Fondazione Cariplo and Fondazione Telethon: 21 projects funded with 5 million euros for basic research in rare diseases

The best projects of the 2022 call for basic research from all over Italy to study still obscure portions of our genetic heritage have been funded.

The collaboration between Fondazione Cariplo and Fondazione Telethon continues: 21 new basic research projects have been funded for a total of about 5 million euros. The goal of the joint initiative, now in its 2nd edition, is to understand genetic aspects and molecular mechanisms that are still largely unknown or poorly understood, but potentially useful to develop new therapies for rare diseases.

Although the human genome has been completely sequenced, about one-third of human proteins have not yet been described. This unexplored portion of the genome could help elucidate new physiological and pathological mechanisms and could represent a wealth of information for discovering new therapeutic pathways. The call for proposals by Fondazione Cariplo and Fondazione Telethon therefore aimed to support basic research in this area, drawing inspiration from a National Institutes of Health (NIH) initiative focused on the study of those parts of our genetic heritage that, to date, remain obscure but should be "illuminated". Specifically, the projects have to be focused on the study of T-dark targets, defined according to criteria established by the Illuminating the Druggable Genome Knowledge Management Center (IDG-KMC), for which information on structure, function and interaction with molecules and drugs is unknown.

21 selected projects
34 research groups
18 areas of study

The 21 selected projects are going to be carried out by 34 research groups spread across the country: Friuli Venezia Giulia, Lazio, Liguria, Lombardy, Piedmont, Abruzzo, Tuscany and Veneto. More than 18 areas and diseases are going to be studied, including some neurodevelopmental disorders, intellectual disabilities, autoimmune diseases, a form of pediatric leukemia, a mitochondrial disease, cardiomyopathy, a renal disease, and a movement disorder.

A total of 92 project proposals were received from Italian nonprofit, public or private research organizations. Of these, 78 were deemed eligible and proceeded to the evaluation process, which was performed by a scientific committee of 13 internationally renowned scientists from around the world and chaired by Dr. Massimo Pandolfo from McGill University in Montreal, Canada. To ensure the transparency and fairness of the evaluation, the method of peer-review was used, which indicates the critical evaluation that a paper or publication receives from specialists with similar expertise to that of the applicants.

"Even in the second edition of this call for proposals, we received many proposals from the scientific community".

Francesca Pasinelli, General Director of Fondazione Telethon

"This further reinforces the hypothesis that the key to unlocking the mechanisms underlying several as-yet unanswered rare diseases may just be 'hidden' in this virtually unexplored area of investigation."

"We are happy to continue the partnership with Fondazione Cariplo and to support research in this direction with the hope that we can, thus, lay the groundwork for the development of new treatment strategies."

"The quantity and quality of the research projects proposed for this second edition of the call demonstrate the vibrancy of the scientific community and the interest in the topic. Indeed, the study of the human genetic heritage and the understanding of the mechanisms within it represent a field of research with very high potential, capable of opening up new diagnostic and therapeutic scenarios. The Fondazione Cariplo - Fondazione Telethon Joint Call for Proposals is an extremely positive experience of collaboration, based on the common belief that investing in research and knowledge is essential to improve the lives of people, their families and the entire community," commented Giovanni Fosti, President of Fondazione Cariplo.


The winners of the Call

Find all the winners of the Call:

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