Fondazione Cariplo and Fondazione Telethon after the success of the three previous “Joint Call for Applications” initiatives, funding 59 projects with an approved total contribution of approximately 14 million euros, have renewed their Alliance to invest in a further joint initiative aiming at fostering basic research in support of projects focused on aspects of rare diseases that are largely unknown or poorly understood. 

Basic research, especially in the field of rare diseases, is still an orphan area of investment, but it is also pioneering for the development of applied research in more frequent diseases. Indeed, the analysis of scientific literature has highlighted the tendency of researchers to focus on a limited portion of the human genome. The most studied genes are not necessarily the most significant: sometimes studying one gene instead of another is simply linked to the timing of its discovery. There are therefore numerous DNA regions and gene sets - with their relative mRNAs and proteins - whose function is still unknown but could potentially play an important role within molecular pathways, physiological and pathological mechanisms. 

As a result of the renewed Alliance, Fondazione Cariplo and Fondazione Telethon are pleased to announce a fourth “Joint Call for Applications”. The Call is in support of basic research projects focusing on the study of genes/gene families, mRNAs and proteins whose function is unknown in rare diseases of genetic (both monogenic and polygenic) and non-genetic origin. The term unknown refers to targets for which information on the structure, function, interacting molecules and drugs is not known. Based on the classification developed by the Illuminating the Druggable Genome Knowledge Management Center (IDG-KMC), these targets are defined as Tdark. Applicants must check the classification of the target they intend to study at the link https://pharos.nih.gov/: the chosen target must be classified as Tdark at the Call deadline. Although the association of the Tdark(s) with the disease must not necessarily have already been demonstrated or published, applicants must carefully justify the rationale for which the Tdark(s) was/were chosen in relation to a specific disease. 

For this Call, research projects can be submitted as Full Applications, either single- or bi-center research projects with a solid background, and a maximum allowed budget of 250,000 €, or as Pilot Applications, one-year single-center research projects with the potential to generate data and/or tools to elucidate a role for Tdark(s) associated with rare diseases, and a maximum allowed budget of 50,000 €.  

Eligible projects might focus on the following genetic aspects: 

  • Genes associated with rare diseases whose function is completely or largely unknown 
  • One genotype, multiple clinical phenotypes 
  • Genetic modifiers 

This Call will NOT support applications focused on: 

  • Amyotrophic lateral sclerosis (ALS), as funding opportunities for ALS are available through AriSLA (http://www.arisla.org/), a dedicated Foundation supported by Fondazione Cariplo and Fondazione Telethon 
  • Non-coding RNA (miRNA, lncRNA etc.) 

Only research proposals submitted by investigators working either in public or private Italian non-profit research Institutions are eligible. 

Researchers working in Fondazione Telethon Research Institutes (TIGET, TIGEM) are not eligible. 

Deadlines 

Call text and guidelines are available on both Fondazione Cariplo and Fondazione Telethon websites. 

Application Submission Deadline: 27th March 2025. 

Forms 

Download the guidelines for reviewers 

Download the application sample form - Pilot 

Download the application sample form - Full  

In case of doubts, please contact the scientific staff at telethonjointcall@fondazionecariplo.it 

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