Established in 1994, the National Human Genome Research Institute (NHGRI) Office of the Clinical Director (OCD) is committed to supporting world-class clinical research and enhancing the education of genetics investigators at all levels.
At the heart of the OCD mission is the challenge of finding new and better ways to help patients affected by genetic disorders. To that end, the office provides oversight and guidance to NHGRI scientists working to develop better diagnostic methods, innovative therapeutic approaches and improved medical management strategies for genetic disorders.
Another important function of the OCD is assisting NHGRI's Institutional Review Board (IRB) in its task of ensuring the protection of participants in NHGRI clinical protocols or in basic science studies involving human specimens. The NHGRI IRB is now part of NIH's Internal Medicine I IRB.
To promote a spirit of collegiality and help maintain standards of excellence in clinical care, the OCD holds a weekly conference to review the clinical history of each patient participating in NHGRI protocols. Each week, the OCD also hosts a formal Clinical Genetics Conference for the clinical staff, faculty and medical genetics fellows to discuss extraordinary clinical cases or relevant genetics topics. The Clinical Director also conducts weekly walk rounds on in-house patients.
As part of its directive, the OCD is responsible for coordinating requests for genetic consults from physicians at the NIH Clinical Center and addressing public inquiries regarding clinical issues. The OCD receives many such requests and refers people to resources such as genetic counselors, support groups, medical experts and patient information centers at the NIH and elsewhere.
Since 2008, the OCD has hosted the intramural NIH Undiagnosed Diseases Program (UDP), now part of the Common Fund's Undiagnosed Diseases Network (UDN). The UDP has as its goal the diagnosis of patients whose disorders have long remained mysteries, and to advance medical science.
William A. Gahl, M.D., Ph.D.
Director, Undiagnosed Diseases Program
Senior Investigator, Medical Genetics Branch
Head, Human Biochemical Genetics Section
Cynthia J. Tifft, M.D., Ph.D.
Senior Staff Clinician
Director, Pediatric Undiagnosed Diseases Program
Associate Investigator, Medical Genetics Branch
David Adams, M.D., Ph.D.
Senior Staff Clinician
Deputy Director of Clinical Genomics, NHGRI
Pediatric Undiagnosed Diseases Program
Sara Hull, Ph.D.
Head, Bioethics Core
Vice Chair, NIH Internal Medicine I Institutional Review Board
Manfred Boehm, M.D.
Laboratory of Cardiovascular Regenerative Medicine
National Heart Lung, and Blood Institute
Office of the Clinical Director
National Human Genome Research Institute
National Institutes of Health
10 Center Drive
Bethesda, MD 20892
Phone: (301) 496-7125
?Fax: (301) 496-7157
Last Updated: September 7, 2018