Search for a research project
Other search option(s)
51 Result(s)
Terminated research projects = 
Funded by an IRDiRC member = 
Member of a ERN = 
Research projects
CANADA
Ontario
OTTAWA
Emerging 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
Emerging 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
Porphyrias: biochemical and genetical quality controls. Unusual signs and symptoms: hair shaft alteration.
IRCCS Istituto Dermatologico San Gallicano
S.S. Dipartimentale - Centro Porfirie e Malattie Rare
ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALY
LOMBARDIA
MILANO
Genetic study for the diagnosis and treatment of patients with Porphyria
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Laboratorio Divisionale - U.O.C. Medicina Generale
NORWAY
Vestlandet
BERGEN
Forbedring av metoder til diagnostikk og monitorering av porfyrisykdommer
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer
SWEDEN
Region Stockholm
SOLNA
Inborn errors of endocrinology and metabolism
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
SWITZERLAND
Suisse Alémanique
ZÜRICH
Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
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 KINGDOM
Avon
BRISTOL
MetBioNet - National Metabolic Biochemistry Network.
Southmead Hospital
North Bristol NHS Trust
UNITED KINGDOM
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network.
The Sheffield Children's Hospital
Department of Clinical Chemistry
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
SCENESSE® PASS-001: A Post-Authorisation Disease Registry Safety Study to Generate Data on the Long-Term Safety and Clinical Effectiveness of SCENESSE® (Afamelanotide 16mg) in Patients with Erythropoietic Protoporphyria (EPP) - AT
Institution: Information not provided - AT
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
SCENESSE® (Afamelanotide 16mg) Retrospective Chart Review - AT
Institution: Information not provided - AT
AUSTRIA
WIEN
WIEN
CureCN: Adeno-Associated Virus Vector-Mediated Liver Gene Therapy for Crigler-Najjar Syndrome - AT
MC Toxicology Consulting GmbH
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
ILE-DE-FRANCE
CORBEIL-ESSONNES
GMP production for rare diseases
YposKesi (AFM-Telethon-Genethon)
FRANCE
ILE-DE-FRANCE
EVRY
CureCN: Adeno-Associated Virus Vector-Mediated Liver Gene Therapy for Crigler-Najjar Syndrome - FR
Généthon
Centre de Recherche Généthon
FRANCE
NOUVELLE AQUITAINE
BORDEAUX
Safety of CRISPR-Cas9 nuclease use
Université de Bordeaux ISPED
Centre de recherche INSERM U1219
GERMANY
Niedersachsen
HANNOVER
CureCN: Adeno-Associated Virus Vector-Mediated Liver Gene Therapy for Crigler-Najjar Syndrome - DE
Medizinische Hochschule Hannover
Medizinische Hochschule Hannover (MHH)
ITALY
CAMPANIA
NAPOLI
CureCN: Adeno-Associated Virus Vector-Mediated Liver Gene Therapy for Crigler-Najjar Syndrome - IT
Azienda Ospedaliera Universitaria "Federico II"
AOU Federico II
ITALY
FRIULI VENEZIA GIULIA
TRIESTE
Genetic determinants of bilirubin Encephalopathy
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato
ITALY
LAZIO
ROMA
Innovative technology for Phototherapy in Crigler-Najjar Syndrome
ISS - Istituto Superiore di Sanità
Centro nazionale per le tecnologie innovative in sanità pubblica
NETHERLANDS
Noord-Holland
AMSTERDAM
CureCN: Adeno-Associated Virus Vector-Mediated Liver Gene Therapy for Crigler-Najjar Syndrome - NL
UVA - Universiteit van Amsterdam
Universiteit van Amsterdam
NORWAY
Vestlandet
BERGEN
En studie av det naturlige forløpet av akutt hepatisk porfyri (AHP) hos pasienter med gjentatte anfall
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer
SPAIN
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
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
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
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
Madrid
MADRID
Identification 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 KINGDOM
Leicestershire
LEICESTER
CureCN: Adeno-Associated Virus Vector-Mediated Liver Gene Therapy for Crigler-Najjar Syndrome - GB
Leicester Univ. Hosp. NHS - Leicester Royal Infirmary
University Hospitals of Leicester NHS Trust Headquarters
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Development of a novel treatment for hyperbilirubinemia-induced kernicterus
Institution: Information not provided - US
FRANCE
ILE-DE-FRANCE
PARIS
Roscovitine analogues as targeted pharmacotherapies for rare cholestatic liver diseases
AP-HP.Sorbonne Université - Hôpital Saint-Antoine
CRSA - Centre de Recherche Saint-Antoine UMR_S 938
NORWAY
Vestlandet
BERGEN
A corrective therapy for acute intermittent porphyria
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer
NORWAY
Vestlandet
BERGEN
The European Porphyria Registry: Natural history and treatment practices for acute intermittent porphyria patients in Europe
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer
NORWAY
Vestlandet
BERGEN
Helserelatert livskvalitet ved porphyria cutanea tarda (PCT)
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer
NORWAY
Vestlandet
BERGEN
One-carbon metabolism in patients with acute intermittent porphyria
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer
NORWAY
Vestlandet
BERGEN
Malignancies and mortality in patients with porphyria - a comparison with the general Norwegian population
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer
NORWAY
Vestlandet
BERGEN
A corrective therapy for acute intermittent porphyria
University of Bergen
Department of Biomedicine
SPAIN
Navarra
PAMPLONA
Evaluation of innovative RNA treatments on heme, glycolipid and homocysteine pathways in patients with acute intermittent porphyria and murine and non-human primate models
IdiSNA - Instituto de Investigación Sanitaria de Navarra
Instituto de Investigación Sanitaria de Navarra
Multicentric Research projects
- Oxford University Begbroke Science Park
- Zyoxel Limited
- Généthon
- Centre de Recherche Généthon
- GHU Paris-Sud - Hôpital Paul Brousse
- Les cellules souches: de leurs niches à leurs applications thérapeutiques
- CHU de Nantes - Hôtel Dieu
- Biothérapies hépatiques
- CIMA - Centro de Investigación Médica Aplicada
- Centro de Investigación Médica Aplicada
UNITED KINGDOM
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
FRANCE
ILE-DE-FRANCE
EVRY
CureCN: Adeno-Associated Virus Vector-Mediated Liver Gene Therapy for Crigler-Najjar Syndrome
FRANCE
ILE-DE-FRANCE
VILLEJUIF
InnovaLiv: Innovative strategies to generate human hepatocytes for treatment of metabolic Liver diseases: Tools for personalized cell therapy
FRANCE
PAYS DE LA LOIRE
NANTES
European network for metabolic inherited diseases (FINISHED)
SPAIN
Navarra
PAMPLONA