Neurogenetics Research Group
The aim of the group is to identify and characterize the underlying causes, biomarkers and predictors of neurological disease, with a focus on epilepsy, movement disorders, and musculoskeletal disease and pain. With the access to detailed clinical and molecular data from clinical trials and large population databases, we aim to translate our results into knowledge enabling personalized treatment for the patients.
One research approach is to identify key steps of pathophysiology through the identification and functional characterization of genetic causes of monogenic disorders, such as epileptic encephalopathies, hereditary ataxia and hereditary spastic paraplegias. However, even in relatively homogenous patient groups, a main challenge in clinical practice remain the vast variation in clinical expression, clinical course and treatment response. We are addressing this through a system biology approach, i.e. through integrated analyses of a range of data sets reflecting different molecular layers, such as genomic, epigenomic, and metabolomic data, where we aim at identifying biomarkers and predictors of disease and treatment response.
Our projects warrant multidisciplinary competence, which is reflected in the background of our group members and collaborators who are geneticists, neurologists, engineers, mathematicians, bioinformaticians, molecular biologists, pharmacologists, nutritionists, pediatricians and pathologists.