Allele-specific lowering of mutant polyQ proteins as treatment for Huntington disease, spinocerebellar ataxia type 3 and spinocerebellar ataxia type 7 (TreatPolyQ)
Curing Dravet Syndrome by Gene Therapy (CureDravet)
Enhancing Endoplasmic Reticulum Proteostasis to rescue Alpha1 Antitrypsin Deficiency (ERAAT)
Exploring new therapeutic strategies in Hutchinson-Gilford progeria syndrome preclinical models (TREAT-HGPS)
GENE EDITED LYMPHOID PROGENITORS FOR ADOPTIVE TRANSFER AS A TREATMENT OF PRIMARY IMMUNODEFICIENCY (TREAT-HGPS)
Gene Therapy for Cerebellar Ataxias: restoring cholesterol metabolism by targeting brain cholesterol 24 hydroxylase (CYP46A1) (SCA-CYP)
IL-18 and MRP neutralization for the treatment of anti-IL-1-refractory autoinflammatory diseases (Cure-AID)
Mutation-targeted gene and pharmacological therapies for dystrophic and junctional Epidermolysis Bullosa (MuTaEB)
Novel therapies for neuromuscular diseases with altered phosphoinositide metabolism (TREAT-MTMs)
Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (TreatOPON)
Dimethylfumarate for the treatment of bullous pemphigoid (DPem)
Hydroxychloroquine (HCQ) in pediatric ILD (HCQ4Surfdefect)
Inhibition of Rho Kinase (ROCK) with Fasudil as disease-modifying treatment for ALS (ROCK-ALS)
Nicotinamide for the treatment of Friedreich ataxia (NICOFA)
Propranolol for preemptive treatment of threshold retinopathy of prematurity (ROPROP)
Repurposed Enoxacin for the treatment of patients with Amyotrophic Lateral Sclerosis (REALS)
Repurposing doxycycline in the treatment of AL amyloidosis (ReDox)
Tamoxifen in Duchenne muscular dystrophy – a randomised placebo controlled phase 2 trial (TAMDMD)
2015
A comprehensive clinical and experimental approach to personalized molecular medicine in patients with defined and undefined autoinflammatory disorders (INSAID)
A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders (EURO-CDG-2)
European network on Noonan syndrome and related disorders (NSEuroNet)
Harmonising phenomics information for a better interoperability in the RD field (Hipbi-RD)
Improving care for cohesinopathies: from heart phenotypes to novel therapies (CoHEART)
Improving diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia: integrating clinical and basic science (Improve CPVT)
Induced pluripotent stem cells for identification of novel drug combinations targeting cystic fibrosis lung and liver disease (INSTINCT)
Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies (GENOMIT)
Modulation of Neuregulin signaling as an effective strategy to treat hereditary neuropathies (Charcot-Marie-Tooth disease) (CMT-NRG)
Netherton Syndrome; From mechanism to therapies (KLKIN)
Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge (EuroCID)
Novel Gene Therapy for Thalassemia: Pre-clinical Development and Assessment in Animal and Stem Cell Models (GETHERTHALPLUS)
Patient-Derived Glial Precursor Cell Therapy for Vanishing White Matter Disease (iNSC-WMD)
Preparing for therapies in autosomal recessive ataxias (PREPARE)
Small Antibody Fragment as Alternative Tools in Haemophilia Care (SMART-HaemoCare)
The European Diamond-Blackfan Anemia Consortium (EuroDBA)
Tracing the untackled facets of Peeling Skin Disease-Targeting epidermal proteolysis for treatment (Propekal5)
Common Pathogenic Pathways and Therapeutics for SMA and ALS motoneuron diseases (FaSMALS)
New treatments for auto-inflammatory diseases (Treat-AID)
Preclinical approaches towards therapeutic intervention for fragile X premutation carriers (Drug_FXSPreMut)
Repurposing biomolecules for the treatment of epidermolysis bullosa (EBThera)
Cysteamine for the treatment of cystic fibrosis: a translational research project (RescueCFTRpreclinic)
Pharmacological chaperones for genetic prion diseases (CHAPRION)
Novel treatment strategies for autosomal dominant chronic mucocutaneous candidiasis (EURO-CMC)
Fast Skeletal Troponin Activation for Restoring Muscle Strength in Mouse Models of Nemaline Myopathy: a Molecular, Cellular, Metabolic and Functional Assessment (TREAT-NEMMYOP)
2013
Allan-Herndon-Dudley Syndrome: Mechanisms of disease and therapeutic approaches in model organism (THYRONERVE)
An international effort to understand FSHD muscular dystrophy epigenetics (inter-FSHD-epigen)
Autoantibodies to cell adhesion molecules in inflammatory neuropathies (ACAMIN)
CLC chloride channels and Megalencephalic leukoencephalopathy: molecular mechanisms and therapeutics (CLC & MLC)
Dysregulation of RNA in the pathogenesis of ALS (RNA-ALS)
EUropean PLAtelet NEtwork for studying physiopathology of two inherited thrombocytopenias, THC2 and MYH9-RD, characterized by genetic alterations of RUNX1-target genes (EUPLANE)
Genomics of cAMP signaling alterations in adrenal Cushing (GOSAMPAC)
Advancing the European Multidisciplinary Initiative on Neuroacanthocytosis – EMINA-2: Dissecting the molecular pathophysiology of Chorea-Acanthocytosis (EMINA-2*)
Coenzyme Q10 Deficiency Syndrome: Understanding the genotype-phenotype association and metabolic dysfunction through generation of induced pluripotent stem cells (iPSCs) from patient-specific uncorrected and genetically-corrected cells (COQ-IPSC)
European Diamond-Blackfan Anemia Consortium (EuroDBA)
European young investigators network for Usher syndrome (Eur-USH**)
Experimental approaches towards therapeutic intervention for Fragile X-associated Tremor Ataxia Syndrome (Cure-FXTAS)
In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening (SkinDev)
Phenotype Research for ALS modifyer discovery (PYRAMID)
Splicing therapies for Dystrophic Epidermolysis Bullosa (SpliceEB)
Targeting the unknowns in causes and phenotypes of the Cornelia de Lange Syndrome (TARGET-CdLS)
The Molecular Basis for Neurodegeneration and Muscle Atrophy in ALS (ALS-degeneration)
Towards the Understanding of Pathological Protein Processing and Toxicity in Machado-Joseph Disease (PPPT-MJD)
Understanding the causes of heart defects in myotonic dystrophies (HEART DM)
2011
A European research network for a systematic approach to CDG and related diseases (EURO-CDG)
Acute Exacerbation of Idiopathic Pulmonary Fibrosis: Mechanism and Biomarkers (IPF-AE)
An innovating platform using miniplasmids, transposon and S/MAR for von Willebrand disease gene therapy (TRANSPOSMART)
An integrated clinical and scientific approach for craniofacial malformations (CRANIRARE-2)
Eugène Devic European Network: establishment and use of an European database and biological bank for research and treatment in acute neuromyelitis optica and related disorders (EDEN)
Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development (TUB-GENCODEV)
MTM1 and MTMR2 myotubularins: biochemical activity and the regulation of membrane trafficking in health and disease (MTMpathies2)
Nosology and molecular diagnosis of the degenerative recessive ataxias (Euro-SCAR)
The Epidermal Growth Factor System in Rare Glomerular Disease: From Molecular Mechanisms to Therapeutics (Rare-G)
WHIM syndrome: Pathological basis and Development of therapeutic molecules (WHIM-Thernet)
2010
Comprehensive analysis of rod-cone photoreceptor degeneration associated with Rhodopsin gene mutations (RHORCOD)
Congenital neutropenia with ELA-2 mutations (ELA2-CN): Identification of (epi)genetic co-factors and molecular pathways underlying clinical heterogeneity (ELA2-CN)
European Multidisciplinary Initiative on Neuroacanthocytosis (EMINA)
European Network on Genetics, Pathophysiology and Translational Research into Rare Pancreatic Beta-Cell Insufficiency Diseases (EuroGeBeta)
European network on Noonan Syndrome and related disorders (NsEuroNet)
European Pulmonary Alveolar Proteinosis Network : Molecular Determinants of Causes, Variability and Outcome (EuPAPNet)
European Research project on Mendelian Inherited Optic Neuropathie (ERMION)
Functional characterization of Nemaline Myopathy in a murine model with nebulin mutation: Moving from basic understanding towards therapeutic interventions (NEMMYOP)
Genetics and pathogenesis of chronic granulomatous disease and development of new gene transfer therapeutic approaches (EURO-CGD)
Identification of revertant mosaicism in epidermolysis bullosa and subsequently using the revertant keratinocytes in a pre-clinical mouse model suitable to test revertant cell therapy (EB)
Improvements of vector technology and safety for the gene therapy of thalassemia (GETHERTHAL)
Inherited inhibition of inborn immunity – an integrated molecular genetic approach to discover novel human gene defects (NEUTRO-NET)
Megalencephalic leukoencephalopathy with subcortical cysts: from molecular basis to search for therapy (MLC-Team)
Targeting Rho-signalling, a new therapeutic avenue in fragile X syndrome (Cure-FXS)
Towards improved diagnosis and treatment of rare inherited microcytic hypochromic anemias related to iron metabolism (HMA-IRON)
Understanding and treating neurogeneration caused by mucopolysaccharidoses (CAV-4-MPS)
