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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending … explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a … $2.5 million to study what specific genes do in rare, difficult-to-diagnose diseases. In this third round of …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … Content … NIH researchers use a new cell model of a rare disease to develop therapeutic compounds … A team from …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The … and on Facebook - so that healthcare providers can one day take a cell phone picture of their patient, have it …
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).
… decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type … in strokes. Image Credit: Darryl Leja, NHGRI. DADA2 is a rare disease that presents in childhood, even in children …
Media Availability
National DNA Day events give the public a chance to ask questions about genetics and genomics.
… (NHGRI) will celebrate its fourteenth annual National DNA Day on Monday, April 25, 2016. National DNA Day commemorates the successful completion of the Human … the causes, treatments and cures for both common and rare diseases. For more information about NIH and its …
News Release
NHGRI marks its fourteenth annual National DNA Day by organizing a nationwide network of educational events for students, teachers and health professionals.
… (NHGRI) will mark its fourteenth annual National DNA Day by organizing a nationwide network of educational events … … Celebrated on April 25th every year, National DNA Day aims to educate people about important scientific … speaker is NHGRI's own senior investigator in the Genetic Disease Research Branch, William J. Pavan, Ph.D. His …
News Release
On its 15th anniversary, National DNA Day and NHGRI shared its genomics expertise to explain the importance of genomics in our everyday lives.
… of genomics in our everyday lives through a National DNA Day Reddit Science "Ask Me Anything" (AMA) Series. NHGRI … which are sentinels in the front lines of defense against disease. We didn't know that these cells existed before! Because they were so rare, they were not seen. One of these new cell types could …
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.
… misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … and his colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). … … Related Content … Decades after rare disease diagnosis, family and physician hail genomic …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… Finding accurate and reliable information on genetic and rare diseases among the millions of online sources is a … National Human Genome Research Institute or the Office of Rare Diseases at the National Institutes of Health. We cannot … your medical care. … Information on just about any disease can be obtained from the published scientific …
Media Advisory
NHGRI memorializes genomics champion Rep. Louise M. Slaughter (D-N.Y.) with an annual National DNA Day lecture named in her honor.
… who passed away in March, by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her … in the House of Representatives that created National DNA Day, which celebrates the completion of the Human Genome … the causes, treatments and cures for both common and rare diseases. For more information about NIH and its …