The Otto-von-Guericke University Magdeburg (OVGU) is a young university, founded in 1993, with a focus on engineering, natural sciences and medicine. The Institute of Human Genetics, headed by Prof. Dr. med. Martin Zenker, has a strong research interest in the genetic basis of rare diseases and, in particular, has made significant contributions to the understanding of the molecular pathogenesis and genotype-phenotype correlations of RASopathies. OVGU is hosting a publicly available database on mutation spectrum and phenotype correlations in RASopathies (www.nseuroent.com) and is a member of the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN ITHACA).
Role within EURAS
Within the EURAS consortium, partners from PMU and OVGU together with patient representatives and UMA will implement a PATient Registry for RASopathies (PATRAS). The registry data will be used to identify significant genotype-phenotype correlations for stratification of patient cohorts and to improve monitoring of disease and treatment outcomes (WP2). OVGU will lead the CFC/Costello/Noonan syndrome registry (PATRAS B).