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 to protein, to tissue and ultimately the patient is very important.

In Leiden she is now assistant professor at the Human Genetics Department of the LUMC and studies transcriptional changes in cell models of HD. These studies have successfully been extended to protein profiling and gene expression profiling in blood from HD patients. 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. A major line of her research is the development of therapeutic strategies for HD and other neurodegenerative disorders. Small antibodies (VHH), specific for the huntingtin protein, are being selected and expressed intracellular to investigate if binding of these antibodies reduce mutant huntingtin toxicity. Finally, she is investigating if the use of antisense oligonucleotides is a promising therapeutic tool for HD and other neurodegenerative disorders. The first antisense oligonucleotide approach is to reduce mutant huntingtin transcript levels and the second approach uses exon skipping to modify mutant huntingtin toxicity. These studies have now extended to using exon skipping to modify protein toxicity in other polyglutamine disorders and Alzheimer disease.

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 meetings and patient associations. Has (co-) authored more than 35 research papers and 4 book chapters and is the main inventor on a patent application concerning exon skipping for neurodegenerative diseases.