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Progetti di ricerca
FRANCIA
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
GERMANIA
Baden-Württemberg
FREIBURG
Optical genome mapping in addition to cytogenetic characterization based on apparently balanced chromosome translocations
Institut für Humangenetik am Universitätsklinikum Freiburg
Institut für Humangenetik
GERMANIA
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
ITALIA
LAZIO
ROMA
Migliorare gli standard di qualità dei laboratori italiani che svolgono test genetici per le malattie rare
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SVEZIA
Region Stockholm
SOLNA
Chromosomal anomaly
Karolinska Universitetssjukhuset
Department of Clinical Genetics
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
GERMANIA
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
REGNO UNITO; GRAN BRETAGNA
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
SPAGNA
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
SPAGNA
Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
Fundación Progreso y Salud
Área de bioinformática clínica
SPAGNA
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
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAGNA
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
SPAGNA
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de Neurogenética y Medicina Molecular
SPAGNA
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
SPAGNA
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
SPAGNA
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 Enfermedades raras, mitocondriales y neuromusculares
CANADA
Ontario
TORONTO
Functional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto
Department of Molecular Genetics
FRANCIA
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
FRANCIA
BRETAGNE
ROSCOFF
TRANSBIOROYAL: Translating biomarkers to reduce DYRK1A hyperactivity in Down syndrome across the lifespan, from animal models to humans
PEHRA PHARMACEUTICALS
FRANCIA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
TRANSBIOROYAL: Translating biomarkers to reduce DYRK1A hyperactivity in Down syndrome across the lifespan, from animal models to humans
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANCIA
GRAND-EST
STRASBOURG
TRANSBIOROYAL: Translating biomarkers to reduce DYRK1A hyperactivity in Down syndrome across the lifespan, from animal models to humans
Faculté de médecine de Strasbourg - Louis Pasteur
iCube CSTB
FRANCIA
HAUTS-DE-FRANCE
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
FRANCIA
ILE-DE-FRANCE
IVRY-SUR-SEINE
Study of Neutrophils During Gingival Inflammation in Children With Down Syndrome/Trisomy 21
AP-HP - Hôpital Universitaire Charles-Foix
FRANCIA
ILE-DE-FRANCE
PARIS
Elucidating Age-related Comorbidity Patterns in Down Syndrome (DS): Prospective Cohort (GO-DS21 Cohort Study) - FR
Institut Jérôme Lejeune
ITALIA
LIGURIA
GENOVA
Correzione della aberrante omeostasi dello ione Cloro e della trasmissione GABAergica nella Sindrome di Down per ottenere nuovi approcci terapeutici
Istituto Italiano di Tecnologia
Dipartimento di Neuroscience e Tecnologie del Cervello
ITALIA
PUGLIA
BARI
Regolazione genica e metabolica dell'equilibrio redox nella sindrome di Down: ruolo del sistema ubiquitina-proteasoma, del metabolismo energetico mitocondriale, dei miRNAs ed effetto protettivo di composti naturali ad azione antiossidante
Consiglio Nazionale delle Ricerche
Istituto di Biomembrane e Bioenergetica
REGNO UNITO; GRAN BRETAGNA
Greater Manchester
ADDRESS: NOT PROVIDED - UK
Elucidating Age-related Comorbidity Patterns in Down Syndrome (DS): Prospective Cohort (GO-DS21 Cohort Study) - GB
Institution: Information not provided - UK
SPAGNA
Cataluña
BARCELONA
Elucidating Age-related Comorbidity Patterns in Down Syndrome (DS): Prospective Cohort (GO-DS21 Cohort Study) -ES
Institut Hospital del Mar d'Investigacions Mèdiques
Grupo de Farmacología integrada y neurociencia de sistemas
SPAGNA
Comunidad Valenciana
VALENCIA
Transcriptomic and secretomic profiles after extended culture of human euploid and chromosome 21 aneuploid embryos
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de Biología reproductiva y Bioingeniería en Reproducción humana
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Memory measures for clinical trials in down syndrome and fragile x syndrome
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Exploring the role of gonadotropins in Down syndrome
Institution: Information not provided - US
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - AT
Institution: Information not provided - AT
BELGIO
ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE
eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -BE
Institution: Information not provided - BE
CANADA
Québec
ADDRESS: NOT PROVIDED - CA
eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -CA
Institution: Information not provided - CA
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
DANIMARCA
Jylland
ADDRESS: NOT PROVIDED - DK
A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - DK
Institution: Information not provided - DK
FRANCIA
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - FR
Institution: Information not provided - FR
GERMANIA
Sachsen-Anhalt
HALLE (SAALE)
eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -DE
Martin-Luther-Universität Halle-Wittenberg
Profilzentrum Gesundheitswissenschaften
ITALIA
LAZIO
ROMA
Studio dell' associazione tra Sindrome di DiGeorge e sequenza displasia caudale in un neonato nato da madre diabetica
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
ITALIA
LOMBARDIA
BRESCIA
Uno studio non interventistico, prospettico, multicentrico, per investigare le caratteristiche patologiche di pazienti adulti affetti da malattie dell'ossidazione dgli acidi grassi a catena lunga (FAOD) - IT
ASST Spedali Civili di Brescia
U.O di Neurologia
ITALIA
LOMBARDIA
MILANO
Modulazione genetica e farmacologica del recettore mGlu5 per migliorare i difetti neurologici nella sindrome di Phelan-McDermid
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze
POLONIA
Kraków
ADDRESS: NOT PROVIDED - PL
A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - PL
Institution: Information not provided - PL
REGNO UNITO; GRAN BRETAGNA
Greater London
ADDRESS: NOT PROVIDED - GB
A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - GB
Institution: Information not provided - GB
REPUBBLICA CECA
Capital City Prague
ADDRESS: NOT PROVIDED - CZ
A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - CZ
Institution: Information not provided - CZ
SPAGNA
Cataluña
BARCELONA
Detection of structural genetic factors modifying the phenotype in a population with congenital defects
Vall d'Hebron Institut de Recerca VHIR
Grupo de Medicina Genética
SPAGNA
Madrid
ADDRESS: NOT PROVIDED - ES
A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - ES
Institution: Information not provided - ES
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Genes for non-syndromic congenital heart disease
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of congenital heart disease
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Neurophysiological biomarkers of cognition in dup15 syndrome: from mouse models to patients
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Integrated Microphysiological System of Cerebral Organoid and Blood Vessel for Disease Modeling and Neuropsychiatric Drug screening
Institution: Information not provided - US
SVIZZERA
Suisse Romande
ADDRESS: NOT PROVIDED - CH
eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -CH
Institution: Information not provided - CH
UNGHERIA
Dél-Dunántúl
ADDRESS: NOT PROVIDED - HU
A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD) - HU
Institution: Information not provided - HU
BELGIO
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
FRANCIA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
CHROMATISM: Chromatin remodeler CHD1L in neurogenesis and in 1q21.1 Copy Number Variant-associated neurodevelopmental phenotypes
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANCIA
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'
FRANCIA
PAYS DE LA LOIRE
NANTES
Translational investigation of Neurodevelopmental Disorders caused by impairment of the Ubiquitin-Proteasome System
Université de Nantes
L'unité de recherche de l'institut du thorax
FRANCIA
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)
GERMANIA
Nordrhein-Westfalen
KÖLN
Investigating the genotype-phenotype spectrum of PUF60-associated disorders
Universitätsklinikum Köln
Pädiatrische Neurologie und SPZ
ITALIA
LIGURIA
GENOVA
Studio in vitro di mutazioni nelle cellule di Schwann: dalla patogenesi alla terapia
IRCCS Ospedale Policlinico San Martino - IST - DINOGMI
Dipartimento di Neuroscienze, Oftalmologia, Riabilitazione, Genetica e Scienze Materno Infantili
ITALIA
LOMBARDIA
MILANO
Dallo studio dei meccanismi molecolari patogenetici alla base delle sindromi dovute a microduplicazioni e microdelezioni del cromosoma 7q11.23 alla scoperta di trattamenti terapeutici
IRCCS Istituto Europeo di Oncologia
Stem cell epigenetics Unit
ITALIA
LOMBARDIA
ROZZANO
Dallo studio dei meccanismi molecolari patogenetici alla base delle sindromi dovute a microduplicazioni e microdelezioni del cromosoma 7q11.23 alla scoperta di trattamenti terapeutici
IRCCS Istituto Clinico Humanitas
Istituto Clinico Humanitas
NORVEGIA
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
NORVEGIA
Østlandet
SIGGERUD
Linguistic skills in children and adolescents with 5p-syndrome
Frambu kompetansesenter for sjeldne diagnoser
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Charcot-marie-tooth (cmt) disease
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Identification of activators of pmp22 expression for treatment of cmt1a
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Folding; misfolding; and function of pmp22
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Project 3: cellular architectonics and local circuits
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Project 4: neuroimaging of social circuitry
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Project 5: characterization of social phenotype
Institution: Information not provided - US
UNGHERIA
Közép-Magyarország
BUDAPEST
Genetic epidemiology analysis in hereditary neuropathies
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory
Progetti di ricerca multicentrici
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Institution: Information not provided - UK
- Institution: Information not provided - CA
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Oregon Health & Science University
- Molecular and Medical Genetics
- IRCCS Istituto Europeo di Oncologia
- Stem cell epigenetics Unit
GERMANIA
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
REGNO UNITO; GRAN BRETAGNA
Greater Manchester
ADDRESS: NOT PROVIDED - UK
Elucidating Age-related Comorbidity Patterns in Down Syndrome (DS): Prospective Cohort (GO-DS21 Cohort Study)
CANADA
Québec
ADDRESS: NOT PROVIDED - CA
eCare-22q11.2 - Analysis of psychosocial well-being, quality of life, socioeconomic burden, and efficacy/cost-effectiveness of online coaching interventions for families with children with 22q11.2 deletion syndrome
ITALIA
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
STATI UNITI
Oregon
PORTLAND
A Prospective, Multicenter, Non-interventional Study to Investigate the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders (FAOD)
ITALIA
LOMBARDIA
MILANO