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. …  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.
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 …
Staff
Dr. Shawn Burgess is the deputy director of NHGRI's Intramural Research Program.
… only genes suspected to be linked to human genetic diseases will be knocked out, in collaboration with the Undiagnosed Diseases Network. All the known genes linked to … for these mutants, in addition to working closely with the Undiagnosed Diseases Network to knock out genes that are …
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 …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… in a gene called UBA1  are associated with inflammatory diseases … Researchers from the National Institutes of Health … the genome sequences from more than 2,500 individuals with undiagnosed inflammatory diseases, paying particular … for the NIH research team. “We had many patients with undiagnosed inflammatory conditions who were coming to the …
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.
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… as deputy clinical director and directs the Pediatric Undiagnosed Diseases Program. Dr. Tifft received her B.A. in biology … the NIH to focus her attention on children with rare and undiagnosed diseases.  For many years, Dr. Tifft's clinical …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).