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Research projects
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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
CANADA
Québec
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
SWEDEN
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
FINLAND
Finland
HELSINKI
Neurobiology of autism spectrum disorders modeled on patient-specific stem cells.
University of Helsinki
Department of Physiology
GERMANY
Niedersachsen
GÖTTINGEN
ASD-NET: Autism Spectrum Disorders Network
Universitätsmedizin Göttingen
ZSEG - Zentrum für seltene Erkrankungen Göttingen
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
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAIN
Madrid
MADRID
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
SPAIN
Madrid
MADRID
Evaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia
UNITED KINGDOM
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
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
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
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 STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
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
Clinical Genetics (Klinisk genetik)
Multicentric Research projects
- Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Département Médecine translationnelle et neurogénétique
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Centro de Regulación Genómica
- Programa Genes y Enfermedad
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- 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
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Réseau d'étude des retards mentaux et déficits cognitifs monogéniques
ITALY
SICILIA
MESSINA
CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
NETHERLANDS
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)
SPAIN
Cataluña
BARCELONA
RGPG: Genotyping and Psychiatric Genetics Network (FINISHED)
GERMANY
Niedersachsen
GÖTTINGEN
EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases
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
ITALY
LAZIO
ROMA