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Funded by an IRDiRC member =

Research projects

AUSTRIA

WIEN
WIEN

Correcting nucleotide excision repair-associated diseases
AKH BT 25.3
Ce-M-M- Research Center for Molecular Medicine of the Austrian Academy of Sciences

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES

EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models
Université Catholique de Louvain - UCL
European network for the study of orphan nephropathies

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberDeciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute

CYPRUS

Cyprus
NICOSIA

Epidemiology and genetics of ciliated disorders
The Cyprus Institute of Neurology and Genetics
Electron Microscopy and Molecular Pathology Department

FRANCE

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberRNPgenesis: Structure and function of ribonucleoprotein complexes assembly factors involved in human pathologies
Faculté de médecine Paris-Descartes, Site Necker
Laboratoire de Cristallographie & RMN biologiques

GERMANY

Baden-Württemberg
FREIBURG

GERMANY

Baden-Württemberg
FREIBURG

EWOG-MDS-RC-06: TCR Vbeta repertoire and PNH clones in children with Refractory Cytopenia (RC). An open nonrandomised multicenter prospective study
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANY

Bayern
ERLANGEN

Cartilage-Hair Anauxetic dysplasia spectrum: functional studies and genotype-phenotype correlations
Humangenetisches Institut am Universitätsklinikum Erlangen
Humangenetisches Institut

ITALY

CAMPANIA
NAPOLI

ITALY

CAMPANIA
NAPOLI

Unravelling the molecular mechanisms of impaired nemo function in ip pathogenesis
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso"

ITALY

CAMPANIA
NAPOLI

Molecular basis of oral-facial-digital type 1 syndrome
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALY

CAMPANIA
NAPOLI

EUCILIA: thorough analysis of animal models with mutant BBS, OFD1, or NPHP protein (WP1)
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALY

CAMPANIA
NAPOLI

ITALY

LAZIO
ROMA

Function of p63 in normal skin and in ectodermal dysplasia syndromes
A.O.U. Policlinico di Tor Vergata - Facoltà di Medicina e Chirurgia
Laboratorio di Trasduzione del Segnale

ITALY

LAZIO
ROMA

Study of inherited skin disorders: molecular pathogenesis, diagnosis and genotype-phenotype correlation
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O.C. di Dermatologia

ITALY

LAZIO
ROMA

ITALY

LAZIO
ROMA

Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALY

LAZIO
ROMA

NETHERLANDS

Gelderland
NIJMEGEN

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

SPAIN

Murcia
EL PALMAR, MURCIA

Funded by an IRDiRC memberModeling the impact of telomerase in dyskeratosis congenita: New therapeutic targets and treatments
Hospital Clínico Universitario Virgen de la Arrixaca
Departamento de Cirugía Experimental

SPAIN

Murcia
EL PALMAR, MURCIA

Funded by an IRDiRC memberPhenotypic and genotypic characterization of hypohidrotic ectodermal dysplasia in Spanish population
Hospital Clínico Universitario Virgen de la Arrixaca
Sección de Genética Médica - Servicio de Pediatría

SPAIN

Murcia
MURCIA

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

UNITED KINGDOM

Greater Manchester
MANCHESTER

FINLAND

Finland
HELSINKI

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberPRIMA-TALEN VISION: Validation of PRIMA-1MET and TALEN as a therapeutic tools for visual deficient EEC syndrome
Fondation ophtalmologique Adolphe de Rothschild
Département d'ophtalmologie

GERMANY

Bayern
ERLANGEN

ECP-002e: Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 - DE
Kinder- und Jugendklinik des Universitätsklinikums Erlangen
Abteilung für Molekulare Pädiatrie

ITALY

LAZIO
ROMA

GENESKIN: European network on rare genetic skin diseases (coordination)
Istituto Dermopatico dell'Immacolata - IRCCS
Laboratorio di Biologia Molecolare e Cellulare

ITALY

VENETO
ZELARINO

Towrds an innovative therapy of ectrodactyly ectodermal dysplasia clefting syndrome using allele specific RNA silencing
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

Multicentric Research projects