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.

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.

National Institute of Health (NIH)
Institutional National Research Service Award (T32)
Project #
Application #
Study Section
Special Emphasis Panel (ZGM1)
Program Officer
Haynes, Susan R
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
Makaryan, Vahagn; Rosenthal, Elisabeth A; Bolyard, Audrey Anna et al. (2014) TCIRG1-associated congenital neutropenia. Hum Mutat 35:824-7
Yu, Lan; Bennett, James T; Wynn, Julia et al. (2014) Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet 51:197-202
Shah, Sohela; Schrader, Kasmintan A; Waanders, Esmé et al. (2013) A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet 45:1226-31
Dorschner, Michael O; Amendola, Laura M; Turner, Emily H et al. (2013) Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet 93:631-40
Timms, Andrew E; Dorschner, Michael O; Wechsler, Jeremy et al. (2013) Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families. JAMA Psychiatry 70:582-90
Mitchell, Anna L; Judis, LuAnn M; Schwarze, Ulrike et al. (2012) Characterization of tissue-specific and developmentally regulated alternative splicing of exon 64 in the COL5A1 gene. Connect Tissue Res 53:267-76
Hughey, Jeffery R; Du, Meijun; Li, Qiliang et al. (2012) A search for ? thalassemia mutations in 4000 year old ancient DNAs of Minoan Cretans. Blood Cells Mol Dis 48:7-10
Bachmann-Gagescu, Ruxandra; Hisama, Fukie Marie; Yuen, Amy Lawson (2011) Myhre syndrome with ataxia and cerebellar atrophy. Clin Dysmorphol 20:156-9
Rosenthal, Elisabeth A; Ronald, James; Rothstein, Joseph et al. (2011) Linkage and association of phospholipid transfer protein activity to LASS4. J Lipid Res 52:1837-46
Murray, Mitzi L; Cerrato, Felecia; Bennett, Robin L et al. (2011) Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions. Genet Med 13:998-1005

Showing the most recent 10 out of 39 publications