Existing Drug Shows Promise as Treatment for Rare Genetic Disorder

A drug used for other conditions successfully alleviated symptoms of a rare genetic syndrome called #autoimmune polyendocrine syndrome type 1 (APS-1). APS-1 causes #inflammation in multiple organs and can be fatal in 30% of cases. Researchers identified the drug, #ruxolitinib, based on their discovery that the syndrome is linked to the immune protein interferon-gamma. This research sheds light on the role of interferon-gamma in #autoimmunity and possible treatments for APS-1 and similar syndromes. This study was led by researchers at #NIAID and published in the New England Journal of Medicine today. Learn more at go.nih.gov/s0P8LNW. In this video, the drug, ruxolitinib, is shown as a white and blue model of a molecule among disc-shaped red blood cells on a red background. #APECED #immunology