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Terminated research projects = Funded by an IRDiRC member = Member of a ERN =

Research projects

FRANCE

HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ

Funded by an IRDiRC memberEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation - FR
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 3)
Dietmar-Hopp-Stoffwechselzentrum
Klinik Kinderheilkunde I - Dietmar-Hopp-Stoffwechselzentrum

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 4)
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik

GERMANY

Nordrhein-Westfalen
MÜNSTER

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

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SWEDEN

Region Stockholm
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)

SWITZERLAND

Suisse Romande
LAUSANNE

Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberNovel therapeutic approaches to target GNE Myopathy
Children's Hospital of Eastern Ontario
Division of Neurology

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberA study of the NMJ in GFPT1-deficient zebrafish
University of Ottawa
Faculty of Medicine -

CANADA

Ontario
TORONTO

GERMANY

Nordrhein-Westfalen
MÜNSTER

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

GERMANY

Sachsen-Anhalt
HALLE (SAALE)

Funded by an IRDiRC memberProDGNE: Novel therapeutic approaches to target GNE Myopathy -DE
Institut für Physiologische Chemie der Medizinische Fakultät
Institut für Physiologische Chemie

ISRAEL

ISRAEL
ADDRESS: NOT PROVIDED - IL

Funded by an IRDiRC memberZebrafish as a model system for GNE Myopathy
Institution: Information not provided - IL

ISRAEL

ISRAEL
JERUSALEM

Funded by an IRDiRC memberCellular Models to explore GNE functions in muscle
The Hebrew University of Jerusalem
Faculty of Medicine

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberRegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

SARDEGNA
CAGLIARI

Funded by an IRDiRC memberProDGNE: Novel therapeutic approaches to target GNE Myopathy - IT
Università degli Studi di Cagliari
Dipartimento di Scienze della Vita e dell'Ambiente

SPAIN

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

SPAIN

Cataluña
BARCELONA

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

SPAIN

Comunidad Valenciana
VALENCIA

Characterization of macromolecular targets as a key to understanding, diagnosis and design of therapies in rare diseases
Instituto de Biomedicina de Valencia (CSIC)
Unidad de Enzimopatología Estructural

SPAIN

Madrid
CANTOBLANCO

Funded by an IRDiRC memberCross-omic approach for discovery of disease-causes in inborn error of metabolism and for personalized therapeutical intervention
Universidad Autónoma de Madrid. Facultad de Ciencias
Centro de Diagnóstico de Enfermedades Moleculares

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCell biology of metabolic disorders
Institution: Information not provided - US

GERMANY

Rheinland-Pfalz
COLOGNE

Funded by an IRDiRC memberBiomarker discovery and validation for LGMD2I/FKRP-related muscular dystrophy
University of Cologne
Center for Molecular Medicine Cologne

ITALY

EMILIA ROMAGNA
BOLOGNA

Mutations analysis of EXT genes and expression profiling in italian families with hereditary multiple exostoses (EXT) and related pathologies and syndromes
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

NORWAY

Nord-Norge
TROMSØ

Pathophysiological mechanisms with Limb Girdle muscular dystrophy Type 21
UNN - Universitetssykehuset Nord-Norge
NMK - Nevromuskulært kompetansesenter

NORWAY

Nord-Norge
TROMSØ

Limb-Girdle Muscular Dystrophy in Norway, a cohort study
UNN - Universitetssykehuset Nord-Norge
NMK - Nevromuskulært kompetansesenter

NORWAY

Østlandet
NESODDTANGEN

PORTUGAL

CENTRO
ADDRESS: NOT PROVIDED - PT

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberThe involvement of muscle stem cells in the pathology of muscular dystrophy due to POGLUT1 mutations
IBIS - Instituto de Biomedicina de Sevilla
Grupo de enfermedades neuromusculares

SPAIN

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe role of dystroglycan in neural circuit development.
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects