The National Human Genome Research Institute (NHGRI) offers a one-year residency program in Medical Biochemical Genetics that trains highly motivated physicians to diagnose, manage and counsel patients with metabolic genetic disorders.
The NHGRI program is unparalleled in several respects. It exposes students to rare genetic disorders that might not be seen in a more typical biochemical genetics program; it is one of the few programs that emphasizes clinical research, and it grants access to the vast resources at the National Institutes of Health (NIH) and at other, highly ranked medical institutions in the national capital area.
The NIH sponsor of the program is the National Human Genome Research Institute. Other participating institutions include Children's Children's National Health System (CNHS), Washington D.C., Kennedy-Krieger Institute, Baltimore, MD and the University of Maryland Medical System, Baltimore, MD.
Eligibility Criteria: Candidates must have an M.D. or D.O. degree and have completed an accredited U.S. residency training program in clinical genetics or an ABMS primary specialty area, be board eligible or board certified in clinical genetics or an ABMS primary specialty area and have a valid, unrestricted U.S. license.
Three months of rotations will be at the NIH, three months at Children's National Health System (CNHS), one month in a biochemical genetics laboratory, two weeks at the Maryland Newborn Screening Laboratory, one month of clinical research at NIH and three and a half months of clinical electives at either NIH, CNHS, University of Maryland specialty clinics, or Kennedy-Krieger Institute.
Although this is a one-year program, most candidates will want to spend 2 to 3 years after the fellowship acquiring skills in the care and clinical research of patients with metabolic disorders. The residency program includes many didactic sessions, courses, seminars, biochemical journal club and metabolic continuity clinic. The course Inborn Errors in Metabolism, a one semester course, is required for all trainees.
Metropolitan Area Genetics Rotations: Children's National Health System (CNHS) : During this rotation, fellows have both inpatient and outpatient responsibilities. They function as genetics consultants for CNHS patients and are involved in the medical management of patients with metabolic disorders. They diagnose, manage and counsel outpatients and participate in the metabolic specialty clinic weekly.
National Institutes of Health (NIH) Clinical Center: During this rotation, fellows have both inpatient and outpatient responsibilities and are involved in the evaluation and management of patients with various metabolic disorders. Fellows participate in 2 weekly patient care conferences.
Maryland Newborn Screening Laboratory: This rotation will introduce the fellow to the state NBS testing and techniques, as well as many nutritional management protocols for newly diagnosed infants with metabolic disorders. Counseling skills will be improved by teaching referring physicians and parents about positive test results and dietary therapies.
Faculty and Research Interests
David Adams, M.D. Ph.D.
Oculocutaneous albinism, sialic acid disorders, metabolic diseases
Nicholas Ah Mew, M.D.
Urea cycle disorders, organic acidemias and other disorders of ammonia metabolism
Jessica Albert, Ph.D.
Molecular and biochemical diagnositics
Kimberly Chapman, M.D., Ph.D.
Mitochondrial diseases, metabolic disorders and cardio-genetic diseases
Carlos Ferreira, M.D.
Skeletal dysplasias, inborn errors of metabolism
William A. Gahl, M.D., Ph.D.
Inborn Errors of Metabolism, cystinosis, Hermansky-Pudlak syndrome, Undiagnosed Diseases Program
Fizza Gulamali-Majid, Ph.D.
Director, Maryland Newborn Screening Laboratory
Suzanne Hart, Ph.D.
Molecular and biochemical diagnostics; genetics education
Wendy Introne, M.D.
Alkaptonuria, Chediak-Higashi syndrome
Irini Manoli, M.D., MPH
Organic acidemias, Moebius syndrome
Melissa Merideth, M.D., MPH
Gynecologic aspects of genetic and metabolic diseases
Drew Michael, Ph.D.
Molecular and biochemical diagnostics
Debra Regier, M.D., Ph.D.
Metabolic disorders, genetics education
Oleg Shchelochkov, M.D.
Ellen Sidransky, M.D.
Gaucher disease, Lysosomal storage diseases
Benjamin Solomon, M.D.
Clinical Director, NHGRI
Erin Strovel, Ph.D.
Cynthia J. Tifft, M.D., Ph.D.
Glycosphingolipid and glycoprotein disorders includingTay-Sachs and Sandhoff disease, GM1 gangliosidosis, and type 1 sialidosis, undiagnosed diseases program
Charles Venditti, M.D., Ph.D.
Hereditary methylmalonic acidemias and disorders of intracellular cobalamin metabolism
Interim Program Director, Laboratory Genetics and Genomics Fellowship
National Human Genome Research Institute,
National Institutes of Health
10 Center Drive - MSC 1851
Building 10, Room 10C-103
Bethesda, Maryland 20892-1851
Last updated: June 13, 2022