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Research at NHGRI

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An Overview

Division of Intramural Research mission, vision and values
Buildings on NIH Main Campus


Descriptions for the nine research branches of the Division of Intramural Research
Dan Kastner

Research Investigators

Profiles of NHGRI scientists, their research and current publications
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Clinical Research

NHGRI's clinical research program, the Undiagnosed Diseases Program and current clinical studies

NHGRI Affiliated Centers

Collaborations with other NIH centers involved in genomic research
Letters A-C-T-G

Online Research Resources

Databases, software and research tools developed by NHGRI researchers
Paper Calendar

Intramural Calendar

Intramural research workshops, conferences, seminar series and courses
Books (Hard Copies)

Publications, Books, and Resources

Current publications for intramural research scientists
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Organizational Chart

Organization and personnel for the Division of Intramural Research


Gene therapy shows promise for treating Niemann-Pick disease type C1

Read moreFor the first time, NIH researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1), a rare and fatal disorder of the central nervous system.

Training docs to be researchers, too

Read moreThe Physician-Scientist Development Program (PSDP) at the National Human Genome Research Institute helps physicians develop research programs dedicated to the disorders they specialize in. The program trains fellows to use the tools that unlock information in the human genome for real world applications, such as finding cures for genetic diseases. Armed with training from the PSDP, Dr. Peter McGuire joins the Division of Intramural Research as its newest faculty member.

NHGRI researcher calls for more genomic research of Africans, people of the African diaspora

Read moreResearchers are now identifying genetic mutations that evolved over thousands of years to protect Africans from disease pathogens. NHGRI Researcher Charles Rotimi, Ph.D., calls for comprehensive DNA sampling and genetic characterization of Africans and the people of the African Diaspora in an opinion article published September 17, in the journal Current Opinion in Genetics & Development

NIH researchers discover otulipenia, a new inflammatory disease 

OutulipeniaNational Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. It is caused by the malfunction of OTULIN, a single gene on chromosome 5. They also identified anti-inflammatory treatments to ease some of the patients' symptoms: fever, skin rashes, diarrhea, joint pain and overall failure to grow or thrive. The research is published in the Aug. 22, 2016, early edition of the Proceedings of the National Academy of Sciences.