Just days before Rare Disease Day, Telethon Foundation announced the eight winning projects of its Fall Seed Grant call (11th edition), run with the support of four patient associations: DDX3X Italia, ARSACS, the Tuberous Sclerosis Association, and the Xia-Gibbs Association.
Among the funded projects is a SISSA-led study on Xia-Gibbs syndrome, coordinated by Remo Sanges. Directly supported by the Xia-Gibbs Association, the project is titled: “Characterization of AHDC1 function and exploration of SINEUP RNAs as a molecular rescue strategy in Xia-Gibbs syndrome.”
Seed Grants are exploratory grants designed to support innovative ideas in the early stages of research, with the aim of generating solid preliminary data and paving the way for broader research programs. In this edition, eight projects were funded (seven supported by patient associations and one directly by Telethon Foundation), each receiving €50,000 for a one-year duration.
The SISSA project focuses on the AHDC1 gene and aims to clarify how these alterations affect cellular function by studying AHDC1’s role in the nucleolus, a structure involved in ribosome production. Sanges’s group will also test an experimental molecular rescue strategy based on SINEUP RNAs, to selectively and controllably enhance gene translation, with the goal of generating new insights into AHDC1 and early evidence to inform future therapeutic approaches.
With this new round of funding, Telethon Foundation’s Seed Grant program has now reached 96 funded projects, involving 39 patient associations and 38 diseases studied, for a total investment of €4.85 million.
More information and the full list of funded projects is available on Telethon Foundation website.