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Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
Event
Joint workshop featuring overviews of Roadmap Epigenomics and ENCODE resources that are freely available for use by the research community.
Event
NHGRI hosted the Advanced Genomic Technology Development Meeting at Northeastern University May 30 - June 1, 2018.
Events
NHGRI hosted the Advanced Genomic Technology Development Meeting at Northeastern University in Boston, Massachusetts, from May 22-25, 2017.
News Release
NHGRI hosted a CRISPR "Ask Me Anything" with Jennifer Doudna, Ph.D., reaching 10.5 million people worldwide.
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
News Release
Researchers funded by NHGRI’s Genome Technology Program include a wide range of investigators with a variety of scientific expertise.