My research concentrates on the pathobiochemistry of genetic neurometabolic diseases. We are using an integrated approach based on clinical, biochemical, molecular genetic, magnetic resonance spectroscopy, and imaging analyses to study two disease groups as a model for this. By improving diagnosis, treatment and care and by using evidence based treatment we aim to improve health outcomes of affected individuals.. Our paramount aim is to develop improved treatment strategies, e.g. for individuals with Down syndrome and reduce needless suffering of affected individuals and their parents/caregivers.​