The Telethon Foundation has selected two Sapienza research projects as winners of the 2020 call for proposals on rare genetic diseases. The projects are among the seven selected by the Foundation's medical-scientific committee in the Lazio region with a funding of over 1.4 million euros and among the 45 awarded at the national level for about 10 million euros.

The research project coordinated by Paola Bezzi of the Vittorio Erspamer Department of Physiology and Pharmacology aims to investigate the role of mitochondria in the onset of cognitive deficits typical of 22q11 syndrome, a congenital malformation disorder, in order to identify new potential therapeutic targets.

At the Department of Molecular Medicine, the project of Giuseppe Giannini will focus on identifying new functions of the NBS1 gene, responsible for Nijmegen syndrome, a rare genetic disease characterised by microcephaly, growth retardation, immunity defects and susceptibility to tumour development.

Five hundred eighteen researchers throughout Italy applied for funding under the 2020 call for proposals promoted by the Telethon Foundation, of which 139 were selected to submit a complete project, and only 45 were awarded.

A total of more than 40 rare genetic diseases are being studied in the projects: these include various forms of muscular atrophy and dystrophy, eye diseases such as Schnyder's lens dystrophy or EEC and AEC syndromes, metabolic diseases such as Fabry's and Wolman's, but also numerous neurological diseases such as Huntington's disease, Angelman's syndrome and various forms of epilepsy.