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Prof. dr. Silvère van der Maarel
Prof. dr. Silvère van der Maarel
Hoogleraar Medische Epigenetica, hoofd van de afdeling Humane Genetica LUMC

Prof. dr. Silvère van der Maarel

Expertises

  • FSHD
  • Genetica
  • Immunologie

Locatie

  • Leiden UMC
    Expertisecentrum

    Leiden UMC

    South Holland Meer informatie
Hoogleraar Medische Epigenetica, hoofd van de afdeling Humane Genetica LUMC

Prof. dr. Silvère van der Maarel

Oratie:
2006, Wat beweegt ons?

(English)

Silvère van der Maarel was trained as a Human Geneticist at the Radboud University Nijmegen Medical Center in the Netherlands where he was involved in the positional cloning of X-linked disease genes. He continued this work at the Max Planck Institute of Molecular Biology in Berlin, Germany, for? one year. The identification of genetic rearrangements at long distances from disease genes during his training sparked his interest in long-range gene regulation.  In 1997, he joined the Department of Human Genetics in Leiden (LUMC, the Netherlands) to continue the ongoing studies of the pathogenetic mechanisms underlying facioscapulohumeral dystrophy (FSHD). In 2006, he was appointed as a Professor of Medical Epigenetics and since 2012 he has served as the chair of the Department of Human Genetics at the LUMC.

Prof. 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 research interest is FSHD, an adult muscle disease caused by genetic and epigenetic changes in a repetitive DNA structure on the tip of the long arm of chromosome 4. He also studies the Immunodeficiency, Centromere instability, and Facial anomalies (ICF) syndrome, a heterogenetic primary immunodeficiency caused by at least four different gene defects which result in epigenetic changes in repetitive structures in the genome. He has also made research contributions to other muscular dystrophies including OPMD and LGMD

Onderzoeken

    • Leiden UMC
    • Radboud UMC
    01 Jan 2016

    The role of a novel chromatin modifier in FSHD

    Meer informatie
    • Leiden UMC
    • Radboud UMC
    01 Feb 2020

    Cellular heterogeneity in FSHD

    Meer informatie
    • Leiden UMC
    • Radboud UMC
    01 Sep 2017

    The function of DUX4 in non-muscle tissues

    Meer informatie
    • Leiden UMC
    • Radboud UMC
    01 Jan 2017

    Genetic modifiers of disease progression and severity in FSHD

    Meer informatie
    • Leiden UMC
    • Radboud UMC
    01 Jul 2018

    FSHD: Hypermorphic SMCHD1 variants

    Meer informatie
    • Leiden UMC
    • Radboud UMC
    01 Jan 2015

    FSHD: Modifiers of SMCHD1 expression

    Meer informatie
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