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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- 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.
News Release
The TCGA network describes uterine and bile duct cancer.
… tumors. Last month, two publications from the TCGA network described two diverse types of cancer: uterine cancer … TCGA holds for cross-cancer comparisons. Today, the TCGA network published a paper analyzing the molecular … for bile duct, uterine and breast cancer … ​The TCGA network describes uterine and bile duct cancer. … TCGA, The …
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 …
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 … The rest, part of the NIH Undiagnosed Diseases Network , had unusual and unclassified disorders. “Our …
Outreach
Become an official member of the National DNA Day Network by planning and registering your event.
… Become an official member of the National DNA Day Network by planning and registering your event. Your event will be listed on the National DNA Day Network Map and offers an opportunity to expand your event's … Event … Become an official member of the National DNA Day Network by planning and registering your event. … Become an …
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 … Diseases Program (UDP), part of the Undiagnosed Diseases Network of the NIH Common Fund, Dr. Tifft and her team …