Clara van Karnebeek, MD PhD FCCMG works as principle investigator and paediatrician-biochemical geneticist at the Academic Medical Centre, Amsterdam, the Netherlands. She is affiliated as Associate Professor with the University of British Columbia in Canada.
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 on pyridoxine-dependent epilepsy 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 105 peer-reviewed journal articles, multiple clinical guidelines and several 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 paediatrics. 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).
If you are interested in paediatrics, make sure you attend Clara van Karnebeeks lecture on Tuesday 4:50 p.m.