National Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. It is caused by the malfunction of OTULIN, a single gene on chromosome 5. They also identified anti-inflammatory treatments to ease some of the patients' symptoms: fever, skin rashes, diarrhea, joint pain and overall failure to grow or thrive. The research is published in the Aug. 22, 2016, early edition of the Proceedings of the National Academy of Sciences.
The genetic origins of the Sardinian dog (also called Fonni's dogs for the city) mirror recent studies that also traced the genetic origins of human Sardinians to the Middle East and Hungary according to scientists at the National Human Genome Research Institute. Sequencing the whole genome of Fonni's dogs revealed clues about the migration of humans to the area. Findings were reported August 12 in the journal Genetics.
National Institutes of Health researchershave identified and tested a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. These findings demonstrate how insights from a rare disorder can have direct relevance to the treatment of more common disorders. The findings were published July 12, 2016 in The Journal of Neuroscience.
The NHGRI History of Genomics Program closed its six-part seminar series featuring Human Genome Project (HGP) participants who helped launch the HGP with the talk: The Genome is for Life, by David Bentley, D.Phil., on Thursday, May 26th. Dr. Bentley is vice president and chief scientist at Illumina Inc. His long-term research interest is the study of human sequence variation and its impact on health and disease.
Last Updated: August 22, 2016
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