Human Genetics 1 - Functional Genomics of Muscle, Nerve and Brain Disorders

Principal investigators: Silvère M. van der Maarel, Prof.dr. Arn M.J.M. van den Maagdenberg, Prof.dr. Annemieke M. Aartsma-Rus, Prof.dr. Willeke M.C. van Roon-Mom, Dr. Jessica C. de Greef, Dr. Maartje G.M. Huijbers, Dr. Vered Raz, Louise van der Weerd

Aim and focus

The common focus of this program is to elucidate genetic, genomic and epigenetic modifiers in neuromuscular, neurogenetic, myodegenerative and neurodegenerative disorders. Depending on the knowledge about the genetic factors involved, the strategy varies from gene identification in patient material to immunological, genetic, molecular, electrophysiological, and biochemical approaches to understand the underlying pathology and to identify targets for therapeutic interventions. Our mission is to elucidate molecular changes in the disease with the perspectives to develop new, reliable and feasible techniques for accurate clinical diagnostics; to refine prognostic precision; to study normal and abnormal gene products by reverse genetics and functional genomics; and to generate and use cellular and animal model systems to understand disease pathology, for therapy development and biomarker discovery, and ultimately to improve prevention.