PI: Christian Windpassinger
Focus: The focus of the research group "complex genome research" is on the investigation of genetic factors that are causally involved in the development of both monogenic and complex genetic diseases. The clinical spectrum of the researched diseases ranges from genetically caused intellectual impairment to very rare, previously undescribed genetic syndromes. In addition, we are also dedicated to deciphering pathomechanistic causes of rare diseases with the aim of identifying starting points for future therapies.
Network: Through a long-standing collaboration with national and international collaborators such as John. B. Vincent (CAMH, Toronto, Canada) and Muzammil Khan (Gomal University, D.H. Khan, Pakistan), numerous genes for neurological and neuromuscular diseases have already been identified in recent years, including the genetic causes for Silver Syndrome, Al Kaissi Syndrome and for the muscle disease XMPMA.
