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Forschungsprojekt(e)
KANADA
Québec
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
DEUTSCHLAND
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Europaweites Netzwerk zum Outcome von angeborenen Fehlbildungen (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
VEREINIGTES KONIGREICH
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
BELGIEN
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
BELGIEN
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
Cliniques universitaires Saint-Luc - UCLouvain
Laboratory of Nephrology
BELGIEN
HAINAUT
GOSSELIES
RIBOEUROPE: The European Ribosomopathy Consortium - BE
Biopark campus
The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)
DEUTSCHLAND
Baden-Württemberg
FREIBURG
Eine prospektive, internationale, multizentrische Verlaufbeobachtungsstudie bei Patienten mit kombiniertem T-Zell Immundefekt (profound combined immunodeficiency : P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
DEUTSCHLAND
Baden-Württemberg
FREIBURG
RIBOEUROPE: Das Europäische Ribosomopathie-Konsortium
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie
DEUTSCHLAND
Baden-Württemberg
HEIDELBERG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
DEUTSCHLAND
Baden-Württemberg
HEIDELBERG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe
DEUTSCHLAND
Baden-Württemberg
TÜBINGEN
ESPED-Studie: Omphalozelen und assoziierte Fehlbildungen bei Neu- und Frühgeborenen
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie
DEUTSCHLAND
Bayern
NEUHERBERG
Aufklärung der molekularen und zellulären Signalwege im PURA-Syndrom
Helmholtz Zentrum München
Institut für Strukturbiologie - AG Niessing
DEUTSCHLAND
Bayern
WÜRZBURG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universität Würzburg - Biozentrum
Institut für Humangenetik
DEUTSCHLAND
Bayern
WÜRZBURG
Klinische Beobachtungsstudie: Kognitive Fähigkeiten, Entwicklung und Hörvermögen bei Patienten mit Münke-Syndrom
Universitätsklinikum Würzburg
Sektion für Pädiatrische Neurochirurgie
DEUTSCHLAND
Berlin
BERLIN
Aufklärung molekularer Mechanismen, die am jObes1 Lokus den juvenilen Fettansatz in der Berliner Fettmaus verursachen
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik
DEUTSCHLAND
Hamburg
HAMBURG
Genetische und funktionelle Untersuchungen zum Microphthalmia with linear skin defects (MLS) - Syndrom
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
DEUTSCHLAND
Hamburg
HAMBURG
Identifizierung neuer monogener Krankheitsgene mittels Next Generation Sequencing-Technologie
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
DEUTSCHLAND
Hessen
LANGEN
Präklinische Gentherapie von Fanconi-Anämie mit transposon-basierten Ansätzen
Paul-Ehrlich-Institut
Abteilung Medizinische Biotechnologie
DEUTSCHLAND
Mecklenburg-Vorpommern
ROSTOCK
Biomarker der Hurler-Krankheit (BioHurler): Ein internationales, multizentrisches, epidemiologisches Protokoll
CENTOGENE GmbH
DEUTSCHLAND
Niedersachsen
GÖTTINGEN
Untersuchungen zur Pathogenese des Kabuki Syndroms, insbesondere im Hinblick auf eine mögliche gemeinsame Pathogenese zum CHARGE Syndrom
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
DEUTSCHLAND
Niedersachsen
GÖTTINGEN
Ein Long-Read-Genomsequenzierungsansatz zur Identifizierung bislang unbekannter Gene für Erkrankungen mit beschleunigter Alterung
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
DEUTSCHLAND
Niedersachsen
HANNOVER
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie
DEUTSCHLAND
Niedersachsen
HANNOVER
PREDACTING: Prädiktive Bewertung der klinischen Verlaufsformen von nicht-muskulären Aktinopathien
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie
DEUTSCHLAND
Nordrhein-Westfalen
AACHEN
TREAT-SGS: Entwicklung einer neuartigen Therapie von Schinzel-Giedion-Syndrom und vorklinische Erprobung in humanen Zellmodellen und transgenen Mäusen
Rheinisch-Westfälische Technische Hochschule Aachen
Joint Research Center for Computational Biomedicine
DEUTSCHLAND
Nordrhein-Westfalen
AACHEN
Identifizierung molekularer Ursachen des menschlichen Kleinwuchses bei Patienten mit Merkmalen des Silver-Russell-Syndroms
Universitätsklinikum Aachen
Institut für Humangenetik
DEUTSCHLAND
Nordrhein-Westfalen
BONN
Systematische Identifizierung und Charakterisierung von Krankheitsgenen für die VATER/VACTERL-Assoziation
Universitätsklinikum Bonn (AöR)
Institut für Humangenetik
DEUTSCHLAND
Nordrhein-Westfalen
DÜSSELDORF
2020-2019-HUM-ADULT: Beschreibung des klinischen Bildes von erwachsenen Menschen mit seltenen genetischen Syndromen
Heinrich-Heine-Universität Düsseldorf
Institut für Humangenetik
DEUTSCHLAND
Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universitätsklinikum Düsseldorf
Institut für Pathologie
DEUTSCHLAND
Nordrhein-Westfalen
KÖLN
TC NER : Transkriptions-Stress kann durch Ernährungsumstellungen beeinflusst werden und ist von essentieller Bedeutung bei seltenen Krankheiten, mit defekten DNA-Reparaturmechanismen - partner DE
CECAD Research Center
Exzellenzcluster CECAD in der Universität zu Köln
DEUTSCHLAND
Rheinland-Pfalz
MAINZ
TIC-PEA: Telemedizinische interdisziplinäre Versorgung von Patienten mit Ösophagusatresie
Universitätsmedizin Mainz
Klinik und Poliklinik für Kinderchirurgie
DEUTSCHLAND
Saarland
HOMBURG
PHYSPATH-KS: Verständnis der Pathophysiologie des Keutel-Syndroms: Ein Weg zur Heilung
Universitätsklinikum des Saarlandes
Institut für Experimentelle Orthopädie und Arthroseforschung
DEUTSCHLAND
Sachsen
DRESDEN
PREDACTING: Prädiktive Bewertung der klinischen Verlaufsformen von nicht-muskulären Aktinopathien
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
DEUTSCHLAND
Sachsen-Anhalt
HALLE (SAALE)
eCare-22q11.2 - Analyse des psychosozialen Wohlbefindens, der Lebensqualität, der sozioökonomischen Belastung und der Wirksamkeit/Kosten-Effektivität von Online-Coaching-Interventionen für Familien mit Kindern mit 22q11.2-Deletionssyndrom - DE
Martin-Luther-Universität Halle-Wittenberg
Profilzentrum Gesundheitswissenschaften
FINNLAND
Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki
FRANKREICH
AUVERGNE-RHONE-ALPES
BRON
Role of minor splicing in brain development
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Equipe GENDEV - Génétique des anomalies du neurodéveloppement
FRANKREICH
AUVERGNE-RHONE-ALPES
BRON
Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme
FRANKREICH
AUVERGNE-RHONE-ALPES
PRAGUE
Mechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANKREICH
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
FRANKREICH
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - FR (Parner 1)
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches
FRANKREICH
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches
FRANKREICH
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Study of the regulation of diacylglycerol kinase activity by FMRP and its deregulation in Fragile X syndrome disease
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANKREICH
GRAND-EST
STRASBOURG
TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - FR
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
FRANKREICH
GRAND-EST
STRASBOURG
Bardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112
FRANKREICH
GRAND-EST
STRASBOURG
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - FR (Partner 2)
Faculté de médecine de Strasbourg - Louis Pasteur
iCube CSTB
FRANKREICH
GRAND-EST
VANDOEUVRE LES NANCY CEDEX
PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure - FR
Institut des sciences de l'ingénierie et des systèmes
UMR7365 Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA)
FRANKREICH
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Dissecting the mechanisms by which distinct muscle cell types arise in posterior cardiopharyngeal mesoderm.
Institution: Information not provided - FR
FRANKREICH
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Food practices socialization of children with Prader-Willi syndrom
Institution: Information not provided - FR
FRANKREICH
ILE-DE-FRANCE
PARIS
EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
Service de génétique
FRANKREICH
ILE-DE-FRANCE
PARIS
Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII)
CHU Paris - Hôpital Robert Debré
UF de Génétique clinique
FRANKREICH
ILE-DE-FRANCE
PARIS
METAFRAX: Investigation of synaptic plasticity in Fragile X syndrome
CNRS - Centre national de la recherche scientifique
Centre National de la Recherche Scientifique
FRANKREICH
ILE-DE-FRANCE
PARIS
RIBOEUROPE: The European Ribosomopathy Consortium - FR
Faculté de Médecine Paris Diderot Paris 7 - site Bichat
Centre de Recherche sur l'Inflammation (UMR 1149 Inserm - Université Paris Diderot - ERL CNRS 8252)
FRANKREICH
ILE-DE-FRANCE
PARIS
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - FR
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Laboratoire d'hématologie
FRANKREICH
ILE-DE-FRANCE
PARIS
Dysfunctional hematopoietic stem cells and clonal hematopoiesis in Fanconi Anemia: what underlies an attenuated phenotype?
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Laboratoire d'hématologie
FRANKREICH
ILE-DE-FRANCE
PARIS
Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Service d'hématologie pédiatrique
FRANKREICH
ILE-DE-FRANCE
PARIS
dissection of molecular bases of myhre syndrome : identification of new genes in pre-screened patients
IMAGINE - Institut des Maladies Génétiques
Equipe "Bases moléculaires et physiopathologiques des chondrodysplasies"
FRANKREICH
ILE-DE-FRANCE
PARIS
Defects in mitochondria and proteases in the cells of Cockayne's progeroid syndrome and during processes associated with aging.
Institut Pasteur
Cellules souches et Développement - CNRS UMR3738
FRANKREICH
ILE-DE-FRANCE
PARIS
Regulatory networks governing the diversity of craniofacial muscles
Institut Pasteur
FRANKREICH
ILE-DE-FRANCE
PARIS
Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"
FRANKREICH
ILE-DE-FRANCE
PARIS
Modeling Rubinstein Taybi Syndrome Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies.
Université Paris Diderot
Unité Epigénétique et Destin Cellulaire CNRS UMR7216
FRANKREICH
ILE-DE-FRANCE
PARIS
Modeling Rubinstein-Taybi Syndrome: Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies
Université Paris Diderot
Unité Epigénétique et Destin Cellulaire CNRS UMR7216
FRANKREICH
ILE-DE-FRANCE
VILLEJUIF
At the origins of anemia and thrombocytopenia in Fanconi anemia.
CLCC Institut Gustave Roussy
4Rs : Replication, Repair, Recombination and ROS
FRANKREICH
NOUVELLE AQUITAINE
BORDEAUX
Research for one gene involved in Goldenhar syndrome
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
FRANKREICH
NOUVELLE AQUITAINE
BORDEAUX
Further delineation of molecular bases of Oculo-Auriculo-Vertebral Spectrum
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
FRANKREICH
NOUVELLE AQUITAINE
BORDEAUX
Whole-genome sequencing in the complex Oculo-Auriculo-vertebral spectrum: application on whole-exome seqeuncing negative familial cases versus direct analysis
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
FRANKREICH
OCCITANIE
MONTPELLIER
Exploiting epigenome editing in Kabuki syndrome: a new route towards gene therapy for rare genetic disorders
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Equipe Maladies Génétiques de l'Enfant et de l'Adulte
FRANKREICH
OCCITANIE
MONTPELLIER
ZEPIKAB: Zebrafish: a model to test the therapeutic potential of epidrugs on complex Kabuki phenotypes - FR
CHU de Montpellier - Hôpital Saint-Eloi
INSERM U1183 "Cellules souches, plasticité cellulaire, médecine régénératrice et immunothérapies"
FRANKREICH
OCCITANIE
MONTPELLIER
IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy - FR
Institut de Génétique Humaine (IGH)
Chromatin and cell biology
FRANKREICH
PAYS DE LA LOIRE
NANTES
Genotype-phenotype correlation and penetrance study of the FXTAS: premutation carriers
CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
Centre d'investigation clinique neuro-psycho-pharmacologie
FRANKREICH
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
FRANKREICH
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
HETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations - FR
Institut de neurobiologie de la méditerranée (INMED)
Bases moléculaires et physiopathologie des malformations du cortex cérébral
FRANKREICH
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Proof-of-concept viral-mediated Necdin gene therapy to cure respiratory alterations in Prader-Willi Syndrome
Parc scientifique et technologiques de Luminy
INMED -Institut de Neurobiologie de la Méditerranée - UMR1249
FRANKREICH
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Necdin gene therapy to restore normal breathing in a mouse model of Prader-Willi syndrome
Parc scientifique et technologiques de Luminy
INMED -Institut de Neurobiologie de la Méditerranée - UMR1249
FRANKREICH
PROVENCE-ALPES-COTE D'AZUR
NICE
Study of SYK signaling in chronic inflammatory diseases
Centre Méditerranéen de Médecine Moléculaire
FRANKREICH
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
Pathophysiology of mental retardation: Fragile X syndrome and mental retardation associated with the FRAXE site on Xq28
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275
FRANKREICH
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
New therapeutic targets in Fragile X Syndrome
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275
FRANKREICH
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
Explore innovative strategies to restore synaptic function and sociocognitive behaviors in a mouse model expressing a recurrent mutation in Fragile X syndrome in humans
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Equipe "Implication physiologique et physiopathologique de la sumoylation neuronale"
IRLAND
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
ITALIEN
CAMPANIA
NAPOLI
Analysis of KDM5C mutations detected in patients with ASD and ID
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty
ITALIEN
FRIULI VENEZIA GIULIA
TRIESTE
miRNA in Prader-Willi syndrome
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato
ITALIEN
LAZIO
FIUMICINO
Prader-Willi syndrome: genetic, metabolic and endocrine functional neuroanatomy
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia
ITALIEN
LAZIO
ROMA
Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
ITALIEN
LAZIO
ROMA
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
ITALIEN
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
ITALIEN
LAZIO
ROMA
Deficiency for the ubiquitin ligase UBE3B in blepharophimosis-ptosis-intellectual-disability Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
ITALIEN
LAZIO
ROMA
Study of the pathogenesis of autoimmune phenomena in primary immunodeficiencies
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica
ITALIEN
LAZIO
ROMA
Clinical and molecular characterization of genetic syndromes with congenital heart disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica
ITALIEN
LAZIO
ROMA
Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
UOS Genetica Medica
ITALIEN
LAZIO
ROMA
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
A.R. Genetica e Malattie Rare
ITALIEN
LAZIO
ROMA
Pediatric ataxias and public health: epidemiological studies and disease registry, development of multi-level informatics platform for clinicians and family, and implementation of guidelines for diagnosis, management and care within the national health system
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Prevenzione delle Malattie e la Promozione della Salute
ITALIEN
LAZIO
ROMA
Characterization of adenosine receptors in a mouse model of fragile X syndrome (FXS)
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Ricerca e la Valutazione preclinica e clinica dei Farmaci
ITALIEN
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIEN
LAZIO
ROMA
Improving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIEN
LAZIO
ROMA
A Drosophila model for Nijmegen breakage Syndrome and related genetic disorders
Sapienza Università di Roma
Dipartimento di Genetica e Biologia Molecolare
ITALIEN
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
ITALIEN
LOMBARDIA
CUSANO MILANINO
Advanced biotechnologies for diagnosis of rare genetic diseases with multiple pathogenetic mechanisms
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare
ITALIEN
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
ITALIEN
LOMBARDIA
MILANO
TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - IT
IFOM - Istituto FIRC di Oncologia Molecolare
Firc Institute of Molecular Oncology (IFOM)
ITALIEN
LOMBARDIA
MILANO
Functional dissection of the molecular underpinnings of 7q11.23 syndromes: bridging pathogenic insight to drug discovery at single cell resolution
IRCCS Istituto Europeo di Oncologia
Stem cell epigenetics Unit
ITALIEN
LOMBARDIA
MILANO
Mechanistic dissection of Polycomb-dependent dysregulation in Weaver syndrome neural lineages
IRCCS Istituto Europeo di Oncologia
ITALIEN
LOMBARDIA
MILANO
Joubert syndrome and other genetic cerebellar malformations. In vivo analysis in animal models
IRCCS Ospedale San Raffaele
U.O. di Genetica dello Sviluppo Neurale
ITALIEN
LOMBARDIA
MILANO
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome - IT
IRCCS Ospedale San Raffaele
Divisione di Neuroscienze
ITALIEN
LOMBARDIA
MILANO
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome - IT
Università degli Studi di Milano Bicocca
Uiniversità degli Studi di Milano Bicocca
ITALIEN
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
ITALIEN
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
ITALIEN
TOSCANA
PISA
Intracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures
Consiglio Nazionale delle Ricerche - NEST
Istituto di Nanoscienze
ITALIEN
TOSCANA
SESTO FIORENTINO (FIRENZE)
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Università degli Studi di Firenze
Dipartimento di Biologia
ITALIEN
VENETO
PADOVA
Intracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures
CNR - Istituto di Neuroscienze
Istituto di Neuroscienze
JAPAN
JAPAN
KYOTO
Development of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
Institute for Frontier Life and Medical Sciences, Kyoto University
KANADA
Alberta
CALGARY
Investigating the Effects of Mutation in the Spliceosomal Gene SNRPB in Cerebro-Costo-Mandibular Syndrome
Alberta Children's Hospital
Calgary Molecular Diagnostic Laboratory
KANADA
Alberta
CALGARY
Investigating the Effects of Mutation in the Spliceosomal Gene SNRPB in Cerebro-Costo-Mandibular Syndrome
Alberta Children's Hospital
Department of Medical Genetics
KANADA
Alberta
EDMONTON
Autonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
KANADA
Alberta
EDMONTON
Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
KANADA
Colombie-Britannique
VANCOUVER
Investigating the structure and function of the human autophagy regulator EPG5
University of British Columbia
Department of Biochemistry & Molecular Biology
KANADA
Colombie-Britannique
VANCOUVER
Mutational analysis of EZH2 in patients with Weaver and Weaver-like syndromes
University of British Columbia
CFRI - Child and Family Research Institute
KANADA
Ontario
TORONTO
Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute
KANADA
Ontario
TORONTO
iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute
KANADA
Ontario
TORONTO
Deciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute
KANADA
Ontario
TORONTO
Functional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto
Department of Molecular Genetics
KANADA
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
KANADA
Québec
MONTRÉAL
Developing retinal gene augmentation therapy for Zellweger Spectrum Disorder
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Department of pathology
KANADA
Québec
MONTRÉAL
Molecular mechanisms of CdGAP, a negative regulator of the oncogenic small GTPases Rac1 and Cdc42
McGill University - Dentistry Building
Département d'Anatomie et Biologie Cellulaire / Department of Anatomy and Cell Biology
KANADA
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
KANADA
Québec
MONTRÉAL
Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome
The Douglas Research Centre
Human Neuroscience
NIEDERLANDE
Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
NIEDERLANDE
Noord-Holland
AMSTERDAM
Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
NIEDERLANDE
Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
NIEDERLANDE
Noord-Holland
AMSTERDAM
Causes of Nicolaides-Baraitser Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
NIEDERLANDE
Noord-Holland
AMSTERDAM
Keloid formation in Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
NIEDERLANDE
Noord-Holland
AMSTERDAM
Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
NIEDERLANDE
Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
NIEDERLANDE
Noord-Holland
AMSTERDAM
Causes of Nicolaides-Baraitser Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
NORWEGEN
Østlandet
OSLO
A feasibility study to inform an RCT to evaluate an online psychosocial intervention for young people with apperarance-altering conditions (YP Face it): a Norwegian pilot
Oslo University Hospital, Rikshospitalet
SSD - Senter for sjeldne diagnoser
NORWEGEN
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
OSTERREICH
NIEDERÖSTERREICH
KLOSTERNEUBURG
IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy - AT
IST Austria
Institute of Science and Technology Austria
OSTERREICH
WIEN
WIEN
Pharmakologischer Rescue von Kreatintransporter-1 Mutanten
Medizinische Universität Wien
Zentrum für Physiologie und Pharmakologie
PORTUGAL
SUL
LISBOA
The study of Antley-Bixler Syndrome related mutations of cytochrome P450 oxidoreductase: CYPOR polymorphism and the human cytochrome P450 enzyme complex.
Centro de Investigação em Genética Molecular Humana
SCHWEDEN
Region Stockholm
HUDDINGE
Oxysterols in health and disease
Karolinska Institutet
Department of laboratory medicine (LABMED)
SCHWEDEN
Region Stockholm
SOLNA
Molecular and functional studies of Scc2 and Scc4 in DNA repair, Gene regulation and Genome integrity in Cornelia de Lange syndrome
Karolinska Institutet
Department of Cell and Molecular Biology (CMB)
SCHWEDEN
Region Stockholm
SOLNA
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
SCHWEDEN
Region Västra Götaland
GÖTEBORG
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome - SE
Göteborgs Universitet
Department of Chemistry & Molecular Biology
SCHWEDEN
Region Örebro län
ÖREBRO
Study on cognitive hearing sciences (Linnéus HEAD) in Ushers, Alström syndrome, CHARGE and other syndromic deafness disorders
Örebro Universitetssjukhus
Örebro University Hospital
SCHWEIZ
Suisse Alémanique
SCHLIEREN
Understanding the molecular mechanisms underlying phenotypic variability in ciliopathies II
Universität Zürich
Institut für Medizinische Genetik
SCHWEIZ
Suisse Alémanique
ZURICH
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - CH
ETH Zurich - Hönggerberg campus
Institute of Molecular Health Sciences
SCHWEIZ
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
SCHWEIZ
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
SPANIEN
Cataluña
BARCELONA
Development of human 3D organoids to understand the differential impact of DYRK1A haploinsufficiency syndrome in the CNS
Fundació Clínic per a la Recerca Biomèdica
Grupo Terapia génica y cáncer
SPANIEN
Cataluña
BARCELONA
Cellular models for high content drug screening in Fanconi anemia therapeutics
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Grupo de investigación en Síndromes de reparación del DNA y predisposición al cáncer
SPANIEN
Cataluña
BARCELONA
Linking cellular defects with clinical manifestations in Cohen syndrome
IRB Barcelona - Instituto de Investigación Biomédica
Grupo de Organización de Microtúbulos
SPANIEN
Cataluña
BARCELONA
Disrupting the ACVR1-PI3K axis in fibrodysplasia ossificans progressiva: towards novel therapies for heterotopic ossification
Universitat de Barcelona. Facultat de Medicina
Grupo de Endocrinologia y Metabolismo
SPANIEN
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
SPANIEN
Cataluña
ESPLUGUES DE LLOBREGAT
The gut microbiome as a therapeutic target in Prader-Willi syndrome: effects on metabolic health and social behavior
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
SPANIEN
Cataluña
ESPLUGUES DE LLOBREGAT
TeraTRAF: Approach to therapy in pathologies due to mutations in TRAF7
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación del Metabolismo energético mitocondrial
SPANIEN
Cataluña
SABADELL
Effect of deep propioception stimulation on sleep disorders, behaviour and brain connectivity in adults with Prader-Willi syndrome
Parc Taulí Hospital Universitari
Fundació Parc Taulí - Institut Universitari UAB
SPANIEN
Comunidad Valenciana
SANT JOAN D'ALACANT
Neuronal Spurious Transcription And Enhanceropathy In The Etiology Of Intellectual Disability
Instituto de Neurociencias de Alicante (CSIC-UMH)
Regulación transcripcional de la plasticidad neural
SPANIEN
Comunidad Valenciana
VALENCIA
Linking cellular defects with clinical manifestations in Cohen syndrome
Centro de Investigación Príncipe Felipe (CIPF)
Banco de Líneas Celulares
SPANIEN
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
SPANIEN
Madrid
MADRID
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - ES
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia
SPANIEN
Madrid
MADRID
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - ES
Hospital Universitario Fundación Jiménez Díaz
UNGARN
Közép-Magyarország
BUDAPEST
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology
VEREINIGTE STAATEN
Maryland
BETHESDA
Drug repurposing screening for rare and neglected diseases
National Center for Advancing Translational Sciences (NCATS-NIH)
Therapeutic Development Branch
VEREINIGTE STAATEN
Maryland
BETHESDA
Bmp inhibitors to treat fibrodysplasia ossificans progressiva
National Center for Advancing Translational Sciences (NCATS-NIH)
Therapeutics for Rare and Neglected Diseases
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Functional characterization of a causative gene for intellectual disability
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Therapeutics for rare and neglected diseases - science
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Development of bone morphogenetic protein inhibitors to treat blood and bone disorders
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
A drug-screening platform for autism spectrum disorders using human neurons and astrocytes
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Use of rapamycin for the treatment of hypertrophic cardiomyopathy in patients with leopard syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Lum-001 as a treatment for creatine transporter deficiency
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Long-acting parathyroid hormone analog for the treatment of hypoparathyroidism
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Fanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetics of brain development
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Generation of induced pluripotent stem (ips) cell lines from somatic cells of participants with eye diseases and from somatic cells of matched controls
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
National ophthalmic disease genotyping and phenotyping network - eyegene
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Neuro-ophthalmic mechanisms of disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Innate immune regulation of stem cells in bone formation
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Accessory membrane and intracellular mediators in bone cell mechanotransduction
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Intersection of upregulated bmp signaling & cellular mechanotransduction in fibrodysplasia ossificans progressiva (fop)
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Using a disease-affected cell to synthesize its own drug
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms regulating neural progenitor expansion in the developing brain
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Prdm16 function in neural development
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of fmrp mediated translational repression
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Neural coordination and discoordination in fmr1 null mice
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Zfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
The role of arl13b in transcription-independent sonic hedgehog regulation of axon guidance
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Fmr1 premutation phenotypes in population-based & clinically-ascertained samples
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Impact of cognition on balance and gait markers for fxtas
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Loss and rescue of endocannabinoid-dependent ltp and memory in fragile-x model mice
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Memory measures for clinical trials in down syndrome and fragile x syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
The effects of parenting on the development and behavior of adolescents with fxs
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Cardiac interaction networks as determinants of transcriptional specificity
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Characterization of the role of pofut2-mediated o-fucosylation in folding thrombospondin type 1 repeats and development
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic therapy and prader-willi syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Fa ddr pathway in germline integrity
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Function of slack potassium channels in early onset epilepsy and intellectual disabilities
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Oxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
A zebrafish model of phenotypic variation associated with fraser syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Clinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetic architecture and molecular pathogenesis of joubert syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genes for non-syndromic congenital heart disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Impact of cgg repeats on fmr1 gene function and human health
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of congenital heart disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
In vivo lentiviral gene therapy for hurler syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Inborn errors of cholesterol synthesis
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mammalian developmental genetics and stem cells
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of neocortical and sensory hyperexcitability in fragile x syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Molecular and synaptic mechanisms of auditory circuit dysfunction in fxs mice
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Potassium channels and dendritic function in hippocampal pyramidal neurons
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 3: cellular architectonics and local circuits
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 4: neuroimaging of social circuitry
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 5: characterization of social phenotype
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Rescuing fragile x syndrome by targeting p70 s6 kinase 1
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Rescuing the fragile x syndrome by cpeb depletion
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Strategies to rescue pi3k dysregulation in fragile x syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Nipbl, cohesin and related structural birth defects
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Signaling pathways regulating oligodendrocyte development and function
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Developing an Integrated Rare Disease Bioinformatics Resource to Determine Phenotype to Genotype Correlations
Institution: Information not provided - US
VEREINIGTE STAATEN
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
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Exploring the role of gonadotropins in Down syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Ocular complications of CHARGE Syndrome: The role of Sox11
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Stimulating Retina Regeneration from Muller Cells in Progressive Retinal Degenerations
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Structural basis of BBSome-mediated ciliary exit
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
The contribution of innate immunity to heterotopic ossification in fibrodysplasia ossificans progressiva
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Characterizing the neural crest response to BMP signaling through gastrulation and neurulation - US
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
The Role of Astrocytes in the Fragile X Pathogenesis
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Human cerebral organoids as a model system for neural development and disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
The FMR1 CGG repeat as functional element and therapeutic target in Fragile X associated disorders
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Molecular underpinnings of Prader-Willi syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Imprinted snoRNA loci and circadian entrainment
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Preparing for a Clinical Trial in Kabuki Syndrome- Characterization of Cognitive and Neuroanatomical Features and Pilot Treatment Trial
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Role of Beta3-Glucosyltransferase in a non-canonical quality control pathway
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Circuit Defects Underlying Sensory Hypersensitivity in Fragile X Syndrome
Institution: Information not provided - US
VEREINIGTES KONIGREICH
Greater Manchester
ADDRESS: NOT PROVIDED - UK
Characterizing the neural crest response to BMP signaling through gastrulation and neurulation - UK
Institution: Information not provided - UK
VEREINIGTES KONIGREICH
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
DEUTSCHLAND
Nordrhein-Westfalen
AACHEN
Aberrante Imprinting-Muster beim Menschen: Einsatz genomweiter Verfahren zum besseren Verständnis der Imprinting-Regulation und seiner Störungen
Universitätsklinikum Aachen
Institut für Humangenetik
FRANKREICH
ILE-DE-FRANCE
PARIS
OPALE: Laminopathies and emerinopathies patient Observatory
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
ITALIEN
CAMPANIA
NAPOLI
Analysis of ARX mutations in patients with neurodevelopmental diseases (NDDs)
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty
SPANIEN
Cataluña
ESPLUGUES DE LLOBREGAT
M.BRAIN: Brain organoids for MAGEL2 related syndromes
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación del Metabolismo energético mitocondrial
VEREINIGTE STAATEN
South Dakota
SIOUX FALLS
The cellular functions of Notch signaling that prevent the renal cysts associated with the Alagille Syndrome and Hadju-Cheney Syndrome
Sanford Research
Surendran Lab
VEREINIGTE STAATEN
South Dakota
SIOUX FALLS
Cellular and molecular mechanisms by which aberrant Notch signaling causes cystic kidney disease
Sanford Research
Surendran Lab
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Skeletal Genomics
Institution: Information not provided - US
VEREINIGTES KONIGREICH
Hampshire
SOUTHAMPTON
Imprinting Disorders Finding Out Why (observational clinical study, mutation search - PLAGL1, ZFP57 and IGF2 genes) and genotype-phenotype correlation)
Faculty of Medicine - University of Southampton
Human Genetics
VEREINIGTES KONIGREICH
Lothian
EDINBURGH
Identification of genes for Microcephalic Primordial Dwarfism (MOPD I, MOPD II, Seckel syndrome and Meier-Gorlin syndrome), and Primary Microcephaly (with short stature)
Western General Hospital
MRC Human Genetics Unit
DEUTSCHLAND
Sachsen
DRESDEN
Zerebrale Organoide als Model des neuronalen Phänotyps von nicht-muskulären Aktinopathien
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
FRANKREICH
ILE-DE-FRANCE
GARCHES
Laminar sub-cortical heterotopies and lissencephalies: radio-clinical correlations and mutations in the double cortin gene
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Unité : Neurologie Pédiatrique
KANADA
Ontario
TORONTO
Improving treatment for GRIN disorders
University of Toronto
Department of Pharmacology & Toxicology
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
The role of dystroglycan in neural circuit development.
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Functional mechanisms underlying dystroglycan-dependent and independent roles of protein o-mannosylation in the nervous system
Institution: Information not provided - US
Multizentrische Forschungsprojekte
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Cliniques universitaires Saint-Luc - UCLouvain
- Laboratory of Nephrology
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- CECAD Research Center
- Exzellenzcluster CECAD in der Universität zu Köln
- Universitätsklinikum Carl Gustav Carus an der TU Dresden
- Institut für Klinische Genetik
- CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
- Service d'epileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant
- CHU Paris - Hôpital Robert Debré
- UF de Génétique clinique
- IFM - Institut du Fer à Moulin
- Equipe " Développement cortical et pathologie "
- Université Paul Sabatier
- Laboratoire de Biologie Moléculaire Eucaryote - UMR 5099
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- IRCCS Istituto Europeo di Oncologia
- Stem cell epigenetics Unit
- Fondazione IRCCS Policlinico San Matteo
- Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti
- Azienda Ospedaliera Universitaria Anna Meyer
- Neurologia Pediatrica
- University of Trento
- Chromatin & Epigenetics Laboratory
- Institution: Information not provided - CA
- McGill University
- Division of Endocrinology and Metabolism
- CHU Sainte-Justine
- Département de pédiatrie
- Centre hospitalier universitaire Sainte-Justine
- Génétique médicale
- Montreal Neurological Institute and Hospital
- McGill University
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- UMC Utrecht - Universitair Medisch Centrum Utrecht
- Section Genetics
- Centre Hospitalier Universitaire Vaudois CHUV
- Service de recherche en oncologie
- Centro de Regulación Genómica
- Hospital Universitario Fundación Jiménez Díaz
- Institution: Information not provided - US
- Developmental Psychiatry - University of Cambridge
- Learning Disabilities Research Group
- Department of Health
- UCL Institute for Women's Health
- UCLH Women's Health Division
DEUTSCHLAND
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
BELGIEN
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: the European network for the study of orphan nephropathies
DEUTSCHLAND
Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations
DEUTSCHLAND
Nordrhein-Westfalen
KÖLN
TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases
DEUTSCHLAND
Sachsen
DRESDEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies
FRANKREICH
AUVERGNE-RHONE-ALPES
BRON
NEUROPED: European network of reference for rare paediatric neurological diseases
FRANKREICH
ILE-DE-FRANCE
PARIS
EUROMICRO: Primary monogenic microcephalies : from genetics to pathophysiology and the clinic
FRANKREICH
ILE-DE-FRANCE
PARIS
HETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations
FRANKREICH
OCCITANIE
TOULOUSE
RIBOEUROPE: The European Ribosomopathy Consortium
ITALIEN
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
ITALIEN
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
ITALIEN
LOMBARDIA
MILANO
DISEASEAVATARS: Modeling Disease through Cell Reprogramming: a Translational Approach to the Pathogenesis of Syndromes Caused by Symmetrical Gene Dosage Imbalances
ITALIEN
LOMBARDIA
PAVIA
GIMS: Interdisciplinary Team for Marfan Syndrome
ITALIEN
TOSCANA
FIRENZE
DESIRE: Development and Epilepsy - Strategies for innovative research to improve diagnosis, prevention and treatment in children with difficult to treat epilepsy
ITALIEN
TRENTINO ALTO ADIGE
POVO
Chrom_rare: Unveiling the molecular basis of chromatinopathies to delineate innovative therapeutic solutions
KANADA
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
KANADA
Québec
MONTREAL,
PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure
KANADA
Québec
MONTRÉAL
CoHEART : Improving care for Cohesinopathies, from heart phenotypes to novel therapies
KANADA
Québec
MONTRÉAL
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment
KANADA
Québec
MONTRÉAL
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome
NIEDERLANDE
Gelderland
NIJMEGEN
EURO-MRX: European mental retardation consortium
NIEDERLANDE
Gelderland
NIJMEGEN
IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy
NIEDERLANDE
Utrecht
UTRECHT
CantuTreat: Sulfonylurea drugs to treat Cantú syndrome
SCHWEIZ
Suisse Romande
LAUSANNE
TheraLymph: Therapeutic approaches for treatment of hereditary lymphedema
SPANIEN
Cataluña
BARCELONA
CUREFXS: targeting Rho-signalling, a new therapeutic avenue in fragile-X syndrome
SPANIEN
Madrid
MADRID
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Characterizing the neural crest response to BMP signaling through gastrulation and neurulation
VEREINIGTES KONIGREICH
Cambridgeshire
CAMBRIDGE
PWS: Prader-Willi Syndrome: a model linking gene expression, obesity and mental health
VEREINIGTES KONIGREICH
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
VEREINIGTES KONIGREICH
Greater London
LONDON