VAN KARNEBEEK Clara

Professor Clara van Karnebeek is head of the metabolic diseases department in the Radboud University Medical Centre in Nijmegen and principal investigator at the Amsterdam University Medical Centres, The Netherlands and the University of British Columbia in Vancouver Canada.

Clara’s work as a pediatrician and biochemical geneticist focuses on early diagnosis and innovative treatment of neurometabolic diseases in a P4-medicine model. Her international team integrates genomic and metabolomics technologies to unravel the cause of degenerative brain conditions in children, discovering novel genetic conditions and treatment targets. She implements this knowledge in the management of her patients, via clinical trials with personalized outcomes.
Translating new knowledge into expanded newborn screening, as well as useful information and action for the patient and family, using digital applications, are the ultimate goals of her multi-disciplinary team’s effort.

She is the Director of United for Metabolic Diseases (www.umd.nl), a Dutch consortium uniting all 6 academic metabolic expertise centers and the patient organizations to optimize research and care.

She published over 180 peer-reviewed journal articles, multiple clinical guidelines and chapters in textbooks. She is a dedicated teacher and mentor for clinical and research trainees at different stages. For her contributions to research and clinical care and commitment to translational science she received the Canadian Organization for Rare Diseases Scientist Award