Medical and health sciences
Precision medicine is emerging as an approach in which individual variability in genes, environment and lifestyle factors are taken into account for personalized treatment, prevention and care. The present research proposal can be placed in the context of precision medicine of rare neurodegenerative brain disorders (NBD). These NBDs constitute a heterogeneous group of ofte
genetic disorders characterized by progressive cognitive and/or movement dysfunctions. Our research program will integrate genetic studies in humans, mice, flies and single cells to tackle several important challenges in the field of NBD-related precision medicine. First, we will establish a multidisciplinary clinical neurogenetics program at the Center for Medical Genetics Ghent -University Hospital of Ghent with a strong emphasis on novel high-throughput sequencing technologies in order to increase diagnostic accuracy and speed for patients with undiagnosed rare monogenic NBDs. Second, as such approaches typically result in lists with multiple candiate disease variants, we will use model organisms (including fruit flies) to study the potential pathogenic nature and mechanisms of novel NBD-related genetic variants. Third, we will use single-cell sequencing to address the hypothesis that genetic variation in individual brain cells acquired during life could contribute to the neurodegenerative process. Together, these genetic approaches should lead to a more personal and better care of patients with NBD.