The Department of International Cooperation is delighted to pre-announce the 4th Joint Transnational Call (JTC 2022) to be launched in December 2021 by the consortium EJP RD (European Joint Programme on Rare Diseases) on the topic of

"Development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic monitoring of rare diseases"

CALL TOPIC

Research proposals should cover at least one of the following areas

• Phenotype-driven diagnosis: integration across different ontologies, integration of shared pathways, digital phenotyping, development of artificial intelligence approaches/applications to extract health related data in aid of diagnosis; 
• Prognostic markers/biomarkers investigations for early diagnosis and monitoring; 
•  Methodologies for solving cases that are currently difficult to analyze due to different underlying mechanisms (e.g. mosaicism, genomic (non-coding) alterations, gene regulation, complex inheritance), including new genomics / functional genomics technologies, multi-omics, mathematics, biostatistics, bioinformatics and artificial intelligence approaches;  
•  Functional strategies to globally stratify variants of unknown significance (VUS) for clinical use; setting up of (in vitro) systems to distinguish between VUS and pathogenic variants (e.g. confirming disruption of splicing for deep intronic variants, loss of protein function, and gain of toxic protein function);  
• Development of pathway models to enable diagnosis, especially for newly discovered diseases that may share underlying molecular mechanisms with already known diseases.  It is possible to use cellular and animal models for validation of the new diagnostic approaches in the subtopics listed above where relevant.

(It is possible to use cellular and animal models for validation of the new diagnostic approaches in the subtopics listed above where relevant.)

The following approaches and topics are excluded from the scope of the call:

• Interventional clinical trials to prove efficacy of drugs, treatments, surgical procedures, medical technology procedures. This also includes studies comparing efficacy, e.g.  two surgical techniques or therapies. Clinical phase IV pharmacovigilance studies cannot be funded either.
• Studies on the exclusive testing of the safety of medical devices. 
• Development of new therapies as covered in EJP RD JTC 2020.
• Projects focusing only on rare neurodegenerative diseases which are within the main focus of the Joint Programming Initiative on Neurodegenerative Disease Research (JPND). These are: Alzheimer’s disease and other dementias; Parkinson’s disease (PD) and PD-related disorders; Prion diseases; Motor Neuron Diseases; Huntington’s disease; Spinal Muscular Atrophy and dominant forms of Spinocerebellar Ataxia. Interested researchers should refer to the relevant JPND calls. However, childhood dementias/neurodegenerative diseases are not excluded.
• Rare infectious diseases, rare cancers and rare adverse drug events in treatments of common diseases. Rare diseases with a predisposition to cancer are not excluded.

PARTICIPATING ORGANISATIONS

A number of national and regional funding organisations will participate in the EJP RD Joint Transnational Call (JTC) 2022 and will fund multilateral research projects on rare diseases under the EJP-COFUND action. The following funding organisations in their respective countries/regions have expressed their interest in joining the JTC2022:

• Medical Research Future Fund (MRFF), Australia
• Austrian Science Fund (FWF), Austria*
• Research Foundation Flanders (FWO), Belgium, Flanders
• Fund for Scientific Research - FNRS (F.R.S.-FNRS), Belgium, French-speaking community
• Canadian Institutes of Health Research – Institute of Genetics (CIHR-IG), Canada
• Fonds de recherche du Québec-Santé (FRQS), Québec (Canada)
• Ministry of Education, Youth and Sports (MEYS), Czech Republic 
• Academy of Finland (AKA), Finland
• French National Research Agency (ANR), France
• Foundation For Rare Diseases (FFRD), France
• German Ministry of Education and Research (BMBF), Germany 
• National Research, Development and Innovation Office (NKFIH), Hungary* 
• Health Research Board (HRB), Ireland*
• Chief Scientist Office of the Ministry of Health (CSO-MOH), Israel
• Italian Ministry of Health (MoH-IT), Italy
• Regional Foundation for Biomedical Research (FRRB), Lombardy (Italy)
• Tuscany Region (RT/TuscReg), Tuscany (Italy)
• Research Council of Lithuania (LMT), Lithuania
• National Research Fund (FNR), Luxembourg
• National Centre for Research and Development (NCBR), Poland
• Slovak Academy of Sciences (SAS), Slovakia
• National Institute of Health Carlos III (ISCIII), Spain
• Swedish Research Council (SRC), Sweden
• Vinnova, Sweden
• Swiss National Science Foundation (SNSF), Switzerland
• Netherlands Organization for Health Research and Development (ZonMw)The Netherlands*
• The Scientific and Technological Research Council of Turkey (TUBITAK), Turkey* 

*Decision still pending.

 

PRELIMINARY TIMETABLE

SAS' participation in this call was approved by the resolution no. 136 of the SAS Presidium on 14 October 2021. The Presidium allocated an indicative budget of up to 40,000€ per year (of which 15,000 € per year is an in-kind contribution of the SAS applicant’s organisation) for 1 project with maximum duration of 3 years.

More information in the attachment or at:: https://www.ejprarediseases.org/joint-transnational-call-2022/

Partner search tool: https://live.eventtia.com/en/jtc2022matchmaking

SAS contact person: Zuzana Černáková, +421 2 57510118, cernakova@up.upsav.sk