Ruxolitinib shows promise as treatment for rare genetic disorder

Ruxolitinib, a drug approved to treat certain autoimmune diseases and cancers, successfully alleviated symptoms of autoimmune polyendocrine syndrome type 1 (APS-1), a rare genetic syndrome marked by multiple organ dysfunction that's fatal in more than 30% of cases. Researchers identified the treatment based on their discovery that APS-1 is linked to elevated levels of interferon-γ, a protein involved in immune system responses. Ruxolitinib normalized IFN-γ levels and reduced the damaging effects of the gene deficiency in mice and humans in this study. Tap for more details ...