CHARGE syndrome research group at UMCG
Principal investigators and research group
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Marrit Hitzert, MD, PhD, Clinical Geneticist
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Dieuwerke Dijk, MD, physician for ID
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Tjitske Hielkema, MD, PhD, Paediatric rehabilitation specialist
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Gianni Bocca, MD, PhD, Paediatric endocrinologist
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Rolien Free, MD, PhD, ENT specialist
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Linda Meiners, MD, PhD, Neuroradiologist
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Sacha de la Bastide-van Gemert, PhD, Statistician
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Prof. Adelita Ranchor, PhD, Health Psychologist
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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
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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).
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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.
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The CHARGE team of Kentalis in Sint Michielsgestel is specialist in behaviour and education in CHARGE syndrome
International collaborations
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Prof. K.D Blake, MD, PhD, paediatrician in the IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada
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Prof. Donna M. Martin, MD, PhD, Ann Arbor, USA – a.o. Growth charts for CHARGE syndrome
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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
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Brittany Simpson, MD, clinical geneticist, Cincinnati Children’s Hospital, Cincinnati, USA. – growth charts for CHARGE syndrome
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Prof. Véronique Abadie, MD, PhD, clinical geneticist, Hôspital Necker-Enfants Malades, Paris, France – Growth charts for CHARGE syndrome
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Prof. Helmut Dörr, MD, PhD, paediatrician, Universitätsklinikum Erlangen, Germany – Growth charts for CHARGE syndrome
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Lucia Santoro, MD, PhD, paediatrician, Azienda Ospedali Riuniti, Ancona, Italy – Growth charts for CHARGE syndrome
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Tim Hartshorne, PhD, psychologist, Central Michigan University, USA – Expert on behavioural issues in CHARGE syndrome
Last modified: | 08 May 2024 2.46 p.m. |