Willeke van Roon-Mom

Dr. Willeke van Roon-Mom did her masters in Medical Biology at the University of Groningen. During her studies she got fascinated by how the brain functions, and what causes neurodegenerative diseases. This fascination led to her PhD studies at the University of Auckland, in New Zealand, where she studied changes in the human brain caused by Huntington disease. In her career, the translational aspect from genome, to transcriptome, protein, tissue and ultimately the patient has been very important. In Leiden she is now Professor at the Human Genetics Department of the LUMC and studies transcriptional changes in both cell models of HD and HD patient material. Aim of these studies is to unravel novel biomarkers of HD disease progress and pathology. Another line of research concerns studying epigenetic changes in HD and the regulation of transcription at the HTT locus. To this end, the levels of transcription at the HTT locus and differences in binding of DNA binding proteins is studied in patient derived cells. Additionally, the development of therapeutic strategies for HD and other neurodegenerative disorders are being investigated. Small antibodies (VHH), specific for the huntingtin protein and the use of antisense oligonucleotides as a therapeutic tool for HD and other neurodegenerative disorders are being studied. This has led to several therapeutic strategies for Spinocerebellar Ataxia type 3 and functional studies of the ataxin-3 protein. Willeke is a board member of the Dutch Huntington Disease Research Network, an active participant of the European Huntington Disease Research Network and participates in several European collaborations. She gives regular presentations at international scientific meetings and patient associations and is the main inventor on a patent application concerning exon skipping for neurodegenerative diseases.

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