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2017
- 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)
- The effect of CDNF in ALS and ER stress (CALSER )
2016
- 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)
- Translating Peroxisome Biogenesis Disorders: Identifying Pharmacological Therapies and Clinical Trial Endpoints (PERescue)
- Understanding primary hyperoxaluria type 1 towards the development of innovative therapeutic strategies (ERAdicatPH)
2014
- Targeting Alpha-Synuclein for Treating Multiple System Atrophy (ARTEMIS)
- Novel Therapies for Cystinosis (NTC study)
- Sulfonylurea drugs to treat Cantú syndrome (CantuTreat)
- Immunotherapy of familial prion diseases (PrionImmunity)
- Therapeutic approaches for treatment of hereditary lymphedema (TheraLymph)
- Cerebral Cavernous Malformations Pharmacological Supression Screen (CCMCURE)
- 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)
- Idiopathic Infantile Hypercalcemia: European-Canadian Consortium (IIH-ECC)
- Lipid metabolism in the pathogenesis of hereditary spastic paraplegia: genes, biomarkers, and models for therapy (NEUROLIPID)
- Primary monogenic microcephalies : from genetics to pathophysiology and the clinic (EUROMICRO)
- Retinitis Pigmentosa diagnosis and therapy: retinal remodeling and optogenetic reactivation of degenerated retina (OPTOREMODE)
- Stimulating Intrinsic Repair for DMD (SIRD)
2012
- 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)
- Mitochondrial Disorders – Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models (GENOMIT)
- 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)