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University Medical Center Groningen

CHARGE syndrome research group at UMCG

Principal investigators and research group

  • Prof. Conny van Ravenswaaij-Arts, MD, PhD, Clinical geneticist
  • Nicole Corsten-Janssen, MD, Clinical geneticist-in-training
  • Monica (T.Y.) Wong, MD, PhD student
  • Christa de Geus, MD, Clinical geneticist-in-training
  • E. Dulfer, MD, Clinical geneticist
  • Gianni Bocca, MD, PhD, Paediatric endocrinologist
  • Mieke Kerstjens, MD, Clinical geneticist
  • Liesbeth Schölvinck, MD, PhD, Paediatric immunologist
  • Deborah Sival, MD, PhD, Paediatric neurologist
  • Rolien Free, MD, PhD, ENT specialist
  • Linda Meiners, MD, PhD, Neuroradiologist
  • Sacha de la Bastide-van Gemert, PhD, Statistician

National collaborations

For the monitoring of CHARGE patients, a multidisciplinary national outpatient clinic has been set up in the UMC Groningen

  • For many projects, we collaborate with Prof. Robert M.W. Hofstra, PhD, head of the clinical genetics department, Erasmus MC, Rotterdam.
  • 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 study on heart defects is being performed in collaboration with L. Kapusta, MD PhD, paediatric cardiologist, Radboud University Medical Centre Nijmegen, and G.J. du Marchie Sarvaas, MD, paediatric cardiologist, UMCG.
  • For the study on cochlear implants we are collaborating with A.C. Vesseur, MD, ENT specialist-in-training, and E.A.M Mylanus, MD, PhD, ENT specialist, both at the Radboud University Medical Centre Nijmegen.
  • 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.

International collaborations

  • Prof. K.P. Steel, Wellcome Trust Sanger Institute, Hinxton, UK – study on anosmia and hypogonadotropic hypogonadism in a mouse model for Kallmann and CHARGE syndrome
  • Prof. K.D Blake, MD, PhD, paediatrician in the IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada – study on sudden death in CHARGE syndrome and growth charts for CHARGE syndrome
  • Prof. L. Tranebjærg, Professor of Medical Genetics and Genetic Audiology, Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine (ICMM), The Panum Institute, University of Copenhagen and Dept of Audiology, Bispebjerg Hospital, both in Copenhagen, Denmark – Molecular studies in CHARGE syndrome and the interpretation of missense mutations, and study on growth charts for CHARGE syndrome
  • Prof. B.S Emanuel, PhD, human geneticist, and S.C. Saitta, MD, PhD, medical geneticist, Children’s Hospital of Philadelphia and Dept of Paediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA – Clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome
  • S. Mehr, MD, PhD, immunologist, Dept of Allergy and Immunology; Prof. M. Wilson, MD, geneticist, Dept of Genetics; Prof. C. Munns, MD, endocrinologist, Dept of Endocrinology, all at the Children’s Hospital at Westmead, Sydney, Australia - Immunological and adrenal function in CHARGE syndrome.
  • Silke Pauli, MD, PhD, Institute of Human Genetics, University of Göttingen, Germany – Other causes for CHARGE and CHARGE-like syndromes
  • Prof. Donna M. Martin, MD, PhD, Ann Arbor, USA – Other causes for CHARGE and CHARGE-like syndromes; function of CHD7
  • Albert Basson, PhD, Dept of Craniofacial Development and Stem Cell Biology at King’s College London, UK – cerebellar abnormalities in CHARGE syndrome
  • Jeremy Kirk, MD, PhD, paediatric endocrinologist, Birmingham Children’s Hospital and Great Ormond Street Hospital, London, UK – 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
  • George Williams, MD, PhD, paediatrician, St. George and Hurstville Private Hospitals, Sydney, and the Children’s Hospital at Westmead, Australia – 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
Last modified:04 June 2015 6.02 p.m.