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32 Result(s)
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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
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
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
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
GERMANY
Baden-Württemberg
FREIBURG
A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
ITALY
EMILIA ROMAGNA
PARMA
Pre-clinical identification of drugs targeting POLG disorders by using a Zebrafish/Yeast trans-species approach (ZIPPY)
Università degli Studi di Parma
Dipartimento di Scienze Chimiche, della Vita e della Sostenibilità Ambientale
ITALY
VENETO
PADOVA
Pre-clinical identification of drugs targeting POLG disorders by using a Zebrafish/Yeast trans-species approach (ZIPPY)
Università degli Studi di Padova - DiBio
Dipartimento di Biologia
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
BARCELONA
Preclinical efficacy studies to expand the use of deoxyribonucleosides as a treatment for mitochondrial DNA depletion and multiple deletions syndromes (MDDS). Extension to unexplored genetic causes
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca
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
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
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 STATES
Washington
ADDRESS: NOT PROVIDED - US
Project #3 - pharmacological and gene therapy of tk2 deficiency in mice and human
Institution: Information not provided - US
ITALY
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALY
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
Laboratorio di biochimica metabolica
SPAIN
Cataluña
BELLATERRA
Biochemical and neurodevelopmental alterations in Lesch-Nyhan disease
Universitat Autònoma de Barcelona. Institut de Neurociències
Grupo de Neurofarmacología Molecular y Bioinformática
SPAIN
Madrid
MADRID
Biochemical and neurodevelopmental alterations in Lesch-Nyhan disease
IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Unidad para el Estudio de los Errores Innatos del Metabolismo de las Purinas
Multicentric Research projects
- Oxford University Begbroke Science Park
- Zyoxel Limited
UNITED KINGDOM
Oxfordshire
BEGBROKE