The Team
  • Researchers

    Jamel CHELLY

    Anne DE SAINT-MARTIN

    Edouard Franck HIRSCH

    Béatrice LANNES

  • Post-Doctoral Fellows

    Maria Victoria HINCKELMANN RIVAS

  • Phd Students

    Loïc BROIX

    Ekaterina IVANOVA

    Hélène JAGLINE

  • Engineers & Technicians

    Nathalie DROUOT

    Gabrielle RUDOLF

  • Master

    Solveig MONTAUT

  • Trainee

    Marie-Thérèse ABI WARDE

Translational medicine and neurogenetics

Genetics and pathophysiology of neurodevelopmental and Epileptogenic Disorders

Aetiologies of epileptogenic disorders are very heterogeneous and the group of epileptogenic developmental disorders (EDD), are now thought, in many cases, to be related to disruption of genetic factors/programs required for the coordinated timing of proliferation, migration and layering, as well as differentiation and function of neuronal cells.

Over the last few years, our group has significantly contributed in the progress of scientific and medical knowledge regarding subgroups of these disorders. In continuation with our previous studies, we will expand our investigations to focal cortical dyplasia (FCD) disorders, using large-scale complementary genomic studies. Through these genetic approaches we will also explore hypotheses of constitutive and somatic mosaic mutations underlying FCD.

In parallel to these genetic investigations, we will develop complementary functional studies focused on the tubulins and MT-dependent proteins (i.e., KIF5C, KIF2A, DYNC1H1 and TUBG1) recently shown to be involved in MCD spectrum, and develop animal models for FCD. The aim of these studies will be the characterization of disrupted biological and cellular processes whose roles appear to be relevant in brain development and organization. Priority will be given to the analysis of the consequences of depletion by shRNA approach and overexpression of mutated cDNA on progenitors proliferation, neuronal polarization, migration and differentiation. Also, MT-dependent processes such as MT-dependent transport in post mitotic neuronal cells will be thoroughly investigated.

 

  • Current projects

    - Identification of genes and genetic causes underlying malformation of cortical development (MCD) and focal cortical dysplasia (FCD)
    - Caracterization and study of genetic, expression and epigenetic deregulations in the pathogeny of FCD (targeted studies of patients who went through surgical intervention and resection of epileptogenic dysplastic tissus)
    - Definition and understanding of pathophysiological mechanisms underlying MCD using KI and conditional knock out mouse models for Tubg1, Kif2a, Kif5c and Dync1h1

  • Collaborations

    Projects and investigations driven collaborations with groups at the IGBMC
    Nadia Bahi Buisson (Hôpital Necker – IMAGINE. Paris, France)
    Renzo Guerrini (Children's Hospital A. Meyer-University of Florence)
    Izzie Jacques Namer, Service de Neuroimagerie, Hôpital de Hautepierre. Strasbourg. France
    Vincent Laugel, Service de Pédiatrie, Hôpital de Hautepierre. Strasbourg. France
    Mathieu Anheim (Service de Neurologie, Hôpital de Hautepierre. Strasbourg. France)
    Christine Tranchant (Service de Neurologie, Hôpital de Hautepierre. Strasbourg. France)
    Hélène Dollfus, Service de Génétique Médicale, Hôpital de Hautepierre , Strasbourg, France)
    Thierry Bienvenu et Billuart Pierre (Insitut Cochin, Paris France)
    Damien Sanlaville, Hospices Civils de Lyon – Lyon. France
    Gaetan Lesca, Hospices Civils de Lyon – Lyon. France
    Joseph Gleeson (Dept. Neurosciences and Pediatrics, University of California, San Diego).
    Nicolas Cowan (NY University, USA)
    Frédéric Saudou (Institut Curie, Orsay. France)
    Laurent Nguyen (GIGA - Neurosciences, Université de Liège. Belgique)
    David Keays (Institute of Molecular Pathology, Vienna. Austria)
    Gencodys partners (http://www.gencodys.eu/)

  • Prizes/Awards

    • Jamel CHELLY - Scientific prize - Fondation NRJ - Institut de France - 2014
    • Jamel CHELLY - Laureate - Fondation JED - 2013
    • Jamel CHELLY - Research prize - Inserm - 2010
    • Jamel CHELLY - Silver Medal - CNRS - 2002
    • Jamel CHELLY - Grand prize - EDF - 2001
    • Jamel CHELLY - Research prize "Life science" - Fondation Bettencourt Schueller - 1999
    • Jamel CHELLY - Medicale and scientific research award - Fondation pour la Recherche Médicale (FRM) - 1999
    • Jamel CHELLY - Bronze medal - CNRS - 1992
    • Jamel CHELLY - Carré-Bessault prize - Académie des sciences - 1992
  • News

  • Publications

    • De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

      de Lange IM(1), Helbig KL(2), Weckhuysen S(3), Møller RS(4), Velinov M(5), Dolzhanskaya N(5), Marsh E(6), Helbig I(6), Devinsky O(7), Tang S(2), Mefford HC(8), Myers CT(8), van Paesschen W(9), Striano P(10), van Gassen K(1), van Kempen M(1), de Kovel CG(1), Piard J(11), Minassian BA(12), Nezarati MM(13), Pessoa A(14), Jacquette A(15), Maher B(16), Balestrini S(16), Sisodiya S(16), Warde MT(17), De St Martin A(17), Chelly J(18); EuroEPINOMICS-RES MAE working group, van 't Slot R(1), Van Maldergem L(11), Brilstra EH(1), Koeleman BP(1).

      J Med Genet June 29, 2016 .

    • Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.

      Rudolf G(1,)(2,)(3), Lesca G(4,)(5,)(6), Mehrjouy MM(7), Labalme A(4), Salmi M(8,)(9,)(10), Bache I(7,)(11), Bruneau N(8,)(9,)(10), Pendziwiat M(12), Fluss J(13), de Bellescize J(14), Scholly J(3), Møller RS(15,)(16), Craiu D(17), Tommerup N(7), Valenti-Hirsch MP(3), Schluth-Bolard C(4,)(5,)(6), Sloan-Béna F(18), Helbig KL(19), Weckhuysen S(20,)(21,)(22), Edery P(4,)(5,)(6), Coulbaut S(23), Abbas M(23), Scheffer IE(24), Tang S(19), Myers CT(25), Stamberger H(20,)(21,)(22), Carvill GL(25), Shinde DN(19), Mefford HC(25), Neagu E(26), Huether R(27), Lu HM(27), Dica A(17), Cohen JS(28), Iliescu C(17), Pomeran C(17), Rubenstein J(28,)(29), Helbig I(12,)(30), Sanlaville D(4,)(5,)(6), Hirsch E(1,)(2,)(3), Szepetowski P(8,)(9,)(10).

      Eur J Hum Genet June 29, 2016 .

    • A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.

      Curie A(1,)(2,)(3,)(4,)(5), Brun A(1,)(2), Cheylus A(2), Reboul A(2), Nazir T(2), Bussy G(1,)(2), Delange K(1,)(2), Paulignan Y(2), Mercier S(6), David A(6), Marignier S(1), Merle L(7), de Fréminville B(8), Prieur F(8), Till M(9), Mortemousque I(10), Toutain A(10), Bieth E(11), Touraine R(8), Sanlaville D(12), Chelly J(13), Kong J(4), Ott D(4), Kassai B(5), Hadjikhani N(4,)(14), Gollub RL(4), des Portes V(1,)(2,)(3).

      PLoS One Feb. 26, 2016 ; 11:e0149717 .

    • Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.

      Meziane H(1), Khelfaoui M(2), Morello N(3), Hiba B(4), Calcagno E(3), Reibel-Foisset S(5), Selloum M(1), Chelly J(6), Humeau Y(7), Riet F(1), Zanni G(8), Herault Y(1), Bienvenu T(9), Giustetto M(3), Billuart P(10).

      Hum Mol Genet May 4, 2016 .

    • De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

      Laquerriere A(1), Gonzales M(2), Saillour Y(3), Cavallin M(4), Joy? N(2), Qu?lin C(5), Bidat L(6), Dommergues M(7), Plessis G(8), Encha-Razavi F(9), Chelly J(10), Bahi-Buisson N(11), Poirier K(3).

      Eur J Med Genet Apr 2016 ; 59:249-56 .

    • Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

      Massouridès E(1), Polentes J(1), Mangeot PE(2), Mournetas V(3), Nectoux J(4), Deburgrave N(4), Nusbaum P(4), Leturcq F(4), Popplewell L(5), Dickson G(5), Wein N(6), Flanigan KM(6), Peschanski M(3), Chelly J(7), Pinset C(3).

      Skelet Muscle Nov. 14, 2015 ; 5:40 .

    • Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

      Mirzaa GM(1), Conti V(2), Timms AE(3), Smyser CD(4), Ahmed S(5), Carter M(6), Barnett S(7), Hufnagel RB(8), Goldstein A(9), Narumi-Kishimoto Y(10), Olds C(5), Collins S(5), Johnston K(11), Deleuze JF(12), Nitschké P(13), Friend K(14), Harris C(7), Goetsch A(15), Martin B(16), Boyle EA(17), Parrini E(2), Mei D(2), Tattini L(2), Slavotinek A(18), Blair E(19), Barnett C(20), Shendure J(16), Chelly J(21), Dobyns WB(22), Guerrini R(23).

      Lancet Neurol Dec 2015 ; 14:1182-95 .

    • Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

      Zillhardt JL(1,)(2,)(3), Poirier K(1,)(2), Broix L(1,)(2,)(4), Lebrun N(1,)(2), Elmorjani A(1,)(2), Martinovic J(5), Saillour Y(1,)(2), Muraca G(1,)(2), Nectoux J(1,)(2,)(6), Bessieres B(7), Fallet-Bianco C(8,)(9), Lyonnet S(10), Dulac O(11,)(12,)(13), Odent S(14), Rejeb I(15), Jemaa LB(15), Rivier F(16), Pinson L(17), Geneviève D(17), Musizzano Y(18), Bigi N(19), Leboucq N(20), Giuliano F(21), Philip N(22), Vilain C(23), Van Bogaert P(24), Maurey H(25), Beldjord C(6), Artiguenave F(26), Boland A(26), Olaso R(26), Masson C(27), Nitschké P(27), Deleuze JF(26), Bahi-Buisson N(28,)(29), Chelly J(1,)(2,)(3,)(4).

      Eur J Hum Genet Sept. 23, 2015 ; 24:611-614 .

    • Rare ACTG1 variants in fetal microlissencephaly.

      Poirier K(1), Martinovic J(2), Laquerrière A(3), Cavallin M(4), Fallet-Bianco C(5), Desguerre I(6), Valence S(7), Grande-Goburghun J(8), Francannet C(9), Deleuze JF(10), Boland A(10), Chelly J(11), Bahi-Buisson N(12).

      Eur J Med Genet Aug 2015 ; 58:416-8 .

    • Variants in CUL4B are associated with cerebral malformations.

      Vulto-van Silfhout AT(1), Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F, Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D, Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U, Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ, Kalscheuer VM, Kleefstra T, de Brouwer AP.

      Hum Mutat Jan 2015 ; 36:106-17 .

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