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Financé par un membre IRDiRC = Membre d'un ERN =

Projets de recherche

ALLEMAGNE

Baden-Württemberg
TÜBINGEN

ESPED-study: Omphaloceles and Associated Malformations in Preterm and Term Newborns
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie

ALLEMAGNE

Berlin
BERLIN

Functional characterisation of the protein kinase cyclin-dependent kinase like 5 (CDKL5)
Max-Planck-Institut für molekulare Genetik
Abteilung Human Molecular Genetics

ALLEMAGNE

Niedersachsen
GÖTTINGEN

ALLEMAGNE

Sachsen
DRESDEN

Function of RNase Inhibitor 1 in the pathogenesis of systemic autoimmunity
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin

ALLEMAGNE

Sachsen
DRESDEN

TRR 237 - Nucleic Acid Immunity: Phenotypic and genetic dissection of type I interferonopathies (B21)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin

AUTRICHE

NIEDERÖSTERREICH
KLOSTERNEUBURG

BELGIQUE

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CANADA

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

CANADA

Ontario
TORONTO

CANADA

Ontario
TORONTO

Financé par un membre IRDiRCDeciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute

CANADA

Ontario
TORONTO

Financé par un membre IRDiRCFunctional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto
Department of Molecular Genetics

ESPAGNE

Andalucía
SEVILLA

New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair
CABIMER - Centro Andaluz de Biología Molecular y Medicina Regenerativa
Reparación de cortes de doble cadena en el DNA

ESPAGNE

Andalucía
SEVILLA

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica

ESPAGNE

Cataluña
BARCELONA

Functional and identification studies of therapeutic strategies in intellectual disability: TRIM28, TRAF7 and MAGEL2
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana

ESPAGNE

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular mechanisms underlying Zic2-associated holoprosencephaly
Instituto de Neurociencias de Alicante (CSIC-UMH)
Unidad de Neurobiología del Desarrollo

ESPAGNE

Madrid
MADRID

Financé par un membre IRDiRCDeciphering the genetic complexity of congenital hypopituitarism
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular

ESPAGNE

Madrid
MADRID

Financé par un membre IRDiRCGenomic evaluation in Wolf-Hirschhorn syndrome; Customized SNPS microarrays and candidate genes: approach to dental disorders and complex epilepsy
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCCell biology of metabolic disorders
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCGenetics of brain development
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCVision defects associated with loss of c-vps function
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCNeuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCMechanotransduction and the regulation of skeletal muscle mass
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCPrdm16 function in neural development
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCCircadian and sleep programming in angelman syndrome mouse models
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCFilamin a in tsc
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCProject III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCMechanisms of synapse remodeling in tsc
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCProject 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCProject 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCProject 3: cellular architectonics and local circuits
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCProject 4: neuroimaging of social circuitry
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCProject 5: characterization of social phenotype
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCProject I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCProtein trafficking in the endosomal-lysosomal system
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCNipbl, cohesin and related structural birth defects
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCMolecular etiology of structural birth defects in cdls
Institution: Information not provided - US

FINLANDE

Finland
HELSINKI

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Détection prénatale non invasive d'aneuploïdies sur plasma maternel par séquençage haut débit ciblé
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financé par un membre IRDiRCComprendre les rôles des modifications de l'ARNt dans la corticogenèse cérébrale par l'étude d'un modèle knock-in ADAT3
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCE

OCCITANIE
MONTPELLIER

Financé par un membre IRDiRCExploiter l'édition de l'épigénome dans le syndrome de Kabuki: une nouvelle voie vers la thérapie génique pour les troubles génétiques rares
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Equipe Maladies Génétiques de l'Enfant et de l'Adulte

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Financé par un membre IRDiRCCaGeD : Dynamiques Cardiogeniques du Genome
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Financé par un membre IRDiRCHETER-OMICS: Interrogatoire Multi-OMICS des malformations corticales cérébrales - FR
Institut de neurobiologie de la méditerranée (INMED)
Bases moléculaires et physiopathologie des malformations du cortex cérébral

ITALIE

CAMPANIA
NAPOLI

Financé par un membre IRDiRCDissecting the aristaless-related homeobox epilepsy path to find druggable target molecules
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso"

ITALIE

LAZIO
ROMA

Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
S.S. di Genetica Medica

ITALIE

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

ITALIE

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

ITALIE

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

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCInnovative therapeutic approaches for CDKL5 Deficiency Disorder, a rare neurodevelopmental disorder of genetic origin
ISS - Istituto Superiore di Sanità
Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCRegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIE

LIGURIA
GENOVA

Financé par un membre IRDiRCTargeting 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

ITALIE

LOMBARDIA
CUSANO MILANINO

ITALIE

LOMBARDIA
MILANO

Financé par un membre IRDiRCIdentification of neuronal alterations underlying SHANK3 mutations and their rescue by genetic pharmacological therapies in animal models and patients derived IPS cells
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

JAPON

JAPAN
MIYAGI

Financé par un membre IRDiRCPathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

JAPON

JAPAN
TOKYO

Financé par un membre IRDiRCStudy of clinical features and treatment of imprinting disorders and related disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

JAPON

JAPAN
TOKYO

Financé par un membre IRDiRCScreening of novel therapeutics for intellectual disability and autism in tuberous sclerosis complex
Tokyo Metropolitan Institute of Medical Science
Department of Brain Development and Neural Regeneration

NORVEGE

Østlandet
OSLO

Effectiveness and safety of mTOR-inhibitor in patients with tuberous sclerosis complex
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

PAYS-BAS

Gelderland
NIJMEGEN

TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

PAYS-BAS

Noord-Holland
AMSTERDAM

Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

PAYS-BAS

Noord-Holland
AMSTERDAM

Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

PAYS-BAS

Noord-Holland
AMSTERDAM

Causes of Nicolaides-Baraitser Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

PAYS-BAS

Noord-Holland
AMSTERDAM

Keloid formation in Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

ROYAUME-UNI

Greater London
LONDON

The genetic causes of Nephrotic syndrome
Evelina London Children's Hospital
Paediatric Nephrology

SUEDE

Region Stockholm
STOCKHOLM

SUEDE

Region Uppsala
UPPSALA

Down syndrome: clinical, epidemiological and molecular characterisation
Uppsala Universitet
Department of immunology, Genetics and Pathology, IGP

ALLEMAGNE

Baden-Württemberg
FREIBURG

ALLEMAGNE

Berlin
BERLIN

SPP 1629: THYROID TRANS ACT - Development of T3-peptide ligands to treat MCT8 deficiency via a Trojan horse like mechanism
Charité - Universitätsmedizin Berlin (CVK)
Institut für Experimentelle Pädiatrische Endokrinologie

ALLEMAGNE

Hamburg
HAMBURG

Molecular and functional investigation on microphthalmia with linear skin defects (MLS) - syndrome
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

ALLEMAGNE

Niedersachsen
GÖTTINGEN

Development of therapeutic strategies for Rett syndrome
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

ALLEMAGNE

Rheinland-Pfalz
MAINZ

Therapeutic strategies for preclinical treatment of L1 syndrome
Universitätsmedizin Mainz
Klinik für Anästhesiologie

ALLEMAGNE

Saarland
HOMBURG

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

AUTRICHE

STEIERMARK
GRAZ

ICon-E: Initial Concerns Extended. Lessons from Fragile X Syndrome.
Medizinische Universität Graz
Institut für Physiologie

ESPAGNE

Madrid
MADRID

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCThalamocortical circuit defects in developmental brain disorders
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCWnt signaling-mediated control of blood-retinal barrier
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCUsing a disease-affected cell to synthesize its own drug
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCMechanisms of fmrp mediated translational repression
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCNeural coordination and discoordination in fmr1 null mice
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCThe mechanism of rett syndrome rescue by astrocytes
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCImpact of cognition on balance and gait markers for fxtas
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCMitochondrial ros and microglia in rett syndrome
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCOxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCClinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCImpact of cgg repeats on fmr1 gene function and human health
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCInborn errors of cholesterol synthesis
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCMammalian developmental genetics and stem cells
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCPhenotypic characterization of mecp2 mice
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCRescuing fragile x syndrome by targeting p70 s6 kinase 1
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCRescuing the fragile x syndrome by cpeb depletion
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCStrategies to rescue pi3k dysregulation in fragile x syndrome
Institution: Information not provided - US

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Financé par un membre IRDiRCMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

GRAND-EST
STRASBOURG

FRANCE

ILE-DE-FRANCE
GARCHES

FRANCE

ILE-DE-FRANCE
PARIS

Maladies hématologiques constitutionnelles: recherche clinique, thérapeutique; biologie moléculaire
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

FRANCE

ILE-DE-FRANCE
PARIS

Rôle du complexe FOXG1/TLE1 dans la balance prolifération - différenciation neuronal dans des cellules souches/progénitrices dérivées de cellules de patients
IMAGINE - Institut des Maladies Génétiques
Equipe "Embryologie et Génétiques des malformations congénitales"

FRANCE

ILE-DE-FRANCE
PARIS

Financé par un membre IRDiRCCellules souches pluripotentes induites pour traiter la maladie de Pelizaeus merzbacher
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Plasticité et régénération de la myéline"

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Financé par un membre IRDiRCAdenylosuccinate Lyase deficiency - from metabolic deficiency to muscle disease using C. elegans as model organism
Institut de Biochimie et Génétique Cellulaires - UMR 5095
Génétique des voies métaboliques

FRANCE

PAYS DE LA LOIRE
NANTES

Corrélation génotype-phénotype et étude de la pénétrance du syndrome FXTAS: étude des porteurs de la prémutation FMR1
CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
Centre d'investigation clinique neuro-psycho-pharmacologie

FRANCE

PROVENCE-ALPES-COTE D'AZUR
VALBONNE

Physiopathologie du retard mental: syndrome de l' X fragile et retard mental associé au site FRAXE en Xq28
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275

IRLANDE

County Dublin
DUBLIN

ITALIE

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIE

LAZIO
ROMA

Study of the pathogenesis of autoimmune phenomena in primary immunodeficiencies
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCCharacterization 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

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCInnovative therapeutic approaches for Rett syndrome, a rare neurodevelopmental disorder of genetic origin
ISS - Istituto Superiore di Sanità
Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCImproving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIE

LOMBARDIA
MILANO

Financé par un membre IRDiRCRescuing epilepsy associated with SYN1 gene mutations by inhibiting eEF2K/eEF2 pathway
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze

ITALIE

LOMBARDIA
MILANO

Financé par un membre IRDiRCCongenital Rett Syndrome cellular and mouse models for the study of FOXG1 impact on forebrain neurogenesis
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

ITALIE

TOSCANA
SIENA

Analysis of HLA genes to assess genetic susceptibility to vaccines as a component of the pathogenesis of Rett syndrome
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALIE

TOSCANA
SIENA

Study protocol for the application of the test array-CGH in prenatal diagnosis in Rett syndrome
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

JAPON

JAPAN
TOKYO

Financé par un membre IRDiRCMolecular basis research for exploring inovative therapies of Rett syndrome
National Center of Neurology and Psychiatry
Department of Mental Retardation and Birth Defect Research

JAPON

JAPAN
TOKYO

Financé par un membre IRDiRCComprehensive study for clinical support and making guideline of Rett syndrome and MECP2 duplication syndrome
National Center of Neurology and Psychiatry
Department of Mental Retardation and Birth Defect Research

PAYS-BAS

Zuid-Holland
ROTTERDAM

Financé par un membre IRDiRCThe role of nuclear UBE3A in the pathophysiology of Angelman Syndrome
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen

SUEDE

Region Stockholm
HUDDINGE

Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry

ALLEMAGNE

Nordrhein-Westfalen
MÜNSTER

CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory

ALLEMAGNE

Nordrhein-Westfalen
MÜNSTER

Molecular mechanism of leukocyte migration in Leukocyte adhesion deficiendy type II
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory

AUTRICHE

WIEN
WIEN

Pharmacological rescue of creatine transporter-1 variants
Medizinische Universität Wien
Zentrum für Physiologie und Pharmakologie

ESPAGNE

Andalucía
MÁLAGA

Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica

ESPAGNE

Comunidad Valenciana
VALENCIA

Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies
Universitat de València. Facultat de Medicina i Odontologia
Departamento de Bioquímica y Biología Molecular

ESPAGNE

Madrid
CANTOBLANCO

Development of chaperone pharmacological therapy for PMM2-congenital disorder of glycosylation
Universidad Autónoma de Madrid. Facultad de Ciencias
Centro de Diagnóstico de Enfermedades Moleculares

ESPAGNE

Madrid
MADRID

Financé par un membre IRDiRCNext generation sequencing for diagnosis of hemolytic anemia
Hospital Clínico San Carlos
Laboratorio de Hemoglobinopatías y Talasemias

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCLum-001 as a treatment for creatine transporter deficiency
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCThe role of dystroglycan in neural circuit development.
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCDisorders of copper transport
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCInherited disorders of copper transport
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCGene therapy for urea cycle disorders
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCBarriers to achieving efficient gene therapy
Institution: Information not provided - US

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Etudes physiopathologiques du syndrome de Lowe et de la maladie de Dent, deux entités cliniques partageant une base moléculaire commune?
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie

FRANCE

ILE-DE-FRANCE
PARIS

Analyse du phénotype cardiaque et du génotype sous jacent dans la maladie de Danon
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires

ITALIE

CAMPANIA
NAPOLI

ITALIE

EMILIA ROMAGNA
FERRARA

Financé par un membre IRDiRCRNA-based therapeutics for OTC deficiency
Università degli Studi di Ferrara - Dip. di Scienze della vita e biotecnologie
Dipartimento di Scienze della vita e biotecnologie

ITALIE

LIGURIA
GENOVA

Molecular characterization of metabolic-genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

JAPON

JAPAN
HYOGO

Financé par un membre IRDiRCDevelopment ofa new molecular targeted therapy for Fukuyama muscular dystrophy
Kobe University Graduate School of Medicine
Department of Pediatrics

JAPON

JAPAN
TOKYO

Financé par un membre IRDiRCDevelopment of Gene Therapy for Mucopolysaccharidosis Type II
The Jikei University School of Medicine
Division of Gene Therapy, Research Center for Medical Sciences

SUISSE

Suisse Alémanique
ZURICH

Establishment of in vivo CRISPR-Cas base editor approaches to treat monogenetic liver diseases
ETH Zurich - Hönggerberg campus
Institute of Molecular Health Sciences

ITALIE

TOSCANA
SIENA

Preclinical testing of PNP inhibitors analogues of Immucillin-G for therapy of Lesh-Nyhan disease: preliminary in vitro studies
Università degli Studi di Siena - Presidio San Miniato
Sezione di Biochimica e Biologia Molecolare

Projets de recherche multicentriques