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Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for … principles of genomic architecture underlying common, complex inherited diseases. Understand how best to design rare variant studies …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… could be widely available to treat people with these diseases. However, there's a long distance between … understand the connection between Gaucher and Parkinson's diseases, NHGRI researchers used a labor-intensive technology … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… for Precision Health Research and head of the Childhood Complex Disease Genomics Section within the Intramural … to study the genomics and environmental contributors of diseases in African populations. Diversifying genomics … his Ph.D., Dr. Hanchard studied genomic variation and complex traits. He also completed a pediatric residency at …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are correlated … Institute of Arthritis and Musculoskeletal and Skin Diseases Last Updated: February 7, 2017 …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social … Clinical and research experts from the Undiagnosed Diseases Network (UDN) have joined forces to solve the most … , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
… have set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to … Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to … Chromatin, DNA-protein complex, regulatory proteins, Encyclopedia of DNA Elements, …