Search Results
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… with DADA2 and other autoimmune and autoinflammatory diseases. Researchers published their findings in the April … Amanda Ombrello, M.D., a staff clinician at the National Human Genome Research Institute (NHGRI), part of NIH. "Since …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… to develop a graphical display illustrating the scale of human genome sequence. The wall is now enhanced with a representation of ~1/1000th of the human genome sequence – specifically, about 3 million G’s, … our common goals of understanding and treating common diseases. …  Launched in 2012, the NHGRI History of …
About Genomics
An interactive timeline listing key moments from the history of the project.
… and values of NHGRI. … Completed in April 2003, the Human Genome Project gave us the ability to read nature's complete genetic blueprint for a human. This interactive timeline lists key moments from the …  1984-86 Early meetings assess the feasibility of a Human Genome Project. More + 1984-86 In December 1984, the …
News Release
NHGRI celebrated the 15th anniversary of the Human Genome Project with a "15 for 15" Celebration that commemorates the genomic advances since 2003.
… Palmer … On April 25th - National DNA Day - the National Human Genome Research Institute (NHGRI) will celebrate the 15th anniversary of the completion of the Human Genome Project. To commemorate this milestone and the … the genomic developments made since the end of the Human Genome Project and the importance of genomics in …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health … the new atlas to diagnose diverse patients with inherited diseases by comparing physical traits (called phenotypes) and …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute and their international … have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … By … Syndrome in Diverse Populations . … Diagnosing Rare Diseases … Related Content … Williams-Beuren syndrome added …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… of Health (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era … to better understand of how genes can cause or influence diseases and develop new and more effective diagnostics and … Mutation, Gene Variation, DNA Sequencing, Clinical Trials, Human Research Subjects … NHGRI researchers work with …
Research Funding
The Human Genome Reference Program (HGRP) maintains and updates the human genome reference and provides it to the scientific community.
… Since the origin of the human reference in the completion of the International Human Genome Project, there has been a need to maintain and improve the human reference and to make it available to the community. …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.