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Research projects
FRANCE
BOURGOGNE-FRANCHE-COMTE
DIJON
Detection of chromosomal abnormalities and mutations by high throughput sequencing
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire
GERMANY
Thüringen
JENA
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
ITALY
LAZIO
ROMA
Improving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SWEDEN
Region Stockholm
STOCKHOLM
Chromosomal anomaly
Karolinska Universitetssjukhuset - Solna
Department of Clinical Genetics (Klinisk genetik)
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
CANADA
Québec
MONTRÉAL
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
FRANCE
ILE-DE-FRANCE
PARIS
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
FRANCE
PAYS DE LA LOIRE
NANTES
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
GERMANY
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
ITALY
LAZIO
ROMA
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
ITALY
LOMBARDIA
MILANO
Neuronal dysfunctions underlying Phelan-McDermid syndrome and theirs rescue by genetic and pharmacological modulation of mGlu5 signaling
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze
ITALY
LOMBARDIA
MILANO
Identification of neuronal alterations underlying SHANK3 mutations and their rescue by genetic pharmacological therapies in animal models and patients derived IPS cells
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)
JAPAN
JAPAN
AICHI
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
JAPAN
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
JAPAN
JAPAN
TOKYO
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
SPAIN
Baleares
PALMA DE MALLORCA
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
SPAIN
Madrid
MADRID
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
UNITED KINGDOM
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Genes for non-syndromic congenital heart disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of congenital heart disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US
CANADA
Ontario
TORONTO
iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute
HUNGARY
Közép-Magyarország
BUDAPEST
Genetic epidemiology analysis in hereditary neuropathies
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory
JAPAN
JAPAN
IBARAKI
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
JAPAN
JAPAN
NAGASAKI
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
NORWAY
Østlandet
SIGGERUD
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
NORWAY
Østlandet
SIGGERUD
Språklige ferdigheter hos barn og unge med 5p-syndrom
Frambu kompetansesenter for sjeldne diagnoser
SPAIN
Andalucía
SEVILLA
Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica
SPAIN
Madrid
MADRID
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
UNITED KINGDOM
East Sussex
BRIGHTON
Characterising the functional consequences of genomic disorder associated gene copy number variation (CNV) on cell cycle checkpoint proficiency, DNA repair, genomic instability and signal transduction including its implications in 1q21.1 CNV, Wolf-Hirschhorn syndrome and 4p16.3 dup, 2p15p16 del, 11q23qter CNV, 3q29 del and 16p11.2 CNV
University of Sussex
DNA double strand break repair laboratory
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 3: cellular architectonics and local circuits
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 4: neuroimaging of social circuitry
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 5: characterization of social phenotype
Institution: Information not provided - US
Multicentric Research projects
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Département Médecine translationnelle et neurogénétique
- IRCCS Istituto Europeo di Oncologia
- Stem cell epigenetics Unit
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ITALY
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Réseau d'étude des retards mentaux et déficits cognitifs monogéniques
ITALY
LOMBARDIA
MILANO