Children born with a genetic disease have a right to a better life.


Fostering research that leads to cures for rare genetic diseases.


  • we prioritise diseases that, because they are so rare, are unlikely to attract considerable public or private investment;
  • we select Italy’s top researchers and the most promising projects;
  • we seek the involvement of all Italians in the battle against genetic diseases;
  • we provide those who assist us with information on how we invest the funds raised.

The road taken up by scientific research into cures is long, hard and costly. It begins with basic research in the laboratory. Then come the experiments. The final stage of research is clinical, when we try the therapies out on patients. Many of Telethon’s researchers dedicate years of their professional lives to the task of ensuring the efficacy and safety of therapies.

Every life is important.

Some of these rare genetic diseases await large-scale investment on the part of public or industrial players. They are “orphans”. They await research and drugs. Considered singly, these diseases are statistically insignificant. Can we say the same about the lives of any of our patients, as individuals?

Telethon shall exist until we write that word ‘curable’ next to the names of all genetic diseases!

Susanna Agnelli
Founder of Telethon


Great scientific discoveries must be for everyone.

We aim to transform into drugs and therapies the results of research of excellence, selected and backed up over time. We wish to make these drugs and therapies available to all patients worldwide. This vision has taken on concrete form over the last few years, thanks to innovative therapies that are attracting the attention of pharmaceutical groups in increasing numbers. We are committed to fostering teamwork among public and private health institutions to ensure that our work shall continue also after success is noted, in terms of scientific results. That success must then take on a concretely tangible form for each patient! 


Our daily labours are for them. Alongside our assistance to researchers, we provide patients with updated correct data on these diseases. We also provide them with contacts with various health provider centres and specialists. We build bridges among associations of patients.


We provide constant assistance to our institutes in Milan and Pozzuoli. We fund research of excellence in Italy and select the most promising projects on the basis of their merits. We forge strategic alliances to generate awareness of rare diseases.

Civil society

Together with Fondazione Telethon, every year, the citizenry, enterprises, the media and institutions invest time and resources in this enormous collective enterprise.


  • Ethicality: we work toward a greater quality of life for those who benefit from our research now and in the future, while fully respecting the needs of all stakeholders.
  • Transparency: we provide all stakeholders and partners with clear, correct information by means of which they may assess our approach.
  • Ongoing improvement: our aim is to improve our work constantly through open dialogue with others and by learning from success stories, to grow day after day.
  • Merit: we believe in a rigorous, competitive approach, since our aim is to reward talent and competence, and turn these opportunities to best account.

Arseniy, the little prince from Russia

Arseniy’s early life has been a string of infections, haemorrhages and allergy attacks. He has been hospitalised repeatedly and, furthermore, he must avoid the company of kids his own age. Hope came at last when a German doctor announced that he’d learned of an innovative therapy developed by colleagues at the Milanese institute, Istituto San Raffaele Telethon, headed by Prof. Luigi Naldini. After years of lab studies (made possible by the generosity of the Italians) the researchers discovered how to provide young Wiskott-Aldrich syndrome patients with a corrected version of the defective gene that caused the disease in the first place.