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Projetos de investigação

Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation Institut für Humangenetik am Universitätsklinikum Jena Institut für Humangenetik

Detection of chromosomal abnormalities and mutations by high throughput sequencing CHU de Dijon - Plateau technique de Biologie Laboratoire de génétique chromosomique et moléculaire

Improving quality standards in Italian laboratories performing genetic testing for rare diseases ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

Chromosomal anomaly Karolinska Universitetssjukhuset - Solna Department of Clinical Genetics (Klinisk genetik)

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

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer Hospital for Sick Children, Research Institute

Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases Fundación Jiménez Díaz Área de Genética y Genómica

A powerful web-based discovery platform for rare disease genetics Institution: Information not provided - US

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR Muséum National d'Histoire Naturelle Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health - FR Institut de Recherche en Santé - Université de Nantes L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine Research Institute of Environmental Medicine, Nagoya University

Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability Research Institute of Environmental Medicine, Nagoya University

Formation of integrated omics analysis base of refractory diseases in children and perinatal period National Center for Child Health and Development Research Institute

DoseX : Regulation and function of gene dosage compensation on the X chromosome - FR Institut Pasteur Génomique et Epigénomique du Développement des Animaux - CNRS UMR3738

Functional Dissection of Small RNA Pathways that Impact Chromatin University of Toronto Department of Molecular Genetics

Memory measures for clinical trials in down syndrome and fragile x syndrome Institution: Information not provided - US

Noninvasive prenatal aneuploidy testing by targeted massively parallel sequencing of maternal plasma CHU de Dijon - Plateau technique de Biologie Laboratoire de génétique chromosomique et moléculaire

Targeting aberrant Cl- homeostasis and GABAergic transmission in Down syndrome to design innovative therapeutic approaches Istituto Italiano di Tecnologia Dipartimento di Neuroscience e Tecnologie del Cervello

Genetic and metabolic regulation of the cell redox state in down syndrome:role of the ubiquitin-proteasome system, of mitochondrial metabolism, of mi RNAs, and protective effect of natural anti-oxidant compounds Consiglio Nazionale delle Ricerche Istituto di Biomembrane e Bioenergetica

Down syndrome: clinical, epidemiological and molecular characterisation Uppsala Universitet Department of immunology, Genetics and Pathology, IGP

The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2 Montreal Children's Hospital Research Institute - McGill University Department of Pediatrics / Département de pédiatrie

Identification of the signaling pathways that allow the correction of congenital heart disease "in utero" in a natural way. Bases for prenatal therapy Hospital Universitario Son Espases Unidad de Diagnostico Molecular y Genética Clinica

Comprehensive genomic characterization of hereditary myeloid syndromes IIS La Fe - Instituto de Investigación Sanitaria La Fe Grupo de investigación en hematología y hemoterapia

Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate. Institution: Information not provided - US

Genes for non-syndromic congenital heart disease Institution: Information not provided - US

Genetic modifiers of congenital heart disease Institution: Information not provided - US

Mouse functional analysis of genes for congenital heart disease Institution: Information not provided - US

Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome Institution: Information not provided - US

Neurophysiological biomarkers of cognition in dup15 syndrome: from mouse models to patients Institution: Information not provided - US

Project 1: genetic mechanisms for conotruncal heart malformations Institution: Information not provided - US

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO Servizio Clinico di Consulenza Genetica

Neuronal dysfunctions underlying Phelan-McDermid syndrome and theirs rescue by genetic and pharmacological modulation of mGlu5 signaling Consiglio Nazionale delle Ricerche Istituto di Neuroscienze

Providing evidence for the integrated physical, psychological, and social support of adolescents and young adults (AYA) with intractable diseases by focusing on 22q11.2 deletion syndrome as the model The University of Tokyo Hospital Department of Neuropsychiatry

iPS cells to model vascular disease in patients with Williams Beuren syndrome Hospital for Sick Children, Research Institute

Mathematical models of disease mechanisms to reformulate drugs for rare diseases Fundación Progreso y Salud Área de bioinformática clínica

Genomic evaluation in Wolf-Hirschhorn syndrome; Customized SNPS microarrays and candidate genes: approach to dental disorders and complex epilepsy INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ) Sección de Genómica Estructural y Funcional

Charcot-marie-tooth (cmt) disease Institution: Information not provided - US

Identification of activators of pmp22 expression for treatment of cmt1a Institution: Information not provided - US

Cell biology of metabolic disorders Institution: Information not provided - US

Folding; misfolding; and function of pmp22 Institution: Information not provided - US

Investigation of x chromosome haploinsufficiency on germ cell development using t Institution: Information not provided - US

Gender-specific effects in physiology; pathophyiology and longevity Institution: Information not provided - US

Project 1: gene networks for social cognition in williams syndrome Institution: Information not provided - US

Project 2: modeling williams syndrome using human neurons Institution: Information not provided - US

Project 3: cellular architectonics and local circuits Institution: Information not provided - US

Project 4: neuroimaging of social circuitry Institution: Information not provided - US

Project 5: characterization of social phenotype Institution: Information not provided - US

Survey of the interest of ovarian cortex cryoconservation of girls affected by Turner syndrome: search for clinical and hormonal critera to select patients and caryotypic correlations Hôpital Bicêtre, GHU APHP. Université Paris Saclay Service d'Endocrinologie et Diabète de l'Enfant

Search for phenotype modifier genes in Charcot-Marie-Tooth 1A Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière Equipe "Excitabilité, synapse & pathologies associées"

CMTHER: CMT1A phenotype correction by modulating molecules for PMP22 gene expression : role of ascorbic acid and other molecules Université de médecine Aix-Marseille Université Thérapie des Maladies Génétiques (EA 1263)

Genetic epidemiology analysis in hereditary neuropathies Institute of Genomic Medicine and Rare Disorders, Semmelweis University Genetics Laboratory

An in vitro model of myelin protein zero mutations in schwann cells: from pathogenesis to therapy IRCCS Ospedale Policlinico San Martino - IST - DINOGMI Dipartimento di Neuroscienze, Oftalmologia, Riabilitazione, Genetica e Scienze Materno Infantili

Identifying responsible genes for chromosomal deletion syndromes using genome-editing-technology-based screening system on patient-specific-iPSC-based disease models RIKEN BioResource Research Center iPS Cell Advanced Characterization and Development Team

Drug Screening and development of rapid diagnostic technique for the DNA methylation abnormality due to the mutation in histone modification enzymes Atomic Bomb Disease Institute, Nagasaki University Department of Human Genetics

School Staff's Experiences and coping Related to the Challenging Behaviour of Children with Smith-Magenis Syndrome in Schools: A Q Methodological Study Frambu kompetansesenter for sjeldne diagnoser

Linguistic skills in children and adolescents with 5p-syndrome Frambu kompetansesenter for sjeldne diagnoser

Comprehensive study for clinical support and making guideline of Rett syndrome and MECP2 duplication syndrome National Center of Neurology and Psychiatry Department of Mental Retardation and Birth Defect Research

Projetos de investigação multicêntricos

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

Maternal Infant Child and Youth Research Network (MICYRN) University of British Columbia Maternal Infant Child and Youth Research Network

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy Muséum National d'Histoire Naturelle Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health Institut de Recherche en Santé - Université de Nantes L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

DoseX : Regulation and function of gene dosage compensation on the X chromosome Institut Pasteur Génomique et Epigénomique du Développement des Animaux - CNRS UMR3738

EUCID.net: European Congenital Imprinting Disorders Network Universitätsklinikum Aachen Institut für Humangenetik

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

22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis TIGEM - Telethon Institute of Genetics and Medicine Laboratorio di Ricerca

DISEASEAVATARS: Modeling Disease through Cell Reprogramming: a Translational Approach to the Pathogenesis of Syndromes Caused by Symmetrical Gene Dosage Imbalances IRCCS Istituto Europeo di Oncologia Stem cell epigenetics Unit

Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation
Institut für Humangenetik am Universitätsklinikum Jena

Institut für Humangenetik

Detection of chromosomal abnormalities and mutations by high throughput sequencing
CHU de Dijon - Plateau technique de Biologie

Laboratoire de génétique chromosomique et moléculaire

Improving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

Chromosomal anomaly
Karolinska Universitetssjukhuset - Solna

Department of Clinical Genetics (Klinisk genetik)

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

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz

Área de Genética y Genómica

A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle

Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes

L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development

Research Institute

DoseX : Regulation and function of gene dosage compensation on the X chromosome - FR
Institut Pasteur

Génomique et Epigénomique du Développement des Animaux - CNRS UMR3738

Functional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto

Department of Molecular Genetics

Memory measures for clinical trials in down syndrome and fragile x syndrome
Institution: Information not provided - US

Noninvasive prenatal aneuploidy testing by targeted massively parallel sequencing of maternal plasma
CHU de Dijon - Plateau technique de Biologie

Laboratoire de génétique chromosomique et moléculaire

Targeting aberrant Cl- homeostasis and GABAergic transmission in Down syndrome to design innovative therapeutic approaches
Istituto Italiano di Tecnologia

Dipartimento di Neuroscience e Tecnologie del Cervello

Genetic and metabolic regulation of the cell redox state in down syndrome:role of the ubiquitin-proteasome system, of mitochondrial metabolism, of mi RNAs, and protective effect of natural anti-oxidant compounds
Consiglio Nazionale delle Ricerche

Istituto di Biomembrane e Bioenergetica

Down syndrome: clinical, epidemiological and molecular characterisation
Uppsala Universitet

Department of immunology, Genetics and Pathology, IGP

The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2
Montreal Children's Hospital Research Institute - McGill University

Department of Pediatrics / Département de pédiatrie

Identification of the signaling pathways that allow the correction of congenital heart disease "in utero" in a natural way. Bases for prenatal therapy
Hospital Universitario Son Espases

Unidad de Diagnostico Molecular y Genética Clinica

Comprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe

Grupo de investigación en hematología y hemoterapia

Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
Institution: Information not provided - US

Genes for non-syndromic congenital heart disease
Institution: Information not provided - US

Genetic modifiers of congenital heart disease
Institution: Information not provided - US

Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US

Neurophysiological biomarkers of cognition in dup15 syndrome: from mouse models to patients
Institution: Information not provided - US

Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO

Servizio Clinico di Consulenza Genetica

Neuronal dysfunctions underlying Phelan-McDermid syndrome and theirs rescue by genetic and pharmacological modulation of mGlu5 signaling
Consiglio Nazionale delle Ricerche

Istituto di Neuroscienze

Providing evidence for the integrated physical, psychological, and social support of adolescents and young adults (AYA) with intractable diseases by focusing on 22q11.2 deletion syndrome as the model
The University of Tokyo Hospital

Department of Neuropsychiatry

iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud

Área de bioinformática clínica

Genomic evaluation in Wolf-Hirschhorn syndrome; Customized SNPS microarrays and candidate genes: approach to dental disorders and complex epilepsy
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)

Sección de Genómica Estructural y Funcional

Charcot-marie-tooth (cmt) disease
Institution: Information not provided - US

Identification of activators of pmp22 expression for treatment of cmt1a
Institution: Information not provided - US

Cell biology of metabolic disorders
Institution: Information not provided - US

Folding; misfolding; and function of pmp22
Institution: Information not provided - US

Investigation of x chromosome haploinsufficiency on germ cell development using t
Institution: Information not provided - US

Gender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US

Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

Project 3: cellular architectonics and local circuits
Institution: Information not provided - US

Project 4: neuroimaging of social circuitry
Institution: Information not provided - US

Project 5: characterization of social phenotype
Institution: Information not provided - US

Survey of the interest of ovarian cortex cryoconservation of girls affected by Turner syndrome: search for clinical and hormonal critera to select patients and caryotypic correlations
Hôpital Bicêtre, GHU APHP. Université Paris Saclay

Service d'Endocrinologie et Diabète de l'Enfant

Search for phenotype modifier genes in Charcot-Marie-Tooth 1A
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière

Equipe "Excitabilité, synapse & pathologies associées"

CMTHER: CMT1A phenotype correction by modulating molecules for PMP22 gene expression : role of ascorbic acid and other molecules
Université de médecine Aix-Marseille Université

Thérapie des Maladies Génétiques (EA 1263)

Genetic epidemiology analysis in hereditary neuropathies
Institute of Genomic Medicine and Rare Disorders, Semmelweis University

Genetics Laboratory

An in vitro model of myelin protein zero mutations in schwann cells: from pathogenesis to therapy
IRCCS Ospedale Policlinico San Martino - IST - DINOGMI

Dipartimento di Neuroscienze, Oftalmologia, Riabilitazione, Genetica e Scienze Materno Infantili

Identifying responsible genes for chromosomal deletion syndromes using genome-editing-technology-based screening system on patient-specific-iPSC-based disease models
RIKEN BioResource Research Center

iPS Cell Advanced Characterization and Development Team

Drug Screening and development of rapid diagnostic technique for the DNA methylation abnormality due to the mutation in histone modification enzymes
Atomic Bomb Disease Institute, Nagasaki University

Department of Human Genetics

School Staff's Experiences and coping Related to the Challenging Behaviour of Children with Smith-Magenis Syndrome in Schools: A Q Methodological Study
Frambu kompetansesenter for sjeldne diagnoser

Linguistic skills in children and adolescents with 5p-syndrome
Frambu kompetansesenter for sjeldne diagnoser

Comprehensive study for clinical support and making guideline of Rett syndrome and MECP2 duplication syndrome
National Center of Neurology and Psychiatry

Department of Mental Retardation and Birth Defect Research

International Clearinghouse for Birth Defects Monitoring Systems

Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Maternal Infant Child and Youth Research Network (MICYRN)

University of British Columbia

Maternal Infant Child and Youth Research Network

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy

Muséum National d'Histoire Naturelle

Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health

Institut de Recherche en Santé - Université de Nantes

L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

DoseX : Regulation and function of gene dosage compensation on the X chromosome

Institut Pasteur

Génomique et Epigénomique du Développement des Animaux - CNRS UMR3738

EUCID.net: European Congenital Imprinting Disorders Network

Universitätsklinikum Aachen

Institut für Humangenetik

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

22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis

TIGEM - Telethon Institute of Genetics and Medicine

Laboratorio di Ricerca

DISEASEAVATARS: Modeling Disease through Cell Reprogramming: a Translational Approach to the Pathogenesis of Syndromes Caused by Symmetrical Gene Dosage Imbalances

IRCCS Istituto Europeo di Oncologia

Stem cell epigenetics Unit