The focus at our Institute is on diagnosis and research of genetic diseases, as well as the development of specific therapies. Using latest methods, we are trying to understand the causes and mechanisms that lead to the onset of neuromuscular disorders, neurological developmental disorders, skeletal diseases, kidney diseases and unclarified syndromes. We offer patients and doctors a wide range of services: laboratory genetic diagnostics, testing and consultations for patients and their families in our Genetics Outpatient Center, as well as the consultations service within the University of Cologne. Within the context of our healthcare services, we work in close collaboration with the Medical Health Center (Medizinischen Versorgungszentrum, MVZ) and the Center for Rare Diseases of the University of Cologne. In terms of teaching, we are also actively engaged in training students in medicine and in Master’s degree programmes in biology, biochemistry and neurosciences at the University of Cologne.