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Funded by an IRDiRC member =

Research projects

FINLAND

Finland
HELSINKI

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberAnalysis of the role of PITX2, the gene mutated in Rieger syndrome, in ventricular morphogenesis: implications for adult heart function
CNR - Istituto di Neuroscienze
Dipartimento di Istologia Microbiologia e Biotecnologie Mediche

UNITED STATES

California
BERKELEY

UNITED STATES

California
BERKELEY

Funded by an IRDiRC memberZebrafish model of human corneal development and disease
University Of California Berkeley
Ophthalmology

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

ILE-DE-FRANCE
VILLEJUIF

Funded by an IRDiRC memberTransition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases
CLCC Institut Gustave Roussy
Equipe Epidémiologie des radiations, épidémiologie clinique des cancers et survie

BELGIUM

OOST-VLAANDEREN
GENT

Study of candidate genes for anterior segment dysgenesis.
Ghent University Hospital - UZ Gent
Department of Ophthalmology

GERMANY

Rheinland-Pfalz
MAINZ

Risk factors for congenital anorectal malformations
Universitätsmedizin Mainz
CURE-Net Register

GERMANY

Saarland
HOMBURG

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberPrimary Prevention and Surveillance of Congenital Anomalies
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SPAIN

Madrid
MADRID

Genetic characterization of aniridia in Spain through genomic and experimental studies
Fundación Jiménez Díaz
Área de Genética y Genómica

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe physiology of adrenal insufficiency
Institution: Information not provided - US

GERMANY

Baden-Württemberg
TÜBINGEN

Genetics and pathophysiology of glaucoma
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberThe role of non-coding RNAs in mammalian eye development and function
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

SWITZERLAND

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

UNITED KINGDOM

Cambridgeshire
HINXTON

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

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

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

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

SPAIN

Madrid
MADRID

Multicentric Research projects