Listening to, and empowering, those among us who won’t give up the fight against rare genetic diseases.

We have heard the voice of thousands of patients, crying out at last that hope exists! Our answers take the form of research − and the day-to-day commitment of our researchers. Thanks to our researchers, we have been able to identify and name diseases that had previously been unknown to us. In certain cases, we uncover the basic mechanisms of these diseases, and won’t stop until we write that word ‘curable’ next to the names of all genetic diseases!


  • We have funded more than 2,570 projects over the recent years in order to shed light on diseases that large public and private financial interests are generally reluctant to invest in.
  • This work has generated more than 10,000 acknowledged scientific results validated by publication in the leading journals catering to this sector.
  • The Telethon laboratories have studied as many as 475 genetic diseases over the last few years.
  • More than 451 million in funding – to make sure the fight goes on!
  • We have recruited about 1,600 researchers over the last few years. These are our true allies, whose work is dedicated to defeating these terrible diseases.

Our unflagging efforts directed toward funding the best research projects provide concrete hope for those among us who won’t give up the fight against a rare genetic disease. However, this must mean more than the day-to-day work − as we constitute ourselves as a valid point of reference for researchers in this field − of ensuring that our efforts meet with approval both in Italy and abroad. We must also listen to the patients themselves as they explain their needs. And this we do! We are at their side ‘when the going gets tough’. We provide them with the latest information and updates on the progress of research and on the places where treatments are available for these rare diseases.