The Medical Centre – University of Freiburg is the referral academic teaching hospital associated with the University of Freiburg and is among the largest university medical centres in Germany. The Department of Neuropediatrics and Muscle Disorders as part of the Centre for Pediatrics provides treatment for children and adolescents with injuries, malformation and diseases of brain, nerves and muscles. A highly qualified and interdisciplinary team is available for the care of patients and families. Clinical research focuses on diagnosis and novel therapeutic approaches for children and adolescents especially in the field of hereditary neuromuscular diseases.
Rôle au sein de Screen4Care
The UKLFR leads the WP3 to implement an efficient and precise newborn screening platform for rare diseases. Besides that, UKLFR is a study centre for piloting the genetic newborn screening for treatable rare diseases as well as rare diseases that are not treatable but considered actionable. Within WP3 UKLFR is responsible for whole genome sequencing for infants who showed no abnormalities in genetic newborn screening for treatable or actionable diseases, but develop symptoms suggestive of a genetic disorder.