Search Results
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data​​.
… data on gene expression, as well as surrogate markers of regulatory elements, in different cell fates or cell … element data to construct gene regulatory network models, taking advantage of the dynamics of the system as the … facilitate interpreting the phenotypic consequences (e.g. disease) of genetic variation, particularly in non-coding …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. Caused by mutations in one of the genes …
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.
… That event was extremely helpful in revealing some of the major issues that are on the minds of genome scientists and those interested in the biomedical applications of genomics. The next 'Genomics 2020' Town Hall will take … A summary of NHGRI's first strategic planning Town Hall, held via …
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.
… The objectives of the meeting were to: Define currently available approaches … information in the diagnosis, prevention, and treatment of infectious diseases Examine obstacles and potential … insufficient guidelines, and sparse ascertainment of underrepresented groups) Identify research opportunities …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… Howard Chang, Stanford University Judy Cho, Icahn School of Medicine at Mt. Sinai Workshop Rationale Moderator: Howard … Chang (Stanford University) 1:05 - 1:15 p.m. Overview of NHGRI’s Strategic Vision Eric Green, NHGRI 1:15 - 1:25 … the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. …
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).
… National Institutes of Health (NIH) researchers have identified a treatment that significantly decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type … (adenosine deaminase 2). This can lead to inflammation of the walls of the blood vessels, hindering blood flow to …
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.
… New disease could provide insights into how the cell’s recycling … Researchers at the National Institutes of Health have discovered a new neurological condition … in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an Italian breed known …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… Dr. William Pavan received his B.S. in animal science from the University of Massachusetts, Amherst, and his Ph.D. in physiology from … and to dissect gene regulatory pathways in development and disease. His primary areas of interest include the … NPC1  is also mutated in individuals with NPC. Further animal modeling studies demonstrated that neuronal-targeted …
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.
… to have weak facial muscles, cleft palates and curvature of the spine. Nor did they know what produced the phlegm that … child's lungs every 15 minutes for the first three years of their lives. … makes me really excited because there's the possibility of helping everyone else affected by CFZS and similar …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria, a rare genetic disease that causes extreme premature aging in children and … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health; Broad Institute of …