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Sample records for genetic octave yin-yang-algebra

  1. Matrix genetics, part 3: the evolution of the genetic code from the viewpoint of the genetic octave Yin-Yang-algebra

    CERN Document Server

    Petoukhov, Sergey V

    2008-01-01

    The set of known dialects of the genetic code (GC) is analyzed from the viewpoint of the genetic octave Yin-Yang-algebra. This algebra was described in the previous author's publications. The algebra was discovered on the basis of structural features of the GC in the matrix form of its presentation ("matrix genetics"). The octave Yin-Yang-algebra is considered as the pre-code or as the model of the GC. From the viewpoint of this algebraic model, for example, the sets of 20 amino acids and of 64 triplets consist of sub-sets of "male", "female" and "androgynous" molecules, etc. This algebra permits to reveal hidden peculiarities of the structure and evolution of the GC and to propose the conception of "sexual" relationships among genetic molecules. The first results of the analysis of the GC systems from such algebraic viewpoint say about the close connection between evolution of the GC and this algebra. They include 8 evolutionary rules of the dialects of the GC. The evolution of the GC is appeared as the stru...

  2. Matrix genetics, part 2: the degeneracy of the genetic code and the octave algebra with two quasi-real units (the genetic octave Yin-Yang-algebra)

    CERN Document Server

    Petoukhov, Sergey V

    2008-01-01

    Algebraic properties of the genetic code are analyzed. The investigations of the genetic code on the basis of matrix approaches ("matrix genetics") are described. The degeneracy of the vertebrate mitochondria genetic code is reflected in the black-and-white mosaic of the (8*8)-matrix of 64 triplets, 20 amino acids and stop-signals. This mosaic genetic matrix is connected with the matrix form of presentation of the special 8-dimensional Yin-Yang-algebra and of its particular 4-dimensional case. The special algorithm, which is based on features of genetic molecules, exists to transform the mosaic genomatrix into the matrices of these algebras. Two new numeric systems are defined by these 8-dimensional and 4-dimensional algebras: genetic Yin-Yang-octaves and genetic tetrions. Their comparison with quaternions by Hamilton is presented. Elements of new "genovector calculation" and ideas of "genetic mechanics" are discussed. These algebras are considered as models of the genetic code and as its possible pre-code ba...

  3. Essential Matlab and Octave

    CERN Document Server

    Rogel-Salazar, Jesus

    2014-01-01

    ""This is an excellent book for anyone approaching MATLAB or Octave for the first time. The pleasant language used throughout creates the sensation of having the author by your side. … An interesting feature are the examples used to explain the use of functions and operations. … compared to similar texts on Octave and MATLAB, the author introduces at an early stage how to produce line and surface plots with MATLAB and Octave. It is very attractive to students to be able to quickly produce plots with scientific journal quality. … The margin notes are great as they can also work as virtual bookm

  4. GNU Octave Manual Version 3

    DEFF Research Database (Denmark)

    W. Eaton, John; Bateman, David; Hauberg, Søren

    This manual is the definitive guide to GNU Octave, an interactive environment for numerical computation. The manual covers the new version 3 of GNU Octave.......This manual is the definitive guide to GNU Octave, an interactive environment for numerical computation. The manual covers the new version 3 of GNU Octave....

  5. Octave Regout : Sport on popp, vanad inimesed mitte / Octave Regout ; interv. Mikk Salu

    Index Scriptorium Estoniae

    Regout, Octave, 1935-

    2007-01-01

    Hollandi Maagdenhuisi fondi esimees, kes on Eestisse aidanud tuua ligi 70 miljonit krooni, räägib populaarsetest ja ebapopulaarsetest heategevusvaldkondadest ning heategevuse eripäradest Hollandis ja Eestis. Octave Regout pälvis president Toomas Hendrik Ilveselt riikliku teenetemärgi. Vt. samas: Eestisse 70 miljonit krooni; Hansapanga suunamuutus; Hansapanga toetustegevus 2005-2007

  6. A Call-Graph Profiler for GNU Octave

    CERN Document Server

    Annamalai, Muthiah

    2008-01-01

    We report the design and implementation of a call-graph profiler for GNU Octave, a numerical computing platform. GNU Octave simplifies matrix computation for use in modeling or simulation. Our work provides a call-graph profiler, which is an improvement on the flat profiler. We elaborate design constraints of building a profiler for numerical computation, and benchmark the profiler by comparing it to the rudimentary timer start-stop (tic-toc) measurements, for a similar set of programs. The profiler code provides clean interfaces to internals of GNU Octave, for other (newer) profiling tools on GNU Octave.

  7. Scientific computing with MATLAB and Octave

    CERN Document Server

    Quarteroni, Alfio; Gervasio, Paola

    2014-01-01

    This textbook is an introduction to Scientific Computing, in which several numerical methods for the computer-based solution of certain classes of mathematical problems are illustrated. The authors show how to compute the zeros, the extrema, and the integrals of continuous functions, solve linear systems, approximate functions using polynomials and construct accurate approximations for the solution of ordinary and partial differential equations. To make the format concrete and appealing, the programming environments Matlab and Octave are adopted as faithful companions. The book contains the solutions to several problems posed in exercises and examples, often originating from important applications. At the end of each chapter, a specific section is devoted to subjects which were not addressed in the book and contains bibliographical references for a more comprehensive treatment of the material. From the review: ".... This carefully written textbook, the third English edition, contains substantial new developme...

  8. Implementation Octave-S and Iso 27001controls in Risk Management Information Systems

    Directory of Open Access Journals (Sweden)

    Stephanus Stephanus

    2014-12-01

    Full Text Available Extensive use of information technology in companies put IT into a position which is of considerable concern, especially in large companies that put IT becomes a strategic part of the company. The importance of IT division, make the companies willing to pay big to get the benefits offered by IT itself, but on the other hand appears disappointment incurred from investments are not comparable with the results obtained. Until the threat appear and disrupt the business of the company. By doing risk management using the OCTAVE-S, particularly in smaller companies, can help companies to be growing, the company can find out the weaknesses and threats that may arise that could disrupt the company's business, helped by the standard controls that are owned by the ISO / EIC 27001 : 2005 helps companies to prepare implement ISO / EIC 27001:2005 later.

  9. GPU Linear algebra extensions for GNU/Octave

    Science.gov (United States)

    Bosi, L. B.; Mariotti, M.; Santocchia, A.

    2012-06-01

    Octave is one of the most widely used open source tools for numerical analysis and liner algebra. Our project aims to improve Octave by introducing support for GPU computing in order to speed up some linear algebra operations. The core of our work is a C library that executes some BLAS operations concerning vector- vector, vector matrix and matrix-matrix functions on the GPU. OpenCL functions are used to program GPU kernels, which are bound within the GNU/octave framework. We report the project implementation design and some preliminary results about performance.

  10. A computer-controlled instrumentation system for third octave analysis

    Science.gov (United States)

    Faulcon, N. D.; Monteith, J. H.

    1978-01-01

    An instrumentation system is described which employs a minicomputer, a one-third octave band analyzer, and a time code/tape search unit for the automatic control and analysis of third-octave data. With this system the information necessary for data adjustment is formatted in such a way as to eliminate much operator interface, thereby substantially reducing the probability for error. A description of a program for the calculation of effective perceived noise level from aircraft noise data is included as an example of how this system can be used.

  11. VizieR Online Data Catalog: Transiting planets search Matlab/Octave source code (Ofir+, 2014)

    Science.gov (United States)

    Ofir, A.

    2014-01-01

    The Matlab/Octave source code for Optimal BLS is made available here. Detailed descriptions of all inputs and outputs are given by comment lines in the file. Note: Octave does not currently support parallel for loops ("parfor"). Octave users therefore need to change the "parfor" command (line 217 of OptimalBLS.m) to "for". (7 data files).

  12. Calcolo scientifico esercizi e problemi risolti con Matlab e Octave

    CERN Document Server

    Quarteroni, Alfio; Gervasio, Paola

    2017-01-01

    Questo testo è concepito per i corsi delle Facoltà di Ingegneria e di Scienze. Esso affronta tutti gli argomenti tipici della Matematica Numerica, spaziando dal problema di risolvere sistemi di equazioni lineari e non lineari a quello di approssimare una funzione, di calcolare i suoi minimi, le sue derivate ed il suo integrale definito fino alla risoluzione di equazioni differenziali ordinarie e alle derivate parziali con metodi alle differenze finite ed agli elementi finiti. Un capitolo iniziale conduce lo studente ad un rapido ripasso degli argomenti dell'Analisi Matematica e dell'Algebra Lineare di uso frequente nel volume e ad una introduzione ai linguaggi MATLAB e Octave. Al fine di rendere maggiormente incisiva la presentazione e fornire un riscontro quantitativo immediato alla teoria vengono implementati in linguaggio MATLAB e Octave tutti gli algoritmi che via via si introducono. Vengono inoltre proposti numerosi esercizi, tutti risolti per esteso, ed esempi, anche con riferimento ad applicazioni in...

  13. Octave-spanning supercontinuum generation via microwave frequency multiplication

    Science.gov (United States)

    Cole, D. C.; Beha, K. M.; Diddams, S. A.; Papp, S. B.

    2016-06-01

    We demonstrate a system based on telecom components for the generation of a coherent octave-spanning supercontinuum from a continuous-wave laser. The system utilizes direct multiplication of a 10 GHz signal derived from a commercial synthesizer to carve pulses from the laser, which are then iteratively chirped and compressed in two stages. After reducing the repetition rate of the resulting pulse train to 2.5 GHz using selective transmission through an electro-optic gate, propagation through highly-nonlinear fiber generates an octave-spanning supercontinuum spectrum. We discuss the impact of the noise of the modulation frequency on the coherence of the supercontinuum and discuss its mitigation. Close agreement between experiment and theory is shown throughout, and we use our ability to precisely model the experiment to propose an extension of the system to 20 GHz repetition rate.

  14. Entorno integrado para el trabajo con GNU/Octave

    Directory of Open Access Journals (Sweden)

    Sandy Días Ramos

    2012-12-01

    Full Text Available El presente trabajo propone una alternativa viable para la sustitución del asistente matemático de licencia privativa Matlab por el Octave, el cual es un homólogo distribuido bajo licencia GPL. En el primero de los casos,  se destaca el número de prestaciones tan elevado que posee y el nivel de integración, extensibilidad y facilidad de uso que incorpora, lo que aporta a que sea el asistente numérico más utilizado mundialmente. Por su parte, el Octave es un asistente matemático previsto de similares funcionalidades que Matlab y con completa compatibilidad; sin embargo, dada la poca interactividad que posee y la carencia de una interfaz gráfica, muchas veces es renegado a la última de las opciones por estudiantes y profesionales. En este contexto, el trabajo muestra las capacidades de un nuevo entorno de trabajo que,  tomando como base a Octave, extiende sus posibilidades mediante la interacción con otros asistentes matemáticos. Adicionalmente, se presenta y destaca su importante número de similitudes con el software Matlab.

  15. Semi-automatic, octave-spanning optical frequency counter.

    Science.gov (United States)

    Liu, Tze-An; Shu, Ren-Huei; Peng, Jin-Long

    2008-07-07

    This work presents and demonstrates a semi-automatic optical frequency counter with octave-spanning counting capability using two fiber laser combs operated at different repetition rates. Monochromators are utilized to provide an approximate frequency of the laser under measurement to determine the mode number difference between the two laser combs. The exact mode number of the beating comb line is obtained from the mode number difference and the measured beat frequencies. The entire measurement process, except the frequency stabilization of the laser combs and the optimization of the beat signal-to-noise ratio, is controlled by a computer running a semi-automatic optical frequency counter.

  16. Multi-octave spectrally tunable strong-field Terahertz laser

    CERN Document Server

    Vicario, Carlo; Chefonov, Oleg V; Hauri, Christoph P

    2016-01-01

    The ideal laser source for the emerging research field of nonlinear Terahertz (THz) spectroscopy should offer radiation with a large versatility and deliver both ultra-intense multi-octave spanning single-cycle pulses and user-selectable multi-cycle pulses at narrow linewidth. The absence of such a table-top source has hampered advances in numerous THz disciplines including imaging, nonlinear photonics and spectroscopy, selective out-of-equilibrium excitation of condensed matter and quantum systems. Here we introduce a highly versatile table-top THz laser platform providing single-cycle GV/m transients as well as spectrally narrow pulses tunable in bandwidth and central frequency across 5 octaves with hundreds of MV/m field strength. The compact scheme is based on optical rectification of a temporally modulated laser beam in organic crystals. It allows for the selection of THz oscillation cycles from 1 to >50 and central frequency tuning range from 0.5 to 7 THz by directly changing the modulation period of th...

  17. Effects of Stimulus Octave and Timbre on the Tuning Accuracy of Secondary School Instrumentalists

    Science.gov (United States)

    Byo, James L.; Schlegel, Amanda L.; Clark, N. Alan

    2011-01-01

    To test the effects of octave and timbre on tuning accuracy, four stimuli--B-flat 4 sounded by flute, oboe, and clarinet and B-flat 2 sounded by tuba--functioned as reference pitches for high school wind players (N = 72). The two stimulus octaves combined with participants' assigned tuning notes created soprano, tenor, and bass tuning groups. All…

  18. Effects of Stimulus Octave and Timbre on the Tuning Accuracy of Advanced College Instrumentalists

    Science.gov (United States)

    Byo, James L.; Schlegel, Amanda L.

    2016-01-01

    The purpose of this study was to test the effects of octave and timbre on advanced college musicians' (N = 63) ability to tune their instruments. We asked: "Are there differences in tuning accuracy due to octave (B-flat 2, B-flat 4) and stimulus timbre (oboe, clarinet, electronic tuner, tuba)?" and "To what extent do participants'…

  19. Desarrollo de generadores de números pseudoaleaorios en Octave

    Directory of Open Access Journals (Sweden)

    Pérez, Cecilia

    2011-01-01

    Full Text Available Modelos y Simulación es una asignatura optativa de la Carrera de Licenciatura en Sistemas de Información, de la Facultad de Ciencias Exactas y Naturales y Agrimensura de la Universidad Nacional del Nordeste, en Corrientes, Argentina. Este trabajo describe el diseño y construcción de un entorno virtual de enseñanza-aprendizaje aplicable en el ámbito de la asignatura, para afianzar el aprendizaje de los métodos de generación de números pseudoaleatorios y las pruebas estadísticas para la verificación de los mismos, empleando Octave en el desarrollo. El software educativo permite al alumno realizar prácticas interactivas y experimentar evaluaciones comparativas orientadas a seleccionar el generador más óptimo, constituyendo un recurso didáctico a ser incorporado como herramienta complementaria en el dictado de la asignatura.

  20. Octave Bandwidth Orthomode Transducers for the Expanded Very Large Array

    Science.gov (United States)

    Coutts, Gordon M.

    2011-06-01

    Quadruple-ridge orthomode transducers (OMTs) have been designed to operate over a full octave bandwidth for the expanded very large array (EVLA) project. The OMT separates linearly polarized signal components by matching a circular waveguide input to two orthogonal coaxial outputs. The OMT is used in conjunction with a quadrature hybrid to detect circularly polarized signal components. This paper focuses on the 1 GHz-2 GHz L-Band OMT design, which has better than 18.8 dB measured return loss across the band, with no evidence of trapped-mode resonances. The OMT is designed with an emphasis on performance, ease of tuning and manufacturability since a large number of units are needed for the array application. Extensive parametric analyses were carried out, and nominal dimensions have been set to ensure the devices exceed RF specifications provided the parts are machined to within specified tolerances. With excellent wideband performance and a simplified manufacturing process, the proposed OMT would be amenable to much larger future array projects.

  1. Multi-octave spectral beam combiner on ultra-broadband photonic integrated circuit platform.

    Science.gov (United States)

    Stanton, Eric J; Heck, Martijn J R; Bovington, Jock; Spott, Alexander; Bowers, John E

    2015-05-01

    We present the design of a novel platform that is able to combine optical frequency bands spanning 4.2 octaves from ultraviolet to mid-wave infrared into a single, low M2 output waveguide. We present the design and realization of a key component in this platform that combines the wavelength bands of 350 nm - 1500 nm and 1500 nm - 6500 nm with demonstrated efficiency greater than 90% in near-infrared and mid-wave infrared. The multi-octave spectral beam combiner concept is realized using an integrated platform with silicon nitride waveguides and silicon waveguides. Simulated bandwidth is shown to be over four octaves, and measured bandwidth is shown over two octaves, limited by the availability of sources.

  2. Generation and Photonic Guidance of Multi-Octave Optical-Frequency Combs

    DEFF Research Database (Denmark)

    Couny, F.; Benabid, F.; Roberts, John;

    2007-01-01

    crystal fiber. The waveguidance results not from a photonic band gap but from the inhibited coupling between the core and cladding modes. The spectrum consists of up to 45 high-order Stokes and anti-Stokes lines and is generated by driving the confined gas with a single, moderately powerful (10-kilowatt......Ultrabroad coherent comb-like optical spectra spanning several octaves are a chief ingredient in the emerging field of attoscience. We demonstrate generation and guidance of a three-octave spectral comb, spanning wavelengths from 325 to 2300 nanometers, in a hydrogen-filled hollow-core photonic...

  3. Octave-Spanning Mid-IR Supercontinuum Generation with Ultrafast Cascaded Nonlinearities

    DEFF Research Database (Denmark)

    Zhou, Binbin; Guo, Hairun; Liu, Xing;

    2014-01-01

    An octave-spanning mid-IR supercontinuum is observed experimentally using ultrafast cascaded nonlinearities in an LiInS2 quadratic nonlinear crystal pumped with 70 fs energetic mid-IR pulses and cut for strongly phase-mismatched second-harmonic generation.......An octave-spanning mid-IR supercontinuum is observed experimentally using ultrafast cascaded nonlinearities in an LiInS2 quadratic nonlinear crystal pumped with 70 fs energetic mid-IR pulses and cut for strongly phase-mismatched second-harmonic generation....

  4. Observation of an octave-spanning supercontinuum in the mid-infrared using ultrafast cascaded nonlinearities

    DEFF Research Database (Denmark)

    Bache, Morten; Liu, Xing; Zhou, Binbin

    2014-01-01

    An octave-spanning mid-IR supercontinuum is observed experimentally using ultrafast cascaded nonlinearities in an LiInS2 quadratic nonlinear crystal pumped with 70 fs energetic mid-IR pulses and cut for strongly phase-mismatched second-harmonic generation. ©OSA 2014.......An octave-spanning mid-IR supercontinuum is observed experimentally using ultrafast cascaded nonlinearities in an LiInS2 quadratic nonlinear crystal pumped with 70 fs energetic mid-IR pulses and cut for strongly phase-mismatched second-harmonic generation. ©OSA 2014....

  5. An Octave Bandwidth, High PAE, Linear, Class J GaN High Power Amplifier

    Science.gov (United States)

    2012-03-12

    versus the modeled small-signal gain and return loss response of the Class J amplifier using a 45-W CREE GaN HEMT . The amplifier has a gain of 13 to...AFFTC-PA-12055 An Octave Bandwidth, High PAE, Linear, Class J GaN High Power Amplifier Kris Skowronski, Steve Nelson, Rajesh Mongia, Howard...Technical Paper 3. DATES COVERED (From - To) 11/11 – 03/12 (etc.) 4. TITLE AND SUBTITLE An Octave Bandwidth, High PAE, Linear, Class J GaN High

  6. Multi-octave supercontinuum generation with IR radiation filamentation in transparent solid-state media

    Science.gov (United States)

    Frolov, S. A.; Trunov, V. I.; Leshchenko, V. E.; Pestryakov, E. V.

    2016-05-01

    Supercontinuum generation from the near to far IR during radiation filamentation in solid-state media in an anomalous dispersion region is theoretically investigated. The initial search for appropriate media with the use of an interference model showed that the widest IR spectrum is generated in media with high values of zero group velocity dispersion wavelength with the pump wavelength located not far from it. Halides belong to one of such media groups. The possibility of generation of a very wide supercontinuum in calcium fluoride (0.52-3.35 μm, which corresponds to 2.7 octaves), sodium chloride (0.7-7.6 μm, 3.5 octaves), and potassium iodide (0.66-22 μm, 5.1 octaves) is demonstrated by numerical simulation. Also, pulse self-compression down to 13 fs at the 5-μm central wavelength (about single period) has been observed in potassium iodide. The mechanisms of multi-octave supercontinuum generation are discussed.

  7. All-optical octave-broad ultrafast switching of Si woodpile photonic band gap crystals

    NARCIS (Netherlands)

    Euser, T.G.; Molenaar, Adriaan J.; Fleming, J.G.; Gralak, Boris; Polman, Albert; Vos, Willem L.

    2008-01-01

    We present ultrafast all-optical switching measurements of Si woodpile photonic band gap crystals. The crystals are spatially homogeneously excited and probed by measuring reflectivity over an octave in frequency (including the telecommunication range) as a function of time. After 300 fs, the

  8. Octave-spanning supercontinuum generation in a silicon-rich nitride waveguide

    DEFF Research Database (Denmark)

    Liu, Xing; Pu, Minhao; Zhou, Binbin;

    2016-01-01

    We experimentally show octave-spanning supercontinuum generation in a nonstoichiometric silicon-rich nitride waveguide when pumped by femtosecond pulses from an erbium fiber laser. The pulse energy and bandwidth are comparable to results achieved in stoichiometric silicon nitride waveguides...... the pump in the telecom band....

  9. Simulation of ODE/PDE models with MATLAB, OCTAVE and SCILAB scientific and engineering applications

    CERN Document Server

    Vande Wouwer, Alain; Vilas, Carlos

    2014-01-01

    Simulation of ODE/PDE Models with MATLAB®, OCTAVE and SCILAB shows the reader how to exploit a fuller array of numerical methods for the analysis of complex scientific and engineering systems than is conventionally employed. The book is dedicated to numerical simulation of distributed parameter systems described by mixed systems of algebraic equations, ordinary differential equations (ODEs) and partial differential equations (PDEs). Special attention is paid to the numerical method of lines (MOL), a popular approach to the solution of time-dependent PDEs, which proceeds in two basic steps: spatial discretization and time integration. Besides conventional finite-difference and -element techniques, more advanced spatial-approximation methods are examined in some detail, including nonoscillatory schemes and adaptive-grid approaches. A MOL toolbox has been developed within MATLAB®/OCTAVE/SCILAB. In addition to a set of spatial approximations and time integrators, this toolbox includes a collection of applicatio...

  10. Intelligibilities of 1-octave rectangular bands spanning the speech spectrum when heard separately and paired

    Science.gov (United States)

    Warren, Richard M.; Bashford, James A.; Lenz, Peter W.

    2005-11-01

    There is a need, both for speech theory and for many practical applications, to know the intelligibilities of individual passbands that span the speech spectrum when they are heard singly and in combination. While indirect procedures have been employed for estimating passband intelligibilities (e.g., the Speech Intelligibility Index), direct measurements have been blocked by the confounding contributions from transition band slopes that accompany filtering. A recent study has reported that slopes of several thousand dBA/octave produced by high-order finite impulse response filtering were required to produce the effectively rectangular bands necessary to eliminate appreciable contributions from transition bands [Warren et al., J. Acoust. Soc. Am. 115, 1292-1295 (2004)]. Using such essentially vertical slopes, the present study employed sentences, and reports the intelligibilities of their six 1-octave contiguous passbands having center frequencies from 0.25 to 8 kHz when heard alone, and for each of their 15 possible pairings.

  11. Two-octave mid-infrared supercontinuum generation in As-Se suspended core fibers

    DEFF Research Database (Denmark)

    Møller, Uffe Visbech; Petersen, Christian Rosenberg; Kubat, Irnis

    2015-01-01

    A more than two-octave mid-infrared supercontinuum with an average output power of 15.6 mW covering 1.7-7.5 μm (1,333-5,900 cm-1) is generated in a low-loss As38Se62 suspended core fiber with core diameter of 4.5 μm.......A more than two-octave mid-infrared supercontinuum with an average output power of 15.6 mW covering 1.7-7.5 μm (1,333-5,900 cm-1) is generated in a low-loss As38Se62 suspended core fiber with core diameter of 4.5 μm....

  12. SRS generation spanning over two octaves in a graded-index multimode optical fiber

    CERN Document Server

    Pourbeyram, Hamed; Mafi, Arash

    2013-01-01

    We report on the generation of new wavelengths, mediated by the stimulated Raman scattering process and extending over two octaves covering 523 to 1750 nm wavelength range, in a standard telecommunication graded-index multimode optical fiber. Despite the highly multimode nature of the pump, the Raman peaks are generated in specific modes of the fiber, confirming substantial beam cleanup during the stimulated Raman scattering process.

  13. Multiwatt octave-spanning supercontinuum generation in multicore photonic-crystal fiber.

    Science.gov (United States)

    Fang, Xiao-hui; Hu, Ming-lie; Huang, Li-li; Chai, Lu; Dai, Neng-li; Li, Jin-yan; Tashchilina, A Yu; Zheltikov, Aleksei M; Wang, Ching-yue

    2012-06-15

    High-power supercontinuum spanning over more than an octave was generated using a high power femtosecond fiber laser amplifier and a multicore nonlinear photonic crystal fiber (PCF). Long multicore PCFs (as long as 20 m in our experiments) are shown to enable supercontinuum generation in an isolated fundamental supermode, with the manifold of other PCF modes suppressed due to the strong evanescent fields coupling between the cores, providing a robust 5.4 W coherent supercontinuum output with a high spatial and spectral quality within the range of wavelengths from 500 to 1700 nm.

  14. Mode-locked picosecond pulse generation from an octave-spanning supercontinuum

    CERN Document Server

    Kielpinski, D; Canning, J; Stevenson, M; Westbrook, P S; Feder, K S

    2011-01-01

    We generate mode-locked picosecond pulses near 1110 nm by spectrally slicing and reamplifying an octave-spanning supercontinuum source pumped at 1550 nm. The 1110 nm pulses are near transform-limited, with 1.7 ps duration over their 1.2 nm bandwidth, and exhibit high interpulse coherence. Both the supercontinuum source and the pulse synthesis system are implemented completely in fiber. The versatile source construction suggests that pulse synthesis from sliced supercontinuum may be a useful technique across the 1000 - 2000 nm wavelength range.

  15. Function call overhead benchmarks with MATLAB, Octave, Python, Cython and C

    CERN Document Server

    Gaul, André

    2012-01-01

    We consider the overhead of function calls in the programming languages MATLAB/Octave, Python, Cython and C. In many applications a function has to be called very often inside a loop. One such application in numerical analysis is the finite element method where integrals have to be computed on each element in a loop. The called functions can often be evaluated efficiently but the function call itself may be time-consuming. We present a benchmark whose goal is to identify and quantify optimization potentials with respect to time consumption caused by function calls in the mentioned programming languages.

  16. High-Energy, Multi-Octave-Spanning Mid-IR Sources via Adiabatic Difference Frequency Generation

    Science.gov (United States)

    2016-10-17

    and arbitrarily shaped mid-IR pulses. Additionally, we have shown that the ADFG mid-IR pulses can be used conveniently as the seed source for an...that the ADFG approach, including a conventional sub-octave near-IR pulse shaper (such as an acousto-optic programmable dispersive filter (AOPDF) or...capturing the dispersion of the ADFG device. We have evaluated and modeled the extension of the ADFG approach to the long-wave IR through the use of

  17. Octave-spanning supercontinuum generation in a silicon-rich nitride waveguide

    CERN Document Server

    Liu, Xing; Zhou, Binbin; Krückel, Clemens J; Fülöp, Attila; Torres-Company, Victor; Bache, Morten

    2016-01-01

    We experimentally show octave-spanning supercontinuum generation in a non-stoichiometric silicon-rich nitride waveguide when pumped by femtosecond pulses from an erbium fiber laser. The pulse energy and bandwidth are comparable to results achieved in stoichiometric silicon nitride waveguides, but our material platform is simpler to manufacture. We also observe wave-breaking supercontinuum generation by using orthogonal pumping in the same waveguide. Additional analysis reveals that the waveguide height is a powerful tuning parameter for generating mid-infrared dispersive waves while keeping the pump in the telecom band.

  18. Stably accessing octave-spanning microresonator frequency combs in the soliton regime

    CERN Document Server

    Li, Qing; Westly, Daron A; Drake, Tara E; Stone, Jordan R; Ilic, B Robert; Diddams, Scott A; Papp, Scott B; Srinivasan, Kartik

    2016-01-01

    Microresonator frequency combs can be an enabling technology for optical frequency synthesis and timekeeping in low size, weight, and power architectures. Such systems require comb operation in low-noise, phase-coherent states such as solitons, with broad spectral bandwidths (e.g., octave-spanning) for self-referencing to detect the carrier-envelope offset frequency. However, stably accessing such states is complicated by thermo-optic dispersion. For example, in the Si3N4 platform, precisely dispersion-engineered structures can support broadband operation, but microsecond thermal time constants have necessitated fast pump power or frequency control to stabilize the solitons. In contrast, here we consider how broadband soliton states can be accessed with simple pump laser frequency tuning, at a rate much slower than the thermal dynamics. We demonstrate octave-spanning soliton frequency combs in Si3N4 microresonators, including the generation of a multi-soliton state with a pump power near 40 mW and a single-so...

  19. Teaching Near-Surface Geophysics within the Matlab/Octave Community

    Science.gov (United States)

    Plattner, A.

    2016-12-01

    Being able to simulate near-surface geophysical data using simple programs can help students grasp the relationship between instrument response and subsurface structure. Computer programs to perform such tasks are sometimes provided with textbooks, but they rarely are open source. This limits the adaptability to the instructor's needs and students cannot look inside the programs to see how the data are simulated and/or processed. The simplicity and efficiency with which MATLAB and Octave allow turning physics and mathematics into computer programs simplifies writing, reading, and editing basic educational near-surface geophysical programs and makes them accessible to students. Here we highlight two Octave/MATLAB-based software packages that are openly available through the GitHub organization NSGeophysics https://github.com/NSGeophysics. The first software package, GPR-O (https://github.com/NSGeophysics/GPR-O), allows for basic ground penetrating radar data analysis and representation. The second software package, Seism-O (https://github.com/NSGeophysics/Seism-O), can be used to simulate various data sets for simple near-surface seismic refraction/reflection investigations. We invite the community to download from, use, change, and contribute to the NSGeophysics repository in the hope that it will serve as a platform for exchanging and developing teaching software for near-surface geophysics.

  20. Multiple-octave spanning mid-IR supercontinuum generation in bulk quadratic nonlinear crystals

    CERN Document Server

    Zhou, Binbin

    2016-01-01

    Bright and broadband coherent mid-IR radiation is important for exciting and probing molecular vibrations. Using cascaded nonlinearities in conventional quadratic nonlinear crystal like lithium niobate, self-defocusing near-IR solitons have been demonstrated that led to very broadband supercontinuum generation in the visible, near-IR and short-wavelength mid-IR. Here we conduct an experiment where a mid-IR crystal pumped in the mid-IR gives multiple-octave spanning supercontinua. The crystal is cut for noncritical interaction, so the three-wave mixing of a single mid-IR femtosecond pump source leads to highly phase-mismatched second-harmonic generation. This self-acting cascaded process leads to the formation of a self-defocusing soliton at the mid-IR pump wavelength and after the self-compression point multiple octave-spanning supercontinua are observed (covering 1.6-$7.0~\\mu$m). The results were recorded in a commercially available crystal LiInS$_2$ pumped in the 3-$4~\\mu$m range, but other mid-IR crystals ...

  1. An Open-source Toolbox for Analysing and Processing PhysioNet Databases in MATLAB and Octave.

    Science.gov (United States)

    Silva, Ikaro; Moody, George B

    The WaveForm DataBase (WFDB) Toolbox for MATLAB/Octave enables integrated access to PhysioNet's software and databases. Using the WFDB Toolbox for MATLAB/Octave, users have access to over 50 physiological databases in PhysioNet. The toolbox provides access over 4 TB of biomedical signals including ECG, EEG, EMG, and PLETH. Additionally, most signals are accompanied by metadata such as medical annotations of clinical events: arrhythmias, sleep stages, seizures, hypotensive episodes, etc. Users of this toolbox should easily be able to reproduce, validate, and compare results published based on PhysioNet's software and databases.

  2. Pioneering the concepts of stereognosis and polyradiculoneuritis: Octave Landry (1826-1865).

    Science.gov (United States)

    Walusinski, Olivier

    2013-01-01

    Octave Landry was one of a long list of fine 19th century clinicians who died very young and whose discoveries in physiology and descriptions of new clinical pictures helped found current-day neurology. In 1852, Landry proposed a new take on the physiology of sensation which laid the ground for the concepts of proprioception and stereognosis. He also described the clinical picture of a rapidly progressing ascending paralysis, which in 1859 prefigured Guillain-Barré syndrome. In discussing his very active life, we will mention the hydrotherapies in fashion at the time and the pleasures of Parisian society. Landry's career was also marked by terrible cholera epidemics, one of which killed him at age 39, in the prime of his working life as a devoted physician.

  3. Three octave spanning supercontinuum by red-shifted dispersive wave in photonic crystal fibers

    CERN Document Server

    Sharma, Mohit

    2015-01-01

    This paper presents a three layer index guided lead silicate (SF57) photonic crystal fiber which simultaneously promises to yield large effective optical nonlinear coefficient and low anomalous dispersion that makes it suitable for supercontinuum generation. At an operating wavelength 1550 nm, the typical optimized value of anomalous dispersion and effective nonlinear coefficient turns out to be ~4 ps/km/nm and ~1078 W^(-1) km^(-1), respectively. Through numerical simulation it is realized that the designed fiber promises to exhibit three octave spanning supercontinuum from 900 to 7200 nm by using 50 fs sech optical pulses of 5 kW peak power. Due to the cross-phase modulation and four-wave mixing processes, a long range of red-shifted dispersive wave generated, which assist to achieve such large broadening. In addition, we have investigated the compatibility of supercontinuum generation with input pulse peak power increment and briefly discussed the impact of nonlinear processes on supercontinuum generation.

  4. Three octave spanning supercontinuum by red-shifted dispersive wave in photonic crystal fibers

    Science.gov (United States)

    Sharma, Mohit; Konar, S.

    2016-03-01

    This article presents a three-layer index guided lead silicate (SF57) photonic crystal fiber which simultaneously promises to yield large effective optical nonlinear coefficient and low anomalous dispersion that makes it suitable for supercontinuum (SC) generation. At an operating wavelength 1550 nm, the typical optimized value of anomalous dispersion and effective nonlinear coefficient turns out to be ~4 ps/km/nm and ~1078 W-1km-1, respectively. Through numerical simulation, it is realized that the designed fiber promises to exhibit three octave spanning SC from 900 to 7200 nm using 50 fs 'sech' optical pulses of 5 kW peak power. Due to the cross-phase modulation and four-wave mixing processes, a long range of red-shifted dispersive wave generated, which assists to achieve such large broadening. In addition, we have investigated the compatibility of SC generation with input pulse peak power increment and briefly discussed the impact of nonlinear processes on SC generation.

  5. Dual Polarized near Field Probe Based on OMJ in Waveguide Technology Achieving More Than Octave Bandwidth

    DEFF Research Database (Denmark)

    Foged, L. J.; Giacomini, A.; Morbidini, R.

    2014-01-01

    In classic probe-corrected spherical NF measurements, one of the main concerns is the probe [1], [2], [3]. Standard NF-FF transformation software applies probe correction with the assumption that the probe pattern behaves with μ=±1 azimuthal dependence. In reality, any physically realizable probe...... is just an approximation to this ideal case. Probe excitation errors, finite manufacturing tolerances and probe interaction with the mounting interface and absorbers are examples of uncertainties that can lead to presence of higher-order spherical modes in the probe pattern [4], [5]. Although probe...... correction techniques for high-order probes are feasible [6], they are highly demanding in terms of implementation complexity as well as in terms of calibration and post-processing time. In this paper, a new OMJ designed entirely in waveguide and capable of covering more than an octave bandwidth is presented...

  6. Design and implementation of a multi-octave-band audio camera for realtime diagnosis

    CERN Document Server

    Vanwynsberghe, Charles; Ollivier, François; Challande, Pascal; Moingeon, Hélène; Marchal, Jacques

    2016-01-01

    Noise pollution investigation takes advantage of two common methods of diagnosis: measurement using a Sound Level Meter and acoustical imaging. The former enables a detailed analysis of the surrounding noise spectrum whereas the latter is rather used for source localization. Both approaches complete each other, and merging them into a unique system, working in realtime, would offer new possibilities of dynamic diagnosis. This paper describes the design of a complete system for this purpose: imaging in realtime the acoustic field at different octave bands, with a convenient device. The acoustic field is sampled in time and space using an array of MEMS microphones. This recent technology enables a compact and fully digital design of the system. However, performing realtime imaging with resource-intensive algorithm on a large amount of measured data confronts with a technical challenge. This is overcome by executing the whole process on a Graphic Processing Unit, which has recently become an attractive device fo...

  7. Two-octave supercontinuum generation in a water-filled photonic crystal fiber.

    Science.gov (United States)

    Bethge, J; Husakou, A; Mitschke, F; Noack, F; Griebner, U; Steinmeyer, G; Herrmann, J

    2010-03-15

    Supercontinuum generation in a water-filled photonic crystal fiber is reported. By only filling the central hollow core of this fiber with water, the fiber properties are changed such that the air cladding provides broadband guiding. Using a pump wavelength of 1200 nm and few-microjoule pump pulses, the generation of supercontinua with two-octave spectral coverage from 410 to 1640 nm is experimentally demonstrated. Numerical simulations confirm these results, revealing a transition from a soliton-induced mechanism to self-phase modulation dominated spectral broadening with increasing pump power. Compared to supercontinua generated in glass core photonic fibers, the liquid core supercontinua show a higher degree of coherence, and the larger mode field area and the higher damage threshold of the water core enable significantly higher pulse energies of the white light pulses, ranging up to 0.39microJ.

  8. Moosh: A Numerical Swiss Army Knife for the Optics of Multilayers in Octave/Matlab

    Directory of Open Access Journals (Sweden)

    Josselin Defrance

    2016-04-01

    Full Text Available The aim of Moosh is to provide a complete set of tools to compute all the optical properties of any multilayered structure: reflection, transmission, absorption spectra, as well as gaussian beam propagation or guided modes. It can be seen as a semi-analytic (making it light and fast solver for Maxwell’s equations in multilayers. It is written in Octave/Matlab, available on Github and based on scattering matrices, making it perfectly stable. This software is meant to be extremely easy to (reuse, and could prove useful in many research areas like photovoltaics, plasmonics and nanophotonics, as well as for educational purposes for the large number of physical phenomena it can illustrate.

  9. Nearly octave-spanning frequency comb generation in AlN-on-sapphire microresonators

    CERN Document Server

    Liu, Xianwen; Xiong, Bing; Wang, Lai; Wang, Jian; Han, Yanjun; Hao, Zhibiao; Li, Hongtao; Luo, Yi; Yan, Jianchang; Wei, Tongbo; Zhang, Yun; Wang, Junxi

    2016-01-01

    We report a nearly octave-spanning optical frequency comb generation with a coverage of $\\sim$1000 nm in continuous-wave pumped aluminum nitride (AlN)-on-sapphire microring resonators. Thanks to optimized device design and fabrication process, high-quality-factor AlN microrings with high cavity finesse and low insertion loss are demonstrated. By tailoring the cavity dimension, a broadband anomalous dispersion is secured to facilitate the frequency comb generation. Blue-shifted dispersive wave emission as well as stimulated Raman scattering is observed, which helps extend the comb spectrum coverage. Our work suggests that AlN-on-sapphire can be an appealing platform for integrated nonlinear optics.

  10. Hearing Threshold and Equal Loudness Level Contours of 1/3-octave Noise Bands in a Diffuse Sound Field

    DEFF Research Database (Denmark)

    Nielsen, Maja Kirstine E.; Poulsen, Torben

    1994-01-01

    Hearing threshold levels and equal loudness level contours of 1/3-octave noise bands at 40 phons and 60 phon were measured for 27 normal hearing listeners in an approximately diffuse sound field. The threshold data in the frequency range 125 Hz to 1 kHz were 3-6 dB higher than the values given in...

  11. CoSMoMVPA: multi-modal multivariate pattern analysis of neuroimaging datain Matlab / GNU Octave

    Directory of Open Access Journals (Sweden)

    Nikolaas N Oosterhof

    2016-07-01

    Full Text Available Recent years have seen an increase in the popularity of multivariate pattern (MVP analysis of functional magnetic resonance (fMRI data, and, to a much lesser extent, magneto- and electro-encephalography (M/EEG data. We present CoSMoMVPA, a lightweight MVPA (MVP analysis toolbox implemented in the intersection of the Matlab and GNU Octave languages, that treats both fMRI and M/EEG data as first-class citizens.CoSMoMVPA supports all state-of-the-art MVP analysis techniques, including searchlight analyses, classification, correlations, representational similarity analysis, and the time generalization method. These can be used to address both data-driven and hypothesis-driven questions about neural organization and representations, both within and across: space, time, frequency bands, neuroimaging modalities, individuals, and species.It uses a uniform data representation of fMRI data in the volume or on the surface, and of M/EEG data at the sensor and source level. Through various external toolboxes, it directly supports reading and writing a variety of fMRI and M/EEG neuroimaging formats, and, where applicable, can convert between them. As a result, it can be integrated readily in existing pipelines and used with existing preprocessed datasets. CoSMoMVPA overloads the traditional volumetric searchlight concept to support neighborhoods for M/EEG and surface-based fMRI data, which supports localization of multivariate effects of interest across space, time, and frequency dimensions. CoSMoMVPA also provides a generalized approach to multiple comparison correction across these dimensions using Threshold-Free Cluster Enhancement with state-of-the-art clustering and permutation techniques.CoSMoMVPA is highly modular and uses abstractions to provide a uniform interface for a variety of MVP measures. Typical analyses require a few lines of code, making it accessible to beginner users. At the same time, expert programmers can easily extend its functionality

  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. Enhancement of computer program SPECTRAN to provide optional synthesis of 1/12 octave-band and critical-band spectra from 1/3 octave-band spectra

    Energy Technology Data Exchange (ETDEWEB)

    Chang, Young-Soo [Argonne National Lab., IL (United States); Liebich, R.E. [Raytheon Environmental Services Company, Cambridge, MA (United States)

    1997-07-01

    This paper describes greatly enhanced version of the computer program SPECTRAN, which was initially presented in Paper No. 96-RA104.01, at the A&WMA 89th Annual Meeting in June 1996. The program has had three basic upgrades since that time. The first is provision of an option to use either batch-mode input from previously prepared data files or a {open_quotes}user-friendly{close_quotes} interactive input routine. The latter is primarily for first-time users and those having only one, or very few, spectra to process. The second improvement is the synthesis of 1/12 octave-band spectra from 1/3 octave-band spectra, with {open_quotes}tone correction,{close_quotes} in a manner similar to that used in the original version of the program. The third fundamental improvement is addition of a unique new capability to synthesize classic {open_quotes}critical-band{close_quotes} spectra from 1/3 octave-band input spectra. Critical-band spectra are also termed {open_quotes}equivalent-rectangular-bandwidth (ERB){close_quotes} and {open_quotes}equal-contribution-to-speech (ECS){close_quotes} spectra.

  14. Octave-spanning spectrum of femtosecond Yb:fiber ring laser at 528 MHz repetition rate in microstructured tellurite fiber.

    Science.gov (United States)

    Wang, Guizhong; Jiang, Tongxiao; Li, Chen; Yang, Hongyu; Wang, Aimin; Zhang, Zhigang

    2013-02-25

    The octave-spanning spectrum was generated in a tellurite glass based microstructured fiber pumped by a 528 MHz repetition rate Yb:fiber ring laser without amplification. The laser achieved 40% output optical-to-optical efficiency with the output power of 410 mW. By adjusting the grating pair in the cavity, this oscillator can work at different cavity dispersion regimes with the shortest dechirped pulse width of 46 fs. The output pulses were then launched into a high-nonlinearity tellurite fiber, which has the zero-dispersion wavelength at ~1 μm. The high nonlinearity coefficient (1348 km⁻¹W⁻¹) and the matched zero-dispersion wavelength with pump laser enable the octave-spanning supercontinuum generated from 750 nm to 1700 nm with the coupled pulse energy above 10 pJ.

  15. The 3D scanner prototype utilize object profile imaging using line laser and octave software

    Science.gov (United States)

    Nurdini, Mugi; Manunggal, Trikarsa Tirtadwipa; Samsi, Agus

    2016-11-01

    Three-dimensional scanner or 3D Scanner is a device to reconstruct the real object into digital form on a computer. 3D Scanner is a technology that is being developed, especially in developed countries, where the current 3D Scanner devices is the advanced version with a very expensive prices. This study is basically a simple prototype of 3D Scanner with a very low investment costs. 3D Scanner prototype device consists of a webcam, a rotating desk system controlled by a stepper motor and Arduino UNO, and a line laser. Objects that limit the research is the object with same radius from its center point (object pivot). Scanning is performed by using object profile imaging by line laser which is then captured by the camera and processed by a computer (image processing) using Octave software. On each image acquisition, the scanned object on a rotating desk rotated by a certain degree, so for one full turn multiple images of a number of existing side are finally obtained. Then, the profile of the entire images is extracted in order to obtain digital object dimension. Digital dimension is calibrated by length standard, called gage block. Overall dimensions are then digitally reconstructed into a three-dimensional object. Validation of the scanned object reconstruction of the original object dimensions expressed as a percentage error. Based on the results of data validation, horizontal dimension error is about 5% to 23% and vertical dimension error is about +/- 3%.

  16. The octave potencies convention: a mathematical model of dilution and succussion.

    Science.gov (United States)

    Anick, David J

    2007-07-01

    Several hypothesized explanations for homeopathy posit that remedies contain a concentration of discrete information-carrying units, such as water clusters, nano-bubbles, or silicates. For any such explanation to be sustainable, dilution must reduce and succussion must restore the concentration of these units. Succussion can be modeled by a logistic equation, which leads to mathematical relationships involving the maximum concentration, the average growth of information-carrying units rate per succussion stroke, the number of succussion strokes, and the dilution factor (x, c, or LM). When multiple species of information-carrying units are present, the fastest-growing species will eventually come to dominate, as the potency is increased. An analogy is explored between iterated cycles dilution and succussion, in making homeopathic remedies, and iterated cycles of reseeding and growth, in bacterial cultures. Drawing on this analogy, the active ingredients in low and medium potency remedies may be present at early dilutions but only gradually come to 'dominate', while high potencies may develop from the occurrence of low-probability but faster-growing 'mutations.' Conclusions from this model include: 'x' and 'c' potencies are best compared by the amount of dilution, not the amount of succussion; the minimum number of succussion strokes needed per cycle is proportional to the logarithm of the dilution factor; and a plausible interpretation of why potencies at approximately regular ratios are traditionally used (the octave potencies convention).

  17. Two Octaves Supercontinuum Generation in Lead-Bismuth Glass Based Photonic Crystal Fiber

    Directory of Open Access Journals (Sweden)

    Ryszard Buczynski

    2014-06-01

    Full Text Available In this paper we report a two octave spanning supercontinuum generation in a bandwidth of 700–3000 nm in a single-mode photonic crystal fiber made of lead-bismuth-gallate glass. To our knowledge this is the broadest supercontinuum reported in heavy metal oxide glass based fibers. The fiber was fabricated using an in-house synthesized glass with optimized nonlinear, rheological and transmission properties in the range of 500–4800 nm. The photonic cladding consists of 8 rings of air holes. The fiber has a zero dispersion wavelength (ZDW at 1460 nm. Its dispersion is determined mainly by the first ring of holes in the cladding with a relative hole size of 0.73. Relative hole size of the remaining seven rings is 0.54, which allows single mode performance of the fiber in the infrared range and reduces attenuation of the fundamental mode. The fiber is pumped into anomalous dispersion with 150 fs pulses at 1540 nm. Observed spectrum of 700–3000 nm was generated in 2 cm of fiber with pulse energy below 4 nJ. A flatness of 5 dB was observed in 950–2500 nm range.

  18. Modeling of octave-spanning Kerr frequency combs using a generalized mean-field Lugiato-Lefever model

    OpenAIRE

    Coen, Stephane; Randle, Hamish G.; Sylvestre, Thibaut; Erkintalo, Miro

    2012-01-01

    A generalized Lugiato-Lefever equation is numerically solved with a Newton-Raphson method to model Kerr frequency combs. We obtain excellent agreement with past experiments, even for an octave-spanning comb. Simulations are much faster than with any other technique despite including more modes than ever before. Our study reveals that Kerr combs are associated with temporal cavity solitons and dispersive waves, and opens up new avenues for the understanding of Kerr comb formation.

  19. Modeling of octave-spanning Kerr frequency combs using a generalized mean-field Lugiato-Lefever model.

    Science.gov (United States)

    Coen, Stéphane; Randle, Hamish G; Sylvestre, Thibaut; Erkintalo, Miro

    2013-01-01

    A generalized Lugiato-Lefever equation is numerically solved with a Newton-Raphson method to model Kerr frequency combs. We obtain excellent agreement with past experiments, even for an octave-spanning comb. Simulations are much faster than with any other technique despite including more modes than ever before. Our study reveals that Kerr combs are associated with temporal cavity solitons and dispersive waves, and opens up new avenues for the understanding of Kerr-comb formation.

  20. Modeling of octave-spanning Kerr frequency combs using a generalized mean-field Lugiato-Lefever model

    CERN Document Server

    Coen, Stephane; Erkintalo, Miro

    2013-01-01

    We model Kerr frequency combs with a generalized Lugiato-Lefever equation combined with a Newton-Raphson solver. Results in excellent agreement with past experiments are obtained much faster than with any other technique, and we simulate for the first time to our knowledge an octave-spanning Kerr frequency comb. Our study reveals that Kerr combs are associated with temporal cavity solitons and dispersive waves, and opens up new avenues for the understanding of comb formation in ring resonators.

  1. Extracting Feature Information and its Visualization Based on the Characteristic Defect Octave Frequencies in a Rolling Element Bearing

    Directory of Open Access Journals (Sweden)

    Jianyu Lei

    2007-10-01

    Full Text Available Monitoring the condition of rolling element bearings and defect diagnosis has received considerable attention for many years because the majority of problems in rotating machines are caused by defective bearings. In order to monitor conditions and diagnose defects in a rolling element bearing, a new approach is developed, based on the characteristic defect octave frequencies. The characteristic defect frequencies make it possible to detect the presence of a defect and diagnose in what part of the bearing the defect appears. However, because the characteristic defect frequencies vary with rotational speed, it is difficult to extract feature information from data at variable rotational speeds. In this paper, the characteristic defect octave frequencies, which do not vary with rotation speed, are introduced to replace the characteristic defect frequencies. Therefore feature information can be easily extracted. Moreover, based on characteristic defect octave frequencies, an envelope spectrum array, which associates 3-D visualization technology with extremum envelope spectrum technology, is established. This method has great advantages in acquiring the characteristics and trends of the data and achieves a straightforward and creditable result.

  2. Long-term tinnitus suppression with linear octave frequency transposition hearing AIDS.

    Directory of Open Access Journals (Sweden)

    Elisabeth Peltier

    Full Text Available Over the last three years of hearing aid dispensing, it was observed that among 74 subjects fitted with a linear octave frequency transposition (LOFT hearing aid, 60 reported partial or complete tinnitus suppression during day and night, an effect still lasting after several months or years of daily use. We report in more details on 38 subjects from whom we obtained quantified measures of tinnitus suppression through visual analog scaling and several additional psychoacoustic and audiometric measures. The long-term suppression seems independent of subject age, and of duration and subjective localization of tinnitus. A small but significant correlation was found with audiogram losses but not with high frequency loss slope. Long-term tinnitus suppression was observed for different etiologies, but with a low success rate for sudden deafness. It should be noted that a majority of subjects (23 had a history of noise exposure. Tinnitus suppression started after a few days of LOFT hearing aid use and reached a maximum after a few weeks of daily use. For nine subjects different amounts of frequency shifting were tried and found more or less successful for long-term tinnitus suppression, no correlation was found with tinnitus pitch. When the use of the LOFT hearing aid was stopped tinnitus reappeared within a day, and after re-using the LOFT aid it disappeared again within a day. For about one third of the 38 subjects a classical amplification or a non linear frequency compression aid was also tried, and no such tinnitus suppression was observed. Besides improvements in audiometric sensitivity to high frequencies and in speech discrimination scores, LOFT can be considered as a remarkable opportunity to suppress tinnitus over a long time scale. From a pathophysiological viewpoint these observations seem to fit with a possible re-attribution of activity to previously deprived cerebral areas corresponding to high frequency coding.

  3. SAFE(R): A Matlab/Octave Toolbox (and R Package) for Global Sensitivity Analysis

    Science.gov (United States)

    Pianosi, Francesca; Sarrazin, Fanny; Gollini, Isabella; Wagener, Thorsten

    2015-04-01

    Global Sensitivity Analysis (GSA) is increasingly used in the development and assessment of hydrological models, as well as for dominant control analysis and for scenario discovery to support water resource management under deep uncertainty. Here we present a toolbox for the application of GSA, called SAFE (Sensitivity Analysis For Everybody) that implements several established GSA methods, including method of Morris, Regional Sensitivity Analysis, variance-based sensitivity Analysis (Sobol') and FAST. It also includes new approaches and visualization tools to complement these established methods. The Toolbox is released in two versions, one running under Matlab/Octave (called SAFE) and one running in R (called SAFER). Thanks to its modular structure, SAFE(R) can be easily integrated with other toolbox and packages, and with models running in a different computing environment. Another interesting feature of SAFE(R) is that all the implemented methods include specific functions for assessing the robustness and convergence of the sensitivity estimates. Furthermore, SAFE(R) includes numerous visualisation tools for the effective investigation and communication of GSA results. The toolbox is designed to make GSA accessible to non-specialist users, and to provide a fully commented code for more experienced users to complement their own tools. The documentation includes a set of workflow scripts with practical guidelines on how to apply GSA and how to use the toolbox. SAFE(R) is open source and freely available from the following website: http://bristol.ac.uk/cabot/resources/safe-toolbox/ Ultimately, SAFE(R) aims at improving the diffusion and quality of GSA practice in the hydrological modelling community.

  4. The pipeline system for Octave and Matlab (PSOM: a lightweight scripting framework and execution engine for scientific workflows

    Directory of Open Access Journals (Sweden)

    Pierre eBellec

    2012-04-01

    Full Text Available The analysis of neuroimaging databases typically involves a large number of inter-connected steps called a pipeline. The pipeline system for Octave and Matlab (PSOM is a flexible framework for the implementation of pipelines in the form of Octave or Matlab scripts. PSOM does not introduce new language constructs to specify the steps and structure of the workflow. All steps of analysis are instead described by a regular Matlab data structure, documenting their associated command and options, as well as their input, output and cleaned-up files. The PSOM execution engine provides a number of automated services: (1 it executes jobs in parallel on a local computing facility as long as the dependencies between jobs allow for it and sufficient resources are available; (2 it generates a comprehensive record of the pipeline stages and the history of execution, which is detailed enough to fully reproduce the analysis; (3 if an analysis is started multiple times, it executes only the parts of the pipeline that need to be reprocessed. PSOM is distributed under an opensource MIT license and can be used without restriction for academic or commercial projects. The package has no external dependencies besides Matlab or Octave, is straightforward to install and supports of variety of operating systems (Linux, Windows, Mac. We ran several benchmark experiments on a public database including 200 subjects, using a pipeline for the preprocessing of functional magnetic resonance images. The benchmark results showed that PSOM is a powerful solution for the analysis of large databases using local or distributed computing resources.

  5. The pipeline system for Octave and Matlab (PSOM): a lightweight scripting framework and execution engine for scientific workflows.

    Science.gov (United States)

    Bellec, Pierre; Lavoie-Courchesne, Sébastien; Dickinson, Phil; Lerch, Jason P; Zijdenbos, Alex P; Evans, Alan C

    2012-01-01

    The analysis of neuroimaging databases typically involves a large number of inter-connected steps called a pipeline. The pipeline system for Octave and Matlab (PSOM) is a flexible framework for the implementation of pipelines in the form of Octave or Matlab scripts. PSOM does not introduce new language constructs to specify the steps and structure of the workflow. All steps of analysis are instead described by a regular Matlab data structure, documenting their associated command and options, as well as their input, output, and cleaned-up files. The PSOM execution engine provides a number of automated services: (1) it executes jobs in parallel on a local computing facility as long as the dependencies between jobs allow for it and sufficient resources are available; (2) it generates a comprehensive record of the pipeline stages and the history of execution, which is detailed enough to fully reproduce the analysis; (3) if an analysis is started multiple times, it executes only the parts of the pipeline that need to be reprocessed. PSOM is distributed under an open-source MIT license and can be used without restriction for academic or commercial projects. The package has no external dependencies besides Matlab or Octave, is straightforward to install and supports of variety of operating systems (Linux, Windows, Mac). We ran several benchmark experiments on a public database including 200 subjects, using a pipeline for the preprocessing of functional magnetic resonance images (fMRI). The benchmark results showed that PSOM is a powerful solution for the analysis of large databases using local or distributed computing resources.

  6. Diseño e implementación de una GUI para octave orientado al cálculo

    OpenAIRE

    2012-01-01

    En este artículo se expone la línea de investigación actual de trabajo, centrado en el diseño y desarrollo de una interface de usuario grafica (Graphical User Interface, GUI) para Octave orientado al Cálculo. Algunos de los objetivos que se pretenden alcanzar, es que sea distribuido bajo licencia GNU, con la visión de que sea un punto de partida para proyectos futuros, con las características de multiplataforma y portable.

  7. Prototype partial one-third octave band spectrum analyzer for acoustic, vibration and other wideband data for flight applications

    Science.gov (United States)

    1973-01-01

    The design refinement of a compact frequency analyzer for measurement and analysis on board flight vehicles is discussed. The analyzer has been constructed in a partial one-third octave band configuration with six filters and detectors spaced by the square root of 10 from 316 Hz to 100,000 Hz and a broadband detector channel. The analyzer has been tested over a temperature range of 40 to 120 F at a pressure of one atmosphere, and at a temperature of 75 F at an absolute pressure of 0.000001 torr, and has demonstrated at least 60 db of dynamic range.

  8. Neonate Auditory Brainstem Responses to CE-Chirp and CE-Chirp Octave Band Stimuli I: Versus Click and Tone Burst Stimuli.

    Science.gov (United States)

    Cobb, Kensi M; Stuart, Andrew

    The purpose of the study was to generate normative auditory brainstem response (ABR) wave component peak latency and amplitude values for neonates with air- and bone-conducted CE-Chirps and air-conducted CE-Chirp octave band stimuli (i.e., 500, 1000, 2000, and 4000 Hz). A second objective was to compare neonate ABRs to CE-Chirp stimuli with ABR responses to traditional click and tone burst stimuli with the same stimulus parameters. Participants were 168 healthy neonates. ABRs were obtained to air- and bone-conducted CE-Chirp and click stimuli and air-conducted CE-Chirp octave band and tone burst stimuli. The effects of stimulus level, rate, and polarity were examined with air-conducted CE-Chirps and clicks. The effect of stimulus level was also examined with bone-conducted CE-Chirps and clicks and air-conducted CE-Chirp octave band stimuli. In general, ABR wave V amplitudes to air- and bone-conducted CE-Chirp stimuli were significantly larger (p CE-Chirp and CE-Chirp octave band stimuli relative to traditional click and tone burst stimuli. ABRs to air- and bone-conducted CE-Chirps and CE-Chirp octave band stimuli may be valuable in the assessment of newborn infants. However, the prognostic value of such stimuli needs to be validated.

  9. Application of Open Source Scientific Numerical Calculation Software QtOctave%开源科学数值计算软件QtOctave的应用

    Institute of Scientific and Technical Information of China (English)

    关东; 岳云娟; 邹晨

    2012-01-01

    QtOctave is a Linux operating system based on graphical interface on the integrated development environment of scientific numerical calculation software. It is a Matlab-like software by the GNU project support, and its Octave language is compatible with Matlab m language. QtOctave can be easily applied to a lorentz attractor numerical simulation experiment. It shows that QtOctave has the same advantages as Matalb: easy to use, easy to learn and powerful. QtOctave has a high val- ue of popularization in the numerical simulation experiment and teaching activities.%QtOctave是一个Linux操作系统之上的基于图形界面的集成开发环境的科学数值计算软件。它是一个由GNU项目支持的类Matlab软件,其使用的Octave语言兼容Matlab的m语言。以使用QtOctave进行洛伦兹吸引子的数值模拟实验为例,说明该软件和Matlab同样具有易使用、易学习、功能强大的优点,在数值模拟实验和教学活动中具备较好的推广价值。

  10. Unas octavas de Cairasco sobre Agaete. ¿Censuradas? / A few octaves of Cairasco about Agaete. Censored?

    Directory of Open Access Journals (Sweden)

    Antonio Henríquez Jiménez

    2014-12-01

    Full Text Available Se intenta explicar la desaparición de unas octavas de la segunda edición de la Tercera parte del Templo militante de Cairasco donde nombra a familiares suyos, por las desavenencias entre un miembro del Cabildo Catedral y sus herederos. Conecto esta noticia con la desaparición de otras octavas del manuscrito del Goffredo famoso, la traducción de Cairasco de la obra de Tasso, donde se nombra a otro familiar del poeta. Extiendo la nota a la pervivencia de algunos de los versos censurados en un cancionero manuscrito bilingüe portugués-castellano de distintos poetas, y su conexión con otros autores de la época.It is an attempt to explain the disappearance of some octaves from the second edition of the Third part of Cairasco’s Templo militante, where appoints some of his relatives, because of the disagreements between a member of the Cathedral Chapter and his heirs. I connect this story with the disappearance of other octaves of the manuscript of Goffredo famoso, Cairasco’s translation of Tasso’s work, which refers to another relative of the poet. The note deals with the survival of some of the verses censored in a bilingual Portuguese-Castilian handwritting anthology by different poets, and its connection with other authors of that period. 

  11. 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...

  12. Octave-spanning supercontinuum generation in highly nonlinear silica fibres based on cost-effective fibre amplifiers

    Science.gov (United States)

    Saldaña-Díaz, J. E.; Jarabo, S.; Salgado-Remacha, F. J.

    2016-09-01

    We report a simple method for supercontinuum generation. The set-up consists of an Er-doped mode-locked fibre laser, used as seed, and a highly nonlinear fibre with zero dispersion at 1550 nm. Thus, all the components are easily attainable. With this novel system the requirements in terms of control of dispersion are reduced. In addition, the spectral width is optimized using fibres with positive and negative dispersion. The supercontinuum emission is characterized by means of an optical spectrum analyser and a PbS photodetector, showing an octave-spanning spectral width, with a flat profile from 1100 nm up to 2100 nm. Compared to other supercontinuum sources, this new proposal results in a very competitive and attainable system, particularly in the 1500-2100 nm region.

  13. Single envelope equation modelling of multi-octave comb arrays in microresonators with quadratic and cubic nonlinearity

    CERN Document Server

    Hansson, T; Erkintalo, M; Anthony, J; Coen, S; Ricciardi, I; De Rosa, M; Wabnitz, S

    2016-01-01

    We numerically study, by means of the single envelope equation, the generation of optical frequency combs ranging from the visible to the mid-infrared spectral regions in resonators with quadratic and cubic nonlinearities. Phase-matched quadratic wave-mixing processes among the comb lines can be activated by low-power continuous wave pumping in the near infrared of a radially poled lithium niobate whispering gallery resonator (WGR). We examine both separate and co-existing intra-cavity doubly resonant second-harmonic generation and parametric oscillation processes, and find that modulation instabilities may lead to the formation of coupled comb arrays extending over multiple octaves. In the temporal domain, the frequency combs may correspond to pulse trains, or isolated pulses.

  14. Octave-wide photonic band gap in three-dimensional plasmonic Bragg structures and limitations of radiative coupling.

    Science.gov (United States)

    Taubert, Richard; Dregely, Daniel; Stroucken, Tineke; Christ, Andre; Giessen, Harald

    2012-02-21

    Radiative coupling between oscillators is one of the most fundamental subjects of research in optics, where particularly a Bragg-type arrangement is of interest and has already been applied to atoms and excitons in quantum wells. Here we explore this arrangement in a plasmonic structure. We observe the emergence of an octave-wide photonic band gap in the optical regime. Compared with atomic or excitonic systems, the coupling efficiency of the particle plasmons utilized here is several orders of magnitude larger and widely tunable by changing the size and geometry of the plasmonic nanowires. We are thus able to explore the regime where the coupling distance is even limited by the large radiative decay rate of the oscillators. This Bragg-stacked coupling scheme will open a new route for future plasmonic applications such as far-field coupling to quantum emitters without quenching, plasmonic cavity structures and plasmonic distributed gain schemes for spasers.

  15. Multiple-octave spanning high-energy mid-IR supercontinuum generation in bulk quadratic nonlinear crystals

    DEFF Research Database (Denmark)

    Zhou, Binbin; Bache, Morten

    2016-01-01

    supercontinuum generation in the visible, near-IR, and short-wavelength mid-IR. Here we conduct an experiment where a mid-IR crystal is pumped in the mid-IR. The crystal is cut for noncritical interaction, so the three-wave mixing of a single mid-IR femtosecond pump source leads to highly phase-mismatched second......-harmonic generation. This self-acting cascaded process leads to the formation of a self-defocusing soliton at the mid-IR pump wavelength and after the self-compression point multiple octave-spanning supercontinua are observed. The results were recorded in a commercially available crystal LiInS2 pumped in the 3-4 µm...

  16. Preliminary study of acoustic analysis for evaluating speech-aid oral prostheses: Characteristic dips in octave spectrum for comparison of nasality

    Directory of Open Access Journals (Sweden)

    Yen-Liang Chang

    2015-10-01

    Conclusion: Acoustic analysis may be a potential technique for evaluating the functions of oral speech-aid prostheses, which eliminates dysfunctions due to the surgical defect and contributes to a high percentage of intelligible speech. Octave spectrum analysis may also be a valuable tool for detecting changes in nasality characteristics of the voice during prosthetic treatment of VPI.

  17. CoSMoMVPA: Multi-Modal Multivariate Pattern Analysis of Neuroimaging Data in Matlab/GNU Octave.

    Science.gov (United States)

    Oosterhof, Nikolaas N; Connolly, Andrew C; Haxby, James V

    2016-01-01

    Recent years have seen an increase in the popularity of multivariate pattern (MVP) analysis of functional magnetic resonance (fMRI) data, and, to a much lesser extent, magneto- and electro-encephalography (M/EEG) data. We present CoSMoMVPA, a lightweight MVPA (MVP analysis) toolbox implemented in the intersection of the Matlab and GNU Octave languages, that treats both fMRI and M/EEG data as first-class citizens. CoSMoMVPA supports all state-of-the-art MVP analysis techniques, including searchlight analyses, classification, correlations, representational similarity analysis, and the time generalization method. These can be used to address both data-driven and hypothesis-driven questions about neural organization and representations, both within and across: space, time, frequency bands, neuroimaging modalities, individuals, and species. It uses a uniform data representation of fMRI data in the volume or on the surface, and of M/EEG data at the sensor and source level. Through various external toolboxes, it directly supports reading and writing a variety of fMRI and M/EEG neuroimaging formats, and, where applicable, can convert between them. As a result, it can be integrated readily in existing pipelines and used with existing preprocessed datasets. CoSMoMVPA overloads the traditional volumetric searchlight concept to support neighborhoods for M/EEG and surface-based fMRI data, which supports localization of multivariate effects of interest across space, time, and frequency dimensions. CoSMoMVPA also provides a generalized approach to multiple comparison correction across these dimensions using Threshold-Free Cluster Enhancement with state-of-the-art clustering and permutation techniques. CoSMoMVPA is highly modular and uses abstractions to provide a uniform interface for a variety of MVP measures. Typical analyses require a few lines of code, making it accessible to beginner users. At the same time, expert programmers can easily extend its functionality. Co

  18. 1.5 octave wideband traveling-wave tube with heavily-loaded helical slow-wave structure

    CERN Document Server

    Jung, S S; Han, S T; Jeon, S; Soukhov, A V; Park, G S

    2001-01-01

    Summary form only given. A 1.5 octave wideband traveling wave tube (TWT) with a helical structure loaded by the thick dielectric support rods has been designed and fabricated for the frequency range of 6-18 GHz. Helical slow-wave structure (SWS) was modeled using three- dimensional HFSS code. The nonresonant perturbation measurement using a thin copper wire with 20 mm diameter was performed to verify the phase velocity and interaction impedance of the helical structure. The performance of TWT was predicted using one-dimensional (1-D) nonlinear theory involving a macro particle beam model. The harmonic effect was considered in this calculation. The measured performance of TWT using a beam voltage 4 kV and a beam current of 120 mA was shown. These results were compared with a 1-D nonlinear theory. The comparison showed that the measured power and gain were less than the predicted one but had a similar trend over the operating frequency range. The 2nd harmonic levels at the low frequency range of 6-8 GHz were ne...

  19. Invited Article: Multiple-octave spanning high-energy mid-IR supercontinuum generation in bulk quadratic nonlinear crystals

    Science.gov (United States)

    Zhou, Binbin; Bache, Morten

    2016-08-01

    Bright and broadband coherent mid-IR radiation is important for exciting and probing molecular vibrations. Using cascaded nonlinearities in conventional quadratic nonlinear crystals like lithium niobate, self-defocusing near-IR solitons have been demonstrated that led to very broadband supercontinuum generation in the visible, near-IR, and short-wavelength mid-IR. Here we conduct an experiment where a mid-IR crystal is pumped in the mid-IR. The crystal is cut for noncritical interaction, so the three-wave mixing of a single mid-IR femtosecond pump source leads to highly phase-mismatched second-harmonic generation. This self-acting cascaded process leads to the formation of a self-defocusing soliton at the mid-IR pump wavelength and after the self-compression point multiple octave-spanning supercontinua are observed. The results were recorded in a commercially available crystal LiInS2 pumped in the 3-4 μm range with 85 fs 50 μJ pulse energy, with the broadest supercontinuum covering 1.6-7.0 μm. We measured up 30 μJ energy in the supercontinuum, and the energy promises to scale favorably with an increased pump energy. Other mid-IR crystals can readily be used as well to cover other pump wavelengths and target other supercontinuum wavelength ranges.

  20. Development of octave-band planar ortho-mode transducer with kinetic inductance detector for LiteBIRD

    Science.gov (United States)

    Shu, Shibo; Sekiguchi, Shigeyuki; Sekine, Masakazu; Sekimoto, Yutaro; Nitta, Tom; Dominjon, Agnes; Noguchi, Takashi; Naruse, Masato; Shan, Wenlei

    2016-07-01

    We demonstrate a design of octave-band circular waveguide coupled planar ortho-mode transducer (OMT) with Microwave Kinetic Inductance Detector (MKID) for LiteBIRD mission, a small-size satellite for cosmic microwave background (CMB) polarization signal full-sky mapping. In our 4-pixel prototype design, each single pixel is sensitive to two frequency bands (90 GHz and 150 GHz) corresponding to atmospheric window. Silicon on insulator (SOI) has been selected for OMT structure and a broadband coplanar waveguide (CPW) 180-degree hybrid is designed to cancel higher modes of a circular waveguide and add two signals from the fundamental mode together. After a microstrip bandpass diplexer, a microstrip line to coplanar waveguide transition structure couples signal to MKID. MKIDs are designed with Nb ground plane and Al/Ti bilayer center strip line to achieve low frequency response and high sensitivity. A 4-pixel module is under test and we plan to deploy these multi- chroic polarimeters on Nobeyama 45m telescope.

  1. Threshold Shifts and Cochlear Injury in Chinchillas Exposed to Octave Bands of Noise Centered at 63 and 1000 HZ for 9 Days,

    Science.gov (United States)

    1982-10-01

    2.0 kHz. The 1000-Hz octave bands produced more permanent threshold shift at the lower 33 %.. . %. , Ic CV) 1 00 EuG LLS) 2C C LJ5- 0o x ezw CA OJ...Officer Commander Naval Medical R&D Command US Army Transportation School National Naval Medical Center ATTN: ATSPoTD-ST Bethesda, 1D 20014 (1) Fort

  2. Gestión del riesgo en la seguridad de la información con base en la Norma ISO/IEC 27005 de 2011, proponiendo una adaptación de la Metodología OCTAVE-S. Caso de estudio: proceso de inscripciones y admisiones en la división de admisión registro y control AC

    Directory of Open Access Journals (Sweden)

    Diego Espinosa T

    2014-12-01

    Full Text Available Este documento presenta la aplicación de la metodología OCTAVE-s para el análisis y gestión del riesgo en la seguridad de la información, adaptada al proceso Inscripciones y Admisiones, en la División de Admisión, Registro y Control Académico (DARCA de la Universidad del Cauca; siguiendo las directrices de la norma ISO/IEC 27005:2011. Además se incluye la estructura del proceso, y el procedimiento escogido como caso de estudio para aplicar el tratamiento del riesgo. Finalmente, se muestran los resultados obtenidos y las conclusiones de la gestión del riesgo con la metodología adaptada.

  3. Filament-induced visible-to-mid-IR supercontinuum in a ZnSe crystal: Towards multi-octave supercontinuum absorption spectroscopy

    Science.gov (United States)

    Mouawad, O.; Béjot, P.; Billard, F.; Mathey, P.; Kibler, B.; Désévédavy, F.; Gadret, G.; Jules, J.-C.; Faucher, O.; Smektala, F.

    2016-10-01

    We report on the generation of multiple-octave supercontinuum laser source spanning from 0.5 μm to 11 μm induced by multi-filamentation in a ZnSe crystal. The generated supercontinuum is both spatially and spectrally characterized. It is then exploited in a proof-of-principle experiment for methane spectroscopy measurements by means of the supercontinuum absorption spectroscopy technique. The entire absorption spectrum is successfully recorded within the whole spectral bandwidth of the supercontinuum. Experimental results are in fairly good agreement with the HITRAN database, confirming the reliability and stability over several hours of the generated supercontinuum.

  4. Mid-infrared supercontinuum generation spanning 1.8 octaves using step-index indium fluoride fiber pumped by a femtosecond fiber laser near 2 µm.

    Science.gov (United States)

    Salem, Reza; Jiang, Zack; Liu, Dongfeng; Pafchek, Robert; Gardner, David; Foy, Paul; Saad, Mohammed; Jenkins, Doug; Cable, Alex; Fendel, Peter

    2015-11-30

    A nearly two-octave wide coherent mid-infrared supercontinuum is demonstrated in a dispersion-engineered step-index indium fluoride fiber pumped near 2 µm. The pump source is an all-fiber femtosecond laser with 100 fs pulse width, 570 mW average power and 50 MHz repetition rate. The supercontinuum spectrum spans from 1.25 µm to 4.6 µm. Numerical modelling of the supercontinuum spectra show good agreement with the measurements. The coherence of the supercontinuum is calculated using a numerical model and shows a high degree of coherence across the generated bandwidth allowing it to be used for frequency comb applications.

  5. Simulación en Matlab, Scilab y GNU Octave del reformado de etanol con vapor de agua para producir hidrógeno en un microrreactor

    OpenAIRE

    Barroso Rodríguez, Pablo

    2015-01-01

    En este trabajo se realizará una simulación en MATLAB, SCILAB (sólo una de las dos pàrtes) y GNU OCTAVE del reformado de etanol con vapor de agua para producir hidrógeno en un microrreactor de sección reactangular con una serie de microcanales con catalizador en su superficie de Paladio y de determinada longitud. En dos microcanales contigüos pasarán una corriente de gases reactivos por uno de ellos y gases de combustión por otro. Los gases reactivos serán vapores de agua y eta...

  6. Generating mid-IR octave-spanning supercontinua and few-cycle pulses with solitons in phase-mismatched quadratic nonlinear crystals

    DEFF Research Database (Denmark)

    Bache, Morten; Guo, Hairun; Zhou, Binbin

    2013-01-01

    of the promising crystals: in one case soliton pulse compression from 50 fs to 15 fs (1.5 cycles) at 3.0 μm is achieved, and at the same time a 3-cycle dispersive wave at 5.0 μm is formed that can be isolated using a long-pass filter. In another example we show that extremely broadband supercontinua can form......We discuss a novel method for generating octave-spanning supercontinua and few-cycle pulses in the important mid-IR wavelength range. The technique relies on strongly phase-mismatched cascaded second-harmonic generation (SHG) in mid-IR nonlinear frequency conversion crystals. Importantly we here...

  7. Octave-spanning supercontinuum generation at telecommunications wavelengths in a precisely dispersion- and length-controlled silicon-wire waveguide with a double taper structure

    Science.gov (United States)

    Ishizawa, Atsushi; Goto, Takahiro; Kou, Rai; Tsuchizawa, Tai; Matsuda, Nobuyuki; Hitachi, Kenichi; Nishikawa, Tadashi; Yamada, Koji; Sogawa, Tetsuomi; Gotoh, Hideki

    2017-07-01

    We demonstrate on-chip octave-spanning supercontinuum (SC) generation with a Si-wire waveguide (SWG). We precisely controlled the SWG width so that the group velocity becomes flat over a wide wavelength range. By adjusting the SWG length, we could reduce the optical losses due to two-photon absorption and pulse propagation. In addition, for efficient coupling between the laser pulse and waveguide, we fabricated a two-step inverse taper at both ends of the SWG. Using a 600-nm-wide SWG, we were able to generate a broadband SC spectrum at wavelengths from 1060 to 2200 nm at a -40 dB level with only 50-pJ laser energy from an Er-doped fiber laser oscillator. We found that we can generate an on-chip broadband SC spectrum with an SWG with a length even as small as 1.7 mm.

  8. Over-five octaves wide Raman combs in high-power picosecond-laser pumped H(2)-filled inhibited coupling Kagome fiber.

    Science.gov (United States)

    Benoît, Aurélien; Beaudou, Benoit; Alharbi, Meshaal; Debord, Benoit; Gérôme, Frédéric; Salin, François; Benabid, Fetah

    2015-06-01

    We report on the generation of over 5 octaves wide Raman combs using inhibited coupling Kagome guiding hollow-core photonic crystal fiber filled with hydrogen and pumped with 22.7 W average power and 27 picosecond pulsed fiber laser. Combs spanning from ~321 nm in the UV to ~12.5 µm in the long-wavelength IR (i.e. from 24 THz to 933 THz) with different spectral content and with an output average power of up to ~10 W were generated. In addition to the clear potential of such a comb as a laser source emitting at spectral ranges, which existing technology poorly addresses like long-wavelength IR and UV, the combination of high Raman net gain and short pump-pulse duration makes these spectra an excellent candidate for intra-pulse waveform synthesis.

  9. Neonate Auditory Brainstem Responses to CE-Chirp and CE-Chirp Octave Band Stimuli II: Versus Adult Auditory Brainstem Responses.

    Science.gov (United States)

    Cobb, Kensi M; Stuart, Andrew

    The purpose of the study was to examine the differences in auditory brainstem response (ABR) latency and amplitude indices to the CE-Chirp stimuli in neonates versus young adults as a function of stimulus level, rate, polarity, frequency and gender. Participants were 168 healthy neonates and 20 normal-hearing young adults. ABRs were obtained to air- and bone-conducted CE-Chirps and air-conducted CE-Chirp octave band stimuli. The effects of stimulus level, rate, and polarity were examined with air-conducted CE-Chirps. The effect of stimulus level was also examined with bone-conducted CE-Chirps and CE-Chirp octave band stimuli. The effect of gender was examined across all stimulus manipulations. In general, ABR wave V amplitudes were significantly larger (p CE-Chirp stimuli with all stimulus manipulations. For bone-conducted CE-Chirps, infants had significantly shorter wave V latencies than adults at 15 dB nHL and 45 dB nHL (p = 0.02). Adult wave V amplitude was significantly larger for bone-conducted CE-Chirps only at 30 dB nHL (p = 0.02). The effect of gender was not statistically significant across all measures (p > 0.05). Significant differences in ABR latencies and amplitudes exist between newborns and young adults using CE-Chirp stimuli. These differences are consistent with differences to traditional click and tone burst stimuli and reflect maturational differences as a function of age. These findings continue to emphasize the importance of interpreting ABR results using age-based normative data.

  10. 核能谱分析开源软件Octave在ARM/DSP架构下的移植%Nuclear spectrum analysis of open source software Octave transplanted under the architecture of ARM/DSP

    Institute of Scientific and Technical Information of China (English)

    王远; 何剑锋; 余加东; 王芹; 肖海玲; 李伦辉

    2015-01-01

    Aiming at the problem that PC platform nuclear spectrum analysis software has many shortages, such as high cost, large value, limited application range, etc, a kind of nuclear energy spectrum analysis system with ARM/DSP architecture as the core is designed and realized. The Devkit8500D evaluation board embedded DM3730 of TI company is used as the development and test platform for the system. It uses the Linux operating system, through scientific calculation software Octave loading and processing original nuclear spectrum data and the energy spectrum visualization displays on the TFT LCD screen. For the Octave transplantation , adding the necessary dependent libraries and header files, using cross tool chain to compile Octave, with the help of ext2 format TF card to transplant it into the Devkit8500D platform. The test results of nuclear spectrum data show that the scheme of system has data processing with high efficiency, good real-time performance, good stability and portability, and a strong practical value.%针对基于 PC 平台的核能谱分析软件成本高、体积大、使用范围受限等问题,设计及实现了一种以ARM/DSP 架构为核心的核能谱分析系统。系统以内嵌TI 公司DM3730的Devkit8500D 评估板为开发测试平台,采用Linux 操作系统,通过科学计算软件Octave 的gunplot 加载处理原始核能谱数据并将能谱图显示在 TFT 液晶屏幕上。对于Octave的移植工作,添加必需依赖库及头文件,利用交叉工具链编译Octave ,借助ext2格式TF卡将其移植到Devkit8500D平台。核能谱数据测试结果表明,该系统数据处理效率高、实时性好,具备良好的稳定性、便携性,拥有很强的实用价值。

  11. Relation of focal hair-cell lesions to noise-exposure parameters from a 4- or a 0.5-kHz octave band of noise.

    Science.gov (United States)

    Harding, Gary W; Bohne, Barbara A

    2009-08-01

    In a previous study, we examined the relation between total energy in a noise exposure and the percentage losses of outer (OHC) and inner (IHC) hair cells in the basal and apical halves of 607 chinchilla cochleae [Harding, G.W., Bohne, B.A., 2004a. Noise-induced hair-cell loss and total exposure energy: analysis of a large data set. J. Acoust. Soc. Am. 115, 2207-2220]. The animals had been exposed continuously to either a 4-kHz octave band of noise (OBN) at 47-108 dB SPL for 0.5h-36 d, or a 0.5-kHz OBN at 65-128 dB SPL for 3.5h-433 d. Interrupted exposures were also employed with both OBNs. Post-exposure recovery times ranged from 0 to 913 days. Cluster analysis was used to separate the data into three magnitudes of damage. The data were also separated into recovery times of 0 days (acute) and >0 days (chronic) and the apical and basal halves of the organ of Corti (OC). A substantial part of these hair-cell losses occurred in focal lesions (i.e., >or=50% loss of IHCs, OHCs or both over a distance of >or=0.03 mm). This aspect of the damage from noise was not included in the previous analysis. The present analysis describes, within the same three clusters, the apex-to-base distribution of 1820 focal lesions found in 468 of 660 (71%) noise-exposed cochleae. In these cochleae, OC length in mm was converted to percent distance from the apex. The lesion data were analyzed for location in percent distance from the apex and size (mm) of the lesions. In 55 of 140 (39%) non-noise-exposed, control OCs, there were 186 focal hair-cell lesions, the characteristics of which were also determined. Focal lesions with hair-cell loss >or=50% involved predominantly OHCs, IHCs only, or both OHCs and IHCs (i.e., combined OHC-IHC lesions). The predominantly OHC and combined lesions were pooled together for the analysis. The distributions of lesion location (in percent distance from the apex), weighted by lesion size (in percent of OC length) were tallied in 2%-distance bins. In controls

  12. 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 ...

  13. 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 ...

  14. 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.

  15. 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 ...

  16. 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. ...

  17. 2.5-D Large-Signal Analysis and Design for the Octave Helic TWT%倍频程螺旋线行波管2.5维大信号分析和设计

    Institute of Scientific and Technical Information of China (English)

    邓蘅; 周培章; 陈道满; 胥辉; 朱莹; 张国兴

    2001-01-01

    本文利用2.5维大信号分析程序和辅助分析程序,对一只7~18 GHz带宽,2~2.5 kW脉冲输出功率的螺旋线行波管进行计算机模拟,电子注感应电流基波分量在螺旋线慢波系统高频场中的相位分析和最佳工作点分析。在此基础上,探讨了色散曲线布局,衰减器配置,切断位置,再同步设计等倍频程螺旋线行波管的设计方法。%In this paper,computer simulation and phase analysis of the fundamental components of the induced current of the electron beam in RF filed of the helix slow-wave system and the optimum operation analysis for a 7-18 GHz band,2-2.5 kW pulsed output power helix traveling-wave tube (TWT) are described by means of the 2.5-D large-signal analysis code and other supplemental codes.Under this condition,the dispersion profile,the position of attenuator,server and resynchronization designs for the octave helix TWT are discussed.

  18. Risk Assessment Model Design of E-government Extranet Risk Assessment Based on OCTAVE%基于OCTAVE的一个电子政务外网等级测评风险计算模型设计

    Institute of Scientific and Technical Information of China (English)

    蔡昌许; 蔡昌曙

    2014-01-01

    Risk Assessment includes assets, thread, vulnerability Identification and assignment. Based on OCTAVE evaluation model, to identificate and assign assets, thread, vulnerability, brain storming, Delphi, group decision-making methods are used comprehensively. To compute assets risk value used weight method, the expert consultation method is used. To compute Threat probability, Markov method is used, and finally, computing scheme of triple is added to quadruple,adding a tuple of safety protec⁃tion measures.%风险评估包含资产、威胁、脆弱性的赋值以及风险的计算等。该文以OCTAVE评估模型为基础对风险计算三元组识别与赋值进行研究,提出综合使用头脑风暴、德尔菲法、用群体决策方法进行资产、威胁、脆弱性的识别与赋值,对资产风险价值的加权计算参数采用专家咨询法等;采用马尔可夫方法计算动态信息系统威胁发生概率;对风险的计算模型进行研究,增加安全防护措施一个元组,把风险计算的三元组改进为四元组。

  19. 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 ...

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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....

  5. 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.

  6. 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.

  7. 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)

  8. 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 ...

  9. 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...

  10. 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.

  11. 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...

  12. 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...

  13. Programming for computations MATLAB/Octave : a gentle introduction to numerical simulations with MATLAB/Octave

    CERN Document Server

    Linge, Svein

    2016-01-01

    This book presents computer programming as a key method for solving mathematical problems. There are two versions of the book, one for MATLAB and one for Python. The book was inspired by the Springer book TCSE 6: A Primer on Scientific Programming with Python (by Langtangen), but the style is more accessible and concise, in keeping with the needs of engineering students. The book outlines the shortest possible path from no previous experience with programming to a set of skills that allows the students to write simple programs for solving common mathematical problems with numerical methods in engineering and science courses. The emphasis is on generic algorithms, clean design of programs, use of functions, and automatic tests for verification.

  14. 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.

  15. 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 ...

  16. 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...

  17. 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 ...

  18. 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 ...

  19. [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.

  20. 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.

  1. 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 ...

  2. 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)

  3. 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 ...

  4. 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 ...

  5. 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.

  6. 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.

  7. Estimating Propensity Parameters using Google PageRank and Genetic Algorithms

    Directory of Open Access Journals (Sweden)

    David Murrugarra

    2016-11-01

    Full Text Available Stochastic Boolean networks, or more generally, stochastic discrete networks, are an important class of computational models for molecular interaction networks. The stochasticity stems from the updating schedule. Standard updating schedules include the synchronous update, where all the nodes are updated at the same time, and the asynchronous update where a random node is updated at each time step. The former produces a deterministic dynamics while the latter a stochastic dynamics. A more general stochastic setting considers propensity parameters for updating each node. Stochastic Discrete Dynamical Systems (SDDS are a modeling framework that considers two propensity parameters for updating each node and uses one when the update has a positive impact on the variable, that is, when the update causes the variable to increase its value, and uses the other when the update has a negative impact, that is, when the update causes it to decrease its value. This framework offers additional features for simulations but also adds a complexity in parameter estimation of the propensities. This paper presents a method for estimating the propensity parameters for SDDS. The method is based on adding noise to the system using the Google PageRank approach to make the system ergodic and thus guaranteeing the existence of a stationary distribution. Then with the use of a genetic algorithm, the propensity parameters are estimated. Approximation techniques that make the search algorithms efficient are also presented and Matlab/Octave code to test the algorithms are available at~href{http://www.ms.uky.edu/~dmu228/GeneticAlg/Code.html}{http://www.ms.uky.edu/$sim$dmu228GeneticAlgCode.html}.

  8. 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.

  9. 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.

  10. 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. ...

  11. 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 ...

  12. 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, ...

  13. 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 ...

  14. 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 ...

  15. 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.

  16. 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 ...

  17. 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 ...

  18. 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...

  19. 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...

  20. 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 ...

  1. 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 ...

  2. 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.

  3. 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.

  4. 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…

  5. 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.

  6. 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

  7. 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.

  8. 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…

  9. 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

  10. 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...

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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 ...

  16. 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...

  17. 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.

  18. 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.

  19. 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.

  20. A multi octaves directive dielectric lens: The Pyramid Antenna

    NARCIS (Netherlands)

    Marliani, L.; Bruni, S.; Neto, A.

    2005-01-01

    Leaky wave antennas have been investigated for a long time and are typically an inexpensive solution for beam scanning antennas. We have designed a novel antenna topology, named the pyramid antenna, based on the broadband leaky concept. The pyramid antenna, currently covered by a patent application,

  1. 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

  2. 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.

  3. 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.

  4. 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.

  5. 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....

  6. 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...

  7. 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 ...

  8. 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

  9. 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...

  10. 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.

  11. 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 ...

  12. 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.

  13. 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

  14. 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

  15. 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…

  16. 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.

  17. 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…

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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 ...

  5. 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 ...

  6. 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 ...

  7. 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 ...

  8. 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 ...

  9. 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 ...

  10. 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.

  11. 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.

  12. [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.

  13. 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 ...

  14. 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 ...

  15. 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.

  16. 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 ...

  17. 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.

  18. 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.

  19. 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 ...

  20. 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 ...

  1. 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...

  2. 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.

  3. 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 ...

  4. 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.

  5. 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...

  6. 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,...

  7. 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 ...

  8. 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 ...

  9. 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. ...

  10. 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

  11. 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, ...

  12. 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) ...

  13. 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.

  14. 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.

  15. 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.

  16. 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)

  17. 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

  18. 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 ...

  19. 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 ...

  20. 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) ...

  1. 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)

  2. 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 ...

  3. 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: ...

  4. [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.

  5. 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 ...

  6. 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 ...

  7. 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

  8. 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....

  9. 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....

  10. 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....

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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...

  16. 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.

  17. 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.

  18. 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.

  19. 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…

  20. 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…

  1. [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

  2. 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.

  3. 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

  4. 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.

  5. 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

  6. 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.

  7. 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 ...

  8. 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...

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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...

  16. 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...

  17. 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.

  18. 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

  19. [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.

  20. 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...

  1. [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

  2. 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...

  3. 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.

  4. 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.

  5. 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.

  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. 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].

  17. 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.

  18. 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.

  19. 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.

  20. [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.

  1. 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 ...

  2. 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 ...

  3. 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, ...

  4. 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: ...

  5. 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 ...

  6. 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)

  7. 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...

  8. 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.

  9. 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 ...

  10. 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 ...

  11. 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.

  12. 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 ...

  13. 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.

  14. 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 ...

  15. 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 ...

  16. 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...

  17. 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

  18. 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...

  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.

  1. Biological imprinting: Some genetic considerations

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2014-06-21

    Jun 21, 2014 ... Abstract Genetic imprinting represents one of the most puzzling, still unexplained, phenomena in genetics. Changing .... acid defined by the new code comprising the new base), .... advantages constitutes the core concept of evolution. Though .... different mechanisms under independent genetic control. 8.

  2. Moral Fantasy in Genetic Engineering.

    Science.gov (United States)

    Boone, C. Keith

    1984-01-01

    Discusses the main ethical issues generated by the new genetics and suggests ways to think about them. Concerns include "playing God," violation of the natural order of the universe, and abuse of genetic technology. Critical distinctions for making difficult decisions about genetic engineering issues are noted. (DH)

  3. 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

  4. Joining forces for genetic conservation

    Science.gov (United States)

    Gary Man; Emily Boes; Rhoda Maurer; Michael Dosmann; Matt Lobdell; Kevin Conrad; Mike Kintgen; Rebecca Sucher; Martin Nicholson; David Stevenson; Brianna McTeague; Evan Heck; Richard A. Sniezko

    2017-01-01

    Facing a Challenge Non-native diseases and insects as well as a changing climate pose serious threats to native trees in North America. Genetic variation in a species is key to its enduring persistence in the face of these abiotic and biotic threats. Efforts to conserve genetic diversity of North American tree at-risk species will ensure the genetic...

  5. "Genetically Engineered" Nanoelectronics

    Science.gov (United States)

    Klimeck, Gerhard; Salazar-Lazaro, Carlos H.; Stoica, Adrian; Cwik, Thomas

    2000-01-01

    The quantum mechanical functionality of nanoelectronic devices such as resonant tunneling diodes (RTDs), quantum well infrared-photodetectors (QWIPs), quantum well lasers, and heterostructure field effect transistors (HFETs) is enabled by material variations on an atomic scale. The design and optimization of such devices requires a fundamental understanding of electron transport in such dimensions. The Nanoelectronic Modeling Tool (NEMO) is a general-purpose quantum device design and analysis tool based on a fundamental non-equilibrium electron transport theory. NEW was combined with a parallelized genetic algorithm package (PGAPACK) to evolve structural and material parameters to match a desired set of experimental data. A numerical experiment that evolves structural variations such as layer widths and doping concentrations is performed to analyze an experimental current voltage characteristic. The genetic algorithm is found to drive the NEMO simulation parameters close to the experimentally prescribed layer thicknesses and doping profiles. With such a quantitative agreement between theory and experiment design synthesis can be performed.

  6. Genetic engineering in biotechnology

    Energy Technology Data Exchange (ETDEWEB)

    Bedate, C.A.; Morales, J.C.; Lopez, E.H.

    1981-09-01

    The objective of this book is to encourage the use of genetic engineering for economic development. The report covers: (1) Precedents of genetic engineering; (2) a brief description of the technology, including the transfer of DNA in bacteria (vectors, E. coli and B. subtilis hosts, stages, and technical problems), practical examples of techniques used and their products (interferon; growth hormone; insulin; treatment of blood cells, Talasemia, and Lesch-Nyhan syndrome; and more nutritious soya), transfer to higher organisms, and cellular fusion; (3) biological risks and precautions; (4) possible applications (production of hydrogen, hydrocarbons, alcohol, chemicals, enzymes, peptides, viral antigens, monoclonal antibodies, genes, proteins, and insecticides; metal extraction; nitrogen fixation; biodegradation; and new varieties of plants and animals; and (5) international activities.

  7. Information, Genetics and Entropy

    Directory of Open Access Journals (Sweden)

    Julio Ernesto Rubio Barrios

    2015-04-01

    Full Text Available The consolidation of the informational paradigm in molecular biology research concluded on a system to convert the epistemic object into an operational technological object and a stable epistemic product. However, the acceptance of the informational properties of genetic acids failed to clarify the meaning of the concept of information. The “information”’ as a property of the genetic molecules remained as an informal notion that allows the description of the mechanism of inheritance, but it was not specified in a logic–semantic structure. The metaphorical implications associated with the idea of genes as molecules with meaning, questioned the linguistics that seemed too foreign to molecular biology. A reformulation of the concept of information in molecular biology was developed upon the theory of Claude Shannon. The node for the structural coupling between biology, physics and information theory was the identification of an analog structure between the coded messages of Shannon’s theory.

  8. Advances in human genetics

    Energy Technology Data Exchange (ETDEWEB)

    Harris, H.; Hirschhorn, K. (eds.)

    1993-01-01

    This book has five chapters covering peroxisomal diseases, X-linked immunodeficiencies, genetic mutations affecting human lipoproteins and their receptors and enzymes, genetic aspects of cancer, and Gaucher disease. The chapter on peroxisomes covers their discovery, structure, functions, disorders, etc. The chapter on X-linked immunodeficiencies discusses such diseases as agammaglobulinemia, severe combined immunodeficiency, Wiskott-Aldrich syndrome, animal models, linkage analysis, etc. Apolipoprotein formation, synthesis, gene regulation, proteins, etc. are the main focus of chapter 3. The chapter on cancer covers such topics as oncogene mapping and the molecular characterization of some recessive oncogenes. Gaucher disease is covered from its diagnosis, classification, and prevention, to its organ system involvement and molecular biology.

  9. Chemical genetics and regeneration.

    Science.gov (United States)

    Sengupta, Sumitra; Zhang, Liyun; Mumm, Jeff S

    2015-01-01

    Regeneration involves interactions between multiple signaling pathways acting in a spatially and temporally complex manner. As signaling pathways are highly conserved, understanding how regeneration is controlled in animal models exhibiting robust regenerative capacities should aid efforts to stimulate repair in humans. One way to discover molecular regulators of regeneration is to alter gene/protein function and quantify effect(s) on the regenerative process: dedifferentiation/reprograming, stem/progenitor proliferation, migration/remodeling, progenitor cell differentiation and resolution. A powerful approach for applying this strategy to regenerative biology is chemical genetics, the use of small-molecule modulators of specific targets or signaling pathways. Here, we review advances that have been made using chemical genetics for hypothesis-focused and discovery-driven studies aimed at furthering understanding of how regeneration is controlled.

  10. Genetic Transformation in Citrus

    Directory of Open Access Journals (Sweden)

    Dicle Donmez

    2013-01-01

    Full Text Available Citrus is one of the world’s important fruit crops. Recently, citrus molecular genetics and biotechnology work have been accelerated in the world. Genetic transformation, a biotechnological tool, allows the release of improved cultivars with desirable characteristics in a shorter period of time and therefore may be useful in citrus breeding programs. Citrus transformation has now been achieved in a number of laboratories by various methods. Agrobacterium tumefaciens is used mainly in citrus transformation studies. Particle bombardment, electroporation, A. rhizogenes, and a new method called RNA interference are used in citrus transformation studies in addition to A. tumefaciens. In this review, we illustrate how different gene transformation methods can be employed in different citrus species.

  11. Genetics of osteoporosis.

    Science.gov (United States)

    Jin, Huilin; Ralston, Stuart H

    2005-03-01

    Genetic factors play an important role in regulating bone mineral density and other phenotypes relevant to the pathogenesis of osteoporosis such as ultrasound properties of bone, skeletal geometry, and bone turnover. Progress has been made in identifying quantitative traits for regulation of bone mineral density by linkage studies in man and mouse, but relatively few causal genes have been identified. Dramatic progress has been made in identifying the genes responsible for monogenic bone diseases and it appears that polymorphisms in many of these genes also play a role in regulating bone mineral density in the general population. Advances in knowledge about the genetic basis of osteoporosis and other bone diseases offer the prospect of developing new markers for assessment of fracture risk and the identification of novel molecular targets for the design of new drug treatments for osteoporosis.

  12. 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 its natural ability to take up and stably integrate heterologous DNA make Synechococcus sp. PCC 7002 a good candidate for metabolic engineering. For targeted gene inactivation, a suite of vectors were made by adaptation of a system previously used in plants and fungi. The vectors include a cassette...... 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...

  13. Fluid Genetic Algorithm (FGA

    Directory of Open Access Journals (Sweden)

    Ruholla Jafari-Marandi

    2017-04-01

    Full Text Available Genetic Algorithm (GA has been one of the most popular methods for many challenging optimization problems when exact approaches are too computationally expensive. A review of the literature shows extensive research attempting to adapt and develop the standard GA. Nevertheless, the essence of GA which consists of concepts such as chromosomes, individuals, crossover, mutation, and others rarely has been the focus of recent researchers. In this paper method, Fluid Genetic Algorithm (FGA, some of these concepts are changed, removed, and furthermore, new concepts are introduced. The performance of GA and FGA are compared through seven benchmark functions. FGA not only shows a better success rate and better convergence control, but it can be applied to a wider range of problems including multi-objective and multi-level problems. Also, the application of FGA for a real engineering problem, Quadric Assignment Problem (AQP, is shown and experienced.

  14. The expanded genetic alphabet.

    Science.gov (United States)

    Malyshev, Denis A; Romesberg, Floyd E

    2015-10-05

    All biological information, since the last common ancestor of all life on Earth, has been encoded by a genetic alphabet consisting of only four nucleotides that form two base pairs. Long-standing efforts to develop two synthetic nucleotides that form a third, unnatural base pair (UBP) have recently yielded three promising candidates, one based on alternative hydrogen bonding, and two based on hydrophobic and packing forces. All three of these UBPs are replicated and transcribed with remarkable efficiency and fidelity, and the latter two thus demonstrate that hydrogen bonding is not unique in its ability to underlie the storage and retrieval of genetic information. This Review highlights these recent developments as well as the applications enabled by the UBPs, including the expansion of the evolution process to include new functionality and the creation of semi-synthetic life that stores increased information.

  15. MEDICAL GENETICS AND ETHICS

    Directory of Open Access Journals (Sweden)

    Vladimir TRAJKOVSKI

    1999-05-01

    Full Text Available Fast development of medical genetics and it’s subdisciplines is noticed in last thirty years. Modern diagnostic methods made possible to establish human genome and its impairment. In human genetics, ethic is main principle in working. Ethic is science about biggest goodness for human or society, and its aim pro­tecting human health.Today's conditions for leaving and science development open a wide way for ethical approaches, but also for non-ethical manipulations with human even before his conception. We must keep to attitude that without law, with our behavior will must conduct our conscience. It is best to have neutral eugenetic attitude, which allows free ethical choice of each individual, in any case, for the well being of man.

  16. Characterizing the evolution of genetic variance using genetic covariance tensors.

    Science.gov (United States)

    Hine, Emma; Chenoweth, Stephen F; Rundle, Howard D; Blows, Mark W

    2009-06-12

    Determining how genetic variance changes under selection in natural populations has proved to be a very resilient problem in evolutionary genetics. In the same way that understanding the availability of genetic variance within populations requires the simultaneous consideration of genetic variance in sets of functionally related traits, determining how genetic variance changes under selection in natural populations will require ascertaining how genetic variance-covariance (G) matrices evolve. Here, we develop a geometric framework using higher-order tensors, which enables the empirical characterization of how G matrices have diverged among populations. We then show how divergence among populations in genetic covariance structure can then be associated with divergence in selection acting on those traits using key equations from evolutionary theory. Using estimates of G matrices of eight male sexually selected traits from nine geographical populations of Drosophila serrata, we show that much of the divergence in genetic variance occurred in a single trait combination, a conclusion that could not have been reached by examining variation among the individual elements of the nine G matrices. Divergence in G was primarily in the direction of the major axes of genetic variance within populations, suggesting that genetic drift may be a major cause of divergence in genetic variance among these populations.

  17. Genetic secrets: Protecting privacy and confidentiality in the genetic era

    Energy Technology Data Exchange (ETDEWEB)

    Rothstein, M.A. [ed.

    1998-07-01

    Few developments are likely to affect human beings more profoundly in the long run than the discoveries resulting from advances in modern genetics. Although the developments in genetic technology promise to provide many additional benefits, their application to genetic screening poses ethical, social, and legal questions, many of which are rooted in issues of privacy and confidentiality. The ethical, practical, and legal ramifications of these and related questions are explored in depth. The broad range of topics includes: the privacy and confidentiality of genetic information; the challenges to privacy and confidentiality that may be projected to result from the emerging genetic technologies; the role of informed consent in protecting the confidentiality of genetic information in the clinical setting; the potential uses of genetic information by third parties; the implications of changes in the health care delivery system for privacy and confidentiality; relevant national and international developments in public policies, professional standards, and laws; recommendations; and the identification of research needs.

  18. Genetic manipulation in biotechnology

    Energy Technology Data Exchange (ETDEWEB)

    Sherwood, R.; Atkinson, T.

    1981-04-04

    The role of genetic manipulation in opening up new possibilities in biotechnology is discussed and the basic steps in a recombinant DNA experiment are summarized. Some current and future applications of this technology in the fields of medicine, industry and agriculture are presented, including, conversion of wastes to SCP, chemicals and alcohols, plant improvement and the introduction of nitrogen fixation genes into plants as an alternative to the use of nitrogen fertilizers.

  19. Molecular Genetics in Glaucoma

    OpenAIRE

    Liu, Yutao; Allingham, R Rand

    2011-01-01

    Glaucoma is a family of diseases whose pathology is defined by the progressive loss of retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with associated visual field loss. Primary open-angle glaucoma (POAG), chronic angle closure glaucoma (ACG), and exfoliation glaucoma (XFG) are the most prevalent forms of glaucoma globally and are the most common causes of glaucoma-related blindness worldwide. A host of genetic and environmental factors contribute to gl...

  20. Genetics and alcoholism

    OpenAIRE

    Edenberg, Howard J; Foroud, Tatiana

    2013-01-01

    Alcohol is widely consumed, but excessive use creates serious physical, psychological and social problems and contributes to many diseases. Alcoholism (alcohol dependence, alcohol use disorders) is a maladaptive pattern of excessive drinking leading to serious problems. Abundant evidence indicates that alcoholism is a complex genetic disease, with variations in a large number of genes affecting risk. Some of these genes have been identified, including two genes of alcohol me...

  1. Genetics of Diabetes Insipidus.

    Science.gov (United States)

    Schernthaner-Reiter, Marie Helene; Stratakis, Constantine A; Luger, Anton

    2017-06-01

    Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). This article reviews the genetics of diabetes insipidus in the context of its diagnosis, clinical presentation, and therapy. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. The Genetics of Obesity

    OpenAIRE

    Herrera, Blanca M; Lindgren, Cecilia M

    2010-01-01

    Obesity is a result of excess body fat accumulation. This excess is associated with adverse health effects such as CVD, type 2 diabetes, and cancer. The development of obesity has an evident environmental contribution, but as shown by heritability estimates of 40% to 70%, a genetic susceptibility component is also needed. Progress in understanding the etiology has been slow, with findings largely restricted to monogenic, severe forms of obesity. However, technological and analytical advances ...

  3. Genetics of complex diseases.

    Science.gov (United States)

    Motulsky, Arno G

    2006-02-01

    Approaches to the study of the genetic basis of common complex diseases and their clinical applications are considered. Monogenic Mendelian inheritance in such conditions is infrequent but its elucidation may help to detect pathogenic mechanisms in the more common variety of complex diseases. Involvement by multiple genes in complex diseases usually occurs but the isolation and identification of specific genes so far has been exceptional. The role of common polymorphisms as indicators of disease risk in various studies is discussed.

  4. GENETICS OF SPINOCEREBELLAR ATAXIAS

    OpenAIRE

    Hirano, Makito; Ueno, Satoshi

    2004-01-01

    Over the last decade, more than 25 genes responsible for spinocerebellar ataxias (SCAs) have been isolated. This review classifies hereditary SCAs into two groups: autosomal dominant and recessive ataxias, and sunmiarizes the genetic features of these diseases with some clinical characteristics. The unraveling of the molecular cause of a growing number of ataxia has revealed that these diseases are the consequences of a large variety of different mechanisms, even involving novel, unsuspected ...

  5. Genetics of congenital hypothyroidism

    OpenAIRE

    Park, S.; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causin...

  6. Pig ham genetic traceability

    Directory of Open Access Journals (Sweden)

    S. Dall'Olio

    2011-03-01

    Full Text Available Knowing meat product origin is an important factor to assure consumer safety. A definitive method to solve this question is to identify, through molecular genetics analysis, a sample collected from the alive animal and a sample collected on the processed product. The only way to assure the origin of meat and meat products is by the proved identity of both genotypes for each different analyzed loci. Identity test was utilized to achieve individual traceability of meat for cattle......

  7. Algebras in genetics

    CERN Document Server

    Wörz-Busekros, Angelika

    1980-01-01

    The purpose of these notes is to give a rather complete presentation of the mathematical theory of algebras in genetics and to discuss in detail many applications to concrete genetic situations. Historically, the subject has its origin in several papers of Etherington in 1939- 1941. Fundamental contributions have been given by Schafer, Gonshor, Holgate, Reiers¢l, Heuch, and Abraham. At the moment there exist about forty papers in this field, one survey article by Monique Bertrand from 1966 based on four papers of Etherington, a paper by Schafer and Gonshor's first paper. Furthermore Ballonoff in the third section of his book "Genetics and Social Structure" has included four papers by Etherington and Reiers¢l's paper. Apparently a complete review, in par­ ticular one comprising more recent results was lacking, and it was difficult for students to enter this field of research. I started to write these notes in spring 1978. A first german version was finished at the end of that year. Further revision and tran...

  8. Genetics of osteoporosis

    Energy Technology Data Exchange (ETDEWEB)

    Urano, Tomohiko [Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655 (Japan); Inoue, Satoshi, E-mail: INOUE-GER@h.u-tokyo.ac.jp [Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655 (Japan); Department of Anti-Aging Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655 (Japan); Division of Gene Regulation and Signal Transduction, Research Center for Genomic Medicine, Saitama Medical University, Saitama (Japan)

    2014-09-19

    Highlights: • Single-nucleotide polymorphisms (SNPs) associated with osteoporosis were identified. • SNPs mapped close to or within VDR and ESR1 are associated with bone mineral density. • WNT signaling pathway plays a pivotal role in regulating bone mineral density. • Genetic studies will be useful for identification of new therapeutic targets. - Abstract: Osteoporosis is a skeletal disease characterized by low bone mineral density (BMD) and microarchitectural deterioration of bone tissue, which increases susceptibility to fractures. BMD is a complex quantitative trait with normal distribution and seems to be genetically controlled (in 50–90% of the cases), according to studies on twins and families. Over the last 20 years, candidate gene approach and genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNPs) that are associated with low BMD, osteoporosis, and osteoporotic fractures. These SNPs have been mapped close to or within genes including those encoding nuclear receptors and WNT-β-catenin signaling proteins. Understanding the genetics of osteoporosis will help identify novel candidates for diagnostic and therapeutic targets.

  9. Genetics of Congenital Cataract.

    Science.gov (United States)

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  10. Genetics of inherited cardiomyopathy

    Science.gov (United States)

    Jacoby, Daniel; McKenna, William J.

    2012-01-01

    During the past two decades, numerous disease-causing genes for different cardiomyopathies have been identified. These discoveries have led to better understanding of disease pathogenesis and initial steps in the application of mutation analysis in the evaluation of affected individuals and their family members. As knowledge of the genetic abnormalities, and insight into cellular and organ biology has grown, so has appreciation of the level of complexity of interaction between genotype and phenotype across disease states. What were initially thought to be one-to-one gene-disease correlates have turned out to display important relational plasticity dependent in large part on the genetic and environmental backgrounds into which the genes of interest express. The current state of knowledge with regard to genetics of cardiomyopathy represents a starting point to address the biology of disease, but is not yet developed sufficiently to supplant clinically based classification systems or, in most cases, to guide therapy to any significant extent. Future work will of necessity be directed towards elucidation of the biological mechanisms of both rare and common gene variants and environmental determinants of plasticity in the genotype–phenotype relationship with the ultimate goal of furthering our ability to identify, diagnose, risk stratify, and treat this group of disorders which cause heart failure and sudden death in the young. PMID:21810862

  11. Genetic Alterations in Glioma

    Energy Technology Data Exchange (ETDEWEB)

    Bralten, Linda B. C.; French, Pim J., E-mail: p.french@erasmusmc.nl [Department of Neurology, Erasmus University Medical Center, Erasmus University Rotterdam, Dr Molewaterplein 50, 3000 CA, Rotterdam (Netherlands)

    2011-03-07

    Gliomas are the most common type of primary brain tumor and have a dismal prognosis. Understanding the genetic alterations that drive glioma formation and progression may help improve patient prognosis by identification of novel treatment targets. Recently, two major studies have performed in-depth mutation analysis of glioblastomas (the most common and aggressive subtype of glioma). This systematic approach revealed three major pathways that are affected in glioblastomas: The receptor tyrosine kinase signaling pathway, the TP53 pathway and the pRB pathway. Apart from frequent mutations in the IDH1/2 gene, much less is known about the causal genetic changes of grade II and III (anaplastic) gliomas. Exceptions include TP53 mutations and fusion genes involving the BRAF gene in astrocytic and pilocytic glioma subtypes, respectively. In this review, we provide an update on all common events involved in the initiation and/or progression across the different subtypes of glioma and provide future directions for research into the genetic changes.

  12. Genetic bases for glaucoma.

    Science.gov (United States)

    Fuse, Nobuo

    2010-05-01

    Glaucoma is the leading cause of visual impairment and blindness throughout the world. Primary open angle glaucoma (POAG; MIM 137760) is the main type of glaucoma in most populations, and more than 20 genetic loci for POAG have been reported. Only three causative genes have been identified in these loci, viz. myocilin (MYOC), optineurin (OPTN), and WD repeat domain 36 (WDR36). However, mutations in these genes account for only a small percentage of the patients with POAG. Some of these glaucoma cases have a Mendelian inheritance pattern, and a considerable fraction of the cases result from a large number of variants in several genes each contributing small effects. Glaucoma is considered to be a common disease such as diabetes mellitus, coronary disease, Crohn disease, and several( )common cancers. The main technological approaches used to identify the genes associated with glaucoma are the candidate gene approach, linkage analysis, case-control association study, and genome-wide association study. Association studies have found about 27 genes related to POAG, but the glaucoma-causing effects of these genes need to be investigated in more detail. The current trend is to use case-control association studies or genome-wide association studies to map the genes associated with glaucoma. Such studies are expected to greatly advance our understanding of the genetic basis of glaucoma, and to provide information on the effectiveness of glaucoma therapy. This review gives an overview on the genetic aspects of glaucoma.

  13. Genetic Manipulations in Dermatophytes.

    Science.gov (United States)

    Alshahni, Mohamed Mahdi; Yamada, Tsuyoshi

    2017-02-01

    Dermatophytes are a group of closely related fungi that nourish on keratinized materials for their survival. They infect stratum corneum, nails, and hair of human and animals, accounting the largest portion of fungi causing superficial mycoses. Huge populations are suffering from dermatophytoses, though the biology of these fungi is largely unknown yet. Reasons are partially attributed to the poor amenability of dermatophytes to genetic manipulation. However, advancements in this field over the last decade made it possible to conduct genetic studies to satisfying extents. These included genetic transformation methods, indispensable molecular tools, i.e., dominant selectable markers, inducible promoter, and marker recycling system, along with improving homologous recombination frequency and gene silencing. Furthermore, annotated genome sequences of several dermatophytic species have recently been available, ensuring an optimal recruitment of the molecular tools to expand our knowledge on these fungi. In conclusion, the establishment of basic molecular tools and the availability of genomic data will open a new era that might change our understanding on the biology and pathogenicity of this fungal group.

  14. Genetically Modified Organisms

    Directory of Open Access Journals (Sweden)

    Claro Llaguno

    2001-06-01

    Full Text Available Recent reports have brought to public attention concerns about Bt corn and genetically modified organisms (GMO in general. The timing, it seems, is most appropriate considering two related developments early this year: the final approval of the Cartagena Protocol on Biosafety in Montreal on January 29, 2001, and the OECD Edinburgh Conference on GM food safety last February 28- March 1, 2001. The protocol makes clear that GMOs include all living modified organisms (LMO defined as "any living organism that possesses a novel combination of genetic material obtained through the use of modern biotechnology". This includes seeds, live fish, and other organisms intentionally obtained for release to the environment. It would seem that the common understanding about GMOs as referring to farm-to-table products is perforce expanded to embrace genetically modified farm animals and aquatic resources. Being a trade agreement, the Montreal accord primarily deals with the safety issues related to the transboundary movement of LMOs around the globe. The OECD conference on the other hand, called for an international body "to address all sides of the GM debate" in response to the public outcry, particularly in Western Europe, regarding the risks the new products pose to human health and the environment. Some points of contention, which remain unresolved, include issues such as whether countries should be allowed to develop their own GM food based on their needs, and whether a global moratorium on GMOs and mandatory labeling should be enforced worldwide.

  15. Genetic Algorithms and Local Search

    Science.gov (United States)

    Whitley, Darrell

    1996-01-01

    The first part of this presentation is a tutorial level introduction to the principles of genetic search and models of simple genetic algorithms. The second half covers the combination of genetic algorithms with local search methods to produce hybrid genetic algorithms. Hybrid algorithms can be modeled within the existing theoretical framework developed for simple genetic algorithms. An application of a hybrid to geometric model matching is given. The hybrid algorithm yields results that improve on the current state-of-the-art for this problem.

  16. 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

  17. The synthesis paradigm in genetics.

    Science.gov (United States)

    Rice, William R

    2014-02-01

    Experimental genetics with model organisms and mathematically explicit genetic theory are generally considered to be the major paradigms by which progress in genetics is achieved. Here I argue that this view is incomplete and that pivotal advances in genetics--and other fields of biology--are also made by synthesizing disparate threads of extant information rather than generating new information from experiments or formal theory. Because of the explosive expansion of information in numerous "-omics" data banks, and the fragmentation of genetics into numerous subdisciplines, the importance of the synthesis paradigm will likely expand with time.

  18. [Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis

    NARCIS (Netherlands)

    Niermeijer, M.F.; Die-Smulders, C.E.M. de; Page-Christiaens, G.C.; Wert, G.M.W.R. de

    2008-01-01

    Genetic cancer syndromes have identical clinical severity, limited therapeutic options, reduced life expectancy, and risks of genetic transmission, as do other genetic or congenital diseases for which prenatal genetic diagnosis or preimplantation genetic diagnosis (PGD) is allowed in the

  19. [Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis

    NARCIS (Netherlands)

    Niermeijer, M.F.; Die-Smulders, C.E.M. de; Page-Christiaens, G.C.; Wert, G.M.W.R. de

    2008-01-01

    Genetic cancer syndromes have identical clinical severity, limited therapeutic options, reduced life expectancy, and risks of genetic transmission, as do other genetic or congenital diseases for which prenatal genetic diagnosis or preimplantation genetic diagnosis (PGD) is allowed in the Netherlands

  20. What Are the Types of Genetic Tests?

    Science.gov (United States)

    ... paternity). For more information about the uses of genetic testing: A Brief Primer on Genetic Testing , which outlines ... at the Univeristy of Utah. Topics in the Genetic Testing chapter What is genetic testing? What are the ...

  1. Genetic influences on pulmonary function

    DEFF Research Database (Denmark)

    Ingebrigtsen, Truls S; Thomsen, Simon; van der Sluis, Sophie

    2011-01-01

    component sex-limitation models were applied to evaluate possible genetic differences between the sexes for FEV(1), FVC, and PEF. Estimates were adjusted for age, height, and smoking. For FEV(1), additive genetic effects of 61% (95% CI 56-65) were observed. For FVC, the additive genetic contribution was 26......Heritability of forced expiratory volume in one second (FEV(1)), forced vital capacity (FVC), and peak expiratory flow (PEF) has not been previously addressed in large twin studies. We evaluated the genetic contribution to individual differences observed in FEV(1), FVC, and PEF using data from......% (3-49%) and the dominant genetic contribution was 29% (4-54%). For PEF, our models showed an additive genetic contribution of 43% (31-52%) for men, but genetic influences were not significant in women. We found no significant differences between dizygotic same-sex twins and dizygotic opposite...

  2. Genetic Aspects of Nephrotic Syndrome

    DEFF Research Database (Denmark)

    Joshi, Shivani

    SSNS. In Study IV we performed a literature study on published disease causing variants in SRNS and based upon available evidence we developed a practical diagnostic algorithm for genetic evaluation of patients with SRNS. Several gene variants are involved in the pathogenesis of SRNS and genetic...... steroid dependence or become frequent relapsers. Repeated courses of corticosteroid treatment often cause significant associated morbidity. Familial occurrence of SSNS is rare and suggests a potential genetic origin. However, very little data on molecular genetics of familial SSNS is available...... in literature and no causal genes have yet been identified. Genetic aspects of NS bear important implications in therapeutic decisions and genetic counselling in SRNS patients and family members. During the present Ph.D. project we have studied the influence of genetic factors in patients with SRNS and familial...

  3. Integration of molecular genetic technology with quantitative genetic technology for maximizing the speed of genetic improvement

    Institute of Scientific and Technical Information of China (English)

    Jack; C.M.; DEKKERS

    2005-01-01

    To date,most genetic progress for quantita-tive traits in livestock has been made by selec-tion on phenotype or on estimates of breedingvalues(BBV)derived from phenotype,withoutknowledge of the number of genes that affect thetrait or the effects of each gene.In this quantita-tive genetic approach to genetic improvement,the genetic architecture of traits of interest hasessentially been treated as a‘black box’.De-spite this,the substantial rates of genetic im-provement that have been and continue to be a-chie...

  4. Genetics of obesity.

    Science.gov (United States)

    O'Rahilly, Stephen; Farooqi, I Sadaf

    2006-07-29

    Considerable attention is currently being paid to the secular changes in food intake and physical activity that underlie the increase in the prevalence of obesity that is apparent in many societies. While this is laudable it would be unwise to view these environmental factors in isolation from the biological factors that normally control body weight and composition and the compelling evidence that inter-individual differences in susceptibility to obesity have strong genetic determinants. This is particularly important, as it is only in the past decade that we have begun to obtain substantive information regarding the molecular constituents of pathways controlling mammalian energy balance and therefore, for the first time, are in a position to achieve a better mechanistic understanding of this disease. Population-based association and linkage studies have highlighted a number of loci at which genetic variation is associated with obesity and related phenotypes and the identification and characterization of monogenic obesity syndromes has been particularly fruitful. While there is widespread acceptance that hereditary factors might predispose to human obesity, it is frequently assumed that such factors would influence metabolic rate or the selective partitioning of excess calories into fat. However, it is notable that, thus far, all monogenic defects causing human obesity actually disrupt hypothalamic pathways and have a profound effect on satiety and food intake. To conclude, the evidence we have to date suggests that the major impact of genes on human obesity is just as likely (or perhaps more likely) to directly impact on hunger, satiety and food intake rather than metabolic rate or nutrient partitioning. At the risk of oversimplification, it seems that from an aetiological/genetic standpoint, human obesity appears less a metabolic than a neuro-behavioural disease.

  5. A comprehensive review of genetics and genetic testing in azoospermia

    Directory of Open Access Journals (Sweden)

    Alaa J. Hamada

    2013-01-01

    Full Text Available Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic screening tests are performed in azoospermic men, given that their results may play vital role in not only identifying the etiology but also in preventing the iatrogenic transmission of genetic defects to offspring via advanced assisted conception techniques. In the present review, we examine the current genetic information associated with azoospermia based on results from search engines, such as PUBMED, OVID, SCIENCE DIRECT and SCOPUS. We also present a critical appraisal of use of genetic testing in this subset of infertile patients.

  6. A comprehensive review of genetics and genetic testing in azoospermia.

    Science.gov (United States)

    Hamada, Alaa J; Esteves, Sandro C; Agarwal, Ashok

    2013-01-01

    Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic screening tests are performed in azoospermic men, given that their results may play vital role in not only identifying the etiology but also in preventing the iatrogenic transmission of genetic defects to offspring via advanced assisted conception techniques. In the present review, we examine the current genetic information associated with azoospermia based on results from search engines, such as PUBMED, OVID, SCIENCE DIRECT and SCOPUS. We also present a critical appraisal of use of genetic testing in this subset of infertile patients.

  7. A comprehensive review of genetics and genetic testing in azoospermia

    Science.gov (United States)

    Hamada, Alaa J; Esteves, Sandro C; Agarwal, Ashok

    2013-01-01

    Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic screening tests are performed in azoospermic men, given that their results may play vital role in not only identifying the etiology but also in preventing the iatrogenic transmission of genetic defects to offspring via advanced assisted conception techniques. In the present review, we examine the current genetic information associated with azoospermia based on results from search engines, such as PUBMED, OVID, SCIENCE DIRECT and SCOPUS. We also present a critical appraisal of use of genetic testing in this subset of infertile patients. PMID:23503954

  8. Coalgebraic structure of genetic inheritance.

    Science.gov (United States)

    Tian, Jianjun; Li, Bai-Lian

    2004-09-01

    Although in the broadly defined genetic algebra, multiplication suggests a forward direction of from parents to progeny, when looking from the reverse direction, it also suggests to us a new algebraic structure-coalge- braic structure, which we call genetic coalgebras. It is not the dual coalgebraic structure and can be used in the construction of phylogenetic trees. Math- ematically, to construct phylogenetic trees means we need to solve equations x([n]) = a, or x([n]) = b. It is generally impossible to solve these equations inalgebras. However, we can solve them in coalgebras in the sense of tracing back for their ancestors. A thorough exploration of coalgebraic structure in genetics is apparently necessary. Here, we develop a theoretical framework of the coalgebraic structure of genetics. From biological viewpoint, we defined various fundamental concepts and examined their elementary properties that contain genetic significance. Mathematically, by genetic coalgebra, we mean any coalgebra that occurs in genetics. They are generally noncoassociative and without counit; and in the case of non-sex-linked inheritance, they are cocommutative. Each coalgebra with genetic realization has a baric property. We have also discussed the methods to construct new genetic coalgebras, including cocommutative duplication, the tensor product, linear combinations and the skew linear map, which allow us to describe complex genetic traits. We also put forward certain theorems that state the relationship between gametic coalgebra and gametic algebra. By Brower's theorem in topology, we prove the existence of equilibrium state for the in-evolution operator.

  9. Genetic elements of plant viruses as tools for genetic engineering.

    OpenAIRE

    Mushegian, A R; Shepherd, R J

    1995-01-01

    Viruses have developed successful strategies for propagation at the expense of their host cells. Efficient gene expression, genome multiplication, and invasion of the host are enabled by virus-encoded genetic elements, many of which are well characterized. Sequences derived from plant DNA and RNA viruses can be used to control expression of other genes in vivo. The main groups of plant virus genetic elements useful in genetic engineering are reviewed, including the signals for DNA-dependent a...

  10. Genetics and plant development.

    Science.gov (United States)

    Prunet, Nathanaël; Meyerowitz, Elliot M

    2016-01-01

    There are only three grand theories in biology: the theory of the cell, the theory of the gene, and the theory of evolution. Two of these, the cell and gene theories, originated in the study of plants, with the third resulting in part from botanical considerations as well. Mendel's elucidation of the rules of inheritance was a result of his experiments on peas. The rediscovery of Mendel's work in 1900 was by the botanists de Vries, Correns, and Tschermak. It was only in subsequent years that animals were also shown to have segregation of genetic elements in the exact same manner as had been shown in plants. The story of developmental biology is different - while the development of plants has long been studied, the experimental and genetic approaches to developmental mechanism were developed via experiments on animals, and the importance of genes in development (e.g., Waddington, 1940) and their use for understanding developmental mechanisms came to botanical science much later - as late as the 1980s.

  11. Genetics of SCID

    Directory of Open Access Journals (Sweden)

    Cossu Fausto

    2010-11-01

    Full Text Available Abstract Human SCID (Severe Combined Immunodeficiency is a prenatal disorder of T lymphocyte development, that depends on the expression of numerous genes. The knowledge of the genetic basis of SCID is essential for diagnosis (e.g., clinical phenotype, lymphocyte profile and treatment (e.g., use and type of pre-hematopoietic stem cell transplant conditioning. Over the last years novel genetic defects causing SCID have been discovered, and the molecular and immunological mechanisms of SCID have been better characterized. Distinct forms of SCID show both common and peculiar (e.g., absence or presence of nonimmunological features aspects, and they are currently classified into six groups according to prevalent pathophysiological mechanisms: impaired cytokine-mediated signaling; pre-T cell receptor defects; increased lymphocyte apoptosis; defects in thymus embryogenesis; impaired calcium flux; other mechanisms. This review is the updated, extended and largely modified translation of the article "Cossu F: Le basi genetiche delle SCID", originally published in Italian language in the journal "Prospettive in Pediatria" 2009, 156:228-238.

  12. [Genetics of hydatidiform moles].

    Science.gov (United States)

    Brackertz, M

    1983-07-01

    Newer genetic investigations show that the complete or classical hydatidiform mole has in over 90% of the cases a diploid female set of chromosomes which is exclusively of paternal origin. The 23 X sperm genom is doubled and the nucleus of the ovocyte is degenerated. In contradistinction the nucleus of the ovocyte persists in partial moles. The normal ontogenesis is also disturbed by a preponderance of paternal genetic material. By melting of 2 instead of 1 paternal germ cell (Dispermia) the genom of partial moles is to 1/3 of maternal and to 2/3 of paternal origin. The triploid set of chromosomes shows usually 69xxy. Whereas the potential of malignancy of partial moles is low a choriocarcinoma results from 2 to 10% of the complete moles. Responsible maybe recessive hereditary mutations of growth controlling genes, which are present in complete moles in a homozygote form due to the doubling of a single paternal set of chromosomes. Total absence of the growth controlling loci of these genes maternally permits an unhibited expression of the growth controlling paternal genes.

  13. [Genetics of congenital deafness].

    Science.gov (United States)

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  14. Genetic basis of cohesinopathies

    Directory of Open Access Journals (Sweden)

    Barbero JL

    2013-05-01

    Full Text Available José L Barbero Cellular and Molecular Biology Department, Biological Research Center, Madrid, Spain Abstract: Cohesin is a ring-form multifunctional protein complex, which was discovered during a search for molecules that keep sister chromatids together during segregation of chromosomes during cell division. In the past decade, a large number of results have also demonstrated a need for the cohesin complex in other crucial events in the life cycle of the cell, including DNA duplication, heterochromatin formation, DNA double-strand break repair, and control of gene expression. The dynamics of the cohesin ring are modulated by a number of accessory and regulatory proteins, known as cohesin cofactors. Loss of function of the cohesin complex is incompatible with life; however, mutations in the genes encoding for cohesin subunits and/or cohesin cofactors, which have very little or a null effect on chromosome segregation, represent a newly recognized class of human genetic disorders known as cohesinopathies. A number of genetic, biochemical, and clinical approaches, and importantly, animal models, can help us to determine the underlying mechanisms for these human diseases. Keywords: cohesin, cohesinopathies, Cornelia de Lange syndrome, Roberts syndrome, control, gene expression, insulators

  15. Molecular genetics of cataract.

    Directory of Open Access Journals (Sweden)

    Kannabiran Chitra

    2000-01-01

    Full Text Available Studies on hereditary congenital cataracts have led to the identification of genes involved in formation of these cataracts. Knowledge of the structure and function of a particular gene and the effect of disease-associated mutations on its function are providing insights into the mechanisms of cataract. Identification of the disease gene requires both the relevant clinical data as well as genetic data on the entire pedigree in which the disease is found to occur. Genes for hereditary cataract have been mapped by genetic linkage analysis, in which one examines the inheritance pattern of DNA markers throughout the genome in all individuals of the pedigree, and compares those with the inheritance of the disease. Cosegregation of a set of markers with disease implies that the disease gene is present at the same chromosomal location as those markers. The genes so far identified for hereditary cataracts in both humans and animal models encode structural lens proteins, gap junction proteins, membrane proteins and regulatory proteins involved in lens development. Understanding of the mechanisms of hereditary cataract may also help us understand the manner in which environmental and nutritional factors act on the lens to promote opacification.

  16. Genetics of Parkinson Disease

    Science.gov (United States)

    Pankratz, Nathan; Foroud, Tatiana

    2004-01-01

    Summary: Parkinson disease (PD) is the second most common neurodegenerative disorder. Recent studies have consistently demonstrated that in some families, disease is attributable to a mutation in a single gene. To date, genetic analyses have detected linkage to six chromosomal regions and have identified three causative genes: PARK1 (alpha-synuclein), PARK2 (parkin), and PARK7 (DJ-1). In addition, mutations in several other genes have been implicated in familial PD. Identification of the mutations in these genes has led to the recognition that the ubiquitin-proteasome system is an important pathway that may be disrupted in PD. Studies are ongoing to identify additional genes that may contribute to PD susceptibility, particularly in late-onset families without a clear pattern of disease inheritance. With the identification of mutations in particular genes and the likely role of additional genes that are important in PD risk-susceptibility, appropriate protocols must be developed so that accurate and informative genetic counseling can be offered to families in which one or more members has PD. Further diagnostic testing should be delayed until more is learned about the frequency, penetrance, and risk assessment of certain gene mutations. Important lessons can be learned from the implementation of counseling protocols for other neurodegenerative disorders, such as Huntington disease and Alzheimer disease. PMID:15717024

  17. Genetics of Parkinson disease.

    Science.gov (United States)

    Pankratz, Nathan; Foroud, Tatiana

    2004-04-01

    Parkinson disease (PD) is the second most common neurodegenerative disorder. Recent studies have consistently demonstrated that in some families, disease is attributable to a mutation in a single gene. To date, genetic analyses have detected linkage to six chromosomal regions and have identified three causative genes: PARK1 (alpha-synuclein), PARK2 (parkin), and PARK7 (DJ-1). In addition, mutations in several other genes have been implicated in familial PD. Identification of the mutations in these genes has led to the recognition that the ubiquitin-proteasome system is an important pathway that may be disrupted in PD. Studies are ongoing to identify additional genes that may contribute to PD susceptibility, particularly in late-onset families without a clear pattern of disease inheritance. With the identification of mutations in particular genes and the likely role of additional genes that are important in PD risk-susceptibility, appropriate protocols must be developed so that accurate and informative genetic counseling can be offered to families in which one or more members has PD. Further diagnostic testing should be delayed until more is learned about the frequency, penetrance, and risk assessment of certain gene mutations. Important lessons can be learned from the implementation of counseling protocols for other neurodegenerative disorders, such as Huntington disease and Alzheimer disease.

  18. Genetics of Parkinson's disease.

    Science.gov (United States)

    Gasser, Thomas

    2005-08-01

    Parkinson's disease is the second most common neurodegenerative disorder and affects 2% of the population over the age of 60 years. Due to the increasing proportion of elderly individuals in developed countries, Parkinson's disease and related neurodegenerative disorders represent a growing burden on the health care system. In the majority of cases, the cause of the disease is still unknown, and its elucidation remains one of the major challenges of the neurosciences. Recent findings in rare genetic forms of Parkinson's disease have allowed the development of novel animal models, providing a basis for a better understanding of the molecular pathogenesis of the disease, setting the stage for the development of novel treatment strategies. Several novel genes for monogenic forms of Parkinson's disease, such as PINK-1 for an autosomal-recessive early-onset variant, and LRRK2 for a relatively common late-onset autosomal-dominant form have recently been discovered, and several novel animal models have been generated on the basis of genes that had been found earlier. The combination of genetic, pathologic and molecular findings provide increasing evidence that the pathways identified through the cloning of different disease genes are interacting on different levels and share several major pathogenic mechanisms.

  19. Genetics of COPD

    Directory of Open Access Journals (Sweden)

    Hidetoshi Nakamura

    2011-01-01

    Full Text Available Previous family studies suggested that genetic variation contributes to COPD susceptibility. The only gene proven to influence COPD susceptibility is SERPINA1, encoding α1-antitrypsin. Most studies on COPD candidate genes except SERPINA1, have not been consistently replicated. However, longitudinal studies of decline in lung function, meta-analyses of candidate gene studies, and family-based linkage analyses suggested that variants in EPHX1, GST, MMP12, TGFB1, and SERPINE2 were associated with susceptibility to COPD. A genome-wide association (GWA study has recently demonstrated that CHRNA3/5 in 15q25 was associated with COPD compared with control smokers. It was of interest that the CHRNA3/5 locus was associated with nicotine dependence and lung cancer as well. The associations of HHIP on 4q31 and FAM13A on 4q22 with COPD were also suggested in GWA studies. Another GWA study has shown that BICD1 in 12p11 was associated with the presence or absence of emphysema. Although every genetic study on COPD has some limitations including heterogeneity in smoking behaviors and comorbidities, it has contributed to the progress in elucidating the pathogenesis of COPD. Future studies will make us understand the mechanisms underlying the polygenic disease, leading to the development of a specific treatment for each phenotype.

  20. Genetic circuit design automation.

    Science.gov (United States)

    Nielsen, Alec A K; Der, Bryan S; Shin, Jonghyeon; Vaidyanathan, Prashant; Paralanov, Vanya; Strychalski, Elizabeth A; Ross, David; Densmore, Douglas; Voigt, Christopher A

    2016-04-01

    Computation can be performed in living cells by DNA-encoded circuits that process sensory information and control biological functions. Their construction is time-intensive, requiring manual part assembly and balancing of regulator expression. We describe a design environment, Cello, in which a user writes Verilog code that is automatically transformed into a DNA sequence. Algorithms build a circuit diagram, assign and connect gates, and simulate performance. Reliable circuit design requires the insulation of gates from genetic context, so that they function identically when used in different circuits. We used Cello to design 60 circuits forEscherichia coli(880,000 base pairs of DNA), for which each DNA sequence was built as predicted by the software with no additional tuning. Of these, 45 circuits performed correctly in every output state (up to 10 regulators and 55 parts), and across all circuits 92% of the output states functioned as predicted. Design automation simplifies the incorporation of genetic circuits into biotechnology projects that require decision-making, control, sensing, or spatial organization.

  1. The Genetics of Osteosarcoma

    Directory of Open Access Journals (Sweden)

    Jeff W. Martin

    2012-01-01

    Full Text Available Osteosarcoma is a primary bone malignancy with a particularly high incidence rate in children and adolescents relative to other age groups. The etiology of this often aggressive cancer is currently unknown, because complicated structural and numeric genomic rearrangements in cancer cells preclude understanding of tumour development. In addition, few consistent genetic changes that may indicate effective molecular therapeutic targets have been reported. However, high-resolution techniques continue to improve knowledge of distinct areas of the genome that are more commonly associated with osteosarcomas. Copy number gains at chromosomes 1p, 1q, 6p, 8q, and 17p as well as copy number losses at chromosomes 3q, 6q, 9, 10, 13, 17p, and 18q have been detected by numerous groups, but definitive oncogenes or tumour suppressor genes remain elusive with respect to many loci. In this paper, we examine studies of the genetics of osteosarcoma to comprehensively describe the heterogeneity and complexity of this cancer.

  2. Genetic biomarkers in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Coats, Caroline J; Elliott, Perry M

    2013-08-01

    Hypertrophic cardiomyopathy is a common inherited heart muscle disorder associated with sudden cardiac death, arrhythmias and heart failure. Genetic mutations can be identified in approximately 60% of patients; these are commonest in genes that encode proteins of the cardiac sarcomere. Similar to other Mendelian diseases these mutations are characterized by incomplete penetrance and variable clinical expression. Our knowledge of this genetic diversity is rapidly evolving as high-throughput DNA sequencing technology is now used to characterize an individual patient's disease. In addition, the genomic basis of several multisystem diseases associated with a hypertrophic cardiomyopathy phenotype has been elucidated. Genetic biomarkers can be helpful in making an accurate diagnosis and in identifying relatives at risk of developing the condition. In the clinical setting, genetic testing and genetic screening should be used pragmatically with appropriate counseling. Here we review the current role of genetic biomarkers in hypertrophic cardiomyopathy, highlight recent progress in the field and discuss future challenges.

  3. Genetic manipulation of Francisella tularensis

    Directory of Open Access Journals (Sweden)

    Xhavit eZogaj

    2011-01-01

    Full Text Available Francisella tularensis is a facultative intracellular pathogen that causes the disease tularemia. F. tularensis subsp. tularensis causes the most severe disease in humans and has been classified as a select A agent and potential bioweapon. There is currently no vaccine approved for human use, making genetic manipulation of this organism critical to unraveling the genetic basis of pathogenesis and developing countermeasures against tularemia. The development of genetic techniques applicable to F. tularensis have lagged behind those routinely used for other bacteria, primarily due to lack of research and the restricted nature of the biocontainment required for studying this pathogen. However, in recent years, genetic techniques, such as transposon mutagenesis and targeted gene disruption, have been developed, that have had a dramatic impact on our understanding of the genetic basis of F. tularensis virulence. In this review, we describe some of the methods developed for genetic manipulation of F. tularensis.

  4. Genetic specificity of face recognition.

    Science.gov (United States)

    Shakeshaft, Nicholas G; Plomin, Robert

    2015-10-13

    Specific cognitive abilities in diverse domains are typically found to be highly heritable and substantially correlated with general cognitive ability (g), both phenotypically and genetically. Recent twin studies have found the ability to memorize and recognize faces to be an exception, being similarly heritable but phenotypically substantially uncorrelated both with g and with general object recognition. However, the genetic relationships between face recognition and other abilities (the extent to which they share a common genetic etiology) cannot be determined from phenotypic associations. In this, to our knowledge, first study of the genetic associations between face recognition and other domains, 2,000 18- and 19-year-old United Kingdom twins completed tests assessing their face recognition, object recognition, and general cognitive abilities. Results confirmed the substantial heritability of face recognition (61%), and multivariate genetic analyses found that most of this genetic influence is unique and not shared with other cognitive abilities.

  5. Identical twins in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Morling, Niels

    2015-01-01

    The increase in the number of forensic genetic loci used for identification purposes results in infinitesimal random match probabilities. These probabilities are computed under assumptions made for rather simple population genetic models. Often, the forensic expert reports likelihood ratios, where...... published results accounting for close familial relationships. However, we revisit the discussion to increase the awareness among forensic genetic practitioners and include new information on medical and societal factors to assess the risk of not considering a monozygotic twin as the true perpetrator...

  6. Graphical models for genetic analyses

    DEFF Research Database (Denmark)

    Lauritzen, Steffen Lilholt; Sheehan, Nuala A.

    2003-01-01

    This paper introduces graphical models as a natural environment in which to formulate and solve problems in genetics and related areas. Particular emphasis is given to the relationships among various local computation algorithms which have been developed within the hitherto mostly separate areas...... of graphical models and genetics. The potential of graphical models is explored and illustrated through a number of example applications where the genetic element is substantial or dominating....

  7. Genetics of schizophrenia: recent advances.

    Science.gov (United States)

    Eisener, Amy; Pato, Michele T; Medeiros, Helena; Carvalho, Celia; Pato, Carlos N

    2007-01-01

    Genetic studies of schizophrenia have been fraught with challenges, yet molecular genetic and genomic methods remain essential to the discovery of the underlying biological mechanisms. Candidate genes and genome scan studies have played a significant role in the search for susceptibility loci. Studies in genetic isolates appear to be providing some of the most consistent results. These populations are characterized by a greater degree of homogeneity, which is hoped to be advantageous in the identification of genes contributing to the disease phenotype. The following review highlights some recent advances in schizophrenia research, with a focus on disease etiology, candidate genes, genome scan studies, and molecular genetic approaches.

  8. Statistical methods in spatial genetics

    DEFF Research Database (Denmark)

    Guillot, Gilles; Leblois, Raphael; Coulon, Aurelie

    2009-01-01

    The joint analysis of spatial and genetic data is rapidly becoming the norm in population genetics. More and more studies explicitly describe and quantify the spatial organization of genetic variation and try to relate it to underlying ecological processes. As it has become increasingly difficult...... to keep abreast with the latest methodological developments, we review the statistical toolbox available to analyse population genetic data in a spatially explicit framework. We mostly focus on statistical concepts but also discuss practical aspects of the analytical methods, highlighting not only...

  9. [The genetics of spinocerebellar ataxias].

    Science.gov (United States)

    Jacobi, H; Minnerop, M; Klockgether, T

    2013-02-01

    Spinocerebellar ataxias are genetically heterogeneous autosomal dominant ataxia disorders. To date more than 30 different subtypes are known. In Germany particularly SCA1, SCA2, SCA3 and SCA6 are prevalent, as well as the less frequent subtypes SCA5, SCA14, SCA15, SCA17 and SCA28. Genetic causes range from coding repeat expansions (polyglutamine diseases), to non-coding expansions as well as conventional mutations. In some subtypes the genetic background is currently unknown. Age of onset, typical clinical findings and geographic distribution may help to reach a correct diagnosis; however a definitive diagnosis requires molecular genetic testing.

  10. Genetics of obesity.

    Science.gov (United States)

    Clement, Karine; Boutin, Philippe; Froguel, Philippe

    2002-01-01

    Obesity is a typical common multifactorial disease in which environmental and genetic factors interact. In rare cases of severe obesity with childhood onset, a single gene has a major effect in determining the occurrence of obesity, with the environment having only a permissive role in the severity of the phenotype. Exceptional mutations of the leptin gene and its receptor, pro-opiomelanocortine (POMC), prohormone convertase 1 (PC1) and more frequently, mutations in the melanocortin receptor 4 (1 to 4% of very obese cases) have been described. All these obesity genes encode proteins that are strongly connected as part of the same loop of the regulation of food intake. They all involve the leptin axis and one of its hypothalamic targets; the melanocortin pathway. Pathways of bodyweight regulation involved in monogenic forms of obesity might represent targets for future drug development. Successful leptin protein replacement in a leptin-deficient child has contributed to the validation of the usefulness of gene screening in humans. However, the individual variability in response to leptin treatment might be related to genetic variability. The efficiency of leptin itself or of small-molecule agonists of the leptin receptor should be studied in relation with genetic variations in the leptin gene promoter. The most common forms of obesity are polygenic. Two general approaches have been used to date in the search for genes underlying common polygenic obesity in humans. The first approach focuses on selected genes having some plausible role in obesity on the basis of their known or presumed biological role. This approach yielded putative susceptibility genes with only small or uncertain effects. The second approach attempts to map genes purely by position and requires no presumptions on the function of genes. Genome-wide scans identify chromosomal regions showing linkage with obesity in large collections of nuclear families. Genome-wide scans in different ethnic

  11. Acute Myeloid Leukemia - Genetics Home Reference [Genetics Home Reference (Conditions)

    Lifescience Database Archive (English)

    Full Text Available Conditions Genes Chromosomes Handbook Glossary Resources Conditions > Acute Myeloid...te myeloid leukemia with mutated CEBPA Fanconi anemia You may also search Genetics Home Reference for Acut...e Myeloid Leukemia for additional information. Published : October 27, 2014 Acute Myeloid Leukemia - Genetics Home Reference ...

  12. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics

    Science.gov (United States)

    Burian, Richard M.

    2013-01-01

    This paper addresses the teaching of advanced high school courses or undergraduate courses for non-biology majors about genetics or history of genetics. It will probably be difficult to take the approach described here in a high school science course, although the general approach could help improve such courses. It would be ideal for a college…

  13. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics

    Science.gov (United States)

    Burian, Richard M.

    2013-01-01

    This paper addresses the teaching of advanced high school courses or undergraduate courses for non-biology majors about genetics or history of genetics. It will probably be difficult to take the approach described here in a high school science course, although the general approach could help improve such courses. It would be ideal for a college…

  14. The Genetics of Obesity

    Science.gov (United States)

    Herrera, Blanca M.

    2010-01-01

    Obesity is a result of excess body fat accumulation. This excess is associated with adverse health effects such as CVD, type 2 diabetes, and cancer. The development of obesity has an evident environmental contribution, but as shown by heritability estimates of 40% to 70%, a genetic susceptibility component is also needed. Progress in understanding the etiology has been slow, with findings largely restricted to monogenic, severe forms of obesity. However, technological and analytical advances have enabled detection of more than 20 obesity susceptibility loci. These contain genes suggested to be involved in the regulation of food intake through action in the central nervous system as well as in adipocyte function. These results provide plausible biological pathways that may, in the future, be targeted as part of treatment or prevention strategies. Although the proportion of heritability explained by these genes is small, their detection heralds a new phase in understanding the etiology of common obesity. PMID:20931363

  15. Genetic algorithm essentials

    CERN Document Server

    Kramer, Oliver

    2017-01-01

    This book introduces readers to genetic algorithms (GAs) with an emphasis on making the concepts, algorithms, and applications discussed as easy to understand as possible. Further, it avoids a great deal of formalisms and thus opens the subject to a broader audience in comparison to manuscripts overloaded by notations and equations. The book is divided into three parts, the first of which provides an introduction to GAs, starting with basic concepts like evolutionary operators and continuing with an overview of strategies for tuning and controlling parameters. In turn, the second part focuses on solution space variants like multimodal, constrained, and multi-objective solution spaces. Lastly, the third part briefly introduces theoretical tools for GAs, the intersections and hybridizations with machine learning, and highlights selected promising applications.

  16. Amplifying genetic logic gates.

    Science.gov (United States)

    Bonnet, Jerome; Yin, Peter; Ortiz, Monica E; Subsoontorn, Pakpoom; Endy, Drew

    2013-05-03

    Organisms must process information encoded via developmental and environmental signals to survive and reproduce. Researchers have also engineered synthetic genetic logic to realize simpler, independent control of biological processes. We developed a three-terminal device architecture, termed the transcriptor, that uses bacteriophage serine integrases to control the flow of RNA polymerase along DNA. Integrase-mediated inversion or deletion of DNA encoding transcription terminators or a promoter modulates transcription rates. We realized permanent amplifying AND, NAND, OR, XOR, NOR, and XNOR gates actuated across common control signal ranges and sequential logic supporting autonomous cell-cell communication of DNA encoding distinct logic-gate states. The single-layer digital logic architecture developed here enables engineering of amplifying logic gates to control transcription rates within and across diverse organisms.

  17. Genetics of Childhood Obesity

    Directory of Open Access Journals (Sweden)

    Jianhua Zhao

    2011-01-01

    Full Text Available Obesity is a major health problem and an immense economic burden on the health care systems both in the United States and the rest of the world. The prevalence of obesity in children and adults in the United States has increased dramatically over the past decade. Besides environmental factors, genetic factors are known to play an important role in the pathogenesis of obesity. Genome-wide association studies (GWAS have revealed strongly associated genomic variants associated with most common disorders; indeed there is general consensus on these findings from generally positive replication outcomes by independent groups. To date, there have been only a few GWAS-related reports for childhood obesity specifically, with studies primarily uncovering loci in the adult setting instead. It is clear that a number of loci previously reported from GWAS analyses of adult BMI and/or obesity also play a role in childhood obesity.

  18. Genetics of Parkinson disease.

    Science.gov (United States)

    Pankratz, Nathan; Foroud, Tatiana

    2007-12-01

    During the past decade five genes have been identified that are important in autosomal dominant and autosomal recessive forms of Parkinson disease. The identification of these genes has increased our understanding of the likely pathogenic mechanisms resulting in disease. However, mutations in these genes likely contribute to disease in fewer than 5% of all cases of Parkinson disease. Thus, researchers have continued to search for genes that may influence disease susceptibility. Molecular diagnostic testing is currently available for four of the genes mutated in Parkinson disease. Evidence for reduced penetrance, possible effects of haploinsufficiency, and the identification of nondisease causing polymorphisms within several of these genes has made genetic counseling challenging. Current recommendations are to limit molecular testing only to those individuals who are symptomatic. Furthermore, because treatment is unaltered by the presence or absence of mutations in these genes, restraint is recommended when considering the value of screening for mutations in a clinical setting.

  19. The genetics of obesity.

    Science.gov (United States)

    Herrera, Blanca M; Lindgren, Cecilia M

    2010-12-01

    Obesity is a result of excess body fat accumulation. This excess is associated with adverse health effects such as CVD, type 2 diabetes, and cancer. The development of obesity has an evident environmental contribution, but as shown by heritability estimates of 40% to 70%, a genetic susceptibility component is also needed. Progress in understanding the etiology has been slow, with findings largely restricted to monogenic, severe forms of obesity. However, technological and analytical advances have enabled detection of more than 20 obesity susceptibility loci. These contain genes suggested to be involved in the regulation of food intake through action in the central nervous system as well as in adipocyte function. These results provide plausible biological pathways that may, in the future, be targeted as part of treatment or prevention strategies. Although the proportion of heritability explained by these genes is small, their detection heralds a new phase in understanding the etiology of common obesity.

  20. Genetically modified bacteriophages.

    Science.gov (United States)

    Sagona, Antonia P; Grigonyte, Aurelija M; MacDonald, Paul R; Jaramillo, Alfonso

    2016-04-18

    Phages or bacteriophages, viruses that infect and replicate inside bacteria, are the most abundant microorganisms on earth. The realization that antibiotic resistance poses a substantial risk to the world's health and global economy is revitalizing phage therapy as a potential solution. The increasing ease by which phage genomes can be modified, owing to the influx of new technologies, has led to an expansion of their natural capabilities, and a reduced dependence on phage isolation from environmental sources. This review will discuss the way synthetic biology has accelerated the construction of genetically modified phages and will describe the wide range of their applications. It will further provide insight into the societal and economic benefits that derive from the use of recombinant phages in various sectors, from health to biodetection, biocontrol and the food industry.

  1. Introduction to genetics and genomics in asthma: genetics of asthma.

    Science.gov (United States)

    Mathias, Rasika Ann

    2014-01-01

    While asthma is a heterogeneous disease, a strong genetic basis has been firmly established. Rather than being a single disease entity, asthma consists of related, overlapping syndromes [Barnes (Proc Am Thor Soc 8:143-148, 2011)] including three general domains: variable airway obstruction, airway hyper-responsiveness, and airway inflammation with a considerable proportion, but not all, of asthma being IgE-mediated further adding to its heterogeneity. This chapter reviews the approaches to the elucidation of genetics of asthma from the early evidence of familial clustering to the current state of knowledge with genome-wide approaches. The conclusion is that research efforts have led to a tremendous repository of genetic determinants of asthma, most of which fall into the above phenotypic domains of the syndrome. We now look to future integrative approaches of genetics, genomics (Chap. 10), and epigenetics (Chap. 11) to better understand the causal mechanism through which, these genetic loci act in manifesting asthma.

  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. Genetics of Melanoma

    Directory of Open Access Journals (Sweden)

    Janet eWangari-Talbot

    2013-01-01

    Full Text Available Genomic variation is a trend observed in various human diseases including cancer. Genetic studies have set out to understand how and why these variations result in cancer, why some populations are predisposed to the disease, and also how genetics affect drug responses. The melanoma incidence has been increasing at an alarming rate worldwide. The burden posed by melanoma has made it a necessity to understand the fundamental signaling pathways involved in this deadly disease. Signaling cascades such as MAPK and PI3K/AKT have been shown to be crucial in the regulation of processes that are commonly dysregulated during cancer development such as aberrant proliferation, loss of cell cycle control, impaired apoptosis and altered drug metabolism. Understanding how these and other oncogenic pathways are regulated has been integral in our challenge to develop potent anti-melanoma drugs. With advances in technology and especially in next generation sequencing, we have been able to explore melanoma genomes and exomes leading to the identification of previously unknown genes with functions in melanomagenesis such as GRIN2A and PREX2. The therapeutic potential of these novel candidate genes is actively being pursued with some presenting as druggable targets while others serve as indicators of therapeutic responses. In addition, the analysis of the mutational signatures of melanoma tumors continues to cement the causative role of UV exposure in melanoma pathogenesis. It has become distinctly clear that melanomas from sun exposed skin areas have distinct mutational signatures including C to T transitions indicative of UV-induced damage. It is thus necessary to continue spreading awareness on how to decrease the risk factors of developing the disease while at the same time working for a cure. Given the large amount of information gained from these sequencing studies, it is likely that in the future, treatment of melanoma will follow a highly personalized route

  4. Genetics of autoimmune diseases: insights from population genetics.

    Science.gov (United States)

    Ramos, Paula S; Shedlock, Andrew M; Langefeld, Carl D

    2015-11-01

    Human genetic diversity is the result of population genetic forces. This genetic variation influences disease risk and contributes to health disparities. Autoimmune diseases (ADs) are a family of complex heterogeneous disorders with similar underlying mechanisms characterized by immune responses against self. Collectively, ADs are common, exhibit gender and ethnic disparities, and increasing incidence. As natural selection is an important influence on human genetic variation, and immune function genes are enriched for signals of positive selection, it is thought that the prevalence of AD risk alleles seen in different population is partially the result of differing selective pressures (for example, due to pathogens). With the advent of high-throughput technologies, new analytical methodologies and large-scale projects, evidence for the role of natural selection in contributing to the heritable component of ADs keeps growing. This review summarizes the genetic regions associated with susceptibility to different ADs and concomitant evidence for selection, including known agents of selection exerting selective pressure in these regions. Examples of specific adaptive variants with phenotypic effects are included as an evidence of natural selection increasing AD susceptibility. Many of the complexities of gene effects in different ADs can be explained by population genetics phenomena. Integrating AD susceptibility studies with population genetics to investigate how natural selection has contributed to genetic variation that influences disease risk will help to identify functional variants and elucidate biological mechanisms. As such, the study of population genetics in human population holds untapped potential for elucidating the genetic causes of human disease and more rapidly focusing to personalized medicine.

  5. Plant Genetic Resources: Selected Issues from Genetic Erosion to Genetic Engineering

    Directory of Open Access Journals (Sweden)

    Karl Hammer

    2008-04-01

    Full Text Available Plant Genetic Resources (PGR continue to play an important role in the development of agriculture. The following aspects receive a special consideration:1. Definition. The term was coined in 1970. The genepool concept served as an important tool in the further development. Different approaches are discussed.2. Values of Genetic Resources. A short introduction is highlighting this problem and stressing the economic usfulness of PGR.3. Genetic Erosion. Already observed by E. Baur in 1914, this is now a key issue within PGR. The case studies cited include Ethiopia, Italy, China, S Korea, Greece and S. Africa. Modern approaches concentrate on allelic changes in varieties over time but neglect the landraces. The causes and consequences of genetic erosion are discussed.4. Genetic Resources Conservation. Because of genetic erosion there is a need for conservation. PGR should be consigned to the appropriate method of conservation (ex situ, in situ, on-farm according to the scientific basis of biodiversity (genetic diversity, species diversity, ecosystem diversity and the evolutionary status of plants (cultivated plants, weeds, related wild plants (crop wild relatives.5. GMO. The impact of genetically engineered plants on genetic diversity is discussed.6. The Conclusions and Recommendations stress the importance of PGR. Their conservation and use are urgent necessities for the present development and future survival of mankind.

  6. Genetical Genomics for Evolutionary Studies

    NARCIS (Netherlands)

    Prins, J.C.P.; Smant, G.; Jansen, R.C.

    2012-01-01

    enetical genomics combines acquired high-throughput genomic data with genetic analysis. In this chapter, we discuss the application of genetical genomics for evolutionary studies, where new high-throughput molecular technologies are combined with mapping quantitative trait loci (QTL) on the genome

  7. Genetics Home Reference: warfarin resistance

    Science.gov (United States)

    ... the VKORC1 enzyme, the result is complete warfarin resistance . While changes in specific genes affect how the body reacts ... conditions diagnosed? How are genetic conditions treated or managed? What is genetic testing? How can ... coumarin resistance poor metabolism of coumarin Related Information How are ...

  8. Genetic engineering of microbial pesticides

    Science.gov (United States)

    Bruce C. Carlton

    1985-01-01

    Recent advances in genetics and molecular biology make possible the cloning and genetic manipulation of genes for insecticidal activities from natural insect pathogens. Using recombinant DNA methods and site-directed mutagenesis of specific gene regions, production of new and improved biorationals should be possible.

  9. Defining asthma in genetic studies

    NARCIS (Netherlands)

    Koppelman, GH; Postma, DS; Meijer, G.

    1999-01-01

    Genetic studies have been hampered by the lack of a gold standard to diagnose asthma. The complex nature of asthma makes it more difficult to identify asthma genes. Therefore, approaches to define phenotypes, which have been successful in other genetically complex diseases, may be applied to define

  10. Genetic testing in cardiovascular diseases.

    Science.gov (United States)

    Arndt, Anne-Karin; MacRae, Calum A

    2014-05-01

    The review is designed to outline the major developments in genetic testing in the cardiovascular arena in the past year or so. This is an exciting time in genetic testing as whole exome and whole genome approaches finally reach the clinic. These new approaches offer insight into disease causation in families in which this might previously have been inaccessible, and also bring a wide range of interpretative challenges. Among the most significant recent findings has been the extent of physiologic rare coding variation in the human genome. New disease genes have been identified through whole exome studies in neonatal arrhythmia, congenital heart disease and coronary artery disease that were simply inaccessible with other techniques. This has not only shed light on the challenges of genetic testing at this scale, but has also sharply defined the limits of prior gene-panel focused testing. As novel therapies targeting specific genetic subsets of disease become available, genetic testing will become a part of routine clinical care. The pace of change in sequencing technologies has begun to transform clinical medicine, and cardiovascular disease is no exception. The complexity of such studies emphasizes the importance of real-time communication between the genetics laboratory and genetically informed clinicians. New efforts in data and knowledge management will be central to the continued advancement of genetic testing.

  11. Genetic basis of chronic pancreatitis

    NARCIS (Netherlands)

    Jansen, JBMJ; Morsche, RT; van Goor, Harry; Drenth, JPH

    2002-01-01

    Background: Pancreatitis has a proven genetic basis in a minority of patients. Methods: Review of the literature on genetics of pancreatitis. Results: Ever since the discovery that in most patients with hereditary pancreatitis a mutation in the gene encoding for cationic trypsinogen (R122H) was

  12. Genetic determinants of facial clefting

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2009-01-01

    BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark...

  13. Genetic basis of chronic pancreatitis

    NARCIS (Netherlands)

    Jansen, JBMJ; Morsche, RT; van Goor, Harry; Drenth, JPH

    2002-01-01

    Background: Pancreatitis has a proven genetic basis in a minority of patients. Methods: Review of the literature on genetics of pancreatitis. Results: Ever since the discovery that in most patients with hereditary pancreatitis a mutation in the gene encoding for cationic trypsinogen (R122H) was foun

  14. Dissecting the Genetics of Stroke

    NARCIS (Netherlands)

    M.J.E. van Rijn (Marie Josee)

    2007-01-01

    textabstractStroke is a leading cause of death and disability in the Western world. It is a complex disease resulting from environmental factors and genetic factors, as well as gene-gene and geneenvironment interactions. Many studies have attempted to unravel the genetic aetiology of stroke, but

  15. Defining asthma in genetic studies

    NARCIS (Netherlands)

    Koppelman, GH; Postma, DS; Meijer, G.

    1999-01-01

    Genetic studies have been hampered by the lack of a gold standard to diagnose asthma. The complex nature of asthma makes it more difficult to identify asthma genes. Therefore, approaches to define phenotypes, which have been successful in other genetically complex diseases, may be applied to define

  16. Combining microarrays and genetic analysis

    NARCIS (Netherlands)

    Alberts, Rudi; Fu, Jingyuan; Swertz, Morris A.; Lubbers, L. Alrik; Albers, Casper J.; Jansen, Ritsert C.

    2005-01-01

    Gene expression can be studied at a genome-wide scale with the aid of modern microarray technologies. Expression profiling of tens to hundreds of individuals in a genetic population can reveal the consequences of genetic variation. In this paper it is argued that the design and analysis of such a

  17. Genetics Home Reference: Bloom syndrome

    Science.gov (United States)

    ... are of Central and Eastern European (Ashkenazi) Jewish background. Related Information What information about a genetic condition can statistics ... Genetic Testing Registry: Bloom syndrome Other Diagnosis and Management Resources (2 ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy ...

  18. Genetically modified foods and allergy.

    Science.gov (United States)

    Lee, T H; Ho, H K; Leung, T F

    2017-06-01

    2015 marked the 25th anniversary of the commercial use and availability of genetically modified crops. The area of planted biotech crops cultivated globally occupies a cumulative two billion hectares, equivalent to twice the land size of China or the United States. Foods derived from genetically modified plants are widely consumed in many countries and genetically modified soybean protein is extensively used in processed foods throughout the industrialised countries. Genetically modified food technology offers a possible solution to meet current and future challenges in food and medicine. Yet there is a strong undercurrent of anxiety that genetically modified foods are unsafe for human consumption, sometimes fuelled by criticisms based on little or no firm evidence. This has resulted in some countries turning away food destined for famine relief because of the perceived health risks of genetically modified foods. The major concerns include their possible allergenicity and toxicity despite the vigorous testing of genetically modified foods prior to marketing approval. It is imperative that scientists engage the public in a constructive evidence-based dialogue to address these concerns. At the same time, improved validated ways to test the safety of new foods should be developed. A post-launch strategy should be established routinely to allay concerns. Mandatory labelling of genetically modified ingredients should be adopted for the sake of transparency. Such ingredient listing and information facilitate tracing and recall if required.

  19. Genetics in juvenile idiopathic arthritis

    NARCIS (Netherlands)

    Albers, Heleen Marion

    2015-01-01

    Juvenile idiopathic arthritis (JIA) is a non-common disease in children that can persist into adulthood. JIA is considered to be an auto-immune disease. Genetic factors play a role in the pathogenesis. In a new cohort of JIA patients from North-West European descent genetic candidate gene associatio

  20. Landscape genetics and limiting factors

    Science.gov (United States)

    Samuel A. Cushman; Andrew J. Shirk; Erin L. Landguth

    2013-01-01

    Population connectivity is mediated by the movement of organisms or propagules through landscapes. However, little is known about how variation in the pattern of landscape mosaics affects the detectability of landscape genetic relationships. The goal of this paper is to explore the impacts of limiting factors on landscape genetic processes using simulation...

  1. Next-generation human genetics

    OpenAIRE

    Shendure, Jay

    2011-01-01

    The field of human genetics is being reshaped by exome and genome sequencing. Several lessons are evident from observing the rapid development of this area over the past 2 years, and these may be instructive with respect to what we should expect from 'next-generation human genetics' in the next few years.

  2. Medical Genetics Is Not Eugenics

    Science.gov (United States)

    Cowan, Ruth Schwartz

    2008-01-01

    The connection that critics make between medical genetics and eugenics is historically fallacious. Activists on the political right are as mistaken as activists on the political left: Genetic screening was not eugenics in the past, is not eugenics in the present, and, unless its technological systems become radically transformed, will not be…

  3. Combining microarrays and genetic analysis

    NARCIS (Netherlands)

    Alberts, Rudi; Fu, Jingyuan; Swertz, Morris A.; Lubbers, L. Alrik; Albers, Casper J.; Jansen, Ritsert C.

    2005-01-01

    Gene expression can be studied at a genome-wide scale with the aid of modern microarray technologies. Expression profiling of tens to hundreds of individuals in a genetic population can reveal the consequences of genetic variation. In this paper it is argued that the design and analysis of such a st

  4. Classical and molecular genetic mapping

    Science.gov (United States)

    A brief history of classical genetic mapping in soybean [Glycine max (L.) Merr.] is described. Detailed descriptions are given of the development of molecular genetic linkage maps based upon various types of DNA markers Like many plant and animal species, the first molecular map of soybean was bas...

  5. Genetic Mapping in Human Disease

    OpenAIRE

    Altshuler, David; Daly, Mark J; Lander, Eric S.

    2008-01-01

    Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the intellectual foundations of genetic mapping of Mendelian and complex traits in humans, examine lessons emerging from linkage analysis of Mendelian diseases and genome-wide association studies of common diseases, and discuss questions and challenges that lie ahead.

  6. 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…

  7. Genetics of Osteoporosis in Children.

    Science.gov (United States)

    van Dijk, Fleur S

    2015-01-01

    In the pathogenesis of paediatric osteoporosis, genetic causes may play an important role. The most prevalent monogenic cause of paediatric osteoporosis is osteogenesis imperfecta, a disorder characterised primarily by liability to fractures. With regard to diagnosis or exclusion of a monogenic cause of paediatric osteoporosis, clinical practice has changed rapidly in recent years. This is largely due to the discovery of many new genetic causes in patients with a clear clinical diagnosis of osteogenesis imperfecta but also due to the identification of genetic causes in patients with isolated or non-syndromal osteoporosis with fractures. In this chapter, known monogenic causes of syndromal and non-syndromal osteoporosis in children will be described. Furthermore, we will discuss when to refer for clinical genetic evaluation as well as the current and future merits of genetic evaluation of children with osteoporosis. © 2015 S. Karger AG, Basel.

  8. Genetic disorders producing compressive radiculopathy.

    Science.gov (United States)

    Corey, Joseph M

    2006-11-01

    Back pain is a frequent complaint seen in neurological practice. In evaluating back pain, neurologists are asked to evaluate patients for radiculopathy, determine whether they may benefit from surgery, and help guide management. Although disc herniation is the most common etiology of compressive radiculopathy, there are many other causes, including genetic disorders. This article is a discussion of genetic disorders that cause or contribute to radiculopathies. These genetic disorders include neurofibromatosis, Paget's disease of bone, and ankylosing spondylitis. Numerous genetic disorders can also lead to deformities of the spine, including spinal muscular atrophy, Friedreich's ataxia, Charcot-Marie-Tooth disease, familial dysautonomia, idiopathic torsional dystonia, Marfan's syndrome, and Ehlers-Danlos syndrome. However, the extent of radiculopathy caused by spine deformities is essentially absent from the literature. Finally, recent investigation into the heritability of disc degeneration and lumbar disc herniation suggests a significant genetic component in the etiology of lumbar disc disease.

  9. Quantitative genetics of disease traits.

    Science.gov (United States)

    Wray, N R; Visscher, P M

    2015-04-01

    John James authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability (James Annals of Human Genetics, 1971; 35: 47; Reich, James and Morris Annals of Human Genetics, 1972; 36: 163). These two papers are John James' most cited papers (198 and 328 citations, November 2014). They have been influential in human genetics and have recently gained renewed popularity because of their relevance to the estimation of quantitative genetics parameters for disease traits using SNP data. In this review, we summarize the two early papers and put them into context. We show recent extensions of the theory for ascertained case-control data and review recent applications in human genetics.

  10. Genetic View To Stroke Occurrence

    Directory of Open Access Journals (Sweden)

    Sadegh Yoosefee

    2017-02-01

    Full Text Available Stroke is the third leading cause of death. The role of genetics in the etiology and development of this disease is undeniable. As a result of inadequate previous research, more and more studies in the field of genetics are necessary to identify pathways involved in the pathogenesis of stroke, which in turn, may lead to new therapeutic approaches. However, due to the multifactorial nature of stroke and the few studies conducted in this field, genetic diversity is able to predict only a small fraction of the risk of disease. On the other hand, studies have shown genetically different architecture for different types of stroke, and finally pharmacogenomics as an important part of personalized medicine approach, is influenced by genetic studies, all of which confirm the need of addressing the topic by researchers.

  11. What Use Is Population Genetics?

    Science.gov (United States)

    Charlesworth, Brian

    2015-07-01

    The Genetic Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth's research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation.

  12. Genetic diversity in Trichomonas vaginalis.

    Science.gov (United States)

    Meade, John C; Carlton, Jane M

    2013-09-01

    Recent advances in genetic characterisation of Trichomonas vaginalis isolates show that the extensive clinical variability in trichomoniasis and its disease sequelae are matched by significant genetic diversity in the organism itself, suggesting a connection between the genetic identity of isolates and their clinical manifestations. Indeed, a high degree of genetic heterogeneity in T vaginalis isolates has been observed using multiple genotyping techniques. A unique two-type population structure that is both local and global in distribution has been identified, and there is evidence of recombination within each group, although sexual recombination between the groups appears to be constrained. There is conflicting evidence in these studies for correlations between T vaginalis genetic identity and clinical presentation, metronidazole susceptibility, and the presence of T vaginalis virus, underscoring the need for adoption of a common standard for genotyping the parasite. Moving forward, microsatellite genotyping and multilocus sequence typing are the most robust techniques for future investigations of T vaginalis genotype-phenotype associations.

  13. Integrating genetics and social science: genetic risk scores.

    Science.gov (United States)

    Belsky, Daniel W; Israel, Salomon

    2014-01-01

    The sequencing of the human genome and the advent of low-cost genome-wide assays that generate millions of observations of individual genomes in a matter of hours constitute a disruptive innovation for social science. Many public use social science datasets have or will soon add genome-wide genetic data. With these new data come technical challenges, but also new possibilities. Among these, the lowest-hanging fruit and the most potentially disruptive to existing research programs is the ability to measure previously invisible contours of health and disease risk within populations. In this article, we outline why now is the time for social scientists to bring genetics into their research programs. We discuss how to select genetic variants to study. We explain how the polygenic architecture of complex traits and the low penetrance of individual genetic loci pose challenges to research integrating genetics and social science. We introduce genetic risk scores as a method of addressing these challenges and provide guidance on how genetic risk scores can be constructed. We conclude by outlining research questions that are ripe for social science inquiry.

  14. 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 ...

  15. GENETIC DETERMINATIONS OF MENTALITY

    Directory of Open Access Journals (Sweden)

    L. V. Osadcha

    2015-12-01

    Full Text Available Purpose. The article is devoted to clarifying the role of physicality and psycho-physical characteristics of a person as a preconditions of the mentality forming. It is conducted a retrospective analysis of discourse on the mentality, the history of the concept, its temporal characteristics and collective conditioning. The concept of mentality has been widely studied in various fields of socio-humanities such as: history, psychology, and even marginal context of scientific discourses, including the esoteric. This study attempted to analyse the mentality phenomenon through the prism of the concept of experience. Methodology. The concept of experience was acquired by essential justification through the representatives of the phenomenological approach - the late Edmund Husserl, Maurice Merleau-Ponty, Bernhard Valdenfels. On the other hand the concept of mentality as a form of collective unconscious experience was entered to the scientific vocabulary by the representatives of the French historical science - M. Bloch, L. Febvre, J. Le Goff and others. At the intersection of these two methods, historical and phenomenological, the genetic method has been established – as a history of coverage and experience of internalization. Thanks to the application of genetic method the transition of phenomenon into the concept was examined. Novelty. The problem of change dynamics of mental phenomenon, in particular psycho-physical nature of a person, which has been only mentioned in F. Braudel works but has not received the adequate theoretical coverage, is analysed. To explain the practices of physicality and causality of this factor the action component of the cultural the overview of developments of such authors as V. Rozin (2005, M. Epstein (2005, N. Brunov (2003, A. Soares, M. Farhangmehr, A. Shoham (2007, D. Vaskul, F. Vannini Hospital (2012 was committed. Conclusions. The transition to paradoxical behaviour that is oriented on sign, and not on signalling

  16. Genetics of Endometrial Cancers

    Directory of Open Access Journals (Sweden)

    Tsuyoshi Okuda

    2010-01-01

    Full Text Available Endometrial cancers exhibit a different mechanism of tumorigenesis and progression depending on histopathological and clinical types. The most frequently altered gene in estrogen-dependent endometrioid endometrial carcinoma tumors is PTEN. Microsatellite instability is another important genetic event in this type of tumor. In contrast, p53 mutations or Her2/neu overexpression are more frequent in non-endometrioid tumors. On the other hand, it is possible that the clear cell type may arise from a unique pathway which appears similar to the ovarian clear cell carcinoma. K-ras mutations are detected in approximately 15%–30% of endometrioid carcinomas, are unrelated to the existence of endometrial hyperplasia. A β-catenin mutation was detected in about 20% of endometrioid carcinomas, but is rare in serous carcinoma. Telomere shortening is another important type of genomic instability observed in endometrial cancer. Only non-endometrioid endometrial carcinoma tumors were significantly associated with critical telomere shortening in the adjacent morphologically normal epithelium. Lynch syndrome, which is an autosomal dominantly inherited disorder of cancer susceptibility and is characterized by a MSH2/MSH6 protein complex deficiency, is associated with the development of non-endometrioid carcinomas.

  17. Genetics of emotion.

    Science.gov (United States)

    Bevilacqua, Laura; Goldman, David

    2011-09-01

    Emotion is critical to most aspects of human behavior, and individual differences in systems recruited to process emotional stimuli, expressed as variation in emotionality, are characteristic of several neuropsychiatric disorders. We examine the genetic origins of individual differences in emotion processing by focusing on functional variants at five genes: catechol-O-methyltransferase (COMT), serotonin transporter (SLC6A4), neuropeptide Y (NPY), a glucocorticoid receptor-regulating co-chaperone of stress proteins (FKBP5) and pituitary adenylate cyclase-activating polypeptide receptor (ADCYAP1R1). These represent a range of effects of genes on emotion as well as the variety of mechanisms and factors, such as stress, that modify these effects. The new genomic era of genome-wide association studies (GWAS) and deep sequencing may yield a wealth of new loci modulating emotion. The effects of these genes can be validated by neuroimaging, neuroendocrine and other studies accessing intermediate phenotypes, deepening our understanding of mechanisms of emotion and variation in emotionality.

  18. Genetics of Proteasome Diseases

    Directory of Open Access Journals (Sweden)

    Aldrin V. Gomes

    2013-01-01

    Full Text Available The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins. Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer. One polymorphism in the proteasome gene PSMA6 (−8C/G is associated with three different diseases: type 2 diabetes, myocardial infarction, and coronary artery disease. One type of proteasome, the immunoproteasome, which contains inducible catalytic subunits, is adapted to generate peptides for antigen presentation. It has recently been shown that mutations and polymorphisms in the immunoproteasome catalytic subunit PSMB8 are associated with several inflammatory and autoinflammatory diseases including Nakajo-Nishimura syndrome, CANDLE syndrome, and intestinal M. tuberculosis infection. This comprehensive review describes the disease-related polymorphisms in proteasome genes associated with human diseases and the physiological modulation of proteasome function by these polymorphisms. Given the large number of subunits and the central importance of the proteasome in human physiology as well as the fast pace of detection of proteasome polymorphisms associated with human diseases, it is likely that other polymorphisms in proteasome genes associated with diseases will be detected in the near future. While disease-associated polymorphisms are now readily discovered, the challenge will be to use this genetic information for clinical benefit.

  19. Genetic aspects of pheochromocytoma.

    Science.gov (United States)

    Kolačkov, Katarzyna; Tupikowski, Krzysztof; Bednarek-Tupikowska, Grażyna

    2012-01-01

    Pheochromocytomas are derived from chromaffin cells of the adrenal medulla which synthesize and secrete catecholamines, thus affecting the cardiovascular system and metabolic processes. Pheochromocytoma is a tumor of the following multicarcinoma hereditary syndromes: type 2 multiple endocrine neoplasia, von Hippel-Lindau disease, type 1 neurofibromatosis and the pheochromocytomas/paragangliomas syndrome. Pheochromocytomas are relatively rare, and because of non-specific manifestation of these tumors and the possible lack of signs and symptoms for extended periods of time, the diagnosis may be delayed, which may, in turn, lead to death. Pheochromocytomas may occur sporadically. However, due to the frequent incidence of hereditary forms of these cancers, the presymptomatic genetic testing of family members with a positive family history is indicated, thus allowing for selecting people with higher risk of cancer. Early detection of the syndrome and the coexisting tumors (which may be malignant) may lead to a correct diagnosis, regular surveillance, preventive examinations and implementation of appropriate early treatment. Recent examinations have shown significant involvement of RET, VHL, NF1, SDHB and SDHD as well as the newly discovered KIF1Bβ, TMEM127 and MAX genes in pathogenesis of these tumors. The microarray-gene expression studies, based on the analysis of cellular pathways, have revealed two distinct clusters indicating two different routes of tumorgenesis. The genotype-phenotype correlations are still being studied and future research can give us clearer information about the function of these genes, which may prove crucial from the clinical point of view.

  20. The genetic tyrosinemias.

    Science.gov (United States)

    Scott, C Ronald

    2006-05-15

    The genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. The most severe form of tyrosinemia, Type I, is a devastating disorder of childhood that causes liver failure, painful neurologic crises, rickets, and hepatocarcinoma. This disorder is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). If untreated, death typically occurs at less than 2 years of age, with some chronic forms allowing longer survival. It has a prevalence of about 1 in 100,000 newborns in the general population. Oculocutaneous tyrosinemia, Type II, is caused by a deficiency of tyrosine aminotransferase (TAT). It clinically presents with hyperkeratotic plaques on the hands and soles of the feet and photophobia due to deposition of tyrosine crystals within the cornea. Tyrosinemia Type III is an extremely rare disorder caused by a deficiency of 4-hydroxyphenylpyruvic dioxygenase. It has been associated with ataxia and mild mental retardation. These disorders are diagnosed by observing elevated tyrosine by plasma amino acid chromatography and characteristic tyrosine metabolites by urine organic acid analysis. In tyrosinemia Type I, methionine is also elevated, reflecting impaired hepatocellular function. Urine organic acids show elevated p-hydroxy-phenyl organic acids in each type of tyrosinemia, and the pathognomic succinylacetone in tyrosinemia Type I. Diagnosis can be confirmed by enzyme or molecular studies in tyrosinemia Type I. Therapy consists of a diet low in phenylalanine and tyrosine for each of the tyrosinemias and 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) for tyrosinemia Type I.

  1. Genetics and alcoholism.

    Science.gov (United States)

    Edenberg, Howard J; Foroud, Tatiana

    2013-08-01

    Alcohol is widely consumed; however, excessive use creates serious physical, psychological and social problems and contributes to the pathogenesis of many diseases. Alcohol use disorders (that is, alcohol dependence and alcohol abuse) are maladaptive patterns of excessive drinking that lead to serious problems. Abundant evidence indicates that alcohol dependence (alcoholism) is a complex genetic disease, with variations in a large number of genes affecting a person's risk of alcoholism. Some of these genes have been identified, including two genes involved in the metabolism of alcohol (ADH1B and ALDH2) that have the strongest known affects on the risk of alcoholism. Studies continue to reveal other genes in which variants affect the risk of alcoholism or related traits, including GABRA2, CHRM2, KCNJ6 and AUTS2. As more variants are analysed and studies are combined for meta-analysis to achieve increased sample sizes, an improved picture of the many genes and pathways that affect the risk of alcoholism will be possible.

  2. Pancreatic Cancer Genetics.

    Science.gov (United States)

    Amundadottir, Laufey T

    2016-01-01

    Although relatively rare, pancreatic tumors are highly lethal [1]. In the United States, an estimated 48,960 individuals will be diagnosed with pancreatic cancer and 40,560 will die from this disease in 2015 [1]. Globally, 337,872 new pancreatic cancer cases and 330,391 deaths were estimated in 2012 [2]. In contrast to most other cancers, mortality rates for pancreatic cancer are not improving; in the US, it is predicted to become the second leading cause of cancer related deaths by 2030 [3, 4]. The vast majority of tumors arise in the exocrine pancreas, with pancreatic ductal adenocarcinoma (PDAC) accounting for approximately 95% of tumors. Tumors arising in the endocrine pancreas (pancreatic neuroendocrine tumors) represent less than 5% of all pancreatic tumors [5]. Smoking, type 2 diabetes mellitus (T2D), obesity and pancreatitis are the most consistent epidemiological risk factors for pancreatic cancer [5]. Family history is also a risk factor for developing pancreatic cancer with odds ratios (OR) ranging from 1.7-2.3 for first-degree relatives in most studies, indicating that shared genetic factors may play a role in the etiology of this disease [6-9]. This review summarizes the current knowledge of germline pancreatic cancer risk variants with a special emphasis on common susceptibility alleles identified through Genome Wide Association Studies (GWAS).

  3. Genetics Home Reference: mucopolysaccharidosis type IV

    Science.gov (United States)

    ... Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects ... Management Genetic Testing (3 links) Genetic Testing Registry: Morquio syndrome Genetic Testing Registry: Mucopolysaccharidosis, MPS-IV-A ...

  4. The value of cardiac genetic testing.

    Science.gov (United States)

    Ingles, Jodie; Semsarian, Christopher

    2014-08-01

    Genetic testing is an important and necessary aspect of the management of families with cardiac genetic conditions. Commercial genetic tests are available for most cardiac genetic diseases, and increasing uptake amongst patients has contributed to a vastly improved knowledge of the genetic basis of these diseases. The incredible advances in genetic technologies have translated to faster, more comprehensive, and inexpensive commercial genetic tests and has completely changed the landscape of commercial genetic testing in recent years. While there are enormous challenges, mostly relating to interpretation of variants, the value of a genetic diagnosis should not be underestimated. In almost all cases, the single greatest utility is for the predictive genetic testing of family members. This review will describe the value of cardiac genetic testing in the current climate of rapid genetic advancements. Copyright © 2014 Elsevier Inc. All rights reserved.

  5. Genetics 101 --The Hereditary Material of Life

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Genetics 101 — The Hereditary Material of Life Past Issues / Summer 2013 Table of Contents Genetics is the study of heredity, the process in ...

  6. Crop Genetics: The Seeds of Revolution.

    Science.gov (United States)

    DeYoung, H. Garrett

    1983-01-01

    Current research in plant genetics is described. Benefits of this research (which includes genetic engineering applications) will include reduction/elimination of crop diseases, assurance of genetic stability, and the creation of new crop varieties. (JN)

  7. Genetics Home Reference: Klippel-Trenaunay syndrome

    Science.gov (United States)

    ... age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily. Klippel-Trenaunay ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Klippel ...

  8. Genetics Home Reference: Langerhans cell histiocytosis

    Science.gov (United States)

    ... also frequently occur in the skin, appearing as blisters, reddish bumps, or rashes which can be mild ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Langerhans ...

  9. Genetics Home Reference: Muckle-Wells syndrome

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Genetic Testing (1 link) Genetic Testing Registry: Familial amyloid nephropathy with urticaria AND deafness General Information from MedlinePlus ( ...

  10. Genetics Home Reference: lateral meningocele syndrome

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Lehman syndrome Other Diagnosis and Management Resources (1 link) ... in my area? Other Names for This Condition Lehman syndrome LMS Related Information How are genetic conditions ...

  11. Genetics Home Reference: Schinzel-Giedion syndrome

    Science.gov (United States)

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

  12. Genetics Home Reference: sepiapterin reductase deficiency

    Science.gov (United States)

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

  13. Genetics Home Reference: septo-optic dysplasia

    Science.gov (United States)

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

  14. Genetics Home Reference: severe congenital neutropenia

    Science.gov (United States)

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

  15. Genetics Home Reference: tubular aggregate myopathy

    Science.gov (United States)

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

  16. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... Genetic Testing (4 links) Genetic Testing Registry: Ateleiotic dwarfism Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency ... in my area? Other Names for This Condition dwarfism, growth hormone deficiency dwarfism, pituitary growth hormone deficiency ...

  17. Genetics and recent human evolution.

    Science.gov (United States)

    Templeton, Alan R

    2007-07-01

    Starting with "mitochondrial Eve" in 1987, genetics has played an increasingly important role in studies of the last two million years of human evolution. It initially appeared that genetic data resolved the basic models of recent human evolution in favor of the "out-of-Africa replacement" hypothesis in which anatomically modern humans evolved in Africa about 150,000 years ago, started to spread throughout the world about 100,000 years ago, and subsequently drove to complete genetic extinction (replacement) all other human populations in Eurasia. Unfortunately, many of the genetic studies on recent human evolution have suffered from scientific flaws, including misrepresenting the models of recent human evolution, focusing upon hypothesis compatibility rather than hypothesis testing, committing the ecological fallacy, and failing to consider a broader array of alternative hypotheses. Once these flaws are corrected, there is actually little genetic support for the out-of-Africa replacement hypothesis. Indeed, when genetic data are used in a hypothesis-testing framework, the out-of-Africa replacement hypothesis is strongly rejected. The model of recent human evolution that emerges from a statistical hypothesis-testing framework does not correspond to any of the traditional models of human evolution, but it is compatible with fossil and archaeological data. These studies also reveal that any one gene or DNA region captures only a small part of human evolutionary history, so multilocus studies are essential. As more and more loci became available, genetics will undoubtedly offer additional insights and resolutions of human evolution.

  18. Imaging genetics and psychiatric disorders.

    Science.gov (United States)

    Hashimoto, R; Ohi, K; Yamamori, H; Yasuda, Y; Fujimoto, M; Umeda-Yano, S; Watanabe, Y; Fukunaga, M; Takeda, M

    2015-01-01

    Imaging genetics is an integrated research method that uses neuroimaging and genetics to assess the impact of genetic variation on brain function and structure. Imaging genetics is both a tool for the discovery of risk genes for psychiatric disorders and a strategy for characterizing the neural systems affected by risk gene variants to elucidate quantitative and mechanistic aspects of brain function implicated in psychiatric disease. Early studies of imaging genetics included association analyses between brain morphology and single nucleotide polymorphisms whose function is well known, such as catechol-Omethyltransferase (COMT) and brain-derived neurotrophic factor (BDNF). GWAS of psychiatric disorders have identified genes with unknown functions, such as ZNF804A, and imaging genetics has been used to investigate clues of the biological function of these genes. The difficulty in replicating the findings of studies with small sample sizes has motivated the creation of largescale collaborative consortiums, such as ENIGMA, CHARGE and IMAGEN, to collect thousands of images. In a genome-wide association study, the ENIGMA consortium successfully identified common variants in the genome associated with hippocampal volume at 12q24, and the CHARGE consortium replicated this finding. The new era of imaging genetics has just begun, and the next challenge we face is the discovery of small effect size signals from large data sets obtained from genetics and neuroimaging. New methods and technologies for data reduction with appropriate statistical thresholds, such as polygenic analysis and parallel independent component analysis (ICA), are warranted. Future advances in imaging genetics will aid in the discovery of genes and provide mechanistic insight into psychiatric disorders.

  19. Imaging Genetics and Psychiatric Disorders

    Science.gov (United States)

    Hashimoto, R; Ohi, K; Yamamori, H; Yasuda, Y; Fujimoto, M; Umeda-Yano, S; Watanabe, Y; Fukunaga, M; Takeda, M

    2015-01-01

    Imaging genetics is an integrated research method that uses neuroimaging and genetics to assess the impact of genetic variation on brain function and structure. Imaging genetics is both a tool for the discovery of risk genes for psychiatric disorders and a strategy for characterizing the neural systems affected by risk gene variants to elucidate quantitative and mechanistic aspects of brain function implicated in psychiatric disease. Early studies of imaging genetics included association analyses between brain morphology and single nucleotide polymorphisms whose function is well known, such as catechol-O-methyltransferase (COMT) and brain-derived neurotrophic factor (BDNF). GWAS of psychiatric disorders have identified genes with unknown functions, such as ZNF804A, and imaging genetics has been used to investigate clues of the biological function of these genes. The difficulty in replicating the findings of studies with small sample sizes has motivated the creation of large-scale collaborative consortiums, such as ENIGMA, CHARGE and IMAGEN, to collect thousands of images. In a genome-wide association study, the ENIGMA consortium successfully identified common variants in the genome associated with hippocampal volume at 12q24, and the CHARGE consortium replicated this finding. The new era of imaging genetics has just begun, and the next challenge we face is the discovery of small effect size signals from large data sets obtained from genetics and neuroimaging. New methods and technologies for data reduction with appropriate statistical thresholds, such as polygenic analysis and parallel independent component analysis (ICA), are warranted. Future advances in imaging genetics will aid in the discovery of genes and provide mechanistic insight into psychiatric disorders. PMID:25732148

  20. Genetic Modifiers of Ovarian Cancer

    Science.gov (United States)

    2014-08-01

    variants and cancer risk in Mendelian cancer syndromes. Curr Opin Genet Dev 20: 299–307. S0959-437X(10)00044-4 [pii];10.1016/j.gde.2010.03.010 [doi]. 3...AWARD NUMBER: W81XWH-10-1-0341 TITLE: Genetic Modifiers of Ovarian Cancer PRINCIPAL INVESTIGATOR: Fergus J. Couch, Ph.D. CONTRACTING...DATE AUG 2014 2. REPORT TYPE Final 3. DATES COVERED 15MAY2010 - 14MAY2014 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Genetic Modifiers of Ovarian

  1. [Genetic evaluation of male homosexuality].

    Science.gov (United States)

    Gasztonyi, Z

    1998-02-01

    The family trees of 16 homosexual males are evaluated in the material of their Genetic Counselling Clinic. The familial cluster of three cases corresponded to the X-linked recessive inheritance. The results of family, twin and adoption studies are reviewed and the recent findings of molecular genetic and brain researches are summarised. Male homosexuality comprises of different subgroups, but one major entity is caused by X-linked recessive gene(s). This genetic background represent a predisposition which is triggered or suppressed by external factors.

  2. Genetic diagnostics and genetic counselling in Hypertrophic Cardiomyopathy (HCM).

    Science.gov (United States)

    2010-03-01

    DUTCH PROFESSIONAL GROUPS INVOLVED IN DRAWING UP THIS GUIDELINE: cardiologists, paediatric cardiologists, clinical geneticists, clinical molecular geneticists, genetic counsellors, psychosocial workers, associated with or cooperating with the university hospitals' outpatient clinics for cardiogenetics.Approved by the NVVC, VKGN and NVK (paediatric cardiology section).NVVC - Nederlandse Vereniging voor Cardiologie - Dutch Society for Cardiology; VKGN - Vereniging Klinische Genetica Nederland - the Netherlands Society for Clinical Genetics; NVK - Nederlandse Vereniging Kindergeneeskunde - Dutch Society for Paediatrics.First published in Dutch in June 2009.

  3. [The genetic language: grammar, semantics, evolution].

    Science.gov (United States)

    Ratner, V A

    1993-05-01

    The genetic language is a collection of rules and regularities of genetic information coding for genetic texts. It is defined by alphabet, grammar, collection of punctuation marks and regulatory sites, semantics. There is a review of these general attributes of genetic language, including also the problems of synonymy and evolution. The main directions of theoretical investigations of genetic language and neighbouring questions are formulated: (1) cryptographic problems, (2) analysis of genetic texts, (3) theoretical-linguistic problems, (4) evolutionary linguistic questions. The problem of genetic language becomes one of the key ones of molecular genetics, molecular biology and gene engineering.

  4. Genetic mouse models for otitis media

    Institute of Scientific and Technical Information of China (English)

    Qingyin Zheng; Ken R Johnson

    2003-01-01

    @@ Genetics of Otitis Media (OM): OM is affected by multiple factors including eustachian tube (ET) structure and function, immune status, innate mucosal defense, genetic susceptibility, and pathogens.

  5. Attitudes towards genetic testing: analysis of contradictions

    DEFF Research Database (Denmark)

    Jallinoja, P; Hakonen, A; Aro, A R

    1998-01-01

    A survey study was conducted among 1169 people to evaluate attitudes towards genetic testing in Finland. Here we present an analysis of the contradictions detected in people's attitudes towards genetic testing. This analysis focuses on the approval of genetic testing as an individual choice...... and on the confidence in control of the process of genetic testing and its implications. Our analysis indicated that some of the respondents have contradictory attitudes towards genetic testing. It is proposed that contradictory attitudes towards genetic testing should be given greater significance both in scientific...... studies on attitudes towards genetic testing as well as in the health care context, e.g. in genetic counselling....

  6. Genetics Home Reference: chylomicron retention disease

    Science.gov (United States)

    ... a rare condition with approximately 40 cases described worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  7. Genetics Home Reference: Meesmann corneal dystrophy

    Science.gov (United States)

    ... condition has been reported in individuals and families worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  8. Genetics Home Reference: factor X deficiency

    Science.gov (United States)

    ... deficiency occurs in approximately 1 per million individuals worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  9. Genetics Home Reference: Laing distal myopathy

    Science.gov (United States)

    ... Several families with the condition have been identified worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  10. Routine Discovery of Complex Genetic Models using Genetic Algorithms.

    Science.gov (United States)

    Moore, Jason H; Hahn, Lance W; Ritchie, Marylyn D; Thornton, Tricia A; White, Bill C

    2004-02-01

    Simulation studies are useful in various disciplines for a number of reasons including the development and evaluation of new computational and statistical methods. This is particularly true in human genetics and genetic epidemiology where new analytical methods are needed for the detection and characterization of disease susceptibility genes whose effects are complex, nonlinear, and partially or solely dependent on the effects of other genes (i.e. epistasis or gene-gene interaction). Despite this need, the development of complex genetic models that can be used to simulate data is not always intuitive. In fact, only a few such models have been published. We have previously developed a genetic algorithm approach to discovering complex genetic models in which two single nucleotide polymorphisms (SNPs) influence disease risk solely through nonlinear interactions. In this paper, we extend this approach for the discovery of high-order epistasis models involving three to five SNPs. We demonstrate that the genetic algorithm is capable of routinely discovering interesting high-order epistasis models in which each SNP influences risk of disease only through interactions with the other SNPs in the model. This study opens the door for routine simulation of complex gene-gene interactions among SNPs for the development and evaluation of new statistical and computational approaches for identifying common, complex multifactorial disease susceptibility genes.

  11. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  12. Genetics Home Reference: cardiofaciocutaneous syndrome

    Science.gov (United States)

    ... which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells ( ... RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet. 2007 Dec; ...

  13. The genetics of human obesity.

    Science.gov (United States)

    Xia, Qianghua; Grant, Struan F A

    2013-04-01

    It has long been known that there is a genetic component to obesity, and that characterizing this underlying factor would likely offer the possibility of better intervention in the future. Monogenic obesity has proved to be relatively straightforward, with a combination of linkage analysis and mouse models facilitating the identification of multiple genes. In contrast, genome-wide association studies have successfully revealed a variety of genetic loci associated with the more common form of obesity, allowing for very strong consensus on the underlying genetic architecture of the phenotype for the first time. Although a number of significant findings have been made, it appears that very little of the apparent heritability of body mass index has actually been explained to date. New approaches for data analyses and advances in technology will be required to uncover the elusive missing heritability, and to aid in the identification of the key causative genetic underpinnings of obesity. © 2013 New York Academy of Sciences.

  14. Genetics Home Reference: mycosis fungoides

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions mycosis fungoides mycosis fungoides Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Mycosis fungoides is the most common form of a ...

  15. Genetics Home Reference: myotonic dystrophy

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions myotonic dystrophy myotonic dystrophy Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Myotonic dystrophy is part of a group of inherited disorders ...

  16. Genetics Home Reference: lung cancer

    Science.gov (United States)

    ... neoplasm of lung malignant tumor of lung pulmonary cancer pulmonary carcinoma pulmonary neoplasms respiratory carcinoma Related Information How are genetic conditions and genes named? Additional Information & Resources ... Encyclopedia: Lung Cancer--Non-Small Cell Encyclopedia: Lung Cancer--Small Cell ...

  17. Genetics Home Reference: otospondylomegaepiphyseal dysplasia

    Science.gov (United States)

    ... the body that this condition affects: the ears (oto-), the bones of the spine (spondylo-), and the ... dwarfism Nance-Insley syndrome Nance-Sweeney chondrodysplasia OSMED oto-spondylo-megaepiphyseal dysplasia Related Information How are genetic ...

  18. Genetics Home Reference: prothrombin thrombophilia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions prothrombin thrombophilia prothrombin thrombophilia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Prothrombin thrombophilia is an inherited disorder of blood clotting . Thrombophilia ...

  19. Genetics Home Reference: Crohn disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Crohn disease Crohn disease Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Crohn disease is a complex, chronic disorder that primarily affects ...

  20. Genetics Home Reference: spina bifida

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions spina bifida spina bifida Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Spina bifida is a condition in which the neural tube, ...

  1. Genetic algorithm optimization of entanglement

    CERN Document Server

    Navarro-Munoz, J C; Rosu, H C; Navarro-Munoz, Jorge C.

    2006-01-01

    We present an application of a genetic algorithmic computational method to the optimization of the concurrence measure of entanglement for the cases of one dimensional chains, as well as square and triangular lattices in a simple tight-binding approach

  2. Genetics Home Reference: Feingold syndrome

    Science.gov (United States)

    ... for This Page Celli J, van Bokhoven H, Brunner HG. Feingold syndrome: clinical review and genetic mapping. ... RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotype correlations in ...

  3. Genetics Home Reference: hereditary spherocytosis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions hereditary spherocytosis hereditary spherocytosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hereditary spherocytosis is a condition that affects red blood cells. ...

  4. Genetics Home Reference: lactose intolerance

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions lactose intolerance lactose intolerance Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Lactose intolerance is an impaired ability to digest lactose, ...

  5. Optimal screening for genetic diseases.

    Science.gov (United States)

    Nævdal, Eric

    2014-12-01

    Screening for genetic diseases is performed in many regions and/or ethnic groups where there is a high prevalence of possibly malign genes. The propagation of such genes can be considered a dynamic externality. Given that many of these diseases are untreatable and give rise to truly tragic outcomes, they are a source of societal concern, and the screening process should perhaps be regulated. This paper incorporates a standard model of genetic propagation into an economic model of dynamic management to derive cost benefit rules for optimal screening. The highly non-linear nature of genetic dynamics gives rise to perhaps surprising results that include discontinuous controls and threshold effects. One insight is that any screening program that is in place for any amount of time should screen all individuals in a target population. The incorporation of genetic models may prove to be useful to several emerging fields in economics such as genoeconomics, neuroeconomics and paleoeconomics.

  6. Genetics Home Reference: Swyer syndrome

    Science.gov (United States)

    ... raised as girls and have a female gender identity. Because they do not have functional ovaries, affected ... called isolated Swyer syndrome . However, depending on the genetic cause, Swyer syndrome may also occur along with ...

  7. Genetic engineering of Geobacillus spp.

    Science.gov (United States)

    Kananavičiūtė, Rūta; Čitavičius, Donaldas

    2015-04-01

    Members of the genus Geobacillus are thermophiles that are of great biotechnological importance, since they are sources of many thermostable enzymes. Because of their metabolic versatility, geobacilli can be used as whole-cell catalysts in processes such as bioconversion and bioremediation. The effective employment of Geobacillus spp. requires the development of reliable methods for genetic engineering of these bacteria. Currently, genetic manipulation tools and protocols are under rapid development. However, there are several convenient cloning vectors, some of which replicate autonomously, while others are suitable for the genetic modification of chromosomal genes. Gene expression systems are also intensively studied. Combining these tools together with proper techniques for DNA transfer, some Geobacillus strains were shown to be valuable producers of recombinant proteins and industrially important biochemicals, such as ethanol or isobutanol. This review encompasses the progress made in the genetic engineering of Geobacillus spp. and surveys the vectors and transformation methods that are available for this genus.

  8. Genetics Home Reference: amelogenesis imperfecta

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions amelogenesis imperfecta amelogenesis imperfecta Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Amelogenesis imperfecta is a disorder of tooth development. This ...

  9. Genetic testing in domestic cats.

    Science.gov (United States)

    Lyons, Leslie A

    2012-12-01

    Varieties of genetic tests are currently available for the domestic cat that support veterinary health care, breed management, species identification, and forensic investigations. Approximately thirty-five genes contain over fifty mutations that cause feline health problems or alterations in the cat's appearance. Specific genes, such as sweet and drug receptors, have been knocked-out of Felidae during evolution and can be used along with mtDNA markers for species identification. Both STR and SNP panels differentiate cat race, breed, and individual identity, as well as gender-specific markers to determine sex of an individual. Cat genetic tests are common offerings for commercial laboratories, allowing both the veterinary clinician and the private owner to obtain DNA test results. This article will review the genetic tests for the domestic cat, and their various applications in different fields of science. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's genome.

  10. Genetics Home Reference: rheumatoid arthritis

    Science.gov (United States)

    ... D; Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndicate; Wellcome Trust Case Control Consortium, Concannon P, Onengut-Gumuscu S, Rich SS, Deloukas P, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Ärlsetig L, Martin J, ...

  11. Genetic polymorphisms in Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    Ho-chang KUO; Wei-chiao CHANG

    2011-01-01

    Kawasaki disease (KD) is an acute febrile systemic vasculitis,and the cause of KD is not well understood.It is likely due to multiple interactions between genes and environmental factors.The development of genetic association and genome-wide association studies (GWAS) has opened an avenue to better understanding the molecular mechanisms underlying KD.A novel ITPKC signaling pathway was recently found to be responsible for the susceptibility to KD.Furthermore,the GWAS demonstrated the functionally related susceptibility loci for KD in the Caucasian population.In the last decade,the identification of several genomic regions linked to the pathogenesis of KD has made a major breakthrough in understanding the genetics of KD.This review will focus on genetic polymorphisms associated with KD and describe some of the possible clinical implications and molecular mechanisms that can be used to explain how genetic variants regulate the pathogenesis in KD.

  12. Genetics Home Reference: Canavan disease

    Science.gov (United States)

    ... Information Page National Institute of Neurological Disorders and Stroke: Leukodystrophy Information Page Educational Resources (7 links) Center for Jewish Genetic Diseases, Mount Sinai School of Medicine Disease InfoSearch: ...

  13. Genetics Home Reference: Parkinson disease

    Science.gov (United States)

    ... on Aging National Institutes of Neurological Disorders and Stroke: Parkinson's Disease Research Web Educational Resources (9 links) Centre for Genetics Education (Australia) Disease InfoSearch: Parkinson Disease MalaCards: lrrk2- ...

  14. Genetics Home Reference: Friedreich ataxia

    Science.gov (United States)

    ... Hypertrophic Cardiomyopathy National Institute of Neurological Disorders and Stroke: Friedreich's Ataxia Fact Sheet General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information ...

  15. Genetics Home Reference: Angelman syndrome

    Science.gov (United States)

    ... 1 link) National Institute of Neurological Disorders and Stroke Educational Resources (7 links) Boston Children's Hospital Disease InfoSearch: Angelman Syndrome Genetics Education Materials for School Success (GEMSS) MalaCards: angelman ...

  16. Genetics Home Reference: cystic fibrosis

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions cystic fibrosis cystic fibrosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Cystic fibrosis is an inherited disease characterized by the buildup ...

  17. Genetics Home Reference: Hashimoto thyroiditis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Hashimoto thyroiditis Hashimoto thyroiditis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hashimoto thyroiditis is a condition that affects the function of ...

  18. 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.

  19. Future possibilities in migraine genetics

    DEFF Research Database (Denmark)

    Rudkjøbing, Laura Aviaja; Esserlind, Ann-Louise; Olesen, Jes

    2012-01-01

    in other diseases and have interviewed three experts in the field of genetics and complex traits. The experts' ideas suggest that the preferred NGS approach depends on the expected effect size and the frequency of the variants of interest. Family-specific variants can be found by sequencing a small number......Migraine with and without aura (MA and MO, respectively) have a strong genetic basis. Different approaches using linkage-, candidate gene- and genome-wide association studies have been explored, yielding limited results. This may indicate that the genetic component in migraine is due to rare...... variants; capturing these will require more detailed sequencing in order to be discovered. Next-generation sequencing (NGS) techniques such as whole exome and whole genome sequencing have been successful in finding genes in especially monogenic disorders. As the molecular genetics research progresses...

  20. Genetics of cardiomyopathies in children

    Directory of Open Access Journals (Sweden)

    Matteo Vatta

    2011-08-01

    Full Text Available Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomyopathy, genetic etiologies are frequent, but non-genetic or acquired causes, such viral infection, also play a significant role. In the last twenty years, the genetic causes of cardiomyopathies have been increasingly identified and clinical correlations are beginning to be defined. Here we present an overview of the recent advances in our understanding of the genetics of cardiomyopathies in children and what is known about the pathophysiological mechanisms underlying these gene-related forms of disease.