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

Research projects

IRELAND

County Dublin
DUBLIN

ITALY

LAZIO
ROMA

ITASPA: clinical and genetic analysis of spastic paraplegias
Fondazione EBRI
Istituto di Neurobiologia e Medicina Molecolare

PORTUGAL

NORTE
PORTO

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Centro de Genética Preditiva e Preventiva

PORTUGAL

NORTE
PORTO

Clinical implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
PORTO

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
SANTA MARIA DA FEIRA

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberClinical studies, genetic bases and prognostic biomarkers in rare neurodegenerative diseases
Centro de Investigación Príncipe Felipe (CIPF)
Unidad de Genética y Genómica de Enfermedades Neuromusculares y Neurodegenerativas

UNITED KINGDOM

Greater London
LONDON

Endogenous Cerebellar Human Stem Cells and their Potential Neuroregenerative Role in Inherited Ataxias
Barts and The London School of Medicine and Dentistry
Centre for Neuroscience and Trauma

UNITED KINGDOM

Lothian
EDINBURGH

Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
PMARC - The University of Edinburgh
Perception-Movement-Action Research Consortium

UNITED KINGDOM

Lothian
EDINBURGH

Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
School of Informatics, The University of Edinburgh
Human Communication Research Centre

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe

GERMANY

Bayern
WÜRZBURG

Funded by an IRDiRC memberADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Funded by an IRDiRC memberADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie

UNITED STATES

Arizona
PHOENIX

Funded by an IRDiRC memberThe etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute

CANADA

Québec
QUÉBEC

Development of a treatment for Friedreich ataxia based on the administration of a TALE driving the expression of frataxin.
CHUQ - (CHUL) Centre hospitalier de l'Université Laval
Laboratoire de Génétique Humaine

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

ILE-DE-FRANCE
PARIS

Multidisciplinary Observational Study of Patients With Friedreich Ataxia
CHU Paris - Hôpital Robert Debré
Neurologie pédiatrique et maladies métaboliques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Synthetic biology and Friedreich's Ataxia
CNRS Campus Joseph Aiguier
Laboratoire de Chimie Bactérienne (LCB) - UMR 7283

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberFRACOL: Synthetic biology to approach Friedreich ataxia - FR
CNRS Campus Joseph Aiguier
Laboratoire de Chimie Bactérienne (LCB) - UMR 7283

GERMANY

Hessen
FRANKFURT AM MAIN

ITALY

LAZIO
ROMA

ITALY

LAZIO
ROMA

Molecular determinants of neurodegenerative diseases
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberExcitatory/Inhibitory unbalance in Ataxia telangiectasia and perspective therapeutical interventions
Università degli Studi di Milano-Biotecnologie Mediche e Medicina Traslazionale
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale - Laboratorio Interdisciplinare di Tecnologie Avanzate (LITA)

SPAIN

Comunidad Valenciana
VALENCIA

Genomic edition of the FXN Gene through the CRISPR / Cas9 system in lymphocytes of patients with Friedreich's ataxia
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

SPAIN

Comunidad Valenciana
VALENCIA

Validation of circulating microRNAs as prognostic biomarkers and clinical evolution in Friedreich ataxia. Towards precision medicine in Rare Diseases
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberNew Therapies in Friedreich Ataxia
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

SPAIN

Madrid
MADRID

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Hematopoietic Stem Cell Gene Therapy for treatment of Ataxia telangiectasia (A-T)
Institute for Regenerative Medicine
Department Gene and Cell Therapy

UNITED STATES

South Dakota
SOUTH DAKOTA

Funded by an IRDiRC memberAberrant mitochondrial redox regulation in Friedreich's Ataxia
Sanford Research/University of South Dakota
VITIELLO LAB- Depatment of Pediatrics

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMammalian iron-sulfur cluster biogenesis
Institution: Information not provided - US

CANADA

Ontario
TORONTO

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

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

LOMBARDIA
MILANO

Joubert syndrome and other genetic cerebellar malformations. In vivo analysis in animal models
IRCCS Ospedale San Raffaele
U.O. di Genetica dello Sviluppo Neurale

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

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberZfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic architecture and molecular pathogenesis of joubert syndrome
Institution: Information not provided - US

SPAIN

Cataluña
SABADELL

Multicentric Research projects