Genetics and pathophysiology of neurodevelopmental Disorders

Genetics and pathophysiology of neurodevelopmental Disorders

Neurodevelopmental disorders (NDDs) are a group of diseases that result from abnormalities during brain development that impair brain function. NDDs include intellectual disability and autism-spectrum disorders, which affect 1.5-2% of children or young adults. More than 1,000 genes are known to be involved in monogenic forms of NDD, coding for proteins involved in different cellular processes, with others yet to be identified. Identifying the genes involved in NDD and characterising the consequences of variants occurring in these genes is essential for families to obtain accurate molecular diagnosis and genetic counselling. The gene identities are also critical for researchers to understand the mechanisms important for brain development and  for applicability of potential therapies. The genotype/phenotype correlations and natural history of patients with these different genetic forms are not always well described, and little is known about the pathophysiological mechanisms involved. It is our hope that this knowledge will improve the patient outcomes and to help to develop novel therapeutic approaches.

The team is therefore interested in identifying new genes and new molecular mechanisms involved in NDD, in studying genotype/phenotype correlations and the natural history of patients with NDD, and in dissecting the pathophysiological mechanisms involved in certain frequent genetic mutations (fragile X syndrome, DYRK1A syndrome, etc). In the context of Fragile X syndrome, the team is involved in the development of a gene therapy strategy in collaboration with Lysogene SA. The team works in close interaction at the local level with different research teams from IGBMC and other research centers in Strasbourg and with clinical services from the University Hospital of Strasbourg thus favouring translational application of the research results. The team has also numerous national (IBPS, CRBM, etc) and international collaborations (Sick Children, DGIST, etc) and participates to different research and hospital networks on NDD.


Collaborations and networks

  • Strasand:
  • FHU Neurogenycs:
  • Filière de santé Anddi-Rares
  • Filère de santé Defiscience
  • Juliette Godin, Yann Herault, Izabela Sumara, Nicolas Charlet Berguerand (IGBMC)
  • Hélène Dollfus, Elise Schafer, Salima El Chehadeh (Service de Génétique Médicale, Hôpitaux Universitaire de Strasbourg)
  • Vincent Laugel & Anne de St Martin (Département de Neuropédiatrie, Hôpitaux Universitaire de Strasbourg)
  • Carmen Schroder & Romain Coutelle (Service de Pédo-Psychiatrie, Hôpitaux Universitaire de Strasbourg)
  • Mathieu Anheim, Christine Tranchant (Service de Neurologie, Hôpitaux Universitaire de Strasbourg)
  • Nicolas Vitale (INCI, Strasbourg)
  • Olivier Manzoni (INMED, Marseille)
  • Barbara Bardoni (IMPC, Nice)
  • Alexandra Benchoua (Istem, Evry, France)
  • Dominique Weil & Marianne Bénard (IBPS, Paris)
  • Pierre Parrend (iCube, CNRS and U. of Strasbourg)
  • Damien Sanlaville, Gaetan Lesca (Hospices Civils de Lyon)
  • Fréderic Laumonnier (INSERM, Tours)
  • Rosanna Weksberg & Eric Chater-Diehl (Sick Children Hospital, Toronto, Canada)
  • Michael Lombardo, Simon Baron-Cohen (Cambridge Neuroscience, UK)
  • Victor Ambros (University of Massachusetts Medical School, USA)
  • David Koolen, Tjitske Kleefstra (Radboud University, Nijmegen, Holland)
  • Christel Depienne (Institut für Humangenetik; Essen Germany)
  • Ji-Won Um (Department of Brain and Cognitive Sciences, Daegu, Corea)
  • Vera Kalscheuer (Max Planck Institute for Molecular Genetics, Berlin, Germany)

Funding and partners

  • CNRS
  • Université de Strasbourg
  • Faculté de médecine
  • IUF
  • ANR
  • SATT Conectus
  • Jerome Lejeune Foundation
  • Fondation pour la Recherche Médicale
  • Agence de Biomédecine
  • Fondations Maladies Rares


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Awards and recognitions

  • Prix de thèse - Jeune Chercheur Jérôme Lejeune (2021) : J. Courraud
  • Prix de thèse - Jeune Chercheur Jérôme Lejeune (2017) : F. Mattioli
  • Prix de thèse - Société de Biologie de Strasbourg (2016): A. Quartier
  • Prix de Thèse - Chancellerie des Universités de Paris (2017) : L. Broix
  • Jeune Chercheur Jérôme Lejeune " (2015) : R.Tabet
  • Prix de Thèse - Société des Amis des Universités de l'Académie de Strasbourg (2015) : C. Redin
  • Prix Christian Nezelof (2014) : C. Redin
  • Junior member, Institut Universitaire de France (2018-2022): A. Piton
  • Installation grant FRM new team (2016): H. Moine
  • Maurice Nicloux price Société Française Biochimie et Biologie Moléculaire (1992): H Moine
  • Membre de l’ Académie des Sciences (1999): JL. Mandel
  • Membre de l’Académie Nationale de Médecine (2009): JL. Mandel
  • Chevalier de la légion d’honneur (2008): JL. Mandel
  • Prix Plasticité Neuronale - Fondation IPSEN (2014) : JL. Mandel
  • Prix Klaus Joachim Zülch Foundation Reemtsma / Max Planck Society (2001) : JL Mandel
  • Prix de la Fondation GPA - Académie des sciences (1988) : JL Mandel
  • Membre de l'organisation européenne de biologie moléculaire (EMBO) : JL Mandel
  • Prix de médecine Louis-Jeantet - Fondation Louis-Jeantet  (1999) : JL Mandel
  • Prix Mauro Baschirotto - Société Européenne de Génétique Humaine (1998) : JL Mandel
  • Prix Richard Lounsbery  (1994): JL Mandel
  • Prix International San Remo Société Italienne de Génétique Humaine (1992) : JL Mandel
  • European Molecular Biology Organization (EMBO) (1982) : JL Mandel
  • Prix de la Fondation GPA - Académie des sciences (1988) : : JL Mandel
  • Prix scientifique - Fondation NRJ - Institut de France (2014) : J. Chelly
  • Prix de la recherche – Inserm (2010): J. Chelly
  • Médaille d'argent - CNRS (2002), médaille de Bronze - CNRS (1992) : J. Chelly
  • Grand prix - EDF (2001) : J. Chelly
  • Grand prix de la recherche "Sciences du vivant" - Fondation Bettencourt Schueller (2009) : J. Chelly
  • Prix de la recherche médicale et scientifique - FRM(1999) : J. Chelly
  • Prix Carré-Bessault - Académie des sciences (1992) : J Chelly