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

Join the online webinar organized by CIBERER, on January 13^th at 10h, for detailed information and to address specific questions: Click here to join the meeting

Research proposals should cover at least one of the following areas:

1. 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;
2. Prognostic markers/biomarkers investigations for early diagnosis and monitoring;
3. 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;
4. 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);
5. Development of pathway models to enable diagnosis, especially for newly discovered diseases that may share underlying molecular mechanisms with already known diseases.

The maximum duration of the project is three years.

There will be a two-stage submission procedure for joint applications: pre-proposals and full proposals (15/06/2022). 

Eligibility Criteria

Joint research proposals should be submitted by consortia involving a minimum of three and a maximum of six eligible partners from at least three different countries participating in the Call.

No more than two eligible partners from the same country participating in the Call will be accepted in one consortium.

Applicants are encouraged to include research partners from participating countries usually underrepresented in projects (Czech Republic, Slovakia, Hungary, Lithuania, Poland, and Turkey). If they include such research partners, the maximum number of research partners can be increased to eight. Consortia are also encouraged to include Early Career Scientists as principal investigators in their proposal.

Funding is made available by each national/regional funding organisation according to its specific regulations, for research groups in its country/region (the 'virtual common pot' funding model).

The duration of projects can be up to three years.

Restrictions

The following approaches and topics are excluded from the scope of the JTC 2021:

• 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.

Applications must be submitted via an electronic submission system.

More info at: https://www.ejprarediseases.org/jtc2022/

In case of interest, please contact frecerca.internacional(ELIMINAR)@sjd.es