The Neuro-D research group in the department of Human Genetics at the LUMC studies the molecular pathogenesis of several neurodegenerative protein aggregation disorders, including Huntington’s disease (HD), spinocerebellar ataxia types 1 (SCA1) and 3 (SCA3), Dutch cerebral amyloid angiopathy (D-CAA), and Alzheimer’s disease (AD).
We focus strongly on translational research of molecular medicine, using patient material as well as cell, animal and induced pluripotent stem cell (iPSC) models. Our aim is to unravel disease pathologies, and discover and test potential novel drug targets and therapies. Similarly, we are seeking the identification of biomarkers for disease stage and progression. To do this we implement novel sequencing technologies and biosemantic analysis methods, making optimal use of novel and existing data sets. For this we collaborate closely with clinical departments at the LUMC.
Our research concentrates on transcriptomic, metabolomic and protein biomarker discovery in biological patient samples and animal models. Our aim is to better understand the molecular mechanisms of protein toxicity using genomic and proteomic approaches in disease models and patient material. We have optimized transcriptome sequence profiling to identify genes that affect disease progression and common disease signatures. We are also investigating the regulation of mutant RNA and protein expression and linking this to disease pathology.
Figure: Translational research from bench to bed side