Our Foundation recognizes the importance of investing in the next generation of Blau Syndrome scientists. As a rare disease, there are no existing drugs tailored to fight Blau Syndrome and treatment consists of using off-label medications, with the hopes of putting the disease in remission or managing symptoms to improve quality of life. Even with aggressive medicine, many patients fight to keep their vision, mobility and organ function. 

The need for brilliant minds who can shape the future of Blau Syndrome led us to Leah Huey, our very first, “Blau Scholar!”  Leah is a doctoral student at Oregon Health Science University in Portland, OR, USA, who is dedicating her scientific pursuits to Blau Syndrome. She works in Dr. Ruth Napier's lab, which is home to the only mouse models with Blau Syndrome and also contains rare Blau Syndrome patient blood samples. 

Leah’s doctoral studies will utilize patient blood cells to determine the mechanism by which mutations in NOD2 affect T cell function and cause uveitis and arthritis, two of the largest and most debilitating symptoms of Blau Syndrome. Results of this investigation may be useful as  biomarkers of disease or therapeutic targets for future drug development.