Maria Pennuto, Principal Investigator at VIMM, and Mario Bortolozzi, Head of Facility at VIMM, are among the winners of Fondazione Telethon’s 2024 call for proposals to fund research on rare diseases.

Their two research projects were selected within the fourth round of Fondazione Telethon’s Multi-Round Call, which awarded a total of €6.35 million to 36 research projects on rare genetic diseases across Italy.

Professor Pennuto’s project focuses on the study of DNA damage and cellular aging mechanisms

to identify new therapeutic targets for Kennedy’s disease, also known as spinal and bulbar muscular atrophy (SBMA).

The study has shown that the mutated androgen receptor (AR) causes DNA damage, thereby triggering premature cellular aging. The goal of the research is to further investigate these processes, understand how and why they are activated, and test the effectiveness of drugs currently used for prostate cancer to develop potential therapeutic approaches for Kennedy’s disease patients.

Professor Bortolozzi’s project, on the other hand, focuses on studying the dysfunctions of the Cx32 protein in the peripheral nervous system and on identifying a potential therapeutic target for Charcot-Marie-Tooth disease.

This is a sensory-motor neuropathy, currently without a cure, that affects the nerves of the peripheral nervous system and typically begins in childhood, causing muscle weakness and atrophy—especially in the legs and hands—as well as reduced sensitivity in the extremities.

The research team has developed tools and methodologies that provide crucial insights into the physiology and pathological mutations of the Cx32 protein, while also allowing the evaluation of potentially therapeutic molecules using innovative cellular models.