Clara van Karnebeek, MD PhD FCCMG

Clara van Karnebeek, MD PhD FCCMGworks as principal investigator and pediatrician-biochemical geneticist in the Amsterdam University Medical Centres, The Netherlands. She is affiliated as Associate Professor with the University of British Columbia. 

Clara’s research is dedicated to promoting early diagnosis and treatment of neurometabolic diseases in intellectual developmental disorder patients. She holds major research grants and her international TIDEX team integrates genomic and metabolomics technologies to unravel neurometabolic phenotypes, discovering novel genetic conditions with a focus on the identification of novel treatment targets and improving management. Translating big data into useful information and action for the patient and family is the ultimate goal of her multi-disciplinary team’s work. She investigates metabolic epilepsies and phenotypic modifiers of neurodegenerative disease. The use of digital apps to facilitate early diagnosis and treatment is one of her team’s innovative activities.

She published over 130 peer-reviewed journal articles, multiple clinical guidelines and chapters in textbooks. She created digital tools to diagnose and care for patients with inborn errors of metabolism. Clara is regularly invited for keynote lectures at international conferences for professional societies in neurology, genetics and pediatrics. She is a dedicated teacher and mentor for clinical and research trainees at different stages. Her contributions to research and clinical care and commitment to translational science have been recognized by the Canadian Organization for Rare Diseases (Scientific Award 2016), the University of British Columbia Faculty of Medicine (Overall Excellence Early Career Award 2016) and Youth Women Children Association (Woman of Distinction Award nominee 2017); she has recently joined the diagnostic committee for the International Rare Diseases Research Consortium. 

Lab webpage:  

Please feel free to share this...