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

Research projects

AUSTRIA

WIEN
WIEN

Endothelial senescence in progeria
Medizinische Universität Wien
Institut für Medizinische Chemie und Pathobiochemie

AUSTRIA

WIEN
WIEN

Molecular mechanisms of plectin-related muscular dystrophy
Medizinische Universität Wien
Zentrum für Anatomie und Zellbiologie

CANADA

Québec
QUÉBEC

Gene therapy for recessive dystrophic epidermolysis bullosa
Centre de recherche - Hôtel-Dieu de Québec
Centre de recherche du CHU de Québec/Université Laval

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

GRAND-EST
STRASBOURG CEDEX

Funded by an IRDiRC memberRare Invisible Disease and Schooling of Children
ESPE de Strasbourg
Equipe Apprentissages, pratiques d'enseignement et d'éducation

FRANCE

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberMuTaEB : Mutation-targeted gene and pharmacological therapies for dystrophic and junctional Epidermolysis Bullosa (partner no 1)
Universitäts-Klinik für Dermatologie und Venerologie
Epidermolysis bullosa-Zentrum

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

Baden-Württemberg
ULM

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberTREAT-HGPS: Exploring new therapeutic strategies in Hutchinson-Gilford progeria syndrome preclinical models (partner no 4)
Klinik und Poliklinik für Dermatologie und Allergologie am Biederstein
Klinik und Poliklinik für Dermatologie und Allergologie der TU München

GERMANY

Bayern
WÜRZBURG

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

GERMANY

Hamburg
HAMBURG

Molecular and functional investigation on microphthalmia with linear skin defects (MLS) - syndrome
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

GERMANY

Hamburg
HAMBURG

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

GERMANY

Hessen
FRANKFURT AM MAIN

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

GERMANY

Nordrhein-Westfalen
BAD OEYNHAUSEN

Molekular diagnosis and pathomechanism in pseudoxanthoma elasticum
Ruhr-Universität Bochum
Institut für Laboratoriums- und Transfusionsmedizin

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

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

GERMANY

Nordrhein-Westfalen
ESSEN

Evaluation of Video-assisted Instructions of Nasal Self-packing in Patients With HHT
Universitätsklinikum Essen
Klinik für Hals-Nasen und Ohrenheilkunde

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

ITALY

EMILIA ROMAGNA
MODENA

Pseudoxanthoma elasticum: from the understanding of pathogenetic mechanisms towards therapeutic perspectives
Università degli Studi di Modena e Reggio Emilia
LabGen - Laboratorio Sequenziamento Genomico

ITALY

LAZIO
ROMA

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberA novel approach to the understanding and treatment of Hutchinson-Gilford Progeria Syndrome
Istituto FIRC di Oncologia Molecolare
Dipartimento di Oncologia 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)

JAPAN

JAPAN
HOKKAIDO

Funded by an IRDiRC memberA strategy to optimize treatment options for epidermolysis bullosa
Hokkaido University Hospital
Department of Dermatology

JAPAN

JAPAN
MIYAGI

Funded by an IRDiRC memberPathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

SPAIN

Castilla - León
SALAMANCA

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

SWEDEN

Region Stockholm
HUDDINGE

Genetic mechanisms in progeria
Karolinska Institutet - Huddinge
Department of Biosciences and Nutrition

SWEDEN

Region Västra Götaland
GÖTEBORG

Targeting the CAAX protein processing enzymes in the treatment of progeria
Göteborg University
Department of Molecular and Clinical Medicine

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 KINGDOM

Tayside
DUNDEE

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic epidemiology of complex traits
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Ontario
TORONTO

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberDeciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute

FINLAND

Finland
HELSINKI

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

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

Baden-Württemberg
FREIBURG

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberDesigning therapeutic strategies to rescue epidermal defects in AEC syndrome
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl

ITALY

LAZIO
ROMA

Study of inherited skin disorders: molecular pathogenesis, diagnosis and genotype-phenotype correlation
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O.C. di Dermatologia

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

NETHERLANDS

Groningen
GRONINGEN

Funded by an IRDiRC memberGenetic therapy through exon-skipping for dystrophic epidermolysis bullosa
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica

SPAIN

Andalucía
SEVILLA

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica

SWITZERLAND

Suisse Alémanique
ZÜRICH

Molecular Basis and Pathology of Connective Tissue Disorders
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

UNITED STATES

New York
NEW YORK

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US

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

ITALY

VENETO
ZELARINO

Multicentric Research projects