Joint Transnational Call 2022 – Funded Projects

Joint Transnational Call (JTC2022)

The fourth Joint transnational Call (JTC 2022) with the topic “Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases” was launched in November 2021 with participation of 27 funders from 21 countries: Australia, Austria, Belgium, Canada (including Québec), Czech Republic, Finland, France, Germany, Hungary, Ireland, Israel, Italy, Lithuania, Luxembourg, Poland, Slovakia, Spain, Sweden, Switzerland, The Netherlands, Turkey.

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 future benefit for patients.

The process included a two-step submission and evaluation procedure. 101 eligible consortia submitted proposals to the first step of this call. The Scientific Evaluation Committee (SEC) evaluated these pre-proposals and 21 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, 12 consortia with a foreseen budget of about 17 Mio € were selected for funding.

The list of funded projects is detailed below. More information on the outcomes of the call (statistics, etc.) will be provided soon.

  • COMPRare : Towards the most accurate diagnosis and monitoring of Complement-mediated rare kidney diseases
  • UPS-NDDiag : Development of diagnostic solutions for neurodevelopmental disorders caused by ubiquitin-proteasome system dysfunction
  • IMAGINER : Optical imaging as a diagnostic tool for monitoring brain function in X-linked rare disorders: from preclinical models to patients
  • ProgerOmics : Identification of biomarkers to monitor the progression of Hutchinson-Gilford progeria syndrome
  • PREDICT : Towards a PREcise DIagnosis in Ciliopathies
  • EURONET- NF : European Network for improved molecular diagnostics of the Neurofibromatoses-schwannomatoses and related disorders
  • GENOMIT : A multi-omics approach for diagnostics and monitoring of mitochondrial disorders
  • Resolve 15q : European Network on Inherited Sensory Neuropathies and Insensitivity to Pain
  • ODINO : Optimization of the diagnostic approach for inborn errors of immunity leading to hyper-inflammation
  • PreDYT : PREdictive biomarkers in DYsTonia: defining the paradigm of monogenic dystonia to implement the diagnosis and prognosis of undiagnosed forms
  • EUREKA : Bonding molecular genotyping and phenotyping to outcome measures in AL amyloidosis: A EUropean REgistry and sample sharing networK to promote the diagnosis and management of light chain Amyloidosis
  • SPMH : Metabolic test in vivo for malignant hyperthermia