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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
ChromoSomics - Database: 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
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
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
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
SPAIN
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
CANADA
Ontario
TORONTO
Functional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto
Department of Molecular Genetics
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Participatory process to understand and improve augmentative and alternative communication of people with a rare neurogenetic disorders
Institution: Information not provided - FR
FRANCE
BOURGOGNE-FRANCHE-COMTE
DIJON
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
ITALY
LIGURIA
GENOVA
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
ITALY
PUGLIA
BARI
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
SPAIN
Comunidad Valenciana
VALENCIA
Transcriptomic and secretomic profiles after extended culture of human euploid and chromosome 21 aneuploid embryos
Hospital Universitario y Politécnico La Fe
Fundación para la Investigación del Hospital Universitari La Fe
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Memory measures for clinical trials in down syndrome and fragile x syndrome
Institution: Information not provided - US
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
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
SPAIN
Cataluña
BARCELONA
Detection of structural genetic factors modifying the phenotype in a population with congenital defects
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca
SWITZERLAND
Suisse Romande
GENÈVE
The Swiss 22q11DS longitudinal cohort: understanding psychosis proneness through negative symptoms
UNIGE Université de Genève
Service Médico-Pédagogique Département de Psychiatrie
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
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
Neurophysiological biomarkers of cognition in dup15 syndrome: from mouse models to patients
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
BELGIUM
VLAAMS BRABANT
LEUVEN
Identification of therapies targeting lipid metabolism & myelination for Charcot-Marie-Tooth disease type 1A using patient derived Schwann cells
UZ Leuven - Campus Gasthuisberg
Ludo Van Den Bosch Lab- VIB-KU Leuven Center for Brain & Disease Research
CANADA
Ontario
TORONTO
iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute
FRANCE
ILE-DE-FRANCE
PARIS
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"
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
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)
HUNGARY
Közép-Magyarország
BUDAPEST
Genetic epidemiology analysis in hereditary neuropathies
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory
ITALY
LIGURIA
GENOVA
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
ITALY
LOMBARDIA
ROZZANO
Functional dissection of the molecular underpinnings of 7q11.23 syndromes: bridging pathogenic insight to drug discovery at single cell resolution
IRCCS Istituto Clinico Humanitas
Istituto Clinico Humanitas
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
SWITZERLAND
Suisse Romande
FRIBOURG
The Differential Roles of Positive Emotions and Emotion Regulation for Socio-Emotional Processes in Developmental Disabilities: Insights for Future Interventions
Universität Freiburg
Heilpädagogisches Institut
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Charcot-marie-tooth (cmt) disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Identification of activators of pmp22 expression for treatment of cmt1a
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Folding; misfolding; and function of pmp22
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
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Universitätsklinikum Aachen
- Institut für Humangenetik
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- IRCCS Istituto Europeo di Oncologia
- Stem cell epigenetics Unit
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
GERMANY
Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network
ITALY
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
ITALY
LOMBARDIA
MILANO