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.
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:
- Antonella Forlino (University of Pavia), “Skeletal development and physiological ER stress: dissecting the role of SUCO in osteoblastogenesis”
- Pietro Roversi (Institute of Agricultural Biology and Biotechnology of the CNR of Milan) and Marco Trerotola (University of Chieti-Pescara), “Broad-spectrum rescue-of-secretion of Tdark glycoprotein mutants”
- Michael Pusch (Institute of Biophysics of the CNR of Genoa), “Functional properties, localization and physiopathology of putative glucose transporter SLC45A1 involved in epilepsy and intellectual disability”
- Patrizia D’Adamo (University “Vita-Salute” San Raffaele of Milan) and Fabrizia Guarnieri (Institute of Neuroscience of the CNR of Milan), “Unravelling WASHC4 brain-specific function to uncover its implication in intellectual disability”
- Emanuele Azzoni (University of Milan Bicocca), “Novel targets modulating the inflammatory response in juvenile myelomonocytic leukemia”
- Chiara Verpelli (Institute of Neurosciece of the CNR of Monza), “Role of Kctd20 gene in the pathogenesis of Phelan McDermid syndrome”
- Jens Geginat (University of Milan) and Chiara Vasco (National Institute of Molecular Genetics of Milan), “Compose LI(L)RA1 ballad: enlighten its role in cutaneous lupus erithematosus”
- Ivan De Curtis (University “Vita-Salute” San Raffaele of Milan), “Structure-function characterization of TANC2, a novel postsynaptic candidate associated to neuropsychiatric disorders”
- Elisa Di Pasquale (Institute for Genetics and Biomedical Research of the CNR of Milan) and Marco Rasponi (Polytechnic University of Milan), “Exploring the role of MLIP in LMNA-Cardiomyopathy in iPSC-based human cardiac models”
- Valentina Massa and Alessandro Fantin (University of Milan), “MAU2: the (T)dark side of Cornelia de Lange syndrome”
- Luca Ferrari (University of Milano) and Chiara Bellocchi (Maggiore Hospital Policlinico of Milan), “Evaluation of Human Endogenous Retroviruses as possible mediators of environmental exposure effects in sistemic sclerosis”
- Lorenzo Cingolani (University of Trieste) and Paolo Scudieri (University of Genoa), “Targeting Hippocalcin-like protein 4 (HPCAL4) provides new therapeutic opportunities for episodic ataxia type 2 and epileptic encephalopathy 42”
- Luca Proietti De Santis (University of Tuscia), “The long tail of a STAR: a matter of cell differentiation impairment and aberrant cytoskeletal dynamics to explain STAR syndrome phenotype”
- Matteo Fossati and Michela Matteoli (Humanitas Foundation), “Dissecting the role of the KLHL17 gene in the molecular pathogenesis of the West syndrome”
- Antonello Mallamaci (International School for Advanced Studies of Trieste), “Neuronal activity control by products of Foxg1-responsive, Tdark Rnf genes”
- Anna Corradi (University of Genoa) and Federico Zara (Gaslini Institute of Genoa), “Molecular and functional investigation of the role of TMEM151A in the pathogenesis of paroxysmal disorders”
- Raffaele Badolato (University of Brescia) and Eleonora Gambineri (University of Florence), “Unravelling the role of ZNF341 in HIES, STAT3 GOF and STAT1 GOF-related inborn errors of immunity"
- Carlo Cosimo Campa (Italian Institute for Genomic Medicine) and Letizia De Chiara (University of Florence), “Disease mechanism and pharmacological approaches for TBC1D8B-induced steroid resistant nephrotic syndrome”
- Cecilia Mannironi, (Institute of Molecular Biology and Pathology of the CNR of Rome) and Ilaria Meloni (University of Siena), “Studies on PRPF40B/MECP2 crosstalk in Rett syndrome”
- Maria Eugenia Soriano (University of Padua), “Molecular interactions and functional dissection of TMEM65: relevance for mitochondrial diseases”
- Ferdinando Fiumara (University of Turin) and Luca Colnaghi (Universitày “Vita-Salute” San Raffaele of Milan), “Mechanisms and therapeutic targets of NEDAMSS, a novel regressive neurodevelopmental syndrome”
