The birth of the University of Washington School of Medicine in the early 1950's coincides with the discovery of the double helix structure of DNA. As a founding component, the Medical Genetics Training Program has kept apace of genetic advances and has served as the linchpin between the clinical and molecular sciences that has propelled this institution to a position of academic leadership. The Training Program's graduates have made outstanding contributions to the body of knowledge of genetic disease and occupy top faculty positions throughout the international medical genetics research community. The Medical Genetics Training Program is coordinated with the separately administered Medical Genetics Residency, which is the primary, but not the only, recruitment vehicle for fellows entering this Program. The Program offers comprehensive research and continuing didactic training in human genetics for physicians following completion of the residency in clinical genetics, and for Ph.D.'s in the basic sciences who seek a broader and translational appreciation of medical genetics. Training focuses on highly collaborative mentor-based, research laboratory experience and is complemented with courses, seminars, clinical conferences, a journal club, and participation in national meetings. The Program emphasizes recruitment of underrepresented minority fellows and has taken the lead in the university-wide instruction in the responsible conduct of research. The forty-one participating faculty are primarily drawn from the two Medical Genetics units in each of the Departments of Medicine and Pediatrics, but also consist of productive and talented mentors performing relevant research and teaching in other departments, most of whom have joint appointments with the Division of Medical Genetics in the Department of Medicine. Only about one half of the twenty-nine fellows participating in the Training Program in the most recent funding cycle, including all physicians who have completed the Medical Genetics Residency, have been supported through one of the four funded positions per year on this grant, necessitating a requested increase to six funded positions per year. As they progress, trainees are encouraged to seek individual fellowship awards. The Program continues in its successful mission of launching independent, research-focused careers in medical genetics.
Medical genetics is a specialty that spans clinical medicine and biomedical, translational research. It focuses on understanding the underlying genetic differences that cause human disability and diseases across the life span, and translating that knowledge into clinical testing and new treatments to improve human health. This program supports the training of the next generation of academic physicians and scientists in medical genetics.
| Chang, Irene J; Sun, Angela; Bouchard, Maryse L et al. (2018) Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants. Am J Med Genet A 176:1675-1679 |
| Collins, Christopher J; Chang, Irene J; Jung, Sunhee et al. (2018) Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots. Front Immunol 9:2756 |
| Byers, Heather M; Chen, Maida; Gelfand, Andrew S et al. (2018) Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions. Am J Med Genet A 176:1398-1404 |
| Bozarth, Xiuhua; Dines, Jennifer N; Cong, Qian et al. (2018) Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy. Am J Med Genet A 176:2733-2739 |
| Starr, Michelle C; Chang, Irene J; Finn, Laura S et al. (2018) COQ2 nephropathy: a treatable cause of nephrotic syndrome in children. Pediatr Nephrol 33:1257-1261 |
| Chang, Irene J; Adam, Margaret P; Jayadev, Suman et al. (2018) Novel pregnancy-triggered episodes of CAPOS syndrome. Am J Med Genet A 176:235-240 |
| Kow, Rebecca L; Sikkema, Carl; Wheeler, Jeanna M et al. (2018) DOPA Decarboxylase Modulates Tau Toxicity. Biol Psychiatry 83:438-446 |
| Matreyek, Kenneth A; Starita, Lea M; Stephany, Jason J et al. (2018) Multiplex assessment of protein variant abundance by massively parallel sequencing. Nat Genet 50:874-882 |
| Byers, Heather M; Mohnach, Lauren H; Fechner, Patricia Y et al. (2017) Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency. Am J Med Genet C Semin Med Genet 175:260-267 |
| Leppig, Kathleen A; Thiese, Heidi A; Carrel, David et al. (2017) Building a family network from genetic testing. Mol Genet Genomic Med 5:122-129 |
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