Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.
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Home ›Year | Acronym | Project Coordinator | Title |
---|---|---|---|
2018 | REPETOMICS | GELI Vincent | Genomic Instability of Expanded Repeats in HD and ALS/FTD |
2018 | UltraAIE | Meyer zu Hörste Gerd | Single cell-based ultra high-resolution characterization of intrathecal immunity in Autoimmune Encephalitis |
2018 | ReCognitiON | Peter 't Hoen | Recognition and Validation of Druggable Targets from the Response to Cognitive Behaviour Therapy in Myotonic Dystrophy type 1 patients from Integrated -Omics Networks |
2018 | INTEGRALS | Corti Stefania | INTEGRative multi-OMICs approaches on iPSC-derived 2D and 3D models to elucidate the role of immune and energy metabolism related genes/pathways in Amyotrophic Lateral Sclerosis |
2018 | MSA-omics | Höglinger Günter | Multi-omics approach to predict therapeutic targets for multiple system atrophy |
2018 | IMPACT | van Bokhoven Hans | Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy |
2018 | RAinRARE | Michaud Jacques L. | Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment |
2018 | HETER-OMICS | Fiona FRANCIS | Multi-OMICS interrogation of cerebral cortical malformations |
2018 | EUROGLYCAN | Matthijs Gert | Towards a new era for the identification and characterisation of inborn errors of glycosylation |
2018 | NARCOMICS | LIBLAU Roland | Deciphering the immunopathogenesis of type 1 nacolepsy with omics |
2018 | MAXOMOD | Lingor Paul | Multi-omic analysis of axono-synaptic degeneration in motoneuron disease |
2018 | LADOMICS | Fagerholm Susanna | Multi-omics approaches for discovery of new disease mechanisms of LAD-I and LAD-III immunodeficiencies |
2018 | i-PAD | Ballestar Esteban | Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification |
2017 | TreatOPON | Bernd Wissinger | Preclinical Development of Treatments for OPA1-linked Optic Neuropathies |
2017 | TreatPolyQ | Huu Phuc Nguyen | Allele-specific lowering of mutant polyQ proteins as treatment for Huntington disease, spinocerebellar ataxia type 3 and spinocerebellar ataxia type 7 |
2017 | MuTaEB | Fernando Larcher | Mutation-targeted gene and pharmacological therapies for dystrophic and junctional Epidermolysis Bullosa |
2017 | TREAT-MTMs | James Dowling | Novel therapies for neuromuscular diseases with altered phosphoinositide metabolism |
2017 | CALSER | Mart Saarma | The effect of CDNF in ALS and ER stress |
2017 | CureDravet | Moran Rubinstein | Curing Dravet Syndrome by Gene Therapy |
2017 | ERAAT | Bert Klebl | Enhancing Endoplasmic Reticulum Proteostasis to Rescue Alpha1 Antitrypsin Deficiency |
2017 | Cure-AID | Andy Wullaert | IL-18 and MRP neutralization for the treatment of anti-IL-1-refractory autoinflammatory diseases |
2017 | SCA-CYP | Nathalie Cartier | Gene Therapy for Cerebellar Ataxias: restoring cholesterol metabolism by targeting brain cholesterol 24 hydroxylase (CYP46A1) |
2017 | EDSCIDPROG | Luigi Naldini | Gene edited lymphoid progenitors for adoptive transfer as a treatment of primary immunodeficiency |
2017 | TREAT-HGPS | Vicente Andrés | Exploring new therapeutic strategies in Hutchinson-Gilford progeria syndrome preclinical models |
2016 | ReDox | Repurposing doxycycline in the treatment of AL amyloidosis | |
2016 | NICOFA | Jörg Schulz | Nicotinamide for the treatment of Friedreich ataxia |
2016 | DPem | Ralf Ludwig | Dimethylfumarate for the treatment of bullous pemphigoid |
2016 | HCQ4Surfdefect | Matthias Griese | Hydroxychloroquine (HCQ) in pediatric ILD |
2016 | ROPROP | Christoph Bührer | Propranolol for preemptive treatment of threshold retinopathy of prematurity |
2016 | ROCK-ALS | Paul Lingor | Inhibition of Rho Kinase (ROCK) with Fasudil as disease-modifying treatment for ALS |
2016 | REALS | Eran Hornstein | Repurposed Enoxacin for the treatment of patients with Amyotrophic Lateral Sclerosis |
2016 | TAMDMD | Dirk Fischer | Tamoxifen in Duchenne muscular dystrophy - a randomised placebo controlled phase 2 trial |
2015 | SMART-HaemoCare | Peter Lenting | Small Antibody Fragment as Alternative Tools in Haemophilia Care |
2015 | Hipbi-RD | Ana Rath | Harmonising phenomics information for a better interoperability in the RD field |
2015 | NSEuroNet | Marco Tartaglia | European network on Noonan syndrome and related disorders |
2015 | EuroDBA | Alyson MacInnes | The European Diamond-Blackfan Anemia Consortium |
2015 | PERescue | Nancy Braverman | Translating Peroxisome Biogenesis Disorders: Identifying Pharmacological Therapies and Clinical Trial Endpoints |
2015 | Propekal5 | Georgia Sotiropoulou | Tracing the untackled facets of Peeling Skin Disease-Targeting epidermal proteolysis for treatment |
2015 | EuroCID | Stephan Ehl | Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge |
2015 | iNSC-WMD | Marjo Van der Knaap | Patient-Derived Glial Precursor Cell Therapy for Vanishing White Matter Disease |
2015 | Improve CPVT | Arthur Wilde | Improving diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia: integrating clinical and basic science |
2015 | GENOMIT | Holger Prokisch | Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies |
2015 | INSAID | Marco Gattorno | A comprehensive clinical and experimental approach to personalized molecular medicine in patients with defined and undefined autoinflammatory disorders |
2015 | EURO-CDG-2 | Gert Matthijs | A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders. |
2015 | ERAdicatPH | Bodo Beck | Understanding primary hyperoxaluria type 1 towards the development of innovative therapeutic strategies. |
2015 | KLKIN | Alain Hovnanian | Netherton Syndrome; From mechanism to therapies |
2015 | CoHEART | Gregor Andelfinger | IMPROVING CARE FOR COHESINOPATHIES: FROM HEART PHENOTYPES TO NOVEL THERAPIES |
2015 | CMT-NRG | Michael Sereda | Modulation of Neuregulin signaling as an effective strategy to treat hereditary neuropathies (Charcot-Marie-Tooth disease) |
2015 | GETHERTHALPLUS | Nicholas Anagnou | Novel Gene Therapy for Thalassemia: Pre-clinical Development and Assessment in Animal and Stem Cell Models |
2015 | INSTINCT | Ulrich Martin | Induced pluripotent stem cells for identification of novel drug combinations targeting cystic fibrosis lung and liver disease |
2015 | PREPARE | Matthis Synofzik | Preparing for therapies in autosomal recessive ataxias |
2014 | Treat-AID | Johannes Roth | New treatments for auto-inflammatory diseases |
2014 | Drug_FXSPreMut | Rob Willemsen | Preclinical approaches towards therapeutic intervention for fragile X premutation carriers |
2014 | EBThera | Bruckner-Tuderman Leena | Repurposing biomolecules for the treatment of epidermolysis bullosa |
2014 | RescueCFTRpreclinic | Luigi Maiuri | Cysteamine for the treatment of cystic fibrosis: a translational research project |
2014 | CHAPRION | Jesús Requena | Pharmacological chaperones for genetic prion diseases |
2014 | EURO-CMC | Frank van de Veerdonk | Novel treatment strategies for autosomal dominant chronic mucocutaneous candidiasis |
2014 | TREAT-NEMMYOP | Ottenheijm Coen | Fast Skeletal Troponin Activation for Restoring Muscle Strength in Mouse Models of Nemaline Myopathy: a Molecular, Cellular, Metabolic and Functional Assessment |
2014 | ARTEMIS | Wassilos Meissner | Targeting Alpha-Synuclein for Treating Multiple System Atrophy |
2014 | NTC study | Emma Francesco | Novel Therapies for Cystinosis |
2014 | CantuTreat | Gijs van Haaften | Sulfonylurea drugs to treat Cantú syndrome |
2014 | PrionImmunity | Adriano Aguzzi | Immunotherapy of familial prion diseases |
2014 | TheraLymph | Tatiana Petrova | Therapeutic approaches for treatment of hereditary lymphedema |
2014 | CCMCURE | Salim Seyfried | Cerebral Cavernous Malformations Pharmacological Supression Screen |
2014 | FaSMALS | Cédric Raoul | Common Pathogenic Pathways and Therapeutics for SMA and ALS motoneuron diseases |
2013 | NEUROLIPID | Elena Irene Rugarli | Lipid metabolism in the pathogenesis of hereditary spastic paraplegia: genes, biomarkers, and models for therapy |
2013 | inter-FSHD-epigen | Davide Gabellini | An international effort to understand FSHD muscular dystrophy epigenetics |
2013 | THYRONERVE | Heike Heuer | Allan-Herndon-Dudley Syndrome: Mechanisms of disease and therapeutic approaches in model organism |
2013 | OPTOREMODE | Serge Picaud | Retinitis Pigmentosa diagnosis and therapy: retinal remodeling and optogenetic reactivation of degenerated retina |
2013 | CLC & MLC | Raúl Estévez | CLC chloride channels and Megalencephalic leukoencephalopathy: molecular mechanisms and therapeutics |
2013 | EUROMICRO | Alain Verloes | Primary monogenic microcephalies : from genetics to pathophysiology and the clinic |
2013 | SIRD | Michael Rudnicki | Stimulating Intrinsic Repair for DMD |
2013 | RNA-ALS | Heather Durham | Dysregulation of RNA in the pathogenesis of ALS |
2013 | IIH-ECC | Glenville Jones | Idiopathic Infantile Hypercalcemia: European-Canadian Consortium |
2013 | ACAMIN | Jerôme Devaux | Autoantibodies to cell adhesion molecules in inflammatory neuropathies |
2013 | EUPLANE | Carlo L. Balduini | EUropean PLAtelet NEtwork for studying physiopathology of two inherited thrombocytopenias, THC2 and MYH9-RD, characterized by genetic alterations of RUNX1-target genes |
2013 | GOSAMPAC | Jerôme Bertherat | Genomics of cAMP signaling alterations in adrenal Cushing |
2012 | SpliceEB | Marjon Pasmooij | Splicing therapies for Dystrophic Epidermolysis Bullosa |
2012 | TARGET-CdLS | Frank Kaiser | Targeting unknowns in causes and phenotypes of the Cornelia de Lange Syndrome |
2012 | PPPT-MJD | Philipp Koch | Towards the understanding of pathological protein processing and toxicity in Machado-Joseph Disease |
2012 | Eur-USH | Kerstin Nagel-Wolfrum | European young investigators network for Usher syndrome |
2012 | ALS-degeneration | Eran Perlson | The molecular basis for neurodegeneration and muscle atrophy in ALS |
2012 | HEART DM | Nicolas Charlet-Berguerand | Exploring the mechanisms of heart dysfunctions in myotonic dystrophies |
2012 | PYRAMID | Jan Herman Veldink | Phenotype Research for ALS modifyer discovery |
2012 | EMINA-2 | Andreas Hermann | European Multidisciplinary Initiative on Neuroacanthocytosis – 2 |
2012 | COQ-iPSC | Pablo Menendez | 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 |
2012 | EuroDBA | Alyson MacInnes | European Diamond-Blackfan Anemia Consortium |
2012 | Cure-FXTAS | Renate Hukema | Experimental approaches towards therapeutic intervention for Fragile X-associated Tremor Ataxia Syndrome |
2011 | GENOMIT | Meitinger Thomas | Mitochondrial Disorders – Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models |
2011 | Euro-SCAR | Koenig Michel | Nosology and molecular diagnosis of the degenerative recessive ataxias |
2011 | TRANSPOSMART | Scherman Daniel | An innovating platform using transposon and S/MAR for von Willebrand disease gene therapy |
2011 | WHIM-Thernet | Bachelerie Françoise | WHIM syndrome: Pathological basis and development of therapeutic molecules |
2011 | TUB-GENCODEV | Chelly Jamel | Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development |
2011 | EDEN | Marignier Romain | 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 |
2011 | MTMPathies2 | Bolino Alessandra | MTM1 and MTMR2 myotubularins: biochemical activity and the regulation of membrane trafficking in health and disease |
2011 | SkinDev | Hennies Hans Christian | In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening |
2011 | CRANIRARE-2 | Wollnik Bernd | An integrated clinical and scientific approach for craniofacial malformations |
2011 | IPF-AE | Prasse Antje | Acute Exacerbation of Idiopathic Pulmonary Fibrosis: Mechanism and Biomarkers |
2011 | EURO-CDG | Matthijs Gert | A European research network for a systematic approach to CDG and related diseases |
2011 | Rare-G | Moeller Marcus | The Epidermal Growth Factor System in Rare Glomerular Disease: From Molecular Mechanisms to Therapeutics |
2011 | HEMO-iPS | Barquinero Jorge | Use of patient-specific induced pluripotent stem cells to improve diagnosisand treatment of hemophilia A |
2009 | EURO-CGD | AIUTI Alessandro | Genetics and pathogenesis of chronic granulomatous disease and development of new gene transfer therapeutic approaches |
2009 | EMINA | Danek Adrian | European Multidisciplinary Initiative on Neuroacanthocytosis |
2009 | EuPAPNet | Luisetti Maurizio | European pulmonary alveolar proteinosis network : molecular determinants of causes, variability and outcome |
2009 | ERMION | Bonneau Dominique | European research project on mendelian inherited optic neuropathie |
2009 | ELA2-CN | Welte Karl H. | Congenital neutropenia with ELA-2 mutations (ELA2-CN): Identification of (epi)genetic co-factors and molecular pathways underlying clinical heterogeneity |
2009 | Cure-FXS | Dierssen Mara | Targeting Rho-signalling, a new therapeutic avenue in fragile X syndrome |
2009 | CAV-4-MPS | Bosch Assumpcio | Understanding and treating neurodegeneration caused by mucopolysaccharidoses |
2009 | RHORCOD | Audo Isabelle | Comprehensive analysis of rod-cone photoreceptor degeneration associated with rhodopsin gene mutations |
2009 | EB | Jonkman Marcel | 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 |
2009 | NsEuroNet | Tartaglia Marco | European network on noonan syndrome and related disorders |
2009 | NEUTRO-NET | Klein Christoph | Inherited inhibition of inborn immunity – an integrated molecular genetic approach to discover novel human gene defects |
2009 | NEMMYOP | Bendahan David | Functional characterization of nemaline myopathy in a murine model with nebulin mutation: moving from basic understanding towards therapeutic interventions |
2009 | MLC-Team | Estévez Raul | Megalencephalic leukoencephalopathy with subcortical cysts: from molecular basis to search for therapy |
2009 | HMA-IRON | Beaumont Carole | Towards improved diagnosis and treatment of rare inherited microcytic hypochromic anemias related to iron metabolism |
2009 | GETHERTHAL | ANAGNOU Nicholas | Improvements of vector technology and safety for the gene therapy of thalassemia |
2009 | EuroGeBeta | Vaxillaire Martine | European network on genetics, pathophysiology and translational research into rare pancreatic beta-cell insufficiency diseases |
2007 | EUROBFNS | Cilio Maria Roberta | Benign Familial Neonatal Seizures (BFNS) as disease model for human idiopathic epilepsies: expansion of the genotype-phenotype correlations and insights into novel disease mechanisms |
2007 | Epinostics | Thiesen Hans-Jürgen | "Autoimmune liver diseases” Epitope peptide mapping – The entry to novel and innovative diagnostic and therapeutic applications |
2007 | CRANIRARE | Wollnik Bernd | An integrated clinical and scientific approach for craniofacial malformations |
2007 | HAE III | Cichon Sven | Genetics, Pathophysiology, and Therapy of Hereditary Angioedema Type III |
2007 | WHIMPath | Viola Antonella | Understanding the WHIM syndrome and search for new therapies: molecular analysis of CXCR4 functions in leukocyte trafficking and activation |
2007 | RISCA | Klockgether Thomas | Prospective study of individuals at risk for spinocerebellar ataxia type 1, type 2, type 3 and type 6 (SCA1, SC2, SCA3, SCA6) |
2007 | PodoNet | Schaefer Franz | PodoNet: Consortium for Clinical, Genetic and Experimental Research into Hereditary Diseases of the Podocyte |
2007 | OSTEOPETR | Ugazio Alberto Giovanni | New Genes and Therapeutic Approaches to Osteopetrosis |
2007 | MTMPathies | Laporte Jocelyn | Myotubularinopathies: common molecular mechanism and tissue specificity |
2007 | Kindlernet | Bruckner-Tuderman Leena | International Kindler Syndrome Network |
2007 | HSCR | Lyonnet Stanislas | International Hirschsprung Disease Consortium |
2007 | EUROSPA | Brice Alexis | European and Mediterranean network on spastic paraplegias |
2007 | EuroRETT | Villard Laurent | European Network on Rett Syndrome |
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For more information ABOUT E-Rare please contact:
E-Rare Coordinator
Daria JULKOWSKA
Tel.: +33(0) 1 78 09 80 78
+33(0) 6 20 14 13 81
daria.julkowska@agencerecherche.fr
Agence Nationale de la Recherche - ANR
Health & Biology Department
50 Avenue Daumesnil
75012 Paris, France