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Research at NHGRI

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An Overview

Division of Intramural Research mission, vision and values
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Descriptions for the nine research branches of the Division of Intramural Research
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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


Researchers begin to understand ADHD genes with help from affected families 

Child with ADHDAttention-deficit/hyperactivity disorder (ADHD) is highly heritable, but researchers don't know much about the genes that cause it. Read about the experience of a participant in a National Institutes of Health (NIH) clinical trial who is helping researchers find the contributing genes. After researchers at the National Human Genome Research Institute identify the genes, they can begin to look for new medications, new behavioral interventions or new combinations of both. 

Dr. William Gahl inspires collaboration, sharing at Pruzansky lecture

MelanomaDr. William Gahl, clinical director at the National Human Genome Research Institute (NHGRI), gave the honorary Samuel Pruzansky Memorial Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference. Although he's given dozens of lectures around the world about helping patients with undiagnosed diseases since establishing the Undiagnosed Diseases Program in 2008, this particular talk was truly inspirational. 

Genes associated with Erdheim-Chester disease also linked to cancerrd.

Read more Newly identified genes associated with Erdheim-Chester disease (ECD), an ultra-rare disease, are also linked to cancer, according to a new study by NHGRI researchers. Thus, ECD should be considered a type of cancer and treated by oncologists. A new clinical trial - enrolling ECD patients now - will test the use of the drugs dabrafenib and trametinib. Findings were published in Blood Advances.

Facial recognition software helps diagnose rare genetic disease

Read more Researchers with NHGRI and their collaborators have successfully used facial recognition software to diagnose DiGeorge Syndrome, a rare, genetic disease in Africans, Asians and Latin Americans. This is the newest addition to the Atlas of Human Malformations in Diverse Populations launched last year. The study was published March 23, 2017, in the American Journal of Medical Genetics.

Study identifies African-specific genomic variant associated with obesity

Goat An international team of researchers has conducted the first study of its kind to look at genomic underpinnings of obesity in continental Africans and African Americans. They discovered that approximately 1 percent of West Africans, African Americans and others of African ancestry carry a genomic variant that increases their risk of obesity and provides insight into why obesity clusters in families. The were published March 13, 2017, in the journal Obesity.