Reseearchers at the National Institutes of Health (NIH) 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.
NIH 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.
Genome Advance of the Month describes a leap forward in understanding the heritability and progression of schizophrenia in a study by researchers at Harvard Medical School and the Broad Institute. The study, published in the Nature, signals the potential for research using large numbers of whole genome sequences, innovative biological methods and advanced software toolkits for analysis.