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 Medical Genetics Residency. The Program offers comprehensive research and continuing didactic training in human genetics and genomics for physicians following completion of residency training, and for Ph.D.'s in the basic sciences who seek a broader and translational appreciation of human genetics and genome sciences. 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. As they progress, trainees are encouraged to seek individual fellowship awards. The Program emphasizes recruitment of underrepresented minority fellows and disabled individuals as well as ongoing instruction in the responsible conduct of research. The fifty-two participating faculty are primarily drawn from the two Medical Genetics units in the Departments of Medicine and Pediatrics, but also consist of productive and talented mentors performing relevant research and teaching in other departments. Although most of our trainees are physicians who seek clinical and research training in medical genetics, we have also attracted and trained physicians from other specialties (Anesthesiology, Cardiology, Neurology, Psychiatry, and Surgery) and Ph.D. scientists. We have also launched a training track in the Department of Medicine for Internal Medicine-Medical Genetics, and have agreement from the leadership of the Department of Pediatrics to apply for a combined 4-year Pediatrics-Medical Genetics residency (see letter of support in the Appendix). With these promising new sources of trainees, and the increasing integration of genetics into all medical specialties, we are requesting an increase from four to six funded positions per year, which will allow us to support three (rather than two) trainees for two years each. The Program continues in its successful mission of launching independent, research-focused careers in medical genetics and genomics.

Public Health Relevance

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 and genomics.

National Institute of Health (NIH)
National Institute of General Medical Sciences (NIGMS)
Institutional National Research Service Award (T32)
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Special Emphasis Panel (ZGM1)
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Xu, Jianhua
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University of Washington
Internal Medicine/Medicine
Schools of Medicine
United States
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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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