The goal of this training program is to recruit and educate physician-scientists who have the potential to become leaders in the field of Genetic Medicine. The program is designed to expose trainees to all facets of modern medical genetics extending from the laboratory to the patient setting. Hopkins provides leadership in the categorization and mapping of inherited traits, the study and management of patients with inborn errors of metabolism and neurogenetic disorders, the application of genomic and computational methods to the identification and understanding of multiple genes and their role in human disease, as well as the diagnosis, classification and treatment of disorders of connective tissue. The training experience emphasizes research in human genetics and prepares trainees for a career in academic medicine. The McKusick-Nathans Institute of Genetic Medicine oversees the clinical, educational and research activities in human genetics of the Johns Hopkins School of Medicine. Faculty offices and research laboratory facilities of the Institute are consolidated in the Broadway Research Building that is adjacent to the Hospital. The Clinical Program operates within Hospital space and educational activities occur in the Hospital, Research and Preclinical Teaching Building. Thus, Research, Education and Clinical Programs of the Institute are in close proximity facilitating transition from one activity to another for faculty and trainees. The program has an outstanding track record of educating physician-scientists who have made and continue to make substantial contributions to medical genetics. Physicians desiring eligibility for the American Board of Medical Genetics perform clinical training for 12 months followed by 6 months of research-oriented clinical exposure before entering 18 months of an intensive in-depth experience in genetic research. To maintain the strong emphasis on research training and to expand the number of physicians who will contribute to advancements in the field of genetic medicine, the Institute offers combined training programs in pediatrics and genetics (5 years), maternal fetal medicine and genetics(4 or 5 years), and internal medicine and genetics (5 years). Trainee stipends for the clinical portion of each training program are provided by the Hospital while this grant supports trainees when they are primarily devoted to research. Research is performed under the auspices of a carefully selected mentor, with additional mentoring and career guidance provided by the Program Director, the Co-Director and selected senior faculty members to facilitate transition into a productive independent research career. The program currently averages 10 trainees per year and 5 trainee stipends per year are requested in this application.

Public Health Relevance

The Medical Genetics Training program at Johns Hopkins educates physicians and scientists in the application of genetic principles to decipher the mechanisms of rare and common inherited diseases in humans. Trainees in the program become skilled in translating genetic information from the bench to the bedside with the primary goal of improving health outcomes in patients with genetic disorders.

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-BRT-5 (PD))
Program Officer
Haynes, Susan R
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Johns Hopkins University
Schools of Medicine
United States
Zip Code
You, Jing; Sobreira, Nara L; Gable, Dustin L et al. (2016) A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am J Hum Genet 98:909-18
Chacón-Camacho, Oscar F; Sobreira, Nara; You, Jing et al. (2016) Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. Am J Med Genet A 170:1934-7
Li, Ruijuan; Sobreira, Nara; Witmer, P Dane et al. (2016) Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. Haematologica 101:e228-31
Ben-Salem, Salma; Sobreira, Nara; Akawi, Nadia A et al. (2016) Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. Am J Med Genet A 170A:156-61
Lal, Tamanna Roshan; Borger, Daniel K; Sidransky, Ellen (2016) Once again, rare diseases provide a spotlight. Mol Genet Metab 118:1-2
Hunter, Jessica Ezzell; Irving, Stephanie A; Biesecker, Leslie G et al. (2016) A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genet Med 18:1258-1268
Moreno, Carolina Araujo; Metze, Konradin; Lomazi, Elizete Aparecida et al. (2016) Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. Am J Med Genet A 170:2965-2974
Braunstein, E M; Li, R; Sobreira, N et al. (2016) A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. Leukemia 30:2242-2245
Fleming, Leah; Lemmon, Monica; Beck, Natalie et al. (2016) Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. Am J Med Genet A 170A:77-86
Roshan Lal, Tamanna R; Kliewer, Mark A; Lopes, Thelma et al. (2016) Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment. Am J Med Genet C Semin Med Genet 172:190-7

Showing the most recent 10 out of 50 publications