The collaboration between the Cariplo Foundation and the Telethon Foundation continues: 21 new basic research projects have been selected for a total of around 5 million euros. The objective of the joint initiative, now in its 2nd edition, is the understanding of genetic aspects and molecular mechanisms that are still largely unknown or poorly understood today, but potentially useful for promoting the development of new therapies for rare diseases.
Although the human genome has been completely sequenced, approximately one third of human proteins have not yet been described1. This still unexplored portion of the genome could help clarify new physiological and pathological mechanisms and could represent a mine for discovering new therapeutic pathways. The call by Fondazione Cariplo and Fondazione Telethon therefore aimed to support basic research in this area, drawing inspiration from an initiative of the National Institutes of Health (NIH) focused on the study of those parts of our genetic heritage which, to date, they remain dark but should be “enlightened”. In particular, the projects had to focus on the study of the so-called Tdark targets, defined according to the criteria established by the Illuminating the Druggable Genome Knowledge Management Center (IDG-KMC), for which no information on the structure, function and interaction with molecules and drugs.
The 21 selected projects see the presence of 34 research groups distributed throughout the national territory: Friuli-Venezia Giulia, Lazio, Liguria, Lombardy, Piedmont, Abruzzo, Tuscany and Veneto. More than 18 areas and diseases are studied, including some neurodevelopmental disorders, intellectual disabilities, autoimmune diseases, a form of pediatric leukemia, mitochondrial disease, cardiomyopathy, kidney disease and a movement disorder.
A total of 92 project proposals were received, presented by Italian non-profit, public or private research institutions. Of these, 78 were deemed suitable and subjected to the evaluation process, entrusted to a medical-scientific commission of 13 international scientists from all over the world and chaired by Dr. Massimo Pandolfo of McGill University in Montreal (Canada). To guarantee the transparency and correctness of the evaluation, the peer-review method was used, which indicates the critical evaluation that a work or publication receives from specialists with skills similar to those of the person presenting them .
“Also in the second edition of this call, we received many proposals from the scientific community – declared Francesca Pasinelli, Director General of the Telethon Foundation – This further strengthens the hypothesis that the key to revealing the mechanisms underlying various rare pathologies still unanswered could just being “hidden” in this practically unexplored area of investigation. We are happy to continue the partnership with the Cariplo Foundation and to direct research in this direction with the hope of being able, thus, to lay the foundations for the development of new strategies of care”.
“The quantity and quality of the research projects that have been proposed for this second edition of the call show us the liveliness of the scientific community and the interest in the topic. The study of the human genetic heritage and the understanding of the mechanisms within it represent a research field with very high potential, capable of opening up new diagnostic and therapeutic scenarios. The joint Cariplo Foundation – Telethon Foundation tender is an extremely positive collaborative experience, based on the common belief that investing in research and knowledge is essential for improving the lives of people, their families and the whole community”. commented Giovanni Fosti, President of the Cariplo Foundation.
Telethon Foundation ETS
Fondazione Telethon ETS is one of the main Italian biomedical charities, founded in 1990 on the initiative of a group of patients suffering from muscular dystrophy. Its mission is to arrive at the cure of rare genetic diseases thanks to scientific research of excellence, selected according to the best practices shared internationally. Through a unique method in the Italian panorama, it follows the entire “research chain” dealing with fundraising, the selection and financing of projects and the research activity itself carried out in the Foundation’s centers and laboratories. Telethon also develops partnerships with public health institutions and pharmaceutical industries to translate research results into therapies accessible to patients. Since its foundation it has invested over 623 million euros in research, has financed 2,804 projects with 1,676 researchers involved and 589 diseases studied. To date, thanks to the Telethon Foundation, the first gene therapy with stem cells in the world has been made available, born thanks to the collaboration with the pharmaceutical industry. Strimvelis, this is the commercial name of the therapy, is intended for the treatment of ADA-SCID, a serious immunodeficiency that compromises the body’s defenses from birth. Another gene therapy resulting from Telethon research made available is that for a serious neurodegenerative disease, metachromatic leukodystrophy, with the commercial name of Libmeldy. This therapeutic approach is in an advanced stage of clinical trials for another immunodeficiency, Wiskott-Aldrich syndrome. Other diseases in which the gene therapy developed by Telethon researchers has been evaluated in patients are beta thalassemia and two childhood metabolic diseases, mucopolysaccharidosis type 6 and type 1. Furthermore, within the Telethon institutes it is advanced stage of study or development of a targeted therapeutic strategy also for other genetic diseases, such as haemophilia or various hereditary defects of vision. At the same time, the study of the basic mechanisms and potential therapeutic approaches for pathologies still unanswered continues in all laboratories funded by Telethon.
Cariplo Foundation
Fondazione Cariplo supports projects of social utility in Lombardy and in the Piedmontese provinces of Novara and Verbano Cusio Ossola, supporting public bodies and non-profit organizations. Every year, on average, more than 1,000 projects are carried out thanks to non-repayable contributions distributed through tenders, emblematic, territorial, institutional and patronage donations, for a commitment of around 150 million euros. The Foundation is dedicated to philanthropy through its economic, planning and professional resources to encourage and support the implementation of projects that put the common good, the growth of people and the collective interest at the centre.
From 1991 to today, 37,732 projects have been supported in Lombardy and in the Piedmontese provinces of Novara and Verbano-Cusio-Ossola for over 3.9 billion euros in grants.
In particular, 2447 projects supported in the Scientific Research sector for approximately 563 million euros. Fondazione Cariplo has oriented its 2023 philanthropic activity towards strategic objectives including support for multidisciplinary and social research, young researchers, the circular economy, rare diseases, agri-food and food policy.