Daily life of many rare disease patients resembles an odyssey of examinations and consultations with different physicians, frequently without any result. Questions remain without answers, secured diagnoses and suitable treatments are not available in many cases.
A hitherto unknown gene mutation revealed the role of a key molecule for immune cell development. The international team led by LBI-RUD director Kaan Boztug gained fundamentally new insights into the human immune system by studying this newly discovered mutation. Moreover, their research revealed a potential personalized therapy for this rare disease. The study, published in Nature Immunology, clearly highlights the importance and opportunities of research in the field of rare diseases.
LBI-RUD director Kaan Boztug, together with Loïc Dupré (LBI-RUD) and Jörg Menche (CeMM) won one out of five prestigious research grants by the Vienna Science and Technology Fund (WWTF) in their 2016 Life Science Precision Medicine Call, granted for their innovative research project that has the potential to significantly contribute to major advancements in the field of personalized medicine and treatment options. The funding amounts to a total of nearly 1 Mio. EUR for three years.