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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 capitol area.

The NIH sponsor of the program is the National Human Genome Research Institute. Other participating institutions include Children's National Medical Center (CNMC), Washington D.C. and the University of Maryland Medical System, Baltimore, Md.

Eligibility Criteria: Candidates must have an M.D. 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.

Program Structure

Three months of rotations will be at the NIH, three months at Children's National Medical Center, 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, CNMC, 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 acquiring skills in the care and clinical research of patients with metabolic disorders. The residency program includes many lectures, courses and seminars. Among them are a journal club and seminars in genetic topics. The course Inborn Errors in Metabolism, a one semester course, is required for all trainees.

Metropolitan Area Genetics Rotations: Children's National Medical Center (CNMC) (required): During this rotation fellows have both inpatient and outpatient responsibilities. They function as genetics consultants for CNMC 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.

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

William A. Gahl, M.D., Ph.D.
Inborn Errors of Metabolism, cystinosis, alkaptonuria, Hermansky-Pudlak syndrome

Cynthia J. Tifft, M.D., Ph.D.
Natural history of neurofibromatosis, type I, cleft lip and palate disorders, Tay-Sachs

David Adams, M.D. Ph.D.
Oculocutaneous albinism, sialic aciddisorders, metabolic diseases

Meral Gunay-Aygun, M.D.
Autosomal recessive polycystic kidney disease, ciliopathies, metabolic diseases

Carol Greene, M.D.
Organic acidoses

Uta Lichter-Konecki, M.D., Ph.D.
Inborn Errors of Metabolism, Urea Cycle Disorders, Renal Fanconi Syndrome and Phenylketonuria (PKU)

Thomas Markello, M.D., Ph.D.
Metabolic disorders, pulmonary fibrosis

Susan Panny, M.D.
Director, Maryland Newborn Screening Laboratory

Ellen Sidransky, M.D.
Gaucher disease, Lysosomal storage diseases

Wendy Introne, M.D.

Mendel Tuchman, M.D., Ph.D.
Urea cycle defects, biochemical diagnostics

Charles Venditti, M.D., Ph.D.
Methylmalonic acidemias

Dina Zand, M.D.: Metabolic disorders

How to Apply

Send a letter of interest, a CV, three letters of reference, United States Medical Licensing Examination (USMLE) scores and a transcript to:

William A. Gahl, M.D., Ph.D.
Clinical Director, National Human Genome Research Institute
Head, Section on Human Biochemical Genetics, Medical Genetics Branch
Head, Intramural Program, Office of Rare Diseases Research
National Institutes of Health
10 Center Drive - MSC 1851
Building 10, Room 10C-103
Bethesda, Maryland 20892-1851
Phone: 301-402-1833
Fax: 301-402-2740
E-mail: bgahl@helix.nih.gov

Last updated: July 8, 2012