The Department of Human Genetics focuses on fundamental research to gather more insight in molecular mechanisms of hereditary common and rare diseases, and the development of new diagnostic and therapeutic strategies. Head of the Department is Prof. Dr. Ir. Silvère van der Maarel.
The department has nine research groups. Areas for attention are muscular dystrophies, neurogenetics, medical epigenetics, tumor genetics, cardiovascular disease, developmental biology, population genetics, immunogenetics and new genome technologies, with a strong focus on DMD, BMD, LGMD, FSHD, SCA and HD.
The DNA diagnosis for these muscle diseases in the Netherlands is performed at the Laboratory for Diagnostic Genome Analysis, which is part of the Clinical Genetics department. Through close collaboration with this Department it is possible to speedily put the latest developments in the diagnosis of hereditary diseases into practice. The Department of Neurology has multidisciplinary polyclinics for neuromuscular disorder patients and manages the Dutch BMD/DMD patient registry (see www.lumc.nl/duchenne for more information).
Role within Neuromics
Related projects