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Victor Almon McKusick was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its use for studying congenital diseases. He is well known for his studies of the Amish. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man (MIM) and its online counterpart Online Mendelian Inheritance in Man (OMIM). He is widely known as the "father of medical genetics".
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism.
Mary-Claire King is an American geneticist. She was the first to show that breast cancer can be inherited due to mutations in the gene she called BRCA1. She studies human genetics and is particularly interested in genetic heterogeneity and complex traits. She studies the interaction of genetics and environmental influences and their effects on human conditions such as breast and ovarian cancer, inherited deafness, schizophrenia, HIV, systemic lupus erythematosus and rheumatoid arthritis. She has been the American Cancer Society Professor of the Department of Genome Sciences and of Medical Genetics in the Department of Medicine at the University of Washington since 1995.
Charles Thomas Caskey, also known as C. Thomas Caskey, was an American internist who has been a medical Geneticist and biomedical researcher and entrepreneur. He was a Professor of Molecular and Human Genetics at Baylor College of Medicine, and served as editor of the Annual Review of Medicine from 2001 to 2019. He was a member of the editorial boards of the Proceedings of the National Academy of Sciences, Science, the Encyclopedia of Molecular Medicine and numerous other medical and scientific journals.
Aravinda Chakravarti is a human geneticist and expert in computational biology, and Director of the Center For Human Genetics & Genomics at New York University. He was the 2008 President of the American Society of Human Genetics. Chakravarti became a co-Editor-in-Chief of the journal Genome Research in 1995, and of the Annual Review of Genomics and Human Genetics' in 2005.
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Michael R. Hayden, is a Killam Professor of Medical Genetics at the University of British Columbia, the highest honour UBC can confer on any faculty member. Only four such awards have ever been conferred in the Faculty of Medicine. Dr. Hayden is also Canada Research Chair in Human Genetics and Molecular Medicine. Hayden is best known for his research in Huntington disease (HD).
Gonçalo Rocha Abecasis is a Portuguese American biomedical researcher at the University of Michigan, serves as Vice President & Chief Genomics and Data Science Officer at the Regeneron Genetics Center, and was chair of the Department of Biostatistics in the School of Public Health. He leads a group at the Center for Statistical Genetics in the Department of Biostatistics, where he is also the Felix E. Moore Collegiate Professor of Biostatistics and director of the Michigan Genomic Initiative. His group develops statistical tools to analyze the genetics of human disease.
David Benjamin Goldstein is an American human geneticist. Goldstein is founding Director of the Institute for Genomic Medicine at the Columbia University Medical Center, Professor of Genetics and Development and directs the genomics core of Epi4K and administrative cores of Epi4K with Dan Lowenstein and Sam Berkovic.
Yusuke Nakamura is a Japanese prominent geneticist and cancer researcher best known for developing Genome-Wide Association Study (GWAS). He is one of the world's pioneers in applying genetic variations and whole genome sequencing, leading the research field of personalized medicine.
John M. Opitz was a German-American medical geneticist and professor at the University of Utah School of Medicine. He is best known for rediscovering the concept of the developmental field in humans and for his detection and delineation of many genetic syndromes, several now known as the "Opitz syndromes" including Smith–Lemli–Opitz syndrome (SLOS), Opitz–Kaveggia syndrome (FGS1), Opitz G/BBB syndrome, Bohring–Opitz syndrome, and other autosomal and X-linked conditions. He is founder of the Wisconsin Clinical Genetics Center, the American Journal of Medical Genetics, and was a cofounder of the American College and American Board of Medical Genetics.
Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome. Some elective genetic and genomic tests require a physician to order the test to ensure that individuals understand the risks and benefits of testing as well as the results. Other DNA-based tests, such as a genealogical DNA test do not require a physician's order. Elective testing is generally not paid for by health insurance companies. With the advent of personalized medicine, also called precision medicine, an increasing number of individuals are undertaking elective genetic and genomic testing.
Amalia Dutra, Ph.D, is a Uruguayan-American genetic biologist known for being part of the team that mapped the human genome.
Jared C. Roach is an American biologist who invented the pairwise end sequencing strategy while a graduate student at the University of Washington.
Christine Patch is a nurse and genetic counsellor. She is a Principal Staff Scientist in Genomic Counselling in the Society and Ethics Research group, part of Wellcome Connecting Science, based on the Wellcome Genome Campus. She is also the Clinical Lead for Genetic Counselling at Genomics England, and a former President of the European Society of Human Genetics.
Human genetic clustering refers to patterns of relative genetic similarity among human individuals and populations, as well as the wide range of scientific and statistical methods used to study this aspect of human genetic variation.
Clair A. Francomano is an American medical geneticist and academic specializing in Ehlers–Danlos syndromes. She is Professor of Medical and Molecular Genetics at Indiana University.
Adebowale A. Adeyemo is a Nigerian physician-scientist and genetic epidemiologist specialized in genomics and cardiometabolic disorders. He is the deputy director and chief scientific officer of the Center for Research on Genomics and Global Health at the National Human Genome Research Institute.
Camptodactyly, tall stature, and hearing loss syndrome, also known as CATSHL syndrome, is a rare genetic disorder which consists of camptodactyly, tall height, scoliosis, and hearing loss. Occasionally, developmental delay and intellectual disabilities are reported. About 30 (live) people with the disorder have been recorded in medical literature to date ; 27 people from a four-generation Utah family and 2 brothers from consanguineous Egyptian parents. This disorder is caused by autosomal dominant missense mutations in the FGFR3 gene.
References
- 1 2 "Lynn B. Jorde, Ph.D. Faculty Page". University of Utah School of Medicine Website. University of Utah.
- ↑ "Lynn B. Jorde Biography". American Society of Human Genetics Website.
- ↑ Storrs, Carina (2010-01-20). "Endangered Species: Humans Might Have Faced Extinction 1 Million Years Ago". Scientific American.
- 1 2 Stewart, Kristen (2010-03-10). "Unraveling one family's genome". Salt Lake Tribune.
- 1 2 3 Daley, John (2011-02-15). "Scientific first with Utah family could unlock secrets of DNA and disease". Deseret News. Archived from the original on February 18, 2011.
- ↑ Maher, Brendan (5 October 2011). "Human genetics: Genomes on prescription". Nature. 478 (7367): 22–24. Bibcode:2011Natur.478...22M. doi: 10.1038/478022a . PMID 21979025.
