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Projets de recherche

EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE) Universitätsklinikum Magdeburg A.ö.R MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases Hospital Universitario Fundación Jiménez Díaz Servicio de Genética Clínica

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

The Deciphering Developmental Disorders (the DDD study) Wellcome Trust Sanger Institute DECIPHER

Identification et caractérisation des gènes prédisposant aux anomalies du tube neural Lsu Health Sciences Center Neurosciences

Genetic Susceptibility of Congenital Hydrocephalus Sanford Research Lee Lab

Folic acid; parental mutation rates and the risk for neural tube defects Institution: Information not provided - US

Project 3. embryonic reactive oxidative-nitrosative stress and ntd risk Institution: Information not provided - US

Therapeutic strategies for preclinical treatment of L1 syndrome Universitätsmedizin Mainz Klinik für Anästhesiologie

Genetics of cortical malformations Universitätsklinikum Carl Gustav Carus an der TU Dresden Institut für Klinische Genetik

Functional and identification studies of therapeutic strategies in intellectual disability: TRIM28, TRAF7 and MAGEL2 Universitat de Barcelona. Facultat de Biologia Departamento de genética molecular humana

Deciphering the genetic complexity of congenital hypopituitarism INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ) Sección de Endocrinología Molecular

Mechanisms of retinal degeneration in inherited diseases Institution: Information not provided - US

Genetic analysis of a microrna pathway regulating neural tube closure Institution: Information not provided - US

Pathological mechanisms of human cerebeller malformations Institution: Information not provided - US

Zfp423 mechanisms in joubert syndrome and related disorders Institution: Information not provided - US

Project 3: contribution of autoimmune and inflammatory responses to ntds Institution: Information not provided - US

FinnDisMice- Mouse Models for Finnish Disease Heritage University of Helsinki

SCD-Mec: Mécanismes développementaux des anomalies structurelles cérébelleuses IMAGINE - Institut des Maladies Génétiques Equipe "Bases moléculaires et physiopathologiques des troubles cognitifs"

Joubert syndrome and other genetic cerebellar malformations. In vivo analysis in animal models IRCCS Ospedale San Raffaele U.O. di Genetica dello Sviluppo Neurale

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods Karolinska Institutet - Solna Department of Molecular Medicine and Surgery

Non-muscular actinopathies: Baraitser-Winter Cerebrofrontofacial syndrome and related disorders Universitätsklinikum Carl Gustav Carus an der TU Dresden Institut für Klinische Genetik

Molecular mechanisms underlying Zic2-associated holoprosencephaly Instituto de Neurociencias de Alicante (CSIC-UMH) Unidad de Neurobiología del Desarrollo

Genetics of brain development Institution: Information not provided - US

Mechanisms regulating neural progenitor expansion in the developing brain Institution: Information not provided - US

Fetal tissue engineering to treat spina bifida before birth Institution: Information not provided - US

Intervention strategies for non-folate responsive neural tube defects Institution: Information not provided - US

Molecular basis for individual susceptibility to neural tube defects Institution: Information not provided - US

Cadherin interactions in ectodermal derivative fate specification Institution: Information not provided - US

Folate-p53 interactions in neural tube defects Institution: Information not provided - US

Project 1. gene variants and their interactions defining human ntd risk Institution: Information not provided - US

Project 2. quantitative assessment of oxidative stress and 1-c trafficking defects as a basis for ntd risk Institution: Information not provided - US

Genetic factors in birth defects Institution: Information not provided - US

Project 2: role of oxidative/nitrosative stress in folate-preventable ntds Institution: Information not provided - US

Hétérotopies laminaires sous-corticales et lissencéphalies: corrélations radio-cliniques et mutations dans le gène double cortine CHU Paris IdF Ouest - Hôpital Raymond Poincaré Unité : Neurologie Pédiatrique

HETER-OMICS: Interrogatoire Multi-OMICS des malformations corticales cérébrales - FR Institut de neurobiologie de la méditerranée (INMED) Bases moléculaires et physiopathologie des malformations du cortex cérébral

L1-CAM-disease (CRASH syndrome): expression and synaptic role of expression and synaptic role of L1-CAM and its mutations; pharmacology of its signalling IRCCS Ospedale Policlinico San Martino - IST - DIMI Dipartimento di Medicina Sperimentale

Identification of genes for Primordial Dwarfism (MOPD I, MOPD II, Seckel syndrome, Meier-Gorlin syndrome and Dubowitz syndrome), and Primary Microcephaly (with short stature) Western General Hospital MRC Human Genetics Unit

Generation of induced pluripotent stem (ips) cell lines from somatic cells of participants with eye diseases and from somatic cells of matched controls Institution: Information not provided - US

The role of dystroglycan in neural circuit development. Institution: Information not provided - US

Functional mechanisms underlying dystroglycan-dependent and independent roles of protein o-mannosylation in the nervous system Institution: Information not provided - US

The role of arl13b in transcription-independent sonic hedgehog regulation of axon guidance Institution: Information not provided - US

Genetic architecture and molecular pathogenesis of joubert syndrome Institution: Information not provided - US

Development ofa new molecular targeted therapy for Fukuyama muscular dystrophy Kobe University Graduate School of Medicine Department of Pediatrics

Pre-clinical study of Fukuyama muscular dystrophy antisense nucleic acid drug aiming for regulatory approval and natural history and biomarker search and preparation of trial protocol Kobe University Graduate School of Medicine Division of Neurology/Molecular Brain Science

Investigation of molecular pathogenesis and development of therapeutic strategy of Fukuyama congenital muscular dystrophy based on pathophysiological function of a novel ribitol-phosphate moiety Kobe University Graduate School of Medicine

Qualitative In-depth Interviews With Women and Their Partners Concerning the Acceptability of Fetal Surgery - BE UZ Leuven - Campus Gasthuisberg Dienst Gynaecologie en Verloskunde / Clinical Department of Obstetrics and Gynaecology

Personalized medicine in the genetic defects of neurotransmission in pediatrics. New approach based on the metabolism of the neuronal synapse (amino acid mediated neurotransmission diseases) Hospital Sant Joan de Déu Barcelona Unidad de Enfermedades Metabólicas Congénitas

The contribution folate and vitamin b12 genes to disease. Institution: Information not provided - US

Stem cell-based biomaterials for spinal cord regeneration in neural tube defects Institution: Information not provided - US

Projets de recherche multicentriques

International Clearinghouse for Birth Defects Monitoring Systems Universitätsklinikum Magdeburg A.ö.R MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

CIEN: Spanish Network for Cooperative Research in Neurological diseases Hospital Universitari de Bellvitge Unidad de Neuropatología

DESIRE: Development and Epilepsy - Strategies for innovative research to improve diagnosis, prevention and treatment in children with difficult to treat epilepsy Azienda Ospedaliera Universitaria Anna Meyer Neurologia Pediatrica

EUROMICRO: Primary monogenic microcephalies : from genetics to pathophysiology and the clinic CHU Paris - Hôpital Robert Debré UF de Génétique clinique

Néphropathies kystiques du foetus et syndromes apparentés Hôpital Necker-Enfants Malades Néphropathies héréditaires et rein en développement

TUB-GENCODEV: Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development Institut Cochin (INSERM U 1016 - CNRS UMR 8104) Equipe "Génétique et physiopathologie de maladies neurodéveloppementales et neuromusculaires"

National Autozygosity Mapping Resource Birmingham Women's NHS Foundation Trust Medical and Molecular Genetics, Norton Court

National Autozygosity Mapping Resource University of Birmingham Department of Medical and Molecular Genetics

Réseau d'étude des retards mentaux et déficits cognitifs monogéniques Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

HETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations IFM - Institut du Fer à Moulin Equipe " Développement cortical et pathologie "

Réseau pluridisciplinaire des malformations du système nerveux central et de ses enveloppes CHU de Montpellier - Hôpital Gui de Chauliac Unité de Recherche sur les Mouvements Anormaux

Italian Network Promotion Folic Acid ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

EUROSTEC: soft tissue engineering for congenital birth defects: New treatment modalities for spina bifida, urogenitial and abdominal wall defects (COMPLETED) Radboudumc - Radboud universitair medisch centrum Afdeling Kinderurologie

EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz

Servicio de Genética Clínica

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute

DECIPHER

Identification et caractérisation des gènes prédisposant aux anomalies du tube neural
Lsu Health Sciences Center

Neurosciences

Genetic Susceptibility of Congenital Hydrocephalus
Sanford Research

Lee Lab

Folic acid; parental mutation rates and the risk for neural tube defects
Institution: Information not provided - US

Project 3. embryonic reactive oxidative-nitrosative stress and ntd risk
Institution: Information not provided - US

Therapeutic strategies for preclinical treatment of L1 syndrome
Universitätsmedizin Mainz

Klinik für Anästhesiologie

Genetics of cortical malformations
Universitätsklinikum Carl Gustav Carus an der TU Dresden

Institut für Klinische Genetik

Functional and identification studies of therapeutic strategies in intellectual disability: TRIM28, TRAF7 and MAGEL2
Universitat de Barcelona. Facultat de Biologia

Departamento de genética molecular humana

Deciphering the genetic complexity of congenital hypopituitarism
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)

Sección de Endocrinología Molecular

Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

Genetic analysis of a microrna pathway regulating neural tube closure
Institution: Information not provided - US

Pathological mechanisms of human cerebeller malformations
Institution: Information not provided - US

Zfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US

Project 3: contribution of autoimmune and inflammatory responses to ntds
Institution: Information not provided - US

FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki

SCD-Mec: Mécanismes développementaux des anomalies structurelles cérébelleuses
IMAGINE - Institut des Maladies Génétiques

Equipe "Bases moléculaires et physiopathologiques des troubles cognitifs"

Joubert syndrome and other genetic cerebellar malformations. In vivo analysis in animal models
IRCCS Ospedale San Raffaele

U.O. di Genetica dello Sviluppo Neurale

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna

Department of Molecular Medicine and Surgery

Non-muscular actinopathies: Baraitser-Winter Cerebrofrontofacial syndrome and related disorders
Universitätsklinikum Carl Gustav Carus an der TU Dresden

Institut für Klinische Genetik

Molecular mechanisms underlying Zic2-associated holoprosencephaly
Instituto de Neurociencias de Alicante (CSIC-UMH)

Unidad de Neurobiología del Desarrollo

Genetics of brain development
Institution: Information not provided - US

Mechanisms regulating neural progenitor expansion in the developing brain
Institution: Information not provided - US

Fetal tissue engineering to treat spina bifida before birth
Institution: Information not provided - US

Intervention strategies for non-folate responsive neural tube defects
Institution: Information not provided - US

Molecular basis for individual susceptibility to neural tube defects
Institution: Information not provided - US

Cadherin interactions in ectodermal derivative fate specification
Institution: Information not provided - US

Folate-p53 interactions in neural tube defects
Institution: Information not provided - US

Project 1. gene variants and their interactions defining human ntd risk
Institution: Information not provided - US

Project 2. quantitative assessment of oxidative stress and 1-c trafficking defects as a basis for ntd risk
Institution: Information not provided - US

Genetic factors in birth defects
Institution: Information not provided - US

Project 2: role of oxidative/nitrosative stress in folate-preventable ntds
Institution: Information not provided - US

Hétérotopies laminaires sous-corticales et lissencéphalies: corrélations radio-cliniques et mutations dans le gène double cortine
CHU Paris IdF Ouest - Hôpital Raymond Poincaré

Unité : Neurologie Pédiatrique

HETER-OMICS: Interrogatoire Multi-OMICS des malformations corticales cérébrales - FR
Institut de neurobiologie de la méditerranée (INMED)

Bases moléculaires et physiopathologie des malformations du cortex cérébral

L1-CAM-disease (CRASH syndrome): expression and synaptic role of expression and synaptic role of L1-CAM and its mutations; pharmacology of its signalling
IRCCS Ospedale Policlinico San Martino - IST - DIMI

Dipartimento di Medicina Sperimentale

Identification of genes for Primordial Dwarfism (MOPD I, MOPD II, Seckel syndrome, Meier-Gorlin syndrome and Dubowitz syndrome), and Primary Microcephaly (with short stature)
Western General Hospital

MRC Human Genetics Unit

Generation of induced pluripotent stem (ips) cell lines from somatic cells of participants with eye diseases and from somatic cells of matched controls
Institution: Information not provided - US

The role of dystroglycan in neural circuit development.
Institution: Information not provided - US

Functional mechanisms underlying dystroglycan-dependent and independent roles of protein o-mannosylation in the nervous system
Institution: Information not provided - US

The role of arl13b in transcription-independent sonic hedgehog regulation of axon guidance
Institution: Information not provided - US

Genetic architecture and molecular pathogenesis of joubert syndrome
Institution: Information not provided - US

Development ofa new molecular targeted therapy for Fukuyama muscular dystrophy
Kobe University Graduate School of Medicine

Department of Pediatrics

Pre-clinical study of Fukuyama muscular dystrophy antisense nucleic acid drug aiming for regulatory approval and natural history and biomarker search and preparation of trial protocol
Kobe University Graduate School of Medicine

Division of Neurology/Molecular Brain Science

Investigation of molecular pathogenesis and development of therapeutic strategy of Fukuyama congenital muscular dystrophy based on pathophysiological function of a novel ribitol-phosphate moiety
Kobe University Graduate School of Medicine

Qualitative In-depth Interviews With Women and Their Partners Concerning the Acceptability of Fetal Surgery - BE
UZ Leuven - Campus Gasthuisberg

Dienst Gynaecologie en Verloskunde / Clinical Department of Obstetrics and Gynaecology

Personalized medicine in the genetic defects of neurotransmission in pediatrics. New approach based on the metabolism of the neuronal synapse (amino acid mediated neurotransmission diseases)
Hospital Sant Joan de Déu Barcelona

Unidad de Enfermedades Metabólicas Congénitas

The contribution folate and vitamin b12 genes to disease.
Institution: Information not provided - US

Stem cell-based biomaterials for spinal cord regeneration in neural tube defects
Institution: Information not provided - US

International Clearinghouse for Birth Defects Monitoring Systems

Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

CIEN: Spanish Network for Cooperative Research in Neurological diseases

Hospital Universitari de Bellvitge

Unidad de Neuropatología

DESIRE: Development and Epilepsy - Strategies for innovative research to improve diagnosis, prevention and treatment in children with difficult to treat epilepsy

Azienda Ospedaliera Universitaria Anna Meyer

Neurologia Pediatrica

EUROMICRO: Primary monogenic microcephalies : from genetics to pathophysiology and the clinic

CHU Paris - Hôpital Robert Debré

UF de Génétique clinique

Néphropathies kystiques du foetus et syndromes apparentés

Hôpital Necker-Enfants Malades

Néphropathies héréditaires et rein en développement

TUB-GENCODEV: Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development

Institut Cochin (INSERM U 1016 - CNRS UMR 8104)

Equipe "Génétique et physiopathologie de maladies neurodéveloppementales et neuromusculaires"

National Autozygosity Mapping Resource

Birmingham Women's NHS Foundation Trust

Medical and Molecular Genetics, Norton Court

National Autozygosity Mapping Resource

University of Birmingham

Department of Medical and Molecular Genetics

Réseau d'étude des retards mentaux et déficits cognitifs monogéniques

Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

HETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations

IFM - Institut du Fer à Moulin

Equipe " Développement cortical et pathologie "

Réseau pluridisciplinaire des malformations du système nerveux central et de ses enveloppes

CHU de Montpellier - Hôpital Gui de Chauliac

Unité de Recherche sur les Mouvements Anormaux

Italian Network Promotion Folic Acid

ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

EUROSTEC: soft tissue engineering for congenital birth defects: New treatment modalities for spina bifida, urogenitial and abdominal wall defects (COMPLETED)

Radboudumc - Radboud universitair medisch centrum

Afdeling Kinderurologie