The objective of this program is to train physicians for careers in research-oriented academic medical genetics. The program combines research training, didactic exercises and clinical genetics training. The research activities include programs in clinical genetics, molecular genetics, developmental genetics, gene therapy, gene mapping and positional cloning, genomics and functional genomics formal and population genetics, genetic epidemiology, cytogenetics, biochemical genetics, pharmacogenetics, ecogenetics, and cancer genetics. The didactic exercises include courses in various aspects of human genetics, molecular genetics and cell biology, population genetics, human cytogenetics and statistical genetics. Research seminars include weekly seminars in medical genetics, molecular medicine seminars and seminars of basic science departments. Trainee participants in the weekly medical genetics journal club review a broad variety of research topics in medical and human genetics. The weekly Medical Genetic Grand Rounds review progress in the understanding of molecular basis and pathogenesis of genetic disorders in addition to the review of clinical aspects and issues of genetic counseling. Clinical genetics training occupies 20% of the training time during the first year and less during the second year. Support for six trainees is requested. The training period is a minimum of two years. The majority of the trainees remain at least three years in the program, the time over two years normally being funded by NRSA or other awards. The pool of applicants is MDs with housestaff training usually in Medicine or Pediatrics. Qualified applicants visit Seattle for interviews with program faculty. The main criterion for admission is commitment to a research-oriented academic career in medical genetics and a potential to pursue such a career. The training facilities include the laboratories of the training faculty (over 30,000 square feet of space) and the core and common facilities of the participating Departments and Centers. This program has an excellent past record of training MDs for careers in medical genetics. Many former postdoctoral fellows occupy significant academic positions and contribute productively to research and other scholarly activities. Future career positions of our trainees are typically in medical genetics units of medical schools.
| 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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