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)
Project #
Application #
Study Section
Special Emphasis Panel (ZGM1)
Program Officer
Bender, Michael T
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Washington
Internal Medicine/Medicine
Schools of Medicine
United States
Zip Code
Tokita, Mari; Kennedy, Scott R; Risques, Rosa Ana et al. (2016) Werner syndrome through the lens of tissue and tumour genomics. Sci Rep 6:32038
Bengtsson, Niclas E; Seto, Jane T; Hall, John K et al. (2016) Progress and prospects of gene therapy clinical trials for the muscular dystrophies. Hum Mol Genet 25:R9-17
Tokita, Mari J; Sybert, Virginia P (2016) Postnatal outcomes of prenatally diagnosed 45,X/46,XX. Am J Med Genet A 170A:1196-201
Byers, Heather M; Beatty, Christopher W; Hahn, Si Houn et al. (2016) Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant. Pediatr Neurol 60:79-82
Henderson, Morgan L; Kreuzer, Kenneth N (2015) Functions that Protect Escherichia coli from Tightly Bound DNA-Protein Complexes Created by Mutant EcoRII Methyltransferase. PLoS One 10:e0128092
Amendola, Laura M; Dorschner, Michael O; Robertson, Peggy D et al. (2015) Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res 25:305-15
Byers, Heather M; Bennett, Robin L; Malouf, Emily A et al. (2015) Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures. JIMD Rep :
Rosenthal, Elisabeth; Blue, Elizabeth; Jarvik, Gail P (2015) Next-generation gene discovery for variants of large impact on lipid traits. Curr Opin Lipidol 26:114-9
Underhill, Hunter R; Golden-Grant, Katie; Garrett, Lauren T et al. (2015) Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging. J Magn Reson Imaging 42:1611-22
Tokita, Mari J; Chow, Penny M; Mirzaa, Ghayda et al. (2015) Five children with deletions of 1p34.3 encompassing AGO1 and AGO3. Eur J Hum Genet 23:761-5

Showing the most recent 10 out of 60 publications