condition of the person are located, plays a very important role in genetic predisposition for T1DM. Beside this region, there are also other loci in the human genome (on chromosomes 1, 2 and 11 where a correlation with T1DM has been shown. Correlation between HLA systems and T1DM was first described for class I alleles, but recently attention has been drawn to class II loci which seem to be the cause of primary predisposition for T1DM. In the case of non-insulin-dependent diabetes - NIDDM (T2DM, the situation proved to be even more complex. Only a few genetic loci on chromosomes 11, 13 and 20 and MODY variant on chromosomes 7 and 12 have been identified by now. There are two theories about genetic basis of T2DM: the first stipulates that the genetic predisposition is determined through numerous loci, each individually responsible for a small part of predisposition; the second claims that there are a limited number of "major" genes probably functioning on a polygenic basis. Further research in this area is definitely needed to enable an accurate calculation of the risks of the disease and possible consequences during a lifetime of a person.

  4. 76 FR 4726 - Avaya Global Services, AOS Service Delivery, Worldwide Services Group, Including Workers Whose...

    Science.gov (United States)

    2011-01-26

    ... Employment and Training Administration Avaya Global Services, AOS Service Delivery, Worldwide Services Group... Assistance on October 20, 2010, applicable to workers of Avaya Global Services, AOS Service Delivery... Avaya Global Services, AOS Service Delivery had their wages reported through a separate...

  5. Service mining framework and application

    CERN Document Server

    Chang, Wei-Lun

    2014-01-01

    The shifting focus of service from the 1980s to 2000s has proved that IT not only lowers the cost of service but creates avenues to enhance and increase revenue through service. The new type of service, e-service, is mobile, flexible, interactive, and interchangeable. While service science provides an avenue for future service researches, the specific research areas from the IT perspective still need to be elaborated. This book introduces a novel concept-service mining-to address several research areas from technology, model, management, and application perspectives. Service mining is defined as "a systematical process including service discovery, service experience, service recovery, and service retention to discover unique patterns and exceptional values within the existing services." The goal of service mining is similar to data mining, text mining, or web mining, and aims to "detect something new" from the service pool. The major difference is the feature of service is quite distinct from the mining targe...

  6. Guidelines for genetic testing of inherited cardiac disorders.

    Science.gov (United States)

    Ingles, Jodie; Zodgekar, Poonam R; Yeates, Laura; Macciocca, Ivan; Semsarian, Christopher; Fatkin, Diane

    2011-11-01

    Inherited gene variants have been implicated increasingly in cardiac disorders but the clinical impact of these discoveries has been variable. For some disorders, such as familial hypertrophic cardiomyopathy, long QT syndrome, and familial hypercholesterolaemia, genetic testing has a high yield and has become an integral part of family management. For other disorders, including dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and atrial fibrillation, relatively less is known about the genes involved and genetic testing has a lower yield. Recent advances in sequencing and array-based technologies promise to change the landscape of our understanding of the genetic basis of human disease and will dramatically increase the rate of detection of genomic variants. Since every individual is expected to harbour thousands of variants, many of which may be novel, interpretation of the functional significance of any single variant is critical, and should be undertaken by experienced personnel. Genotype results can have a wide range of medical and psychosocial implications for affected and unaffected individuals and hence, genetic testing should be performed in a specialised cardiac genetic clinic or clinical genetics service where appropriate family management and genetic counselling can be offered. Copyright © 2011 Australasian Society of Cardiac and Thoracic Surgeons and the Cardiac Society of Australia and New Zealand. Published by Elsevier B.V. All rights reserved.

  7. Genetic professionals' views on genetic counsellors: a French survey.

    Science.gov (United States)

    Cordier, Christophe; Taris, Nicolas; Moldovan, Ramona; Sobol, Hagay; Voelckel, Marie-Antoinette

    2016-01-01

    The genetic counselling profession was established in France in 2004. Eight years later, 122 genetic counsellors have graduated from the unique educational French program which awards the Professional Master Degree of Human Pathology, entitled "Master of Genetic Counselling and Predictive Medicine". As part of a global evaluation of this new profession by health genetic professionals, we undertook a national survey investigating various aspects such as employment, work responsibilities and integration. To our knowledge, this is the first study to investigate the views of genetic professionals on the genetic counsellors' role. Of 422 French professionals invited to take part in this study, 126 participated. The survey underlines that this profession is significantly recognized by physicians practicing within genetics departments. French genetic counsellors are allowed to manage consultations independently, without the necessary presence of a qualified medical geneticist but under his or her responsibility. Genetic counsellors participate in a wide range of consultations. They provide both information for relevant and for genetic testing and sometimes disclose the genetic test result to patient. Eventually, the role of genetic counsellors appears to be directly dependent from the relationship of trust between the two health professions.

  8. Global Mapping of Provisioning Ecosystem Services

    Science.gov (United States)

    Bingham, Lisa; Straatsma, Menno; Karssenberg, Derek

    2016-04-01

    Attributing monetary value to ecosystem services for decision-making has become more relevant as a basis for decision-making. There are a number of problematic aspects of the calculations, including consistency of economy represented (e.g., purchasing price, production price) and determining which ecosystem subservices to include in a valuation. While several authors have proposed methods for calculating ecosystem services and calculations are presented for global and regional studies, the calculations are mostly broken down into biomes and regions without showing spatially explicit results. The key to decision-making for governments is to be able to make spatial-based decisions because a large spatial variation may exist within a biome or region. Our objective was to compute the spatial distribution of global ecosystem services based on 89 subservices. Initially, only the provisioning ecosystem service category is presented. The provisioning ecosystem service category was calculated using 6 ecosystem services (food, water, raw materials, genetic resources, medical resources, and ornaments) divided into 41 subservices. Global data sets were obtained from a variety of governmental and research agencies for the year 2005 because this is the most data complete and recent year available. All data originated either in tabular or grid formats and were disaggregated to 10 km cell length grids. A lookup table with production values by subservice by country were disaggregated over the economic zone (either marine, land, or combination) based on the spatial existence of the subservice (e.g. forest cover, crop land, non-arable land). Values express the production price in international dollars per hectare. The ecosystem services and the ecosystem service category(ies) maps may be used to show spatial variation of a service within and between countries as well as to specifically show the values within specific regions (e.g. countries, continents), biomes (e.g. coastal, forest

  9. A proposal for clinical genetics (genetics in medicine) education for medical technologists and other health professionals in Japan.

    Science.gov (United States)

    Kohzaki, Hidetsugu

    2014-01-01

    Since the completion of the Human Genome Project, technology has developed markedly in fields such as medical genetics and genetic counseling in the medical arena. In particular, this technology has advanced the discovery of and ways of understanding various genes responsible for genetic diseases, and genetic polymorphisms thought to be associated with disease. Some have been implicated as factors in common lifestyle diseases and have increased the significance of genetic testing. In Japan, doctors and other health professionals, such as nurse and medical technologists have been engaged in genetic testing and genetic disease treatment. Chromosomal and gene aberrations were detected mainly by medical technologists. However, due to the nature of medical technologists who have to provide various clinical tests, such as blood test, pre-medical technology students are required to cover tremendous knowledge of different academic fields to pass the national exam. Therefore, the time allowed for such students to study chromosomal and gene analysis is quite limited. Moreover, they are forced to enter the medical setting without receiving sufficient training. Among them, only few medical technologists specialize in chromosomal and gene analysis. However, with the advancement of clinical genetics and development of chromosomal and gene analysis, conducting clinical practice is becoming more and more difficult for medical technologists who just passed the national exam. Also, doctors and other health professionals have not been able to keep up with service demands either. This paper attempts to address knowledge and skills gaps (especially clinical genetics, English, and ICT literacy) of medical technologists and we propose educational methods to prepare medical genetics professionals in Japan to meet these gaps.

  10. Focusing on customer service.

    Science.gov (United States)

    1996-01-01

    This booklet is devoted to a consideration of how good customer service in family planning programs can generate demand for products and services, bring customers back, and reduce costs. Customer service is defined as increasing client satisfaction through continuous concern for client preferences, staff accountability to clients, and respect for the rights of clients. Issues discussed include the introduction of a customer service approach and gaining staff commitment. The experience of PROSALUD in Bolivia in recruiting appropriate staff, supervising staff, soliciting client feedback, and marketing services is offered as an example of a successful customer service approach. The key customer service functions are described as 1) establishing a welcoming atmosphere, 2) streamlining client flow, 3) personalizing client services, and 4) organizing and providing clear information to clients. The role of the manager in developing procedures is explored, and the COPE (Client-Oriented Provider-Efficient) process is presented as a good way to begin to make improvements. Techniques in staff training in customer service include brainstorming, role playing, using case studies (examples of which are provided), and engaging in practice sessions. Training also leads to the development of effective customer service attitudes, and the differences between these and organizational/staff-focused attitudes are illustrated in a chart. The use of communication skills (asking open-ended questions, helping clients express their concerns, engaging in active listening, and handling difficult situations) is considered. Good recovery skills are important when things go wrong. Gathering and using client feedback is the next topic considered. This involves identifying, recording, and discussing customer service issues as well as taking action on these issues and evaluating the results. The booklet ends by providing a sample of customer service indicators, considering the maintenance of a

  11. Software as a Service, Platform as a Service, Infrastructure as a Service − A Review

    Directory of Open Access Journals (Sweden)

    Sumit Goyal

    2013-11-01

    Full Text Available Cloud services have revolutionized the dynamics of IT industry. Cloud computing provides scalable and virtualized resources as services over the Internet. Cloud offers three types of services: Software as a Service (SaaS, Platform as a Service (PaaS, and Infrastructure as a Service (IaaS. This investigation encapsulates all these services from industry’s point of view, identifies various cloud paradigms promising to deliver these services, and discusses pros & cons of these services. This write-up contributes to the knowledge of cloud services by reviewing the benefits and barriers in adopting cloud services, and also predicts the future of cloud services.

  12. Evolutionary Genetics: Reuse, Recycle, Converge.

    Science.gov (United States)

    Miller, Charles J J; Matute, Daniel R

    2016-09-26

    Our understanding of how genetic changes underlie the evolution of traits is growing fast. Two new studies now show that changes in the same genetic loci can drive the evolution of the same trait in multiple Drosophila species.

  13. [Genetic information and future medicine].

    Science.gov (United States)

    Sakurai, Akihiro

    2012-11-01

    Rapid technological advances in genetic analysis have revealed the genetic background of various diseases. Elucidation of the genes responsible for a disease enables better clinical management of the disease and helps to develop targeted drugs. Also, early diagnosis and management of at-risk family members can be made by identification of a genetic disease in the proband. On the other hand, genetic issues often cause psychological distress to the family. To perform genetic testing appropriately and to protect patients and family members from any harm, guidelines for genetic testing were released from the alliance of Japanese genetics-related academic societies in 2003. As genetic testing is becoming incorporated into clinical practice more broadly, the guideline was revised and released by the Japanese Society of Medical Sciences in 2011. All medical professionals in Japan are expected to follow this guideline.

  14. Genetics, Disease Prevention and Treatment

    Science.gov (United States)

    ... the genetic terms used on this page Genetics, Disease Prevention and Treatment Overview How can learning about my family's health history help me prevent disease? How can I learn about my family's health ...

  15. Genetics Home Reference: breast cancer

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions breast cancer breast cancer Enable ...

  16. Genetics Home Reference: Gitelman syndrome

    Science.gov (United States)

    ... Genetic Testing (1 link) Genetic Testing Registry: Familial hypokalemia-hypomagnesemia General Information from MedlinePlus (5 links) Diagnostic ... my area? Other Names for This Condition familial hypokalemia-hypomagnesemia Gitelman's syndrome GS hypokalemia-hypomagnesemia, primary renotubular, ...

  17. Genetics Home Reference: Ollier disease

    Science.gov (United States)

    ... Information & Resources MedlinePlus (1 link) Health Topic: Bone Diseases Genetic and Rare Diseases Information Center (1 link) Ollier disease Educational Resources (5 links) Atlas of Genetics and Cytogenetics in Oncology and Haematology Disease InfoSearch: ...

  18. Genetics Home Reference: osteogenesis imperfecta

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions osteogenesis imperfecta osteogenesis imperfecta Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Osteogenesis imperfecta (OI) is a group of genetic disorders that ...

  19. Selected Readings in Genetic Engineering

    Science.gov (United States)

    Mertens, Thomas R.; Robinson, Sandra K.

    1973-01-01

    Describes different sources of readings for understanding issues and concepts of genetic engineering. Broad categories of reading materials are: concerns about genetic engineering; its background; procedures; and social, ethical and legal issues. References are listed. (PS)

  20. What Froze the Genetic Code?

    National Research Council Canada - National Science Library

    Lluís Ribas de Pouplana; Adrian Gabriel Torres; albert Rafels-Ybern

    2017-01-01

    The frozen accident theory of the Genetic Code was a proposal by Francis Crick that attempted to explain the universal nature of the Genetic Code and the fact that it only contains information for twenty amino acids...

  1. Synthetic biology and genetic causation.

    Science.gov (United States)

    Oftedal, Gry; Parkkinen, Veli-Pekka

    2013-06-01

    Synthetic biology research is often described in terms of programming cells through the introduction of synthetic genes. Genetic material is seemingly attributed with a high level of causal responsibility. We discuss genetic causation in synthetic biology and distinguish three gene concepts differing in their assumptions of genetic control. We argue that synthetic biology generally employs a difference-making approach to establishing genetic causes, and that this approach does not commit to a specific notion of genetic program or genetic control. Still, we suggest that a strong program concept of genetic material can be used as a successful heuristic in certain areas of synthetic biology. Its application requires control of causal context, and may stand in need of a modular decomposition of the target system. We relate different modularity concepts to the discussion of genetic causation and point to possible advantages of and important limitations to seeking modularity in synthetic biology systems. Copyright © 2013 Elsevier Ltd. All rights reserved.

  2. Genetics Home Reference: spondylocostal dysostosis

    Science.gov (United States)

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions spondylocostal dysostosis spondylocostal dysostosis Enable ...

  3. Genetics Home Reference: thanatophoric dysplasia

    Science.gov (United States)

    ... Other Names for This Condition Dwarf, thanatophoric thanatophoric dwarfism thanatophoric short stature Related Information How are genetic ... 3 links) Health Topic: Craniofacial Abnormalities Health Topic: Dwarfism Health Topic: Respiratory Failure Genetic and Rare Diseases ...

  4. Psychiatric genetics in South Africa

    African Journals Online (AJOL)

    Pippa

    . Psychiatric genetic studies in South Africa seem to involve relatively low-cost methodologies and only a ... Xhosa population shows a significant genetic contribution from ...... Venter M, Warnich L. A pharmacogenetic study of CD4 recovery in.

  5. Inside Look at Genetic Counseling

    Science.gov (United States)

    ... us An Inside Look at Genetic Counseling Katie Lewis is a genetic counselor and research coordinator at ... sequencing looks at almost all of a person’s genes. The basic idea is that the sequencing can ...

  6. NCI Dictionary of Genetics Terms

    Science.gov (United States)

    A dictionary of more than 150 genetics-related terms written for healthcare professionals, developed to support the comprehensive, evidence-based, peer-reviewed PDQ cancer genetics information summaries.

  7. Genetics Home Reference: Blau syndrome

    Science.gov (United States)

    ... a site of injury or disease to fight microbial invaders and facilitate tissue repair. The NOD2 gene ... What are the different ways in which a genetic condition can be inherited? More about Inheriting Genetic ...

  8. Genetics Home Reference: maple syrup urine disease

    Science.gov (United States)

    ... links) Genetic Testing Registry: Classical maple syrup urine disease Genetic Testing Registry: Intermediate maple syrup urine disease Genetic Testing Registry: Maple syrup urine disease Other Diagnosis ...

  9. LEGAL ASPECTS OF DIRECT-TO-CONSUMER GENETIC TESTS.

    Directory of Open Access Journals (Sweden)

    Mariela Yaneva – Deliverska

    2011-06-01

    Full Text Available Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. The main difference between direct-to-consumer genetic testing and the standard genetic testing is the way informational support is provided in internet offers of testing. Counselling may be offered as an additional special service at extra costs and at the customer's request. It may also be that a recommendation or at least an offer is given for the customer to contact a doctor or health practitioner from the company via phone for counselling.In a liberal society the fundamental individual rights can be considered to include access to medical treatment and diagnostics that may be helpful for improving one's health condition or that can help an individual make decisions regarding life style and health. At the European level, there are no binding legal regulations that specifically apply for genetic testing. In some European counties, national laws, require a responsible medical person to be involved before a genetic test is provided. The Convention on Human Rights and Biomedicine was adopted by the Committee of Ministers on 19 November 1996, while an Additional Protocol to the Convention, concerning Genetic Testing for Health Purposes, was adopted by the Committee of Ministers on 7 May 2008.Direct-to-consumer genetic testing is closely watched by the community of medical genetics and counsellors, and the EU funded Eurogentest Network of Excellence.In 2010, the European Society of Human Genetics has releaseda statement on direct-to-consumer gene testing for health-related purposes. The European Society of Human Genetics is concerned about the way in which commercial companies are

  10. Ethical Issues in Health Services: A Report and Annotated Bibliography.

    Science.gov (United States)

    Carmody, James

    This publication identifies, discusses, and lists areas for further research for five ethical issues related to health services: 1) the right to health care; 2) death and euthanasia; 3) human experimentation; 4) genetic engineering; and, 5) abortion. Following a discussion of each issue is a selected annotated bibliography covering the years 1967…

  11. Genetics and epigenetics of obesity

    OpenAIRE

    Blanca M Herrera; Keildson, Sarah; Lindgren, Cecilia M.

    2011-01-01

    Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40–70%), the search for genetic variants contributing to susceptibility has been a challenging task. Genome wide association (GWA) studies have dramatically changed the pace of detection of common genetic susceptibility variants. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these v...

  12. Foundations of genetic algorithms 1991

    CERN Document Server

    1991-01-01

    Foundations of Genetic Algorithms 1991 (FOGA 1) discusses the theoretical foundations of genetic algorithms (GA) and classifier systems.This book compiles research papers on selection and convergence, coding and representation, problem hardness, deception, classifier system design, variation and recombination, parallelization, and population divergence. Other topics include the non-uniform Walsh-schema transform; spurious correlations and premature convergence in genetic algorithms; and variable default hierarchy separation in a classifier system. The grammar-based genetic algorithm; condition

  13. Genetics and epigenetics of obesity

    OpenAIRE

    Herrera, Blanca M; Keildson, Sarah; Lindgren, Cecilia M

    2011-01-01

    Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40–70%), the search for genetic variants contributing to susceptibility has been a challenging task. Genome wide association (GWA) studies have dramatically changed the pace of detection of common genetic susceptibility variants. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these v...

  14. A library-based bioinformatics services program.

    Science.gov (United States)

    Yarfitz, S; Ketchell, D S

    2000-01-01

    Support for molecular biology researchers has been limited to traditional library resources and services in most academic health sciences libraries. The University of Washington Health Sciences Libraries have been providing specialized services to this user community since 1995. The library recruited a Ph.D. biologist to assess the molecular biological information needs of researchers and design strategies to enhance library resources and services. A survey of laboratory research groups identified areas of greatest need and led to the development of a three-pronged program: consultation, education, and resource development. Outcomes of this program include bioinformatics consultation services, library-based and graduate level courses, networking of sequence analysis tools, and a biological research Web site. Bioinformatics clients are drawn from diverse departments and include clinical researchers in need of tools that are not readily available outside of basic sciences laboratories. Evaluation and usage statistics indicate that researchers, regardless of departmental affiliation or position, require support to access molecular biology and genetics resources. Centralizing such services in the library is a natural synergy of interests and enhances the provision of traditional library resources. Successful implementation of a library-based bioinformatics program requires both subject-specific and library and information technology expertise.

  15. A library-based bioinformatics services program*

    Science.gov (United States)

    Yarfitz, Stuart; Ketchell, Debra S.

    2000-01-01

    Support for molecular biology researchers has been limited to traditional library resources and services in most academic health sciences libraries. The University of Washington Health Sciences Libraries have been providing specialized services to this user community since 1995. The library recruited a Ph.D. biologist to assess the molecular biological information needs of researchers and design strategies to enhance library resources and services. A survey of laboratory research groups identified areas of greatest need and led to the development of a three-pronged program: consultation, education, and resource development. Outcomes of this program include bioinformatics consultation services, library-based and graduate level courses, networking of sequence analysis tools, and a biological research Web site. Bioinformatics clients are drawn from diverse departments and include clinical researchers in need of tools that are not readily available outside of basic sciences laboratories. Evaluation and usage statistics indicate that researchers, regardless of departmental affiliation or position, require support to access molecular biology and genetics resources. Centralizing such services in the library is a natural synergy of interests and enhances the provision of traditional library resources. Successful implementation of a library-based bioinformatics program requires both subject-specific and library and information technology expertise. PMID:10658962

  16. LOCKS AND KEYS SERVICE

    CERN Multimedia

    Locks and Keys Service

    2002-01-01

    The Locks and Keys service (ST/FM) will move from building 55 to building 570 from the 2nd August to the 9th August 2002 included. During this period the service will be closed. Only in case of extreme urgency please call the 164550. Starting from Monday, 12th August, the Locks and Keys Service will continue to follow the activities related to office keys (keys and locks) and will provide the keys for furniture. The service is open from 8h30 to 12h00 and from 13h00 to 17h30. We remind you that your divisional correspondents can help you in the execution of the procedures. We thank you for your comprehension and we remain at your service to help you in solving all the matters related to keys for offices and furniture. Locks and Keys Service - ST Division - FM Group

  17. Building Service Provider Capabilities

    DEFF Research Database (Denmark)

    Brandl, Kristin; Jaura, Manya; Ørberg Jensen, Peter D.

    In this paper we study whether and how the interaction between clients and the service providers contributes to the development of capabilities in service provider firms. In situations where such a contribution occurs, we analyze how different types of activities in the production process...... of the services, such as sequential or reciprocal task activities, influence the development of different types of capabilities. We study five cases of offshore-outsourced knowledge-intensive business services that are distinguished according to their reciprocal or sequential task activities in their production...... process. We find that clients influence the development of human capital capabilities and management capabilities in reciprocally produced services. While in sequential produced services clients influence the development of organizational capital capabilities and management capital capabilities....

  18. Service level agreements.

    Science.gov (United States)

    Grimwood, A

    1998-02-01

    Service level agreements provide clearer descriptions of the services to be provided and the objectives to be met. In many instances it is the first time that services have been defined allowing their performance to be suitably measured. They should be output based and not too prescriptive on how the services are to be delivered. The emphasis should be on establishing outputs and the arrangements for monitoring achievement. Customer expectations can exceed available resources and arbitration may become necessary if agreement cannot be reached on internal service level agreements. The main requirements of customers for change through service level agreements is usually improved communications on job status that includes notification of any delays and that agreed response times will be met.

  19. Genetic analysis of environmental variation

    NARCIS (Netherlands)

    Hill, W.G.; Mulder, H.A.

    2010-01-01

    Environmental variation (VE) in a quantitative trait – variation in phenotype that cannot be explained by genetic variation or identifiable genetic differences – can be regarded as being under some degree of genetic control. Such variation may be either between repeated expressions of the same trait

  20. Stem cells and genetic diseases

    Directory of Open Access Journals (Sweden)

    Irshad S.

    2012-09-01

    Full Text Available In this review, we have discussed a role of stem cells in the treatment of genetic diseases including cochlear and retinal regeneration. The most perceptive use of stem cells at the genetic diseases is cellular repair of tissues affected by a genetic mutation when stem cells without such mutation are transplanted to restore normal tissue function.