Launched in 2021 in collaboration with Fondazione Cariplo - a philanthropic organization that leverages its financial, human, and strategic resources to promote the common good and support people in achieving their potential - this call was created to strengthen basic research in the field of rare diseases, both genetic and non-genetic in origin.
Our shared goal is to encourage the study of genes and gene families, RNA molecules, and proteins whose functions remain unknown, but which may play a crucial role in understanding rare diseases and, more broadly, human biology.
Basic research in rare diseases is still largely underfunded, yet it is often pioneering in opening new avenues for applied research into more common conditions. A review of the scientific literature shows that researchers and funding agencies tend to focus on a limited portion of the human genome. The most studied genes are not necessarily the most important: sometimes the choice depends simply on the timing of their discovery. As a result, many non-coding DNA regions, gene sets, and their corresponding RNAs and proteins remain unexplored, despite their potential involvement in key molecular pathways and in both physiological and pathological processes.
Through this initiative, Fondazione Telethon and Fondazione Cariplo support basic research projects that seek to shed light on these unexplored areas, with the conviction that understanding the unknown functions of the genome may ultimately pave the way for innovative therapeutic strategies.
At a glance (2021-2024)
The Scientific committee
Projects are evaluated by an international scientific committee whose members serve for a maximum of 4 years. Currently, the committee consists of the following scientists:
- Massimo Pandolfo [CHAIR], M.D, Co-Director, Clinical Research Unit Professor a McGill University (Montreal, Québec, CA)
- Søren Brunak [VICE CHAIR], Ph.D, Research Director at Novo Nordisk Foundation Center for Protein Research, Copenhagen University (Copenhagen, Hovedstaden, DK)
- Jacques Beckmann, Ph.D, Prof Emeritus at University of Lausanne (Lausanne, Canton of Vaud, CH)
- Erica Davis, Ph.D, Professor of Pediatrics, Cell and Developmental Biology at Northwestern University Feinberg School of Medicine (Evaston, Illinois, USA)
- Hugo Guerrero Cazares, M.D, Ph.D, Associate Professor of Neurosurgery, Mayo Clinic (Rochester, Minnesota, USA)
- Jean-Yves Masson, Ph.D, Full Professor, Oncolology, Laval University (Québec City, Québec, CA)
- Lisa Monteggia, Ph.D, Barlow Family Director of the Vanderbilt Brain Institute and Professor of Pharmacology at Vanderbilt University (Nashville, Tennessee, USA)
- Gillian Butler - Brown, Ph. D, Director Emeritus of Research at INSERM (Paris, Île-de-France, FR)
- Nicholas Wood, Ph.D, Research director of the UCL Institute of Genetics and is Galton Professor of Genetics at University College London (London, England, UK)
- Jonathan Schertzer, Ph.D, Professor in Biochemistry and Biomedical Sciences at McMaster (Hamilton, Ontario, CA)
- Christian Frezza, Ph.D, Alexander von Humboldt Professor for Metabolism in Aging CECAD at University of Cologne (Koeln, Nordrhein-Westfalen, DE)
- Nael Nadif Kasri, Ph.D, Professor, Medical Neuroscience for Neurodevelopmental Disorders at Radboud University (Nijmegen, Gelderland, NL)
- Juan Ramon Martínez Morales, Ph.D, Principal Investigator at Andalusian Center for Developmental Biology CABD (Seville, Andalusia, ES)
- Colin Johnson, Ph.D, Professor of Medical & Molecular Genetics at University of Leeds (Leeds, West Yorkshire, UK)
- Boris Rogelj, Ph.D, Professor, Head of Department of Biotechnology at Jožef Stefan Institute (Ljubljana, SI)
- Dieter Reinhardt, Ph.D, Professor, Department of Anatomy and Cell Biology at McGill University (Montréal, Québec, CA)
