Professor Clara VAN KARNEBEEK is Director of the Emma Personalized Medicine Center and principal investigator at the Amsterdam University Medical Centres, The Netherlands and affiliated with 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 and adults, discovering novel genetic conditions and treatment targets. She implements this knowledge in the management of her patients, via experimental therapies and 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, a Dutch consortium uniting all 6 academic metabolic expertise centers and the patient organizations to optimize research and care. Clara has founded the Jeroen Pit Huis as an innovative model of transmural care for children with medical complexities in Amsterdam NL.
She published over 230 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, the Huibregtsenprijs nomination 2022 and was recently knighted as Ridder in de Orde van Oranje Nassau for her outstanding contributions to society in the Netherlands.