Prof. dr. Clara van Karnebeek obtained her PhD from the University of Amsterdam in 2002, focusing on the genetic causes of intellectual disability. She then trained as a pediatrician at the Juliana and Emma Children’s Hospitals (2003–2009), followed by specialization in genetics and metabolic diseases in Vancouver, Canada (2009–2011), where she led international research and various centers of expertise until 2017. In 2019, she was appointed Professor of Metabolic Diseases and served for several years as department head at Radboudumc. Since 2021, Clara has been working at Amsterdam UMC, where she and her team are dedicated to precision diagnostics (multi-omics, digital tools), innovative therapies, and personalized care for children with inherited and metabolic diseases. She is the director of 'United for Metabolic Diseases' and the founder of both the Jeroen Pit House and the TCU consortium. In 2022, she was appointed Knight of the Order of Orange-Nassau in recognition of her remarkable dedication to ill children and their families.

Every child and family deserve personalized care. At the Emma CPM, we join forces to deliver precision diagnostics, innovative therapies, and prevention.

Prof. dr. Mieke van Haelst trained as a Clinical Geneticist at Erasmus MC in Rotterdam and University College London. In 2006 she obtained her PhD from UCL and worked in various Clinical Genetics departments in London. From 2008 she was a staff member in the Department of Medical Genetics at UMC Utrecht and has since been a visiting clinical geneticist in the Dutch Caribbean. Since 2016, she has worked at Amsterdam UMC as educator and section head of clinical genetics in the Department of Human Genetics. She is also board member of the European Society of Human genetics and ERN-ITHACA. In 2025, she wrote the book ‘Wat vertelt ons DNA?'.

Her research focuses on understanding the causal (epi)genetic factors that result in rare disorders. She integrates knowledge and methods from different disciplines to develop personalized treatments for rare inherited disorders.

Researchers and doctors join forces: the best individual care & treatment through direct application of scientific research results in practice.

Prof. dr. Riekelt Houtkooper is professor of Translational Metabolism. He conducted PhD research at the Genetic Metabolic Diseases Laboratory of Amsterdam UMC. He received his PhD from the University of Amsterdam in 2009 on research into the rare mitochondrial disease Barth syndrome. During postdoctoral research in Lausanne, Switzerland, he became interested in the metabolic changes that occur during aging.

Since 2012, Riekelt leads his own research group at Amsterdam UMC, location AMC, funded in part by prestigious grants from NWO and the EU. His current research focuses on the fundamental processes that affect metabolism, with the aim of translating this into treatment methods for age-related on the one hand and rare inherited metabolic diseases on the other.

The Emma CPM is a unique way to connect care and science for children with rare inherited diseases.

Prof. dr. Vivi Heine is Professor of Human Model Systems. Her research focuses on developing human models based on induced pluripotent stem cells (iPSCs) to study neuron-glia interactions in genetic brain disorders. She has broad expertise in neurobiology, human stem cell and brain-on-chip technologies, and regenerative medicine. Her laboratory integrates 2D and 3D iPSC-derived cultures with advanced microscopy, electrophysiology, and omics approaches to unravel disease mechanisms and identify therapeutic targets. She also leads the iPSC core services and biobank at Amsterdam UMC.

As human model systems hold great promise for the development of personalized medicines, it is crucial that we join forces and pool our expertise now.

Dr. Nanne Bos is manager and assistant professor at the department of human genetics. As a manager, she has a coordinating role in executing strategic policy, in monitoring progress and in linking all stakeholders. She has specific attention for patients and their families. This is in line with her role as assistant professor in which she focuses on the participation of patients with rare genetic diseases in the activities of Emma CPM. Nanne has a degree in Health Services research (Erasmus University of Rotterdam) and movement sciences (University of Groningen). She has a PhD about the patient perspective in healthcare (Julius Center for health Sciences and Primary Care at the University Medical Center Utrecht).