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Funded by an IRDiRC member =

Research projects

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

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberGene therapy for Wolfram Syndrome
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Monogenic diabetes (neonatal, syndromic, atypical or non-atypical) : identification of responsible genes
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberRole on Nonmuscle Myosin II in membrane trafficking and organ function
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

GRAND-EST
STRASBOURG

Bernard-Soulier Syndrome and MYH9 associated diseases: study of blood platelets anomalies and of the thrombopoïesis, correction by genetic therapy
Établissement Français du Sang - Grand Est
UR U311 - Biologie et pharmacologie de l'hémostase et de la thrombose

FRANCE

ILE-DE-FRANCE
PARIS

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

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

ILE-DE-FRANCE
PARIS

Monogenic diabetes (neonatal, syndromic, atypical or non-atypical) : identification of responsible genes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"

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

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

Mecklenburg-Vorpommern
GREIFSWALD

Mutational spectra and clinical manifestation in patients with congenital haemophilia
Institut für Humangenetik der Universitätsmedizin Greifswald
Institut für Humangenetik

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

GERMANY

Sachsen
DRESDEN

EXOSC2 zebrafish model and exosom : analysis of EXOSC2 in the development of HK syndrome
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

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
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

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

SWEDEN

Stockholms läns landsting
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 KINGDOM

West Midlands
BIRMINGHAM

UNITED STATES

South Dakota
SIOUX FALLS

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 memberIdentification of small molecule er modulators for wolfram syndrome
Institution: Information 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

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 memberTherapeutic approaches in cell models of mitochondrial diseases
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

UNITED STATES

South Carolina
COLUMBIA

Rate of Progression in USH2A Related Retinal Degeneration
Foundation Fighting Blindness
Foundation Fighting Blindness USA

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