Prof. Dr. D.S. Verbeek
The research of Dineke Verbeek is focused on unraveling the genetics and biological pathways leading to various movement disorders including spinocerebellar ataxia (SCA) and dystonia using the latest sequencing technologies and unique disease models. In recent years, she started to combine genetics with functional research and generated disease models for novel SCA types including various cell models expressing mutant proteins as well as in vivo models. These models are used to substantiate the genetic findings and to reveal the molecular mechanisms leading to cerebellar neurotoxicity and neurodegeneration. Additionally, the use of bioinformatics analysis on gene co-expression and co-functionally networks of known disease genes has opened doors to the identification of novel disease genes and shared biological pathways. The work of Dineke Verbeek has led amongst others to the identification of the SCA19 (KCND3) and SCA23 (PDYN) gene and showed that aberrant neurotransmission via potassium and opioid signaling play a major role in the pathogenesis of SCA. Dineke is member of the Medical Advisory Board of the Dutch ataxia society (www.ataxie.nl).