CHARGE syndrome research group at UMCG

Principal investigators and research group

• Marrit Hitzert, MD, PhD, Clinical Geneticist
• Dieuwerke Dijk, MD, physician for ID
• Tjitske Hielkema, MD, PhD, Paediatric rehabilitation specialist
• Gianni Bocca, MD, PhD, Paediatric endocrinologist
• Rolien Free, MD, PhD, ENT specialist
• Linda Meiners, MD, PhD, Neuroradiologist
• Sacha de la Bastide-van Gemert, PhD, Statistician
• Prof. Adelita Ranchor, PhD, Health Psychologist
• Prof. Conny van Ravenswaaij-Arts, MD, PhD, Clinical geneticist

National collaborations

For the monitoring of CHARGE patients, a multidisciplinary centre of expertise has been set up in the UMC Groningen

• DNA analysis of the CHD7 gene is performed in the DNA diagnostics laboratories of the Radboud University Medical Centre Nijmegen (T. Rinne, PhD) and Erasmus MC (L.H. Hoefsloot, PhD).
• The online database has been constructed in collaboration with Prof M.A. Swertz, of the Genomics Coordination Center, a joint venture of the Department of Genetics, UMCG, and the Groningen Bioinformatics Center, University of Groningen, the Netherlands.
• The CHARGE team of Kentalis in Sint Michielsgestel is specialist in behaviour and education in CHARGE syndrome

International collaborations

• Prof. K.D Blake, MD, PhD, paediatrician in the IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada
• Prof. Donna M. Martin, MD, PhD, Ann Arbor, USA – a.o. Growth charts for CHARGE syndrome
• Meg Hefner, PhD, genetic counsellor, St. Louis University, St. Louis, MO, USA and coordinator of the CHARGE Syndrome Clinical Database Project (CSCDP) of the International CHARGE Foundation – Growth charts for CHARGE syndrome
• Brittany Simpson, MD, clinical geneticist, Cincinnati Children’s Hospital, Cincinnati, USA. – growth charts for CHARGE syndrome
• Prof. Véronique Abadie, MD, PhD, clinical geneticist, Hôspital Necker-Enfants Malades, Paris, France – Growth charts for CHARGE syndrome
• Prof. Helmut Dörr, MD, PhD, paediatrician, Universitätsklinikum Erlangen, Germany – Growth charts for CHARGE syndrome
• Lucia Santoro, MD, PhD, paediatrician, Azienda Ospedali Riuniti, Ancona, Italy – Growth charts for CHARGE syndrome
• Tim Hartshorne, PhD, psychologist, Central Michigan University, USA – Expert on behavioural issues in CHARGE syndrome

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