Fondazione Cariplo and Fondazione Telethon: 24 projects funded with more than 5 million euros for basic research in the field of rare diseases

Winners of the 2021 Call for Basic Research have been selected from all over Italy to study the still obscure portions of our genetic heritage.

Thanks to the alliance between Fondazione Cariplo and Fondazione Telethon, 24 basic research projects have been funded for a total of 5.7 million euros. The goal of the joint initiative is to understand genetic aspects and molecular mechanisms that are still largely unknown or poorly understood today, but potentially useful in aiding the development of 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.

The 24 selected projects feature 35 research groups spread across the country: Campania, Lazio, Liguria, Lombardy, Tuscany, Molise, Trentino-Alto Adige and Veneto. More than 15 areas and diseases are going to be studied, including neurodevelopmental and growth disorders, rheumatological diseases, kidney diseases, neurological diseases, muscular dystrophy, Rett syndrome, Huntington's disease, a rare and genetic form of Alzheimer's disease, blood diseases, and mitochondrial diseases.

A total of more than 200 project proposals were received, and submitted by Italian nonprofit, public, or private research organizations. Of these, 132 were deemed eligible and proceeded to the evaluation process, which was performed by a scientific committee of 15 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.

«Basic research, particularly with regard to rare diseases, is still today an orphan area of investment, and this limits the number of studies launched, particularly in completely unexplored areas – says Francesca Pasinelli, General Director of Fondazione Telethon. – Actually, basic research represents a forerunner for innovation in general, developing key knowledge that is also potentially useful for applied research in the field of more frequent pathologies. In light of these considerations, Fondazione Telethon and Fondazione Cariplo decided to create this alliance with the common goal of fostering the growth of scientific research through projects whose results can over time address the unmet needs of patients and their families, in areas with few or no therapeutic options. We are therefore very happy with this partnership, which will continue in the coming years, and we hope that other Foundations will also follow Cariplo's example by pooling resources and expertise to support research on rare diseases».

«The last two years have clearly shown us the innovative and generative capacity of basic research, capable of creating that common ground from which discoveries arise over time that radically change people's lives. Fondazione Cariplo has always supported research and continues to do so today alongside the Fondazione Telethon, which shares with us the urgency of trying to give answers to those people who find themselves in particularly difficult conditions – concludes Giovanni Fosti, President of Fondazione Cariplo. – Facing the current challenges and complexity, networking and the sharing of knowledge are increasingly necessary».