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Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

Welcome

Rare diseases pose a major challenge to patients, families, physicians, researchers, health-care systems, and to our society as a whole. A disease is considered rare when not more than one person per 2,000 people is affected. However, taking into account the vast number of almost 8,000 different rare diseases, a total number of up to 400,000 people in Austria may be affected by a rare disease - statistically speaking this corresponds to 1 in 20 people.

When immune cells aren’t in their senses: a key regulator of the actin cytoskeleton ensures signal perception and prevents autoimmunity

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.