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NIH

Research at NHGRI

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An Overview

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

Branches

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

Highlights

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

The UDN joins forces with Reddit for an "AMA"

Read more On March 3, 2017, in honor of Rare Disease Day, experts from the Undiagnosed Diseases Network (UDN) turned to Reddit to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). These rare disease clinical and research experts have joined forces to solve the world's most challenging medical mysteries. Supported by the NIH Common Fund, UDN uses genome sequencing in the clinic, along with a network of experts, to provide answers for patients and families affected by mysterious conditions. Here's a recap of the event.

NIH and USDA scientists publish goat genome sequence

MelanomaNIH and USDA researchers have developed a new technique for reconstructing highly accurate reference genomes and have applied it to the domestic goat. Accurate reference genomes are important for understanding an organism's biology, for learning about the genetic causes of health and disease and, in animals, for making breeding decisions. The study is published today, March 6, 2017, in Nature Genetics

Rare disease research may provide insights into common diseases

In Gaucher's disease, the small molecule NCGC607 chaperones mutated protein to the nerve cells, helping to break down the cell's waste products. Research on Gaucher's is just one of the rare diseases that could both benefit affected patients and provide insight into common disorders.On February 27, several NHGRI researchers - Anastasia L. Wise, Ph.D., Shawn Burgess, Ph.D., and Brian P. Brooks, M.D., Ph.D.- will highlight rare disease research that could benefit affected patients, but also provide insight into more common disorders. They will underline this important relationship in advance of Rare Disease Day at NIH, a day-long symposium that is part of a global effort to raise awareness of rare diseases. 

NIH study reveals how melanoma spreads

MelanomaNewly identified genes and genetic pathways in primary melanoma - a type of skin cancer - could give researchers new targets for developing new personalized treatments for melanoma, and potentially other cancers. Learning how the genes are expressed - turned on or off - could be used in the future to predict how and when the cancer cells will spread to other parts of the body and how fast they will grow. Read the study in the February 6, 2017, online issue of Pigment Cell and Melanoma Research