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Office of the Clinical Director

 William A. Gahl, M.D., Ph.D., NHGRI Clinial Director

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.

To achieve its goals, the OCD focuses on the following areas:
  • Providing expert clinical and administrative infrastructure for all NHGRI clinical research protocols, as well as basic science studies involving clinical specimens.
  • Assuming an active role in the development and implementation of individual clinical research protocols and clinical research initiatives.
  • Establishing a presence for NHGRI within the leadership of the National Institutes of Health (NIH) Clinical Center, and helping to integrate the goals of NHGRI's clinical staff with those of the NIH Clinical Center.
  • Supporting NHGRI's training programs in Medical Genetics and Genetic Counseling.

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.

NHGRI's Cynthia Tifft receives 2017 NORD Rare Impact Award

Dr. Cynthia Tifft is awarded 2017 Rare Impact AwardDr. Cynthia Tifft, NHGRI Deputy Clinical Director and Director of the Pediatric Undiagnosed Diseases Program at the National Institutes of Health, has received the National Organization for Rare Diseases (NORD) 2017 Rare Impact Award. Dr. Tifft has dedicated decades of work to researching rare diseases and advocating for rare disease patients. 


Clinical Director


William A. Gahl, M.D., Ph.D.
Director, Undiagnosed Diseases Program
Senior Investigator, Medical Genetics Branch
Head, Human Biochemical Genetics Section

Deputy Clinical Director


Cynthia J. Tifft, M.D., Ph.D.
Senior Staff Clinician
Director, Pediatric Undiagnosed Diseases Program
Associate Investigator, Medical Genetics Branch

Associate Investigators

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

Adjunct Investigator

Manfred Boehm, M.D.
Senior Investigator
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

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Last Updated: September 7, 2018

See Also:

Clinical Research

Current NHGRI Clinical Studies

NHGRI Institutional Review Board

Genetic and Rare Diseases Information Center

Clinical Research FAQ

Medical Genetics Residency and Fellowship Training Programs

On Other Sites:

NIH Clinical Center

Genetics in Clinical Practice: A Team Approach
Free, downloadable coursework from Dartmouth University's Interactive Media Laboratory.