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Epigenetic mechanisms in health and disease
  1. S M van der Maarel
  1. Dr S M van der Maarel, Leiden University Medical Centre, Department of Human Genetics, Postzone S4-P, Albinusdreef 2, 2333 ZA Leiden, The Netherlands; maarel{at}


Epigenetic modifications of our genome involve DNA methylation, covalent modifications of the histone tails, nucleosome occupancy and turnover and higher-order chromatin folding. These mitotically heritable epigenetic modifications can affect transcription regulation and are increasingly recognised to be causally involved in a broad spectrum of human conditions, ranging from monogenic to multifactorial disorders. While our understanding of these epigenetic disease mechanisms steadily increases, the challenge will be to develop new drugs that specifically deal with the epigenetic lesion.

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  • Funding: Our FSHD research is supported by grants from the Netherlands Organisation for Scientific Research (NWO 016.056.338), the Muscular Dystrophy Association USA (4318), the FSH Society, the National Institutes of Health and the Fields Centre for FSHD and Neuromuscular Research.

  • Competing interests: None.

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