ICCBH2017 Invited Speaker Abstracts (1) (1) (2 abstracts)
Biographical Details
Frank Rutsch
Frank Rutsch is a consultant and Associate Professor in Pediatrics at Münster University Childrens Hospital, Münster, Germany. He graduated from Münster University Medical School in 1992 and took part in the Pediatric residency program in Dresden University and Dortmund Municipal Hospital, Germany. After spending a postdoctoral research fellowship at the Department of Rheumatology/Immunology, UCSD, San Diego, USA, he became the leader of an independent research group at Münster University Childrens Hospital in 2004. His main research interests are focused on the discovery of the underlying genetic defects and translational aspects in rare Pediatric metabolic and autoimmune disorders. In this respect, with the help of several consortia, his group discovered the genetic cause of generalized arterial calcification of infancy, Crisponi syndrome, certain defets of intracellular cobalamin metabolism, subtypes of Aicardi-Goutières syndrome and Singleton-Merten syndrome. His current projects include experimental studies in animal models of some of these rare disorders.