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

Research projects

UNITED KINGDOM

Merseyside
LIVERPOOL

Funded by an IRDiRC memberAirway Intervention Registry (AIR) extension - Recurrent Respiratory Papillomatosis
Alder Hey Children's Hospital
Department of Plastic Surgery

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Funded by an IRDiRC memberAirway Intervention Register (AIR) - Recurrent respiratory papillomatosis
Freeman Hospital, The newcastle upon Tyne Hospitals NHS Foundation Trust
The Newcastle upon Tyne Hospitals NHS Foundation Trust

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

CANADA

Alberta
EDMONTON

Identification and characterization of Merlin interacting proteins
University of Alberta
Department of Medical Genetics

CANADA

Québec
MONTRÉAL

The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2
Montreal Children's Hospital Research Institute - McGill University
Department of Pediatrics / Département de pédiatrie

FINLAND

Finland
JYVÄSKYLÄ

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Research for one gene involved in Goldenhar syndrome
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

GERMANY

Berlin
BERLIN

CLC Cl- channels and transporters in basic cellular processes and pathological states
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport

GERMANY

Niedersachsen
GÖTTINGEN

GERMANY

Niedersachsen
GÖTTINGEN

European Alport therapy registry
Universitätsmedizin Göttingen
Klinik für Nephrologie und Rheumatologie

GERMANY

Rheinland-Pfalz
MAINZ

Characterization of the retinal phenotype and pre-clinical evaluation of AAV mediated gene augmentation in the transgenic USH1C pig
Institut für Zoologie der Universität Mainz
Institut für Zoologie - Abt. I - AG Wolfrum

GERMANY

Rheinland-Pfalz
MAINZ

VLGR1 signaling at focal adhesions and ICD release as a non-canonical signaling pathway of aGPCRs
Institut für Zoologie der Universität Mainz
Institut für Zoologie - Abt. I - AG Wolfrum

GERMANY

Saarland
HOMBURG

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

ITALY

LAZIO
ROMA

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALY

LIGURIA
GENOVA

JAPAN

JAPAN
KYOTO

Funded by an IRDiRC memberEvidence generation study for the development of guidelines for pharyngeal, laryngeal, tracheal stenosis
Kyoto University Graduate School of Medicine
Department of Otolaryngology

NETHERLANDS

Gelderland
NIJMEGEN

TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

PORTUGAL

NORTE
PORTO

Alport Syndrome: Clinical and molecular study of Portuguese families
Faculdade de Medicina da Universidade do Porto
Unidade de Investigação e Desenvolvimento de Nefrologia

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberBiomedical research and clinical innovation in hereditary retinal dystrophies: towards personalized medicine in rare diseases
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción

SPAIN

Baleares
PALMA DE MALLORCA

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberCellular ageing associated with early exposure to stressful events in 22q11.2 deletion syndrome
Hospital General Universitario Gregorio Marañón
Servicio de Psiquiatría del Niño y del Adolescente

SWEDEN

Region Stockholm
STOCKHOLM

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

UNITED KINGDOM

West Midlands
BIRMINGHAM

EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberWnt signaling-mediated control of blood-retinal barrier
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDisease mechanism and therapies for retinal degeneration
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRetinal aging and inherited neurodegenerative diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberFolding; misfolding; and function of pmp22
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenes for non-syndromic congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic modifiers of congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProtein trafficking in the endosomal-lysosomal system
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberReciprocal signaling in synaptogenesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPathogenic mechanisms and therapuetic strategies in melas
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies: approaches to treatment
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberModeling the Usher Syndrome type I (USH1) retinopathy in pig: physiopathology and gene therapy
Institut Pasteur
Génétique et Physiologie de l'audition - Inserm U1120 Paris 6

GERMANY

Baden-Württemberg
TÜBINGEN

Rate of Progression in USH2A Related Retinal Degeneration
Department für Augenheilkunde Tübingen
Universitäts-Augenklinik

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberPrediction models in autosomal dominant hereditary nephropathies
Fundació Puigvert
Servicio de Nefrología

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNatural history and genetic studies of usher syndrome
Institution: Information not provided - US

Multicentric Research projects