Orphanet: Search by disease/gene
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Funded by an IRDiRC member = Member of a ERN =

Research projects

ITALY

VENETO
ZELARINO

Funded by an IRDiRC memberTowards 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

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ITALY

VENETO
ZELARINO

Funded by an IRDiRC memberAdvanced therapy medicinal products for the treatment of ocular defects in Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie

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CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

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SPAIN

Madrid
MADRID

Funded by an IRDiRC memberEvaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia

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CANADA

Ontario
TORONTO

Funded by an IRDiRC memberBeyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

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FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

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FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

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GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

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JAPAN

JAPAN
AICHI

Funded by an IRDiRC memberManagement ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

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JAPAN

JAPAN
AICHI

Funded by an IRDiRC memberEstablishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

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JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

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SPAIN

Madrid
MADRID

Funded by an IRDiRC memberBioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica

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UNITED KINGDOM

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

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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

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Multicentric Research projects