Sarah Weckhuysen MD, PhD

Sarah Weckhuysen's primary focus of the research group is the identification of novel genes and genetic mechanisms implicated in epilepsy. Epilepsies are a heterogeneous group of seizure disorders affecting approximately 50 million people worldwide, making them one of the most common neurological disorders. While 70% of people with epilepsy can be treated with currently available anti-epileptic drugs, 30% continue to present seizures despite multiple drug trials. Developmental and epileptic encephalopathies (DEEs) are a severe subgroup, characterized by the early onset of often refractory epilepsy, and associated developmental delay. Treatment of these patients is a particular challenge, as no drugs are currently available that target developmental problems. The DEEs are of specific interest to their group, as they strongly believe that the study of the underlying genetic mechanisms can be the entry point for the development of more potent, targeted therapies.