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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

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

New regions of the human genome linked to skin color variation in some African populations

Hands held in a circle with different skin colors.In the first study of its kind, an international team of genomics researchers have identified new regions of the genome that are associated with skin color variation in some African populations. In these newly identified regions are genes that repair DNA damage caused by UV light, are associated with albinism and contribute to the production of a novel lysosomal protein. Lysosomes play a role in optimizing nutrition, fighting infections and now, with these findings, in pigmentation The study is published today in the journal Science.

NHGRI researchers and collaborators identify Noonan syndrome in diverse people

Read MoreUsing facial analysis software, researchers with the National Human Genome Research Institute (NHGRI) and their collaborators successfully diagnosed Noonan syndrome in Africans, Asians and Latin Americans. Noonan syndrome will become part of the Atlas of Human Malformation Syndromes in Diverse Populations, a free online tool that helps healthcare providers better recognize and diagnose rare diseases in non-Europeans. The findings were announced in the September 2017 issue of the American Journal of Medical Genetics.

Summer interns help expand a critical resource for diagnosing patients

Read MoreThree students from this year's NIH Summer Internship Program in Biomedical Sciences share their experience spending the summer working on The Atlas of Human Malformation Syndromes in Diverse Populations, an online resource that helps healthcare providers diagnose patients from geographically diverse regions of the world. Thousands of applicants compete for spots in the program, which places interns at NHGRI and other institutes to conduct basic and clinical research. 

Sequencing all 24 human chromosomes uncovers rare disorders

Read MoreNon-invasive prenatal screening is one of the great success stories of genomics research. Now, a new NHGRI study has found that extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities in fetal growth. This approach may also reduce false positive results for Down syndrome and other common conditions. Findings were published online today, August 30, in Science Translational Medicine.