​

SILVERE M. VAN DER MAAREL, PhD

 

Dr. Silvère van der Maarel is a Professor of Medical Epigenetics and Head of the Department of Human Genetics at the Leiden University Medical Center.

 

He was trained as a Human Geneticist at the Radboud University Medical Center in the city of Nijmegen, the Netherlands, where he got acquainted with the positional cloning of X-linked disease genes. He continued to work on the positional cloning of X-linked disease genes at the Max Planck Institute of Molecular Biology in Berlin, Germany. In 1997, Dr. van der Maarel joined the Department of Human Genetics in Leiden (LUMC, the Netherlands). In 2006, he was appointed Professor of Medical Epigenetics and from 2012 onwards he is the head of the Department of Human Genetics at the LUMC.

 

Dr. van der Maarel’s scientific interests focus on the genetic and epigenetic regulation of repetitive DNA in the human genome in relation to disease. His main interest is the genetic and epigenetic basis of facioscapulohumeral muscular dystrophy (FSHD), for which his team and collaborators elucidated all currently known genetic causes: a contraction on a DUX4 polyadenylation signal containing chromosome 4 in FSHD1, or mutations in the FSHD2 disease genes SMCHD1, DNMT3B and LRIF1. He also identified three genetic causes for another epigenetic disease that affects the epigenetic regulation of repetitive DNA, ICF syndrome, and made scientific contributions to other muscular dystrophies including OPMD and LGMD.

​