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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.
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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.
- ↑ 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.
