Joint Transnational Call 2019 – Funded Projects

Joint Transnational Call (JTC2019)

In December 2018 the EJP RD launched its first Joint Transnational Call (JTC2019) co-funded with the European Commission to fund multilateral “Research projects to accelerate diagnosis and/or explore disease progression and mechanisms of rare diseases”. The aim of the call was to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear benefit for patients. Twenty three countries joined this call: Austria, Belgium, Canada (including Québec), Czech Republic, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Israel, Italy, Lithuania, Luxembourg, Poland, Portugal, Slovakia, Spain, Sweden, Switzerland, The Netherlands and Turkey.
The process included a two-step submission and evaluation procedure.
In the first step a total of 217 eligible pre-proposals were submitted. After careful examination by the Scientific Evaluation Committee (SEC), 52 pre-proposals were selected for full submission. Each of the full proposals was then evaluated by at least two additional external experts whose reviews were sent to project coordinators in order to give them the opportunity of studying the assessments and commenting on experts’ arguments and evaluations. Both inputs were taken into account in a second SEC meeting.
Following the second SEC evaluation and ranking of the best projects, 22 consortia with a foreseen budget of about 30,5 Mio € were selected for funding, including almost 6 Mio € of co-funding from the European Commission.
The list of funded projects is detailed below. More information on the funded projects and the outcomes of the call (lay summaries, statistics, etc.) will be provided soon.

  • PREDACTING : Predicting the clinical outcome of non-muscle actinopathies
  • FIGHT-CNNM2 : For Improving diagnostics and Grasping the disease mechanisms of rare Hypomagnesemia in paTients with CNNM2 mutations
  • MYOCITY : A multidimensional single-cell approach to understand muscle dystrophy
  • IDOLS-G : Improved diagnostic output in large sarcomeric genes
  • EURDYSCOVER : Pathophysiology of dystonia – role of gene-environment interaction and common pathophysiological pathways
  • GENOMIT : Mitochondrial Disorders: from a global registry to medical genomics, toward clinical trials
  • LQTS-NEXT : To the NEXT level of risk prediction in patients with Long QT Syndrome
  • ENISNIP : European Network on Inherited Sensory Neuropathies and Insensitivity to Pain
  • PROSPAX : an integrated multimodal progression chart in spastic ataxias
  • ASPECT-NMO : Measuring autoantigen-specific T cells as new diagnostic sensors and therapeutic targets in neuromyelitis optica
  • FAIRVASC : FAIRVASC – building registry interoperability to inform clinical care
  • NG4LEUKO : Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy
  • PROGERIA : The rarest of the rare – exploring non-coding RNA in the disease pathogenesis of Hutchinson-Gilford progeria syndrome
  • TARID : Thymic Abnormalities in Rare Immunological Diseases
  • NSEURONET : European network on Noonan syndrome and related disorders
  • URGENT : Unveiling the Role of Glutamate in dopaminE traNspoTer deficiency syndrome
  • SOLVE-RET : Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models
  • DEVDBA : Ontogeny as a critical determinant of DBA sensitivity in red blood cells
  • ALEXANDER : The astrocyte nanofilament system in Alexander disease – from molecules to function, uncovering new leads for therapy
  • RARE-ILD : RAISING DIAGNOSTIC ACCURACY AND THERAPEUTIC PERSPECTIVES IN INTERSTITIAL LUNG DISEASES
  • RIBOEUROPE : The European Ribosomopathy Consortium
  • PHYSPATH-KS : Understanding the pathophysiology of Keutel Syndrome: A path towards cure