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Gene therapy shows promise for treating Niemann-Pick disease type C1

Read moreFor the first time, NIH researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1), a rare and fatal disorder of the central nervous system. The study, led by researchers at NIH's National Human Genome Research Institute and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, was published Oct. 26, 2016, in the journal Human Molecular Genetics.

NIH researchers discover otulipenia, a new inflammatory disease

Read moreReseearchers 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. 

Researchers advance treatment possibilities for Gaucher, Parkinson's 

Read moreNIH 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.

Schizophrenia: Ancient scrolls, genomic sequencing and synaptic pruning

Read moreGenome 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.