Rare Disease News: Scientists Discover Cause, Potential Treatment for Cases of Deadly Autoimmune Disorder

Discovery of hidden gene variant will facilitate earlier diagnosis and medical care.

Thursday, November 7, 2024 Scientists Discover Cause, Potential Treatment for Cases of Deadly Autoimmune Disorder Illustration of DNA transcription into RNA (purple ribbon) and RNA translation into a protein (blue spheres). The newly discovered gene variant causes faulty transcription, resulting in a non-functional protein responsible for APECED. Credit: NINDS NIAID-led scientists' discovery of a hidden gene variant that causes some cases of a devastating inherited disease will enable earlier diagnosis of the disorder in people with the variant, facilitating earlier medical care that may prolong their lives. The researchers are working on a treatment for this unusual form of the rare autoimmune disease, known as APECED, and have traced its evolutionary origins. The findings are published in the journal Science Translational Medicine. National Institute of Allergy and Infectious Diseases  |  National Institutes of Health Update your subscriptions, modify your password or e-mail address, or stop subscriptions at any time on your Subscriber Preferences Page. You will need to use your e-mail address to log in. If you have questions or problems with the subscription service, please contact Subscriber Help. Your subscription may be removed if you do not open our emails for a six-month period.  This service is provided to you at no charge by National Institute of Allergy and Infectious Diseases (NIAID).                             This email was sent to myhcistech.healthnews360@blogger.com using GovDelivery Communications Cloud on behalf of: National Institute of Allergy and Infectious Diseases · 5601 Fishers Lane · Bethesda, MD 20892 · 1-866-284-4107