Researchers are now identifying genetic mutations that evolved over thousands of years to protect Africans from disease pathogens. NHGRI Researcher Charles Rotimi, Ph.D., calls for comprehensive DNA sampling and genetic characterization of Africans and the people of the African Diaspora in an opinion article published September 17, in the journal Current Opinion in Genetics & Development
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 researchers have 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.