Neurogenetics Research Group

Kaja Kristine SelmerGroup leader
Kaja Kristine Selmer
Group leader

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. 

Research projects

  • Epilepsy in Children: The Impact of the Gut Microbiota and Epigenetics in Successful Dietary Treatment
  • Genetic mosaicism in focal epilepsy: Creating a platform for precision medicine in mosaic disorders
  • Pharmacokinetic interactions between ketogenic diet and anti-epileptic drugs in children
  • Long-term impact of dietary treatment in children and adolescents
  • Dietary treatment of adult patients with epilepsy
  • Epigenetics of epilepsy development 
  • Epigenetics of juvenile myoclonic epilepsy
  • Clinical and molecular characterization of hereditary ataxia and hereditary spastic paraplegia 
  • Translational pharmaco-omics: A system biology approach to identify underlying mechanisms of variation treatment response in neurological disease