Clara van Karnebeek (professor of Personalized Medicine for Genetic Metabolic Diseases, pediatrician-geneticist and PI at AGEM and AR&D) was selected as one of the six finalists for the 2022 Huibregtsenprize. The prize, an initiative of Stichting De Avond van Wetenschap & Maatschappij, is awarded to a novel research project combining scientific quality with an exceptional contribution to society.

Prof. dr. Van Karnebeek was nominated for her work on United for Metabolic Diseases (UMD) and the Jeroen Pit Huis (JPH). UMD -founded by Prof. dr. van Karnebeek and Prof. dr. Hans Waterham- is a collaboration between six Dutch metabolic academic centers, patient organization VKS, MetaPact (30 other patient organizations) and Stichting Metakids. For many patients, particularly children, UMD has made the difference between a life with or without limitations.

Patients with an inherited metabolic disease deserve an early diagnosis as well as effective and optimal treatment. Detrimental effects of the disease can only be prevented or mitigated through individualized treatment and tailored care. With its motto, ‘Moving forward together’, UMD is a unique, innovative and multidisciplinary collaboration with the common goal to perform innovative and translate research into a healthy future for every individual and family affected by inherited metabolic disease.

The Huibregtsenprize's jury praises Van Karnebeek for bringing together researchers, healthcare providers, patient representatives, government and funders. This new formula has proven to be successful in catalyzing the translation of new technology and knowledge into the right care at the right place for patients. Van Karnebeek has structured Personalized Medicine using a patient-centered catalyst wheel with three pilars: diagnostics, therapy and care. Van Karnebeek is also initiator and co-founder of the Jeroen Pit huis, an innovative transitional care unit operating through a nurse-led care model, bridging the transition from hospital to home for families with children with medical complexities requiring intensive care.

Even though Van Karnebeek did not win the Huibregtsenprijs 2022, her nomination emphasizes the contribution of UMD and JPH to science and society. With other countries joining forces with UMD, this multidisciplinary consortium hopes to be able to improve diagnosis, prevention, treatment and care for many more patients and families with an inherited metabolic disease .

Prof. dr. Van Karnebeek, finalist of the 2022 Huibregtsenprijs
Prof. dr. Van Karnebeek, finalist of the 2022 Huibregtsenprijs