Genomes and Genes
Summary: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.
Publications205 found, 100 shown here
- Genetic structure of human populationsNoah A Rosenberg
Molecular and Computational Biology, 1042 West 36th Place DRB 289, University of Southern California, Los Angeles, CA 90089, USA
Science 298:2381-5. 2002..General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies...
- A map of human genome sequence variation containing 1.42 million single nucleotide polymorphismsR Sachidanandam
Cold Spring Harbor, New York 11724, USA
Nature 409:928-33. 2001..This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy...
- Population history and its impact on medical genetics in QuebecA M Laberge
Service de Genetique Medicale, Hopital Ste Justine, Montreal, Quebec, Canada
Clin Genet 68:287-301. 2005..Three genetic diseases of Quebec First Nations children are also discussed: Cree encephalitis (MIM 608505), Cree leukoencephalopathy (MIM 603896) and North American Indian childhood cirrhosis (MIM 604901)...
- A vision for the future of genomics researchFrancis S Collins
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Nature 422:835-47. 2003
- Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa)Ambroise Wonkam
Department of Genetic Medicine and Development, Geneva University Hospitals, Geneva, Switzerland
Genet Med 8:331-8. 2006..Little is known about physician's knowledge of, and attitudes toward genetics in sub-Saharan Africa...
- A comprehensive literature review of haplotyping software and methods for use with unrelated individualsRany M Salem
Polymorphism Research Laboratory, Department of Psychiatry, University of California, San Diego, CA, USA
Hum Genomics 2:39-66. 2005..It is concluded that the selection of an appropriate haplotyping program for analysis purposes should be guided by what is known about the accuracy of estimation, as well as by the limitations and assumptions built into a program...
- Medical genetics in developing countriesArnold Christianson
Division of Human Genetics, National Health Laboratory Service and Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2000, South Africa
Annu Rev Genomics Hum Genet 5:219-65. 2004..We present a new pragmatic approach for the care and prevention of congenital disorders in these countries, pioneered initially by the World Health Organization...
- Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studiesAndrew D Skol
Department of Biostatistics and Center for Statistical Genetics, University of Michigan, 1420 Washington Heights, Ann Arbor, Michigan 48109 2029, USA
Nat Genet 38:209-13. 2006..30), and a relatively large proportion of markers are selected for follow-up in stage 2 (pi(markers) >or= 0.01)...
- Genetics, statistics and human disease: analytical retooling for complexityTricia A Thornton-Wells
Neuroscience Graduate Program, Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, TN 37240, USA
Trends Genet 20:640-7. 2004..Finally, we propose a comprehensive two-step approach to analysis that systemically addresses the different genetic factors that are likely to underlie complex diseases...
- Public experiences, knowledge and expectations about medical genetics and the use of genetic informationLidewij Henneman
Department of Social Medicine, Institute for Research in Extramural Medicine, VU University Medical Center, Amsterdam, The Netherlands
Community Genet 7:33-43. 2004....
- Medical genetics in the genomic medicine of the 21st centuryCharles J Epstein
Department of Pediatrics and Center for Human Genetics, University of California, San Francisco, USA
Am J Hum Genet 79:434-8. 2006
- The current status of medical genetics instruction in US and Canadian medical schoolsVirginia Carol Thurston
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
Acad Med 82:441-5. 2007Relatively little is known about how medical genetics is being taught in the undergraduate medical curriculum and whether educators concur regarding topical priority...
- A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: recommendations of the United States secretary for health and human services advisory committee on heritable disorders in newborns and chiAlex R Kemper
Department of Pediatrics and Duke Clinical Research Institute, Duke University, Durham, North Carolina 27705, USA
Genet Med 12:77-80. 2010..The Subcommittee reviewed the report and put forth recommendations to the Committee, which were adopted by the Committee in September 2009...
- Flow cytometry: an 'old' tool for novel applications in medical geneticsN Wedemeyer
Institut für Strahlenbiologie der Westfälischen Wilhelms Universität, Munster, Germany
Clin Genet 60:1-8. 2001..Overall, this review demonstrates flow cytometry as a rapid, sensitive, and reproducible tool applicable to a wide range of medical genetic approaches...
- Medical genetics: 1. Clinical teratology in the age of genomicsJanine E Polifka
Department of Pediatrics, University of Washington, Seattle, USA
CMAJ 167:265-73. 2002..We discuss general principles of risk counselling and risk reduction, and we describe several long-known teratogens, as well as several exposures recognized only recently to have teratogenic potential...
- The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified geneticistsJudith A Cooksey
Genetics Health Services Research Center, Department of Epidemiology and Preventive Medicine, University of Maryland School of Medicine, 660 West Redwood Street, Baltimore, MD 21201, USA
Genet Med 7:439-43. 2005
- Retention of medical genetics knowledge and skills by medical studentsAnne E Greb
Wayne State University School of Medicine, Detroit, Michigan 48201, USA
Genet Med 11:365-70. 2009..To determine whether specific knowledge and skills medical students acquire after completing a Year 1 genetics course are retained at the end of Year 3...
- Consanguinity and its relevance to clinical geneticsA Bittles
Centre for Human Genetics, Edith Cowan University, 100 Joondalup Drive, Perth WA 6027, Australia
Clin Genet 60:89-98. 2001..This review examines the outcomes of consanguineous unions, with proposals as to how the ongoing preference for consanguinity in many communities can best be accommodated from a clinical genetics perspective...
- Measures of autozygosity in decline: globalization, urbanization, and its implications for medical geneticsMichael A Nalls
Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, Maryland, United States of America
PLoS Genet 5:e1000415. 2009..Autozygosity has declined, and it seems it will continue doing so...
- Genetic traces of ancient demographyH C Harpending
Department of Anthropology, University of Utah, Salt Lake City, UT 84112, USA
Proc Natl Acad Sci U S A 95:1961-7. 1998..This genetic evidence denies any version of the multiregional model of modern human origins. It implies instead that our ancestors were effectively a separate species for most of the Pleistocene...
- Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1N Yu
Department of Ecology and Evolution, University of Chicago, 1101 East 57th Street, Chicago, IL 60637, USA
Mol Biol Evol 18:214-22. 2001..We suggest that both the "Out of Africa" and the multiregional models are too simple to explain the evolution of modern humans...
- Is medical genetics neglecting epigenetics?Arthur L Beaudet
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Genet Med 4:399-402. 2002
- Human population genetic structure and inference of group membershipMichael J Bamshad
Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA
Am J Hum Genet 72:578-89. 2003..This suggests that a more flexible framework is needed for making inferences about population structure and the utility of proxies...
- Adjusting the focus on human variationM Przeworski
Committee on Evolutionary Biology, University of Chicago, IL 60637, USA
Trends Genet 16:296-302. 2000..A possible explanation is that a subset of loci are not evolving neutrally; even so, more-complex models of effective population size and structure might be necessary to explain the data...
- Single nucleotide polymorphisms as tools in human geneticsI C Gray
Department of Biotechnology and Genetics, SmithKline Beecham Pharmaceuticals, New Frontiers Science Park, Third Avenue, Harlow, Essex CM19 5AW, UK
Hum Mol Genet 9:2403-8. 2000..Here we describe the current efforts to identify and characterize the large numbers of SNPs required and discuss the practicalities of association studies for the identification of genes involved in complex traits...
- Methods to detect selection in populations with applications to the humanM Kreitman
Department of Ecology and Evolution, University of Chicago, Chicago, Illinois 60637, USA
Annu Rev Genomics Hum Genet 1:539-59. 2000..The range of plausible alternatives to selection will become better defined, however, as additional population genetic data sets become available, allowing better null models to be constructed...
- The complex relationship of genetics, groups, and health: what it means for public healthEllen Wright Clayton
Center for Genetics and Health Policy, Vanderbilt University, USA
J Law Med Ethics 30:290-7. 2002
- American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardationLisa G Shaffer
Health Research and Education Center, Washington State University Spokane, WA, USA
Genet Med 7:650-4. 2005..It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline...
- Comparative genomic hybridizationDaniel Pinkel
Comprehensive Cancer Center, Department of Laboratory Medicine, University of California, San Francisco, California 94143, USA
Annu Rev Genomics Hum Genet 6:331-54. 2005..In this review we discuss the state of the art of array CGH and its applications in medical genetics and cancer, emphasizing general concepts rather than specific results.
- Genetic associations: false or true?John P A Ioannidis
Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine and Biomedical Research Institute, Foundation for Research and Technology Hellas, Ioannina, Greece
Trends Mol Med 9:135-8. 2003..However, a sizeable proportion of identified genetic associations are probably true. Meta-analysis, a rigorous, comprehensive, quantitative synthesis of all the available data, might help us to separate the true from the false...
- Genetics. The science and business of genetic ancestry testingDeborah A Bolnick
Department of Anthropology, University of Texas, Austin, TX 78712, USA
Science 318:399-400. 2007
- Use of array-based technology in the practice of medical geneticsMelanie Manning
Department of Pathology, Stanford University School of Medicine, Stanford, California, USA
Genet Med 9:650-3. 2007..We discuss the utility and limitations of using this technology in the evaluation of individuals with mental retardation and malformations, citing the existing literature...
- Establishing the essential nursing competencies for genetics and genomicsJean Jenkins
National Human Genome Research Institute, NIH, Building 31, RM 4B09, Bethesda, MD 20892 2152, USA
J Nurs Scholarsh 39:10-6. 2007....
- Two lessons from the interface of genetics and medicineAnthony C Allison
SurroMed, Menlo Park, California 94025, USA
Genetics 166:1591-9. 2004
- Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variationMark D Shriver
Penn State University, University Park, Pennsylvania, USA
Hum Genomics 2:81-9. 2005....
- Concern for families and individuals in clinical geneticsM Parker
Ethox Centre, University of Oxford, Oxford, UK
J Med Ethics 29:70-3. 2003..Geneticists are likely to continue to be required to make moral judgments in the resolution of such tensions and may find it useful to have access to ethics training and support...
- Clinical epidemiological quality in molecular genetic research: the need for methodological standardsS T Bogardus
Department of Medicine, Yale University School of Medicine, New Haven, Conn 06504, USA
JAMA 281:1919-26. 1999..A genetic basis has been identified for many medical conditions and some molecular tests have been commercialized. However, little attention has been given to the quality of clinical epidemiology in molecular studies...
- Initial sequencing and analysis of the human genomeE S Lander
Whitehead Institute for Biomedical Research, Center for Genome Research, Cambridge, Massachusetts 02142, USA
Nature 409:860-921. 2001..We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence...
- Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disabilityJohn B Moeschler
Dartmouth Medical School and Children s Hospital at Dartmouth, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire 03756, USA
Curr Opin Neurol 21:117-22. 2008....
- Genetics education for health professionals: strategies and outcomes from a national initiative in the United KingdomPeter A Farndon
NHS National Genetics Education and Development Centre, Morris House, c o Birmingham Women s Hospital, Edgbaston, Birmingham, UK
J Genet Couns 17:161-9. 2008..The engagement of national policy, regulatory and professional bodies is vital (www.geneticseducation.nhs.uk)...
- Medical genetics in Zulia, a State of VenezuelaSandra González-Ferrer
Unit of Medical Genetics, Faculty of Medicine, Zulia University, Maracaibo, Venezuela
Community Genet 7:153-6. 2004..to 12,000 families, and has been responsible for undergraduate and postgraduate education in human and medical genetics. Prenatal diagnosis is performed at the Unit and a private practice group, the most frequent referral reason ..
- Primer on medical genomics. Part VIII: Essentials of medical genetics for the practicing physicianRegina E Ensenauer
Department of Medical Genetics, Mayo Clinic, Rochester, Minn 55905, USA
Mayo Clin Proc 78:846-57. 2003..Until recently, medical genetics was considered a specialty of minor practical relevance...
- Internet resources in Medical GeneticsRoberta A Pagon
University of Washington, Seattle, Washington, USA
Curr Protoc Hum Genet . 2006....
- The new genetics and its consequences for family, kinship, medicine and medical geneticsKaja Finkler
Department of Anthropology, University of North Carolina, Chapel Hill, CB3115 Alumni Building, Chapel Hill, NC 27514, USA
Soc Sci Med 57:403-12. 2003..We explore the degree to which medical genetics places the patient in a double bind between the qualitative certainty and quantitative uncertainty of genetic ..
- Competences, education and support for new roles in cancer genetics services: outcomes from the cancer genetics pilot projectsCatherine Bennett
NHS National Genetics Education and Development Centre, Morris House, c o Birmingham Women s Hospital, Edgbaston, Birmingham, B15 2TG, UK
Fam Cancer 6:171-80. 2007..This represents a current resource gap that will be of concern to cancer networks and a challenge to providers of educational resources and regional genetics services...
- Genetics and quality of lifeJeff A Sloan
Department of Health Science Research, Mayo Clinic, Rochester, Minnesota, USA
Curr Probl Cancer 30:255-60. 2006
- Challenges of translating genetic tests into clinical and public health practiceWolf H Rogowski
Helmholtz Center Munich, German Research Center for Environmental Health, Ingolstadter Landstrasse 1, Neuherberg 85764, Germany
Nat Rev Genet 10:489-95. 2009..We discuss the means to achieve an accelerated translation research agenda that is conducted in a reasonable, fair and efficient manner...
- DNA variations in human and medical genetics: 25 years of my experienceYusuke Nakamura
Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
J Hum Genet 54:1-8. 2009....
- Genetics, individuality, and medicine in the 21st centuryDavid Valle
McKusnick Nathan Institute of Genetic Medicine, Departmentof Pediatrics, The Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, 21205 2185, USA
Am J Hum Genet 74:374-81. 2004
- Implications of the human genome for understanding human biology and medicineG Subramanian
Celera Genomics, 45 W Gude Dr, Rockville, MD 20850, USA
JAMA 286:2296-307. 2001..In addition, we show how this information lays the foundations for ongoing and future endeavors that will revolutionize biomedical research and our understanding of human health...
- Report of Banbury Summit meeting on training of physicians in medical genetics, October 20-22, 2004Bruce R Korf
University of Alabama at Birmingham, Birmingham, AL, USA
Genet Med 7:433-8. 2005
- A tutorial on statistical methods for population association studiesDavid J Balding
Department of Epidemiology and Public Health, Imperial College, St Marys Campus, Norfolk Place, London W2 1PG, UK
Nat Rev Genet 7:781-91. 2006..My goal is to outline the key methods with a brief discussion of problems (population structure and multiple testing), avenues for solutions and some ongoing developments...
- Education in medical genetics for physicians: GermanyJorg Schmidtke
Hannover Medical School, Hannover, Germany
Community Genet 9:235-9. 2006..at the end of the relevant section at the undergraduate level include very few questions related to medical genetics, and particularly few in subjects such as pathology, internal medicine and gynaecology and obstetrics...
- Education in medical genetics for non-genetic health care providers in SwedenKarin Henriksson
Department of Clinical Genetics, University Hospital, Lund, Sweden
Community Genet 9:240-5. 2006..Moreover, with regard to post-graduate education, it is almost absent. There is a need to improve education and training in genetics for all health care professionals to meet the expected increase in genetic issues in clinical medicine...
- Empowering primary care health professionals in medical genetics: how soon? How fast? How far?K Greendale
Genetics Education and Information Program, Bureau of Chronic Disease Services, New York State Department of Health, USA
Am J Med Genet 106:223-32. 2001..Because of a perceived lack of medical genetics professionals, it is generally believed that primary health care providers (PCPs) will need to assume ..
- Human genetics: Dr Watson's base pairsMaynard V Olson
Nature 452:819-20. 2008
- Minors and informed consent in carrier testing: a survey of European clinical geneticistsP Borry
Centre for Biomedical Ethics and Law, Katholieke Universiteit Leuven, Leuven, Belgium
J Med Ethics 34:370-4. 2008..A study was made of attitudes of clinical geneticists regarding the age at which minors should be allowed to undergo a carrier test and the reasons they provide to explain their answer...
- Essentially Yours: The Protection of Human Genetic Information in Australia--the impact on clinical practice and the 'new genetics'Ronald J A Trent
University of Sydney, Australia
Univ N S W Law J 26:807-12. 2003
- Applications of genomic medicine in endocrinology and post-genomic endocrine researchConstantine A Stratakis
Heritable Disorders Branch, Developmental Endocrinology Branch, DEB, National Institute of Child Health and Human Development NICHD, National Institutes of Health NIH, Bethesda, MD 20892, USA
Hormones (Athens) 4:38-44. 2005..In the post-genomic, translational Medicine, Endocrinology once again could help us to understand cellular regulation and pathophysiology and to design new treatments...
- Ethical obligations and counseling challenges in cancer geneticsWylie Burke
Department of Medical History and Ethics, University of Washington, Box 356120, 1959 NE Pacific, Room A204, Seattle, WA 98195 7120, USA
J Natl Compr Canc Netw 4:185-91. 2006Cancer genetics is creating new practice opportunities in medical genetics, oncology, and primary care...
- [Human genome project: a federator program of genomic medicine]S Sfar
Laboratoire d Immuno Oncologie Moleculaire, Faculte de medecine de Monastir, Avenue Avicenne, Monastir, Tunisia
Pathol Biol (Paris) 56:170-5. 2008..The pharmacogenomics could give rise to a new generation of highly effective drugs that treat causes, not just symptoms...
- Personalized medicine in the era of genomicsWylie Burke
Center for Genomics and Healthcare Equality and Department of Medical History and Ethics, University of Washington, Seattle, WA 98195, USA
JAMA 298:1682-4. 2007
- Genetics of common disease: a primary care priority aligned with a teachable moment?W Gregory Feero
National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland 20892 2152, USA
Genet Med 10:81-2. 2008
- Genetics and genomics in the practice of medicineVictoria A Joshi
Harvard Medical School, Partners HealthCare Center for Genetics and Genomics, Boston, Massachusetts, USA
Gastroenterology 134:1284-8. 2008
- Medical ethics for the genome world: a paper from the 2007 William Beaumont hospital symposium on molecular pathologyKelly E Ormond
Department of Genetics, Stanford University, Stanford, California, USA
J Mol Diagn 10:377-82. 2008b>Medical genetics, and in particular the areas of genetic testing and genetic counseling, are replete with ethical and social issues...
- International genome project launchedErika Check Hayden
Nature 451:378-9. 2008
- Understanding genetics: a primer for occupational health practiceLynette Wright
Nell Hodgson Woodruff School of Nursing, Emory University, Atlanta, GA, USA
AAOHN J 53:534-42; quiz 543-4. 2005....
- Genome studies: genetics by numbersMonya Baker
Nature 451:516-8. 2008
- Occupational and environmental health in the 21st century: the new frontier in genetics and disease preventionD Gary Rischitelli
Oregon Health and Science University, Portland, USA
AAOHN J 53:522-8. 2005..The public must be educated about the potential promise, as well as the threats, posed by emerging genetic technologies...
- Problems with genome-wide association studiesScott M Williams
Science 316:1840-2. 2007
- A 60-year tale of spots, maps, and genesVictor A McKusick
Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 4922, USA
Annu Rev Genomics Hum Genet 7:1-27. 2006..The origins of medical genetics as a clinical specialty, of the Human Genome Project, of genomics (including the term), and of HUGO are ..
- A historical comparison of the development of specialist genetic nursing in the United Kingdom and JapanHeather Skirton
Faculty of Health and Social Work, University of Plymouth, Taunton, UK
Nurs Health Sci 8:231-6. 2006..By comparison, in Japan, developments in genetic nursing have occurred over a shorter period of time, but minimum standards of competence already have been agreed upon...
- Functional genomics and its implications for molecular medicineUlrich Broeckel
Department of Medicine, Medical College of Wisconsin, and Department of Pediatrics, Children s Hospital of Wisconsin, 9000 W Wisconsin Avenue, Milwaukee, WI 53226, USA
Pediatr Clin North Am 53:807-16, vii. 2006..Ultimately how the unique genetic signature of an individual influences the risk and prognosis of disease will be the basis for individualized medicine in the years to come...
- Problems with genome-wide association studiesDaniel Shriner
Science 316:1840-2. 2007
- [Genetic diagnosis in medicine. An overview of basic concepts and applications]J Schmidtke
Medizinische Hochschule Hannover, Carl Neuberg Strasse 1, 30625 Hannover, BRD
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 49:982-8. 2006..Data have been calculated for the years 1996- 2002. In this time interval, the number of individuals undergoing genetic testing doubled approximately every three years. The total number in 2002 can be estimated at 220,000...
- Genomics for health in preconception and prenatal periodsSiobhan Dolan
Obstetrics and Gynecology and Women s Health Albert Einstein College of Medicine, Montefiore Medical Center, Belfer 501, 1300 Morris Park Avenue, Bronx, NY 10461, USA
J Nurs Scholarsh 39:4-9. 2007..To review and report changes in genomic-based knowledge and care during the preconception and prenatal periods...
- Genetic risk. With new disease genes, a bounty of questionsJennifer Couzin
Science 319:1754-5. 2008
- The genome gets personal--almostW Gregory Feero
The National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 2152, USA
JAMA 299:1351-2. 2008
- [Linkage disequilibrium in the human genome and its exploitation]N Kharrat
Unité de Bio informatique, Centre de Biotechnologie de Sfax, B P K, 3038 Sfax, Tunisie
Arch Inst Pasteur Tunis 82:9-21. 2005....
- Genetics in critical care: a toolboxTheresa A Beery
College of Nursing, University of Cincinnati, Cincinnati, OH 45221 0038, USA
Crit Care Nurs Clin North Am 20:139-48,v. 2008..An appreciation of genetics (the study of heredity) and genomics (the study of the interaction of genes within an organism) has an important place in the knowledge base of every critical care clinician...
- Overview of linkage analysis in complex traitsM A Pericak-Vance
Duke University Medical Center, Durham, North Carolina, USA
Curr Protoc Hum Genet . 2001..The term complex genetic disease refers to a trait phenotype with an unknown mode of inheritance.The goal of this unit is to instruct the reader on the general approaches now available for mapping complex disease...
- Genetic discrimination. Long-awaited genetic nondiscrimination bill headed for easy passageConstance Holden
Science 316:676. 2007
- Genome-wide association. Closing the net on common disease genesJennifer Couzin
Science 316:820-2. 2007
- Medicine. The future of personal genomicsAmy L McGuire
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA
Science 317:1687. 2007
- Genetic profiling of newborns: ethical and social issuesBrenda Almond
Social Values Research Centre, University of Hull, Hull HU6 7RX, UK
Nat Rev Genet 7:67-71. 2006....
- Primer on medical genomics. Part III: Microarray experiments and data analysisAyalew Tefferi
Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, Minn 55905, USA
Mayo Clin Proc 77:927-40. 2002..The current review should serve as an introduction to the subject for clinician investigators, physicians and medical scientists in training, practicing clinicians, and other students of medicine...
- [Do we know our heritage? The Danish Society of Medical Genetics]Torben A Kruse
Afdeling KKA, Odense Universitetshospital, DK 5000 Odense C
Ugeskr Laeger 165:1244. 2003
- Integration of genetics into medical practiceBruce R Korf
Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Hugh Kaul Human Genetics Bldg 230, Birmingham, AL 35294 0024, USA
Growth Horm IGF Res 14:S146-9. 2004..Throughout most of the 20th century, medical genetics has focused on rare monogenic and chromosomal disorders...
- The "new genetics" and clinical practiceRonald J A Trent
Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Missenden Road, Camperdown, NSW 2050, Australia
Med J Aust 178:406-9. 2003..From the patients' and families' perspective, the new genetics will best be implemented if a planned approach is adopted in the ordering of DNA tests and the associated counselling and support processes...
- The clinical geneticist and the "new genetics"Eric A Haan
SA Clinical Genetics Service, Women s and Children s Hospital, 72 King William Road, North Adelaide, SA 5006
Med J Aust 178:458-62. 2003..The Internet will increasingly be a key source of information about genetic disorders for patients, their families and healthcare professionals...
- Genomics in medicine: hype or real promise? Interview by Ed RabinowitzSteve Jones
Healthplan 44:20-4. 2003
- [Application of DNA chip technology to biomedical research]W Y Park
Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Korea
Exp Mol Med 33:113-24. 2001..We can check the multiple molecular markers for diagnosis, prediction or prognosis of specific diseases. Data from microarray will provide huge amounts of experssion profile, which might induce the transformation of biomedical research...
- Genetic research: mining for medical treasuresCathryn Delude
FASEB J 17:787. 2003
- Role of the geneticist in testing and counseling for inherited thrombophiliaLaura M Reich
Vascular Medicine Program, University of Minnesota Medical School, Minneapolis, Minnesota, USA
Genet Med 5:133-43. 2003....
- [Genetic predisposition -- clinical consequences]Hj Müller
Ther Umsch 60:433-4. 2003
- Attitudes toward genetic testing: gender, role, and disciplineLaurinda B Harman
Department of Health Information Management, College of Allied Health Professions, Temple University, Philadelphia, PA 19140, USA
Top Health Inf Manage 24:50-8. 2003..Statistical analyses revealed that discipline strongly influenced decision making while gender rarely did. In addition, differences in attitudes were also found based on parental and professional roles...
- From genomes to cures: the start of a long journeyAndrew Moore
EMBO, Heidelberg, Germany
Trends Mol Med 8:104-5. 2002..The EMBO/EMBL Science and Society Conference 'From Genomes to Cures', was held in Heidelberg, Germany, 16-18 November 2001...
- Polymorphic sequence variants in medicine: a challenge and an opportunityShirley V Hodgson
St George s Hospital Medical School, and St George s Hospital, London
Clin Med 3:260-4. 2003..The development of Biobank initiatives to promote the detection and evaluation of important polymorphic variants highlights the need to ensure appropriate confidentiality guarantees and continuing debate about the ethical issues...
- Genetic servicesD Donnai
University of Manchester and Regional Genetic Service, Manchester, UK
Clin Genet 61:1-6. 2002....
- A general approach to genetic counselingKatie S Plunkett
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Obstet Gynecol Clin North Am 29:265-76. 2002..Given the nature of genetic information, multiple sessions may be necessary to ensure that the patient understands the risks involved in his or her particular situation...
- [The road toward molecular comprehension of diseases]Ma Teresa Tusie Luna
Unidad de Biología Molecular y Medicina Genómica, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Instituto de Investigaciones Biomédicas de la UNAM
Rev Invest Clin 55:143-7. 2003
- Moral Distress and Suffering of Genetics ProfessionalsGail Geller; Fiscal Year: 2007..Such an intervention would be aimed at renewing commitment to the profession and improving patient care. [unreadable] [unreadable] [unreadable]..
- PUBLICIZING GENETIC DISCOVERIES--THE IMPACT OF THE MEDIAGail Geller; Fiscal Year: 2002....
- A Vision of Hope: Integration of Palliative Care in Chronic Pediatric DiseasesCynda H Rushton; Fiscal Year: 2010....
- Using Third-Party Data in Pedigree and Subgroup AnalysesMORRIS FOSTER; Fiscal Year: 2005..Finally, we will examine the implications of third-party information from the perspectives of study participants. We will conduct this project in the contexts of actual clinical populations. ..
- AFRICAN AMERICAN COMMUNITY REVIEW OF GENETIC RESEARCHMORRIS FOSTER; Fiscal Year: 2005..We anticipate that different levels of community review will be applicable to different kinds of local and nested communities. ..
- EVALUATING USE OF GENETIC INFORMATION: A MODEL PROCESSWylie Burke; Fiscal Year: 2003..5. To conduct an evaluation of the model process within a large health care system. ..
- African-American Haplotype Map Engagement and Follow-upMORRIS FOSTER; Fiscal Year: 2004..abstract_text> ..
- Toward Consensus on Benefit Sharing in Genetics ResearchJon Merz; Fiscal Year: 2002..The goal is not to find consensus, but to identify key issues and generate ideas to best satisfy the interests and needs of all involved parties. ..
- MODELING DNA DIVERSITY IN CARDIOVASCULAR HEALTH/DISEASEKenneth Weiss; Fiscal Year: 2001..These studies will provide an unprecedented ..
- GENETIC EPIDEMIOLOGY OF HYPERTENSION: GENOMIC CORESAravinda Chakravarti; Fiscal Year: 2004..The resulting synthesis of ideas and amassed data permits rigorous hypothesis testing not otherwise possible and will hasten understanding of the previously elusive genetic variation responsible for disease risk. ..
- Parallel ComputerJason Moore; Fiscal Year: 2004..This resource will make it possible to carry out computationally intensive biomedical investigations otherwise not feasible thus significantly increasing the rate of scientific discovery in a variety of biomedical disciplines. ..
- Statistical Genetic Methods for Cancer Gene StudiesSusan Slager; Fiscal Year: 2006..abstract_text> ..
- Genetics Basis of Trauma RecoveryJason Moore; Fiscal Year: 2009..abstract_text> ..
- Human Genomic Polymorphisms And HaplotypesAravinda Chakravarti; Fiscal Year: 2008..They have demonstrated experience and expertise in genomic variation technology and their applications to human disease and population genetics and DNA chip technology. ..
- Gordon Research Conferences: Collagen 2003, 2005, 2007Peter Byers; Fiscal Year: 2003..The funds will be used to partially defray conferee travel expenses and registration fees for invited speakers and for young members of the research community. ..
- The Challenges of Autosomal Recessive and Other New Forms of OIPeter Byers; Fiscal Year: 2008..It also will facilitate identification of new OI genes, identify new paths of research to benefit patients, and increase progress of the Linked Clinical Research Centers. [unreadable] [unreadable] [unreadable] [unreadable]..
- Human Genomic Polymorphism in AutismAravinda Chakravarti; Fiscal Year: 2006..In this proposal, we carry on the tradition from the previous funding cycle of developing novel genomic technologies that are of direct relevance to the genetic dissection of complex neuropsychiatric traits. [unreadable] [unreadable]..
- IDENTIFICATION AND EXPRESSION OF SKIN SPECIFIC GENESPeter Byers; Fiscal Year: 2002....
- Mild Ol - Toward Better Understanding and TreatmentPeter Byers; Fiscal Year: 2004..abstract_text> ..
- New Research Strategies in Osteogenesis ImperfectaPeter Byers; Fiscal Year: 2006..unreadable] [unreadable] [unreadable] [unreadable]..
- GENETIC ANALYSIS OF HIRSCHSPRUNG DISEASEAravinda Chakravarti; Fiscal Year: 2008..The long-term objective of this study is to understand the molecular genetic basis of HSCR. More generally, our aim is to develop a paradigm for sequence-based biology in complex, human diseases. [unreadable] [unreadable]..
- GENETIC ARCHITECTURE OF PLASMA T-PA AND PAI-1Jason Moore; Fiscal Year: 2004..This collaborative proposal provides a robust mechanism for highly focused translational research in the molecular genetics and biology of the role of the fibrinolytic system in arterial and cerebral thrombosis. ..
- Cysteine, Related Gene Variants and Breast Cancer RiskWalter C Willett; Fiscal Year: 2010....
- Academic Industry Relationships Among IRB MembersEric Campbell; Fiscal Year: 2005..Results will be disseminated through publications in peer-reviewed journals and presentations at scientific meetings. ..
- Effect of HIV-1 Vpr on Basic Cellular Functions (II)Richard Zhao; Fiscal Year: 2007..abstract_text> ..
- The Molecular Basis of Syndromic Retinitis PigmentosaSusan Hayflick; Fiscal Year: 2007..abstract_text> ..
- MECHANISM AND INSTABILITY OF SEGMENTAL DUPLICATIONSEvan E Eichler; Fiscal Year: 2010....
- PAHs: Balance of Detoxication vs Metabolic ActivationDaniel Nebert; Fiscal Year: 2009..dissemination of ingested BaP and will be informative in clinical studies in which we would determine which haplotypes of these three human genes might be associated with resistance vs. sensitivity to PAH-induced toxicity and cancer. ..
- GENETICS OF AD PARTIAL EPILEPSY WITH AUDITORY FEATURESRuth Ottman; Fiscal Year: 2007..abstract_text> ..
- STATISTICAL METHODS FOR ANALYSIS OF FAILURE TIME DATARebecca Betensky; Fiscal Year: 2009..The methods may lead to faster discovery of cancer genes and effective treatments and to better understanding of disease progression through more efficient use of resources. ..
- Dissecting the Aggregation of AMA in Families of PBC PatientsKonstantinos Lazaridis; Fiscal Year: 2008..If successful, our effort will shed light toward better understanding of the genetic predisposition to PBC. [unreadable] [unreadable]..
- Finding the Mouse Disorganization GeneJoseph Nadeau; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- Genetics and Stigma: The Role of Mass MediaJo Phelan; Fiscal Year: 2009..Open-ended responses will be coded quantitatively to assess deviations in recall from the content of the article as well as attitudinal reactions. ..
- Prognostic Markers for Primary Cutaneous MelanomaDaniel Pinkel; Fiscal Year: 2006....
- Data Sharing & Data Withholding Among Trainees in Scien*Eric Campbell; Fiscal Year: 2002..Hypotheses will be tested using univariate and multivariate statistical techniques. Results will be disseminated through publications in peer-reviewed journals and presentations at scientific meetings. ..
- The Southern California Genotyping ConsortiumNelson Freimer; Fiscal Year: 2004..We also envision that the proposed consortium will foster new collaborations within and between the constituent institutions. ..
- LONG QT SYNDROME--GENETIC STUDIESArthur Moss; Fiscal Year: 2002....
- GENETICS OF SPECIATION IN DROSOPHILAEMANUEL HEY; Fiscal Year: 2001....
- Cancer Virus Discovery by Computational SubtractionMatthew Meyerson; Fiscal Year: 2005..These include auto-immune diseases and inflammatory diseases, as well as uncharacterized epidemics, whether natural or bio-terrorist in origin. ..
- An Irish Affected Sib Pair Study of Alcohol DependenceKenneth Kendler; Fiscal Year: 2005..To conduct this project we have assembled a team of experts in clinical assessment, statistical genetics and molecular genetics...
- Relationship of Morbidity and Mortality Between SpousesNicholas Christakis; Fiscal Year: 2006....
- POPULATION BASED STUDY OF HOSPICE USE AND CONSEQUENCESNicholas Christakis; Fiscal Year: 2001....
- White Matter Integrity in Familial SchizophreniaLynn DeLisi; Fiscal Year: 2006..Since this hypothesis has not been tested specifically in this way and is speculative, but if correct, may have a great impact on future research, we are using the R21 exploratory mechanism. ..
- Germ Line Interventions and Human Research EthicsRebecca Dresser; Fiscal Year: 2003..The project will yield two manuscripts, one aimed at a general audience and a more detailed monograph for groups asked to evaluate the ethical and regulatory acceptability of proposals to conduct germ line research in humans. ..
- GENETICS OF THE METABOLIC SYNDROME IN JAPANESE AMERICANSMelissa Austin; Fiscal Year: 2002....
- DFNA1 IN INHERITED HEARING LOSSMary Claire King; Fiscal Year: 2001....
- The Interaction of Thyroid Hormone and Wnt Signaling Pathways in the Growth PlateROBERT TRACY BALLOCK; Fiscal Year: 2010....
- Preventing the IncidentalomeIsaac S Kohane; Fiscal Year: 2010..Evidence supporting this hypothesis will both serve as an important caution in the use of genetic testing and will also demonstrate the value of population studies to find the broader clinical significance of genetic mutations. ..
- CYTOKINE SIGNALING IN RENAL FIBROSISErwin Bottinger; Fiscal Year: 2009..abstract_text> ..
- Reading disability QTLs: pooled DNA on microarraysRobert Plomin; Fiscal Year: 2008..Identifying genes associated with reading disability will eventually lead to better diagnoses, individually tailored treatments, and interventions that can prevent the development of reading disability. ..
- Building a Latino admixture map & pilot study to find Type 2 Diabetes riskDavid Reich; Fiscal Year: 2007..The study will also enable larger admixture mapping studies with many thousands of patients with Type 2 Diabetes, which we would like to pursue both in U.S. Latino and in Latin American populations. [unreadable] [unreadable] [unreadable]..
- Long Term Outcomes in ICU Patients: Delirium & Apolipoprotein ESheila Alexander; Fiscal Year: 2009..This would likely lead to decreased time in the ICU and hospital. ..
- Academic Industry Relationships in GeneticsEric Campbell; Fiscal Year: 2006..Results will be disseminated through publications in peer-reviewed journals and presentations at scientific meetings. ..
- Breast Cancer Genomics in a Founder PopulationMary Claire King; Fiscal Year: 2008..Discovery of additional breast cancer genes of moderate penetrance in the AJ population will be important to women both in this population and generally. ..
- IMMUNOBIOLOGY OF AGING IN GENETICALLY ALTERED MICEWarren Ladiges; Fiscal Year: 2004....
- Roles of TBX3 and its Isoform, TBX3+2a, in Breast CancerTaosheng Huang; Fiscal Year: 2005..By working with both an animal model and tissue acquired from breast surgeries, the proposed research aims to optimize the clinical relevance of the work. ..
- Statistical Methods for Analysis of Array CGH DataRebecca Betensky; Fiscal Year: 2007..Sound statistical methods are required for efficient and valid analyses of these important data. [unreadable] [unreadable]..
- Gene Polymorphisms and Kidney Transplant OutcomeWilliam Oetting; Fiscal Year: 2005..abstract_text> ..
- Statistical tests for association with X-linked genesEden Martin; Fiscal Year: 2007..Thus, the statistical methods and software developed through this grant will have an immediate application in gene mapping studies, and will help researchers identify and localize these important X-linked genes. ..
- Design and analysis of adaptive multistage genetic association studiesEdwin van den Oord; Fiscal Year: 2010..The goal of this project is to develop a flexible framework for designing these studies in a cost-effective way and optimize subsequent replication efforts. ..
- OPTIMIZATION OF LASER MEDIATED CARTILAGE RESHAPINGBrian Wong; Fiscal Year: 2003..The MCSDA will provide the applicant with the fundamental skills needed to become an independent investigator in biomedical optics, and allow further development as a basic scientist. ..
- NonInvasive Optical Imaging of Vocal Cord MicrostructureBrian Wong; Fiscal Year: 2004..Application of OCT to microlaryngeal surgery may reduce iatrogenic phonatory disability by reducing trauma to delicate structures that accompanies conventional techniques. ..
- The ethics of consent for the public release of potentially identifiable DNA dataAmy McGuire; Fiscal Year: 2009..Moreover, it will increase our understanding of participants'judgments and attitudes toward data sharing, which will improve the overall conduct of biomedical research, build public trust, and foster research participation. ..
- Attenuation of Estrogen-Induced Cell ProliferationDOUGLAS WENDELL; Fiscal Year: 2003..Aim #2 is to test the hypothesis that the BN allele of Edpm3 attenuates a component of paracrine growth control. Aim #3 is to identify growth regulatory factors whose estrogen-dependent expression is affected by Edpm3 genotype. ..