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245 Resultado(s)

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Financiado por um membro do IRDiRC =

Projetos de investigação

BELGICA

VLAAMS BRABANT
LEUVEN

Identification and characterisation of genes causing congenital anomalies and intellectual disability
University Hospitals Leuven - Gasthuisberg
Centrum Menselijke Erfelijkheid

ESPANHA

Madrid
MADRID

ALEMANHA

Baden-Württemberg
TÜBINGEN

Generation and characterization of new mouse models and transcription profiling (FOR 2715: Epileptogenesis of genetic epilepsies)
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurologie mit Schwerpunkt Epileptologie

ALEMANHA

Baden-Württemberg
TÜBINGEN

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

ALEMANHA

Bayern
WÜRZBURG

ALEMANHA

Berlin
BERLIN

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

ALEMANHA

Niedersachsen
GÖTTINGEN

ALEMANHA

Sachsen
DRESDEN

Function of RNase Inhibitor 1 in the pathogenesis of systemic autoimmunity
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinische Forschung

ALEMANHA

Schleswig-Holstein
KIEL

Generation and characterization of new mouse models and transcription profiling (FOR 2715: Epileptogenesis of genetic epilepsies)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Kinder- und Jugendmedizin II : Neuropädiatrie und Sozialpädiatrie

AUSTRIA

NIEDERÖSTERREICH
KLOSTERNEUBURG

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Empowering Families through Technology: a mobile-health project to reduce the TAND identification and treatment gap (TANDem)
Universitair Ziekenhuis Brussel - UZ Brussel
Pediatric neurology / Neurologie Kinderen

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

Financiado por um membro do IRDiRCDeciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute

CANADA

Ontario
TORONTO

Financiado por um membro do IRDiRCFunctional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto
Department of Molecular Genetics

ESPANHA

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

ESPANHA

Andalucía
SEVILLA

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

ESPANHA

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

ESPANHA

Comunidad Valenciana
SANT JOAN D'ALACANT

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

ESPANHA

Madrid
CANTOBLANCO

Molecular basis of immunodeficiency in Wolf-Hirschhorn Syndrome (4p-)
CBMSO - Centro de Biología Molecular Severo Ochoa
Departamento de Biología Celular e Inmunología

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCell biology of metabolic disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetics of brain development
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCVision defects associated with loss of c-vps function
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanotransduction and the regulation of skeletal muscle mass
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPrdm16 function in neural development
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCircadian and sleep programming in angelman syndrome mouse models
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFilamin a in tsc
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of synapse remodeling in tsc
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 3: cellular architectonics and local circuits
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 4: neuroimaging of social circuitry
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 5: characterization of social phenotype
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProtein trafficking in the endosomal-lysosomal system
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNipbl, cohesin and related structural birth defects
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular etiology of structural birth defects in cdls
Institution: Information not provided - US

FRANCA

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

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCUnderstanding the roles of tRNAs modifications in cerebral corticogenesis through the investigation of an ADAT3 knock-in model
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do IRDiRCExploiting 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

FRANCA

OCCITANIE
MONTPELLIER

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Financiado por um membro do IRDiRCCaGeD : Cardiogenic Genome Dynamics
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Financiado por um membro do IRDiRCHETER-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

ITALIA

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

ITALIA

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

ITALIA

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

ITALIA

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

ITALIA

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

ITALIA

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

ITALIA

LAZIO
ROMA

Financiado por um membro do 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

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCRegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LIGURIA
GENOVA

Financiado por um membro do 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

ITALIA

LOMBARDIA
CUSANO MILANINO

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCGenetic and pharmacological rescue of TM4SF2 loss of function in animal model and iPS cells
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze

JAPAO

JAPAN
MIYAGI

Financiado por um membro do IRDiRCPathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCExploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCStudy of clinical features and treatment of imprinting disorders and related disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

JAPAO

JAPAN
TOKYO

Financiado por um membro do 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

PAISES BAIXOS

Gelderland
NIJMEGEN

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

PAISES BAIXOS

Noord-Holland
AMSTERDAM

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

PAISES BAIXOS

Noord-Holland
AMSTERDAM

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

PAISES BAIXOS

Noord-Holland
AMSTERDAM

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

PAISES BAIXOS

Noord-Holland
AMSTERDAM

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

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Causes of Nicolaides-Baraitser Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

REINO UNIDO

Greater London
LONDON

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

SUECIA

Landstinget i Uppsala län
UPPSALA

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

SUECIA

Stockholms läns landsting
STOCKHOLM

ALEMANHA

Baden-Württemberg
FREIBURG

ALEMANHA

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

ALEMANHA

Hamburg
HAMBURG

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

ALEMANHA

Niedersachsen
GÖTTINGEN

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

ALEMANHA

Rheinland-Pfalz
MAINZ

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

ALEMANHA

Saarland
HOMBURG

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

AUSTRIA

STEIERMARK
GRAZ

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

ESPANHA

Castilla - León
SALAMANCA

Function of E3 ubiquitin ligase APC/C-Cdh1 in the pathophysiology of fragile X syndrome. Possible therapeutic application
IBSAL - Instituto de Investigación Biomédica de Salamanca
Neurobiología molecular

ESPANHA

Murcia
MURCIA

Dyskeratosis congenita. New models, new molecular keys and new treatments
IMIB - Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca
Grupo de Cirugía digestiva, endocrina y trasplante de órganos abdominales

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThalamocortical circuit defects in developmental brain disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCWnt signaling-mediated control of blood-retinal barrier
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCUsing a disease-affected cell to synthesize its own drug
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of fmrp mediated translational repression
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeural coordination and discoordination in fmr1 null mice
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThe mechanism of rett syndrome rescue by astrocytes
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCImpact of cognition on balance and gait markers for fxtas
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMitochondrial ros and microglia in rett syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCOxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCImpact of cgg repeats on fmr1 gene function and human health
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInborn errors of cholesterol synthesis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMammalian developmental genetics and stem cells
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPhenotypic characterization of mecp2 mice
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRescuing fragile x syndrome by targeting p70 s6 kinase 1
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRescuing the fragile x syndrome by cpeb depletion
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCStrategies to rescue pi3k dysregulation in fragile x syndrome
Institution: Information not provided - US

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

GRAND-EST
STRASBOURG

Financiado por um membro do IRDiRCStudy of two neuromuscular diseases due to mutations in myotubularins MTM1 or MTMR2 by using yeast, cell lines and mice models
Génétique Moléculaire Génomique Microbiologie - GMGM
Trafic membranaire et signalisation lipidique

FRANCA

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

FRANCA

ILE-DE-FRANCE
PARIS

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

FRANCA

ILE-DE-FRANCE
PARIS

Role of FOXG1/TLE1 complex in the neuronal proliferation-differentiation switch in patients derived neuronal stem/progenitor cells
IMAGINE - Institut des Maladies Génétiques
Equipe "Embryologie et Génétiques des malformations congénitales"

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCInduced pluripotent stem cells to treat pelizaeus merzbacher disease
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Plasticité et régénération de la myéline"

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

Financiado por um membro do 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

FRANCA

OCCITANIE
MONTPELLIER

FRANCA

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

FRANCA

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

IRLANDA

County Dublin
DUBLIN

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIA

LAZIO
ROMA

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

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCRescuing epilepsy associated with SYN1 gene mutations by inhibiting eEF2K/eEF2 pathway
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do 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)

ITALIA

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 - Ospedale Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALIA

TOSCANA
SIENA

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

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCMolecular basis research for exploring inovative therapies of Rett syndrome
National Center of Neurology and Psychiatry
Department of Mental Retardation and Birth Defect Research

JAPAO

JAPAN
TOKYO

Financiado por um membro do 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

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

Financiado por um membro do IRDiRCThe role of nuclear UBE3A in the pathophysiology of Angelman Syndrome
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen

SUECIA

Stockholms läns landsting
HUDDINGE

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

ALEMANHA

Nordrhein-Westfalen
MÜNSTER

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

ALEMANHA

Sachsen
DRESDEN

Non-muscular actinopathies: Baraitser-Winter Cerebrofrontofacial syndrome and related disorders
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

AUSTRIA

WIEN
WIEN

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

ESPANHA

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

ESPANHA

Cataluña
ESPLUGUES DE LLOBREGAT

Connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model
Hospital Sant Joan de Déu Barcelona
Instituto Pediátrico de Enfermedades Raras

ESPANHA

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

ESPANHA

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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCLum-001 as a treatment for creatine transporter deficiency
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThe role of dystroglycan in neural circuit development.
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCDisorders of copper transport
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInherited disorders of copper transport
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGene therapy for urea cycle disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBarriers to achieving efficient gene therapy
Institution: Information not provided - US

FINLANDIA

Finland
HELSINKI

Creatine transporter defect - a new syndrome with mental retardation
HUS - Helsinki University Hospital
Department of Clinical Genetics

FRANCA

AUVERGNE-RHONE-ALPES
GRENOBLE

Physiopathological studies of Lowe's syndrome and Dent's disease, two clinical entities with common molecular basis?
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie

FRANCA

ILE-DE-FRANCE
PARIS

Analysis of cardiac phenotype and underlying genotype in glycogen storage disease type 2B
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires

ITALIA

CAMPANIA
NAPOLI

ITALIA

EMILIA ROMAGNA
FERRARA

Financiado por um membro do 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

ITALIA

LIGURIA
GENOVA

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

JAPAO

JAPAN
HYOGO

Financiado por um membro do IRDiRCDevelopment ofa new molecular targeted therapy for Fukuyama muscular dystrophy
Kobe University Graduate School of Medicine
Department of Pediatrics

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCDevelopment of Gene Therapy for Mucopolysaccharidosis Type II
The Jikei University School of Medicine
Division of Gene Therapy, Research Center for Medical Sciences

REINO UNIDO

Greater Manchester
ADDRESS: NOT PROVIDED - UK

ITALIA

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

Projetos de investigação multicêntricos