Telethon, 45 studies on rare genetic diseases are underway

  There are 45 research projects on rare genetic diseases financed with over 10 million euros through the 2020 call for extramural research of the Telethon Foundation.

    Overall, 518 researchers from all over Italy submitted a request for funding.

Of these, 139 were selected to present a complete project.

    The evaluation of the proposals was entrusted to the Foundation's Medical Scientific Committee, chaired by Naomi Taylor, of the US National Institutes of Health.

At the end of the selection, the 45 who have access to funding were chosen, and which involve as many research groups distributed throughout the national territory (Abruzzo, Campania, Emilia-Romagna, Friuli-Venezia Giulia, Lazio, Liguria, Lombardy, Molise, Piedmont, Sardinia, Tuscany, Trentino-Alto Adige and Veneto).

A total of over 40 rare genetic diseases are being studied, including 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 pathologies such as Huntington's disease, Angelman's syndrome and various forms of epilepsy.

    "The pandemic - comments Francesca Pasinelli, director general of the Telethon Foundation - has renewed in the eyes of all the universal need to enhance science, which plays a crucial role for the future of society and the life of all of us, not only in periods of emergency".

New this year, the Telethon Career Award, or the opportunity for young researchers to compete in the context of this call together with more established colleagues, thanks to the possibility of requesting additional funding for their salary for the duration of their own project.

Of the 45 funded projects, one will also include the Career Award for a total of 40 thousand euros per year.