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Funded by an IRDiRC member = Member of a ERN =
Research projects

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

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

OOST-VLAANDEREN
GENT
Characterisation of genes and molecular mechanisms involved in hereditary connective tissue diseases by studying transgenic animal models and human tissues
Center for Medical Genetics Gent
Centrum voor Medische Genetica - UZ Gent

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

AUVERGNE-RHONE-ALPES
PRAGUE
Pig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

GRAND-EST
STRASBOURG CEDEX
Rare Invisible Disease and Schooling of Children
ESPE de Strasbourg
Equipe Apprentissages, pratiques d'enseignement et d'éducation

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT
Impact of pulmonary disorder and effect of embolization of pulmonary arteriovenous malformations on the quality of life in the Rendu-Osler disease
CHU Paris IdF Ouest - Hôpital Ambroise Paré
Service de Radiologie

ILE-DE-FRANCE
CRÉTEIL
Mechanisms of regulation of muscle stem cell quiescence by the extracellular matrix of the niche
CHU Henri Mondor

PAYS DE LA LOIRE
ANGERS
Ca-Art-PXE2 study - Impact of the arterial wall calcification on the lower limb arterial stiff ness in the pseudoxanthoma elasticum.
CHU d'Angers
Service de dermatologie et vénéréologie

Baden-Württemberg
FREIBURG
MuTaEB : Mutation-targeted gene and pharmacological therapies for dystrophic and junctional Epidermolysis Bullosa (partner no 1)
Universitäts-Klinik für Dermatologie und Venerologie
Epidermolysis bullosa-Zentrum

Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe

Baden-Württemberg
ULM
GeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

Bayern
MÜNCHEN
TREAT-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

Bayern
WÜRZBURG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik

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

Hamburg
HAMBURG
GeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

Hessen
FRANKFURT AM MAIN
Phase IV Study: Status of the growth hormone/ insulin-like growth factor-1 axis in relation to growth failure, body weight and neuroprotection in children with Ataxia Telangiectasia
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

Niedersachsen
GÖTTINGEN
GeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

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

Nordrhein-Westfalen
DÜSSELDORF
GeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie

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

Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

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

LAZIO
ROMA
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families
A.O. S. Andrea
Servizio di Genetica Medica

LAZIO
ROMA
Pediatric ataxias and public health: epidemiological studies and disease registry, development of multi-level informatics platform for clinicians and family, and implementation of guidelines for diagnosis, management and care within the national health system
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Prevenzione delle Malattie e la Promozione della Salute

LOMBARDIA
MILANO
A novel approach to the understanding and treatment of Hutchinson-Gilford Progeria Syndrome
Istituto FIRC di Oncologia Molecolare
Dipartimento di Oncologia Molecolare

LOMBARDIA
MILANO
Excitatory/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
CHIBA
Evidence creation through nationwide surveillance of the progeria syndrome Werner syndrome and establishment ofa case registration system
Graduate School of Medicine, Chiba University

JAPAN
HOKKAIDO
A strategy to optimize treatment options for epidermolysis bullosa
Hokkaido University Hospital
Department of Dermatology

JAPAN
MIYAGI
Pathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

Castilla - León
SALAMANCA
Effect of endoglin expression on the capacity of MSCs to modulate angiogenesis: a potential therapeutic approach to vascular malformations characteristic of HHT
IBSAL - Instituto de Investigación Biomédica de Salamanca
Fisiopatología vascular y renal

Madrid
MADRID
Evaluation 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

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

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

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

Tayside
DUNDEE
MICA: Delivering gene silencing therapy to the epidermis and ocular surface
University of Dundee
School of Life Sciences

Washington
ADDRESS: NOT PROVIDED - US
Use of rapamycin for the treatment of hypertrophic cardiomyopathy in patients with leopard syndrome
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex traits
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Hutchinson-gilford progeria syndrome--a model for the genetics of aging
Institution: Information not provided - US

OOST-VLAANDEREN
GHENT
Patient-based Specific Care Versus Standard Care for Patients With the Hypermobility Type of the Ehlers-Danlos Syndromes (hEDS) or Hypermobility Spectrum Disorders (HSD) and Multidirectional Shoulder Instability
Department Rehabilitation Sciences and Physiotherapy, Ghent University
Department of rehabilitation sciences

Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

Ontario
TORONTO
Deciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute

Finland
HELSINKI
FinnDisMice - Mouse Models for Finnish Disease Heritage
University of Helsinki

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

ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

PAYS DE LA LOIRE
NANTES
FROGH : 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

Baden-Württemberg
FREIBURG
A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

Nordrhein-Westfalen
AACHEN
POTSKog-Study Aachen: Understanding Impaired Concentration, Attentional Deficits and Their Pathophysiology in Postural Orthostatic Tachycardia Syndrome (POTS) and Other Autonomic Neuropathies
Universitätsklinikum Aachen
Klinik für Neurologie

Nordrhein-Westfalen
AACHEN
ProANS-Study: Autonomic Neuropathy and Its Pathophysiology in Autoimmune Autonomic Neuropathies, Postural Orthostatic Tachycardia Syndrome and Ehlers Danlos Syndromes: Peripheral Autonomic Small Fiber Neuropathy or Central Autonomic Failure?
Universitätsklinikum Aachen
Klinik für Neurologie

CAMPANIA
NAPOLI
Designing therapeutic strategies to rescue epidermal defects in AEC syndrome
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl

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
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

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

Groningen
GRONINGEN
Genetic therapy through exon-skipping for dystrophic epidermolysis bullosa
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica

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

Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica

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

Greater London
LONDON
The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders. Study of the genes DKC1, TERC, TERT, TIN2, NOP10, NHP2, C16orf57 and TCAB1 and new gene discovery
Barts and The London School of Medicine and Dentistry
Centre for Paediatrics

Lothian
EDINBURGH
Identification of genes for Primordial Dwarfism (MOPD I, MOPD II, Seckel syndrome, Meier-Gorlin syndrome and Dubowitz syndrome), and Primary Microcephaly (with short stature)
Western General Hospital
MRC Human Genetics Unit

New York
NEW YORK
The Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) Study
The Ehlers-Danlos Society

Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Generation of induced pluripotent stem (ips) cell lines from somatic cells of participants with eye diseases and from somatic cells of matched controls
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Applying bioinformatics to research in immune; muscle; and bone diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Genetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US

VENETO
ZELARINO
Towards 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

VENETO
ZELARINO
Advanced therapy medicinal products for the treatment of ocular defects in Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare
Multicentric Research projects
- Institut de Biologie et Chimie des Protéines
- LBTI - Laboratoire de Biologie Tissulaire et Ingénierie thérapeutique
- Fondation René Touraine
- Institut de Recherche sur la Peau, Fondation René Touraine
- UMCG - Universitair Medisch Centrum Groningen
- Afdeling Dermatologie
- Department of Health
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Hôpital Necker-Enfants Malades
- Service de Génétique Moléculaire
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Cologne Center for Genomics (CCG) der Universität zu Köln
- Abteilung Dermatogenetik
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica

AUVERGNE-RHONE-ALPES
LYON
ELAST-AGE: targeting the elastic tissues ageing to improve the quality of ageing (FINISHED)

ILE-DE-FRANCE
PAROS
TAG: TogetherAgainstGenodermatoses - amélioration des soins de santé et assistance sociale pour les patients et les familles touchées par les génodermatoses sévères

Groningen
GRONINGEN
SpliceEB: Splicing therapies for Dystrophic Epidermolysis Bullosa

Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway

Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)

ILE-DE-FRANCE
PARIS
THERAPEUSKIN: European network on gene therapy of hereditary epidermolysis bullosa (FINISHED)

ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy

PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health

Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network

Nordrhein-Westfalen
KÖLN
SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening

CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes

LAZIO
ROMA