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.”
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.
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