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233 Resultado(s)

Ordenados por

Financiado por um membro do IRDiRC = Membro de uma ERN =

Projetos de investigação

CANADA

Ontario
TORONTO

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

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

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

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

ALEMANHA

Baden-Württemberg
FREIBURG

ALEMANHA

Baden-Württemberg
FREIBURG

Financiado por um membro do IRDiRCLRBA deficiency: clinical phenotype, biological pathomechanisms and murine model
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALEMANHA

Baden-Württemberg
FREIBURG

Financiado por um membro do IRDiRCGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe

ALEMANHA

Baden-Württemberg
ULM

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

ALEMANHA

Bayern
WÜRZBURG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

ALEMANHA

Hessen
FRANKFURT AM MAIN

ALEMANHA

Niedersachsen
GÖTTINGEN

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

ALEMANHA

Niedersachsen
HANNOVER

Financiado por um membro do IRDiRCGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Rheumatologie und Immunologie

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie

ALEMANHA

Sachsen
LEIPZIG

High-throughput mutation analysis for known and novel single-gene causes of kidney stones and related disorders
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Endokrinologie, Nephrologie, Rheumatologie

ALEMANHA

Sachsen-Anhalt
MAGDEBURG

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

ALEMANHA

Schleswig-Holstein
KIEL

Financiado por um membro do IRDiRCGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin I

CANADA

Ontario
KINGSTON

Financiado por um membro do IRDiRCIIH-ECC: Idiopathic Infantile Hypercalcemia - European-Canadian Consortium - CA
Queen's University
Department of Biomedical and Molecular Sciences

ESPANHA

Cataluña
BADALONA

Financiado por um membro do IRDiRCDIMINUTES, Childhood and adult myotonic dystrophy: evaluation of new treatments and pathogenicity through genetic, epigenetic and molecular imaging analysis
Instituto de Investigación Germans Trias i Pujol
Grupo de investigación en neuromuscular y neuropediátrica

ESPANHA

Cataluña
L'HOSPITALET DE LLOBREGAT

Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

ESPANHA

Cataluña
L'HOSPITALET DE LLOBREGAT

Pharmacological therapies for X-linked adrenoleukodystrophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

ESPANHA

Cataluña
L'HOSPITALET DE LLOBREGAT

Inflammatory lipid signaling in adrenoleukodystrophy: Integration of multiomics for markers and new therapeutic target identification
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

ESPANHA

Cataluña
L'HOSPITALET DE LLOBREGAT

Financiado por um membro do IRDiRCImpact of human gut microbiome in the phenotypic divergence in X-linked adrenoleukodystophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCMolecular, OMIC and functional characterisation of mutations in the gene DLST in patients with pheochromocytoma/paraganglioma
Centro Nacional de Investigaciones Oncológicas (CNIO)
Grupo de Cáncer Endocrino Hereditario

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCIdentification of small molecule er modulators for wolfram syndrome
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 IRDiRCContinuous subcutaneous hydrocortisone infusion treatment for cah
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCToward improved therapy for classic galactosemia
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDIA

Finland
HELSINKI

Financiado por um membro do IRDiRCDevelopment og gene and cell therapy for APECED
HUS - Helsinki University Hospital
Skin and Allergy Hospital

FINLANDIA

Finland
HELSINKI

Financiado por um membro do IRDiRCModeling the mechanisms of pituitary hormone deficiency caused by two missense mutations in KCNQ1
University of Helsinki
Stem Cells and Metabolism Research Program

FINLANDIA

Finland
HELSINKI

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCGene therapy for Wolfram Syndrome
Institution: Information not provided - FR

FRANCA

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

FRANCA

AUVERGNE-RHONE-ALPES
BRON

Monogenic diabetes (neonatal, syndromic, atypical or non-atypical): identification of responsible genes
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

BOURGOGNE-FRANCHE-COMTE
DIJON

Estimating the role of L-carnitine dependent enzymes in the regulation of very long chain fatty acids metabolism in adrenoleukodystrophy
Université de Bourgogne
Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Towards a rational therapy for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Vectors production for gene therapy of X-linked adrenoleukodystrophy (X-ALD)
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Unravel the phenotypic variability of X linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Pharmacological therapies for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

FRANCA

ILE-DE-FRANCE
PARIS

Dyslipidemia genetics: phenotype-genotype relationships; vascular consequences in children of hereditary dyslipidemia
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service de Nutrition et Gastroentérologie Pédiatriques

FRANCA

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"

FRANCA

ILE-DE-FRANCE
PARIS

Monogenic diabetes (neonatal, syndromic, atypical or non-atypical): identification of responsible genes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"

FRANCA

ILE-DE-FRANCE
VILLEJUIF

Financiado por um membro do IRDiRCTransition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases
CLCC Institut Gustave Roussy
Equipe Epidémiologie des radiations, épidémiologie clinique des cancers et survie

FRANCA

PROVENCE-ALPES-COTE D'AZUR
NICE

Adrenal stem cells: identification, generation and culture for genetic modification
Université de Nice Sophia-Antipolis - Faculté des sciences
Génétique du développement normal et pathologique

ITALIA

LAZIO
ROMA

ITALIA

LAZIO
ROMA

Genotype-phenotype correlations and therapeutic approaches in extreme insulin resistance syndromes due to mutation of the insulin receptor
A.O.U. Policlinico di Tor Vergata - Facoltà di Medicina e Chirurgia
Laboratorio di Endocrinologia e Metabolismo Molecolare

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

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

Financiado por um membro do IRDiRCAnalysis of the DM2 pathogenic mechanisms using Drosophila as model system
Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin
Dipartimento di Biologia e Biotecnologie - Charles Darwin

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCExcitatory/Inhibitory unbalance in Ataxia telangiectasia and perspective therapeutical interventions
Università degli Studi di Milano-Biotecnologie Mediche e Medicina Traslazionale
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale - Laboratorio Interdisciplinare di Tecnologie Avanzate (LITA)

JAPAO

JAPAN
EHIME

JAPAO

JAPAN
KYOTO

Financiado por um membro do IRDiRCDiscovery of novel therapeutic approach for Nakajo-Nishimura syndrome and Blau syndrome
Center for iPS Cell Research and Application, Kyoto University
Department of Clinical Application

JAPAO

JAPAN
KYOTO

Financiado por um membro do IRDiRCAdvancing Care of Rare/Intractable Adrenal Diseases in Japan Study
National Hospital Organization Kyoto Medical Center
Clinical Research Institute for Endocrine and Metabolic Diseases

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
TOKUSHIMA

Financiado por um membro do IRDiRCTherapeutic strategies for patients with immunoproteasomes dysfunctions
Tokushima University Graduate School of Biomedical Sciences
Department of Immunology and Parasitology

PAISES BAIXOS

Gelderland
NIJMEGEN

HNF1ß: master regulator of cilia formation and electrolyte homeostasis in ADTKD-HNF1ß patients
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Towards a rational therapy for X-linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Unravel the phenotypic variability of X linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

REINO UNIDO

Cambridgeshire
CAMBRIDGE

REINO UNIDO

Devon
EXETER

REINO UNIDO

West Midlands
BIRMINGHAM

EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit

REINO UNIDO

West Midlands
BIRMINGHAM

Financiado por um membro do IRDiRCClinical and laboratory based biomarker development to monitor disease progression and response to treatment in Wolfram Syndrome
Birmingham Children's Hospital NHS Foundation Trust
Alstrom, Bardet Biedl, Wolfram services

REINO UNIDO

West Midlands
BIRMINGHAM

SUECIA

Region Stockholm
STOCKHOLM

Molecular and clinical studies of bladder exstrophy and congenital adrenal hyperplasia
Karolinska Institutet - Solna
Department of Women's and Children's Health

SUICA

Suisse Alémanique
SCHLIEREN

Hematopoietic Stem Cell Gene Therapy for treatment of Ataxia telangiectasia (A-T)
Institute for Regenerative Medicine
Department Gene and Cell Therapy

SUICA

Suisse Romande
LAUSANNE

The genetic basis of combined pituitary hormone deficiency and pituitary neoplasms
Hôtel des Patients Service d'endocrinologie, diabétologie et métabolisme - CHUV
Service d'Endocrinologie, diabétologie et métabolisme

ALEMANHA

Berlin
BERLIN

Identification of molecular mechanisms acting at the jObes1 locus in the Berlin Fat Mouse with effect on juvenile fat deposition
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik

ALEMANHA

Sachsen
DRESDEN

Novel therapeutic approaches for congenital adrenal hyperplasia (A04- TRR 205: The Adrenal: Central Relay in Health and Disease)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

Loss of MMP12 in LAL-D and cardiometabolic disease
Institution: Information not provided - AT

CANADA

Alberta
EDMONTON

Financiado por um membro do IRDiRCAutonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism

CANADA

Alberta
EDMONTON

Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism

ESPANHA

Andalucía
SEVILLA

Financiado por um membro do IRDiRCBiomedical research and clinical innovation in hereditary retinal dystrophies: towards personalized medicine in rare diseases
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción

ESPANHA

Cataluña
SABADELL

Financiado por um membro do IRDiRCEffect of growth hormone treatment on brain connectivity and the structure of areas related to muscle tone in adults with Prader-Willi syndrome
Corporación Sanitaria Parc Taulí. Hospital de Sabadell
Servicio de endocrinología y nutrición

ESTADOS UNIDOS

Washington
ADDRESS: 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

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 IRDiRCGenetic epidemiology of complex diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCilium-associated structures in rod cells
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFunction of c8orf37 in photoreceptors
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of retinal degeneration in inherited diseases
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

Financiado por um membro do IRDiRCMechanisms of fmrp mediated translational repression
Institution: Information 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 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

Financiado por um membro do IRDiRCEpigenetic therapy and prader-willi syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCIodine status and congenital hypothyroidism in the usa
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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular genetics of adrenocortical tumors and related disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular genetics of endocrine tumors and related disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPhysiology; psychology; and genetics of obesity
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

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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThe physiology of adrenal insufficiency
Institution: Information not provided - US

FINLANDIA

Finland
TURKU

Financiado por um membro do IRDiRCGenetics of congenital hypothyroidism in Finland
University of Turku
Institute of Biomedicine

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCTargeting the vitamin D receptor for the treatment of rare diseases induced by calcitriosis
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Génomique fonctionnelle et cancer

FRANCA

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

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCMGonDev: Understanding the Mechanisms of Human Gonadal Development - FR
Institut Pasteur
Génétique du Développement Humain - CNRS UMR3738

FRANCA

ILE-DE-FRANCE
PARIS

FRANCA

NORMANDIE
CAEN

Genetic lesions of the GS alpha protein (GNAS1) in Albright osteodystrophy and pseudohypoparathyroïdism type 1A and 1B
Faculté de médecine de Caen
Mobilités : Attention, Orientation et Chronobiologie (COMETE)

FRANCA

NORMANDIE
ROUEN

FRANCA

NOUVELLE AQUITAINE
PESSAC

Adrenal deficiency : clinical study
CHU de Bordeaux-GH Sud - Hôpital Haut-Lévêque
Unité d'Endocrinologie et oncologie endocrinienne

FRANCA

OCCITANIE
MONTPELLIER

FRANCA

OCCITANIE
TOULOUSE

Resistance to thyroid hormones: molecular analysis of c-erbAbeta1 cofactors (SMRT, NCoR, SRC-1, MCT8)
CHU de Toulouse - Hôpital Rangueil
Institut des Maladies Métaboliques et Cardiovasculaires

FRANCA

OCCITANIE
TOULOUSE

Structure-function relationship of the TSH receptor and of the related receptors
CHU de Toulouse - Hôpital Rangueil
Institut des Maladies Métaboliques et Cardiovasculaires

FRANCA

PAYS DE LA LOIRE
ANGERS

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

FRIULI VENEZIA GIULIA
TRIESTE

miRNA in Prader-Willi syndrome
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato

ITALIA

LAZIO
FIUMICINO

Prader-Willi syndrome: genetic, metabolic and endocrine functional neuroanatomy
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia

ITALIA

LAZIO
ROMA

Financiado por um membro do 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

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

LAZIO
ROMA

Financiado por um membro do IRDiRCImproving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LOMBARDIA
CUSANO MILANINO

ITALIA

PUGLIA
SAN GIOVANNI ROTONDO

Molecular characterisation of HRPT2 gene in subjects affected by familial primary hyperparathyroidism from parathyroid carcinoma
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica

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

PAISES BAIXOS

Noord-Holland
AMSTERDAM

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

REINO UNIDO

Greater London
LONDON

REINO UNIDO

Greater London
LONDON

REINO UNIDO

Greater London
LONDON

Financiado por um membro do IRDiRCWhat dose of vitamin D is required to achieve target serum 25-hydroxyvitamin D levels in children?
Kings College School of Medicine
Guy's and St Thomas NHS Foundation Trust

SUECIA

Region Stockholm
HUDDINGE

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

SUECIA

Region Stockholm
STOCKHOLM

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SUECIA

Region Västra Götaland
GÖTEBORG

Novel mechanisms of impaired thyroid development and function implicated in congenital hypothyroidism
Göteborg University
Department of Medical Biochemistry and Cell Biology

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

Berlin
BERLIN

Financiado por um membro do IRDiRCCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

ALEMANHA

Schleswig-Holstein
KIEL

Identification of highly selective co-regulators of the androgen receptor based on a functional in vitro model of androgen insensitivity
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Hormonzentrum für Kinder und Jugendliche - Campus Kiel

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

ESPANHA

Asturias
OVIEDO

ESPANHA

Cataluña
BARCELONA

Genotyping and proteomic, metabolomic and functional phenotyping in Kearns-Sayre syndrome for the identification of new biomarkers and options
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Laboratorio de investigación muscular y función mitocondrial

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

Cataluña
REUS

Early detection of familial hypercholesterolemia in children in Tarragona province
Hospital Universitari de Sant Joan de Reus
Servicio de Medicina Interna

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCDeciphering the genetic complexity of congenital hypopituitarism
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular

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 IRDiRCHormonal and molecular etiology of skeletal abnormalities in xlh
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBrain and related studies in sids infants
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNatural history study of patients with excess androgen
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTherapeutic approaches in cell models of mitochondrial diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCOpposing pathways in mammalian sex determination
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDIA

Finland
HELSINKI

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
MONTROUGE

Financiado por um membro do IRDiRCX-linked hypophosphatemia: from pathological mechanisms of mineralization to treatments for skeletal manifestations
Université Paris Descartes - UFR Odontologie
Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCAnalysis of ARX mutations in patients with neurodevelopmental diseases (NDDs)
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty

ITALIA

PUGLIA
SAN GIOVANNI ROTONDO

Medullary carcinoma screening and study of genotype in familial cases
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
U.O.S. di Endocrinologia

ALEMANHA

Berlin
BERLIN

CLC Cl- channels and transporters in basic cellular processes and pathological states
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport

ALEMANHA

Niedersachsen
GÖTTINGEN

ALEMANHA

Rheinland-Pfalz
MAINZ

TIC-PEA: Telemedical Interdisciplinary Care for Patients with Esophageal Atresia
Universitätsmedizin Mainz
Klinik und Poliklinik für Kinderchirurgie

CANADA

Québec
MONTRÉAL

Abnormal Thyroid Development: a Model Disorder for Congenital Malformations and Neurocognitive Development
Centre hospitalier universitaire Sainte-Justine
CHU Ste-Justine-Centre de recherche - Service d'Endocrinologie

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

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 IRDiRCGenetics of brain development
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThe regulation of pubertal onset and reproductive development
Institution: Information not provided - US

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

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 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 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

Projetos de investigação multicêntricos