Search Results
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. … genomic, social, and cultural determinants of many human diseases. … Research Program announced NIH funding bolsters rare diseases research collaborations NIH funds new All of Us … Alliance aims to accelerate our understanding of common diseases …
Talking Glossary
Data science involves the study of large, complex data sets that arise from various types of research projects.
… Data science involves the study of large, complex data sets that arise from various types of research … Data science involves the study of large, complex data sets that arise from various types of research … Data science involves the study of large, complex data sets that arise from various types of research …
Event
On December 12-13, 2024, NHGRI and NIAID co-sponsored 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 … and the National Institute of Allergy and Infectious Diseases (NIAID) co-sponsored the 16th Genomic Medicine …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
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 … in the cerebellum, the part of the brain involved in complex movement among other functions. Additionally, the … but this may not be true in the brain. “The brain is so complex, and neurons have very specialized functions. To fit …
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
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 …
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 …
Event
NHGRI will host a two-day symposium, on December 2-3, 2021, examining the history of eugenics and scientific racism and their complex legacies in the modern health sciences.
… the history of eugenics and scientific racism and their complex legacies in the modern health sciences. In addition, … the history of eugenics and scientific racism and their complex legacies in the modern health sciences. … the history of eugenics and scientific racism and their complex legacies in the modern health sciences. …
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 …