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ROSAH syndrome is a rare genetic disease caused by a mutation in the human alpha kinase 1 (ALPK1) gene (p.Thr237Met), leading to vision loss, swollen optic nerves, dry mouth, enlarged spleen, and frequent headaches. Researchers in the Laboratory of Clinical Immunology and Microbiology (LCIM) at the National Institute of Allergy and Infectious Diseases...

Published: 3/23/2026 | Updated: 3/23/2026 | Inventor(s): Christina Kozycki, Colin Sweeney, Uimook Choi

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Category(s): Application, Collaboration Sought, ResearchProducts, TherapeuticArea, TherapeuticArea > Rare/Neglected Diseases