17:27 PM

'The VEXAS syndrome': Scientists discover a rare and deadly inflammatory disorder in men

NBC News reports scientists at the National Institutes of Health have discovered a rare and deadly inflammatory disease affecting men called the VEXAS [vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic] syndrome, which is caused by mutations in the UBA1 gene. According to the findings published in the New England Journal of Medicine, this revelation may lead to effective therapies for the disease, including bone marrow transplants or, potentially, gene-editing therapy.

S. Louis Bridges Jr., MD, PhD, Physician-in-Chief and Chair of the Division of Rheumatology at HSS, who was not involved in the study, provided commentary on the findings, noting, “This is one of those things where, if we didn't have this extremely highly specialized group of people in genetic defects, we never would have found it.”

Read the full article at NBCnews.com.