Rare Disease Day 2017 – Friedreich ataxia: Researchers from Fratagene Therapeutics and the University of Rome “Tor Vergata” identify a new therapeutic target

A few days before the International Rare Disease Day - which is celebrated annually on the last day of February - the prestigious journal "Cell Reports" has published the work of researchers of Fratagene Therapeutics, led by Dr. Alessandra Rufini, on the identification of a significant new therapeutic target for Friedreich's ataxia (FA). The study is in collaboration with researchers from the Department of Biomedicine and Prevention, University of Rome "Tor Vergata".

FA is a rare genetic neurodegenerative disease that affects children and young adults leading them gradually to disability. It is caused by a deficiency of frataxin. Only in the United States, Canada and Europe there are over 15 000 patients with FA, especially children and young adults, for which currently there is no approved therapy.

"The discovery of a new therapeutic target for Friedreich's ataxia - explains Dr Rufini, scientific director of Fratagene Therapeutics – ligase RNF126, an enzyme whose inhibition leads to an increase in frataxin levels in the cell of patients, opens the way to the possible development of a new class of drugs that could provide a hope of cure."

FRATAGENE THERAPEUTICS: from academia to industry

Fratagene Therapeutics is a biotech company founded by prof. Roberto Testi, director of the Laboratory of Signal Transdution at the Department of Biomedicine and Prevention, University of Rome "Tor Vergata", with the aim of attracting the necessary resources to the development of a cure for FA.

"Fratagene Therapeutics is a model for value creation from research results generated within the University - said prof. Testi - and it is an important part of a long-term, innovative research program developed by the group I lead, that has been funded by Telethon, by Friedreich's Ataxia Research Alliance USA (FARA) and by two grants of the European Research Council (ERC)”.

PROJECT FAST: TWO GRANTS FROM THE EUROPEAN RESEARCH COUNCIL

The European Research Council (European Research Council) funded in 2012 the "FAST" project, Friedreich's Ataxia Seeks Therapy, led by prof. Roberto Testi, an "Advanced Grant" for the innovative and unique approach in the search for a cure for FA. Subsequently, in 2015 the ERC has awarded prof. Testi a "Proof-of-Concept Grant", aimed at possible commercial development of new therapies designed thanks to the "FAST" project. The "PoC Grant", is a type of financing that was created to help researchers bridge the gap between Academia and Industry, providing them with the resources for the ultimate validation of the idea, the protection of intellectual property and the scouting of industrial partners.

The study in Cell Reports "E3 Ligase RNF126 Directly ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia"