Joint Calls

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.

All Funded Projects

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Year Acronym Project Coordinator Title
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
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
2017 TREAT-MTMs James Dowling Novel therapies for neuromuscular diseases with altered phosphoinositide metabolism
2017 MuTaEB Fernando Larcher Mutation-targeted gene and pharmacological therapies for dystrophic and junctional Epidermolysis Bullosa
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 TreatOPON Bernd Wissinger Preclinical Development of Treatments for OPA1-linked Optic Neuropathies
2017 TREAT-HGPS Vicente Andrés Exploring new therapeutic strategies in Hutchinson-Gilford progeria syndrome preclinical models
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 Cure-AID Andy Wullaert IL-18 and MRP neutralization for the treatment of anti-IL-1-refractory autoinflammatory diseases
2017 ERAAT Bert Klebl Enhancing Endoplasmic Reticulum Proteostasis to Rescue Alpha1 Antitrypsin Deficiency
2017 CureDravet Moran Rubinstein Curing Dravet Syndrome by Gene Therapy
2017 CALSER Mart Saarma The effect of CDNF in ALS and ER stress
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 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
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.
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
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
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
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
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 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
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 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 TUB-GENCODEV Chelly Jamel Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development
2011 CRANIRARE-2 Wollnik Bernd An integrated clinical and scientific approach for craniofacial malformations
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 Cure-FXS Dierssen Mara Targeting Rho-signalling, a new therapeutic avenue in fragile X syndrome
2009 EuroGeBeta Vaxillaire Martine European network on genetics, pathophysiology and translational research into rare pancreatic beta-cell insufficiency diseases
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 CAV-4-MPS Bosch Assumpcio Understanding and treating neurodegeneration caused by mucopolysaccharidoses
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 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
2007 OSTEOPETR Ugazio Alberto Giovanni New Genes and Therapeutic Approaches to Osteopetrosis
2007 PodoNet Schaefer Franz PodoNet: Consortium for Clinical, Genetic and Experimental Research into Hereditary Diseases of the Podocyte
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 HAE III Cichon Sven Genetics, Pathophysiology, and Therapy of Hereditary Angioedema Type III
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 WHIMPath Viola Antonella Understanding the WHIM syndrome and search for new therapies: molecular analysis of CXCR4 functions in leukocyte trafficking and activation
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 EuroRETT Villard Laurent European Network on Rett Syndrome
2007 EUROSPA Brice Alexis European and Mediterranean network on spastic paraplegias
2007 HSCR Lyonnet Stanislas International Hirschsprung Disease Consortium
2007 Kindlernet Bruckner-Tuderman Leena International Kindler Syndrome Network
2007 MTMPathies Laporte Jocelyn Myotubularinopathies: common molecular mechanism and tissue specificity

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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

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75012 Paris, France

 

E-Rare 2012 - Created by Toussaint Biger