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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)1
Media Availability
Researchers have used a new combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of microbes in the human microbiome.
… gut bacterium from the sea of trillions of microbes in the human microbiome. … The new method has broad applications for … , is funded by the Technology Development program of the Human Microbiome Project (HMP). The HMP is supported by the … the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… expressed overall optimism about participating in human genome editing clinical trials, but were concerned … Social and Behavioral Research Branch  of NIH's National Human Genome Research Institute (NHGRI). "This study couldn't … A major theme across all groups was hope that the new human genome editing treatments would reduce suffering, …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… study, carried out by scientists at the National Human Genome Research Institute (NHGRI), part of the National … by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and … pathogens. This evolutionary battle is between the human immune system and microorganisms trying to invade our …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… teams to study the biology of rare and undiagnosed diseases. The new grants, pending available funds, support … Anastasia Wise, Ph.D., a program director at the National Human Genome Research Institute (NHGRI), a part of NIH. "The … fly to study the gene variant in question. They add a human gene variant or turn off the gene activity of a similar …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… to announce the completion of a draft sequence of the human genome. The ceremony took place in the East Room of the … gathered to celebrate a major milestone for the Human Genome Project. This historic landmark for biomedical … research was in the making for nearly 10 years, since the Human Genome Project (HGP) began on October 1, 1990. Led by …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… work is automatically accomplished by computers - with no human interpretation or bias - and takes about three hours … genes. … The UDP is part of the Undiagnosed Diseases Network , which brings together clinical and … physician in the Office of the Clinical Director, National Human Genome Research Institute. "The toolset we developed …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… said Eric D. Green, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), where the lead … senior author and staff scientist in NHGRI's Inflammatory Diseases Section. The Israeli researchers, whose study is … study expands what has previously been known about vascular biology, and it is truly gratifying to be among two …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… from person to person. … Researchers at the National Human Genome Research Institute (NHGRI) are seeking help from …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… peoples’ DNA.  There are multiple types of variants in human genomes, ranging from small differences to large …  A very small subset of genomic variants contributes to human health and disease.  Researchers create reference … health. In some cases, genomic variants directly cause diseases (such as in cystic fibrosis and sickle cell …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.