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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
Event
On December 12-13, NHGRI and NIAID will sponsor the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… in the diagnosis, prevention, and treatment of infectious diseases Examine obstacles and potential solutions to … of host genomic information in clinical care of infectious diseases … Meeting Objectives … On December 12-13, 2024, the … and the National Institute of Allergy and Infectious Diseases (NIAID) will co-sponsor the 16th Genomic Medicine …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… of physical traits of people with many different inherited diseases around the world, including Asia, the Indian … often does not represent the characteristics of these diseases in patients from other parts of the world. …
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.
… our common goals of understanding and treating common diseases. … Launched in 2012, the NHGRI History of … genomic, social, and cultural determinants of many human diseases. … Genomics Research Prolonged antibiotic treatment … Research Program announced NIH funding bolsters rare diseases research collaborations NIH funds new All of Us …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… as plot points for television dramas. The Undiagnosed Diseases Program (UDP) was conceived by Dr. William Gahl … Dr. Stephen Groft (then Director of the NIH Office of Rare Diseases, now part of the National Center for Advancing … and genetics. Dr. Gahl, an expert on rare genetic diseases, served as the founding Director of the UDP and …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … was launched to build on the success of the Undiagnosed Diseases Program (UDP) at the NIH Clinical Center. "The UDN … information to help understand the cause of extremely rare diseases," said Anastasia L. Wise, Ph.D., program director …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … to any neurological disease in humans. “Among genetic diseases, we’ve solved many of the lower hanging fruits,” … question in rare disease research,” said Malicdan. “Rare diseases can help us understand biological pathways, so we …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… of helping everyone else affected by CFZS and similar diseases in the future," said Mr. Hanson. "We've come a long …
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008,
RFA-HG-22-009 and RFA-HG-22-010.