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Funded by an IRDiRC member =

Research projects

FRANCE

ILE-DE-FRANCE
COLOMBES

EPI: European Porphyria Initiative (coordination)
CHU Paris Nord-Val de Seine - Hôpital Louis Mourier
Service de biochimie métabolisme et nutrition

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

LOMBARDIA
MILANO

Genetic study for the diagnosis and treatment of patients with Porphyria
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Ambulatorio e Laboratorio Divisionale

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

FRANCE

NORD-PAS-DE-CALAIS
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALY

LAZIO
ROMA

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

ITALY

LIGURIA
GENOVA

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberIdentification of penetrance modifier genes in rare hereditary diseases through massive sequencing
Centro de Diagnóstico Biomédico - CDB
Sección de Genética Molecular

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberIdentification of penetrance modifier genes in rare hereditary diseases through massive sequencing
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en oncología y hematología: genética

SPAIN

Murcia
EL PALMAR, MURCIA

Acute intermittent porphyria: phenotype, quality of life and genetic variants associated with the penetrance
Hospital Clínico Universitario Virgen de la Arrixaca
Sección de Genética Médica - Servicio de Pediatría

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

UNITED KINGDOM

Oxfordshire
BEGBROKE

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