Mutations in SYK cause severe immune disorder with cancer predisposition

Virtual Reality (VR) should help researchers and physicians to get a better understanding of rare diseases. Julia Pazmandi, PhD student in the research group of Kaan Boztug at the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) and CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, presented her research project in the "Falling Walls Lab" finals in Berlin, after winning the Austrian preliminary round.

Dr. Vanja Nagy, key researcher (molecular neurobiology) at LBI-RUD, successfully applied for a FWF Stand-alone grant entitled “Multifunctional Roles of the Sensory Nervous System”. The project is set to start next year with a duration of 3 years.

Today is Rare Disease Day 2019, aiming to raise awareness amongst the general public as well as decision-makers for rare diseases and how they affect patients' lives.

A rare disease affects, per definition, less than 1 of 2,000 people. But in total this is a lot: More than 8,000 rare diseases are known up to date, meaning every 17th person is affected by a rare disease - in Austria these are about 400,000 people . These numbers show the impact of rare diseases on the health system and people's lives in general.

Kaan Boztug, Director of the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), is awarded a prestigious Consolidator Grant of the European Research Council (ERC) for research on human immune dysregulation.