Efficacious therapies, diagnoses that people have been waiting for for years, and a better life for many of our patients.
Providing the answers required by patients with rare diseases and their families is anything but easy! Day after day, over a span of more than a quarter century, thanks to the support of millions of Italians, we have achieved many of our objectives. Unknown diseases that now have a name and surname. Families that are no longer alone when tackling diseases. Disabled persons who live a better life, day by day. Kids who can now look to the future with hope, thanks to the innovative therapies developed by Telethon researchers. These are successes of considerable importance, and we have good reason to be proud of them! But this is just the beginning…
Thanks to gene therapy − an innovative technique, that we placed our faith in ‘from the word go’, when setting up an institute dedicated to this field − many children are now receiving answers that were once entirely missing. We tested the efficacy of this treatment on a serious form of primitive immunodeficiency and came up with evidence regarding he treatment’s action on two other childhood diseases − metachromatic leukodystrophy and the Wiskott-Aldrich syndrome. We continue to develop and improve this revolutionary therapy in order to test it against other diseases.Learn more
Improving the living conditions of patients with neuromuscular diseases
Pharmaceuticals to relieve fatigue. Innovative physiotherapies to slow down the loss of muscle tonus. Next-generation mechanical supports. These are just a few of the answers we have for all neuromuscular patients, thanks to a competition announcement that we publish in order to further clinical treatment of patients awaiting new therapies.READ ON
The end of the tunnel
We responded to the calls made by families still awaiting therapies. They asked us to break down the wall of indifference that surrounds rare genetic diseases. Thanks to basic research, formerly mysterious diseases, strangers, now have a name and surname. Mechanisms that were once a complete mystery now reveal something of themselves. Basic research lies at the root of all the scientific knowledge we need to move on, toward tests and trials (cells, in vitro and then trials with human beings).LEARN MORE