There are thousands of such diseases. The names we give then are hard. But no harder than the problems of those affected.


In the world, every sixty seconds, ten children are born who will suffer from one of the more than six thousand rare genetic diseases that, to date, we know exist.

While the symptoms may occur at any time during our lives, 70% of these diseases emerge during the first five years. These diseases can strike at any organ and may threaten functions that are vital in our everyday lives. They often take the form of syndromes that affect more than one organ. In practically all cases, these diseases are terrible foes leading to enormous suffering among patients and their loved ones providing care. This is why we have taken up the challenge, and we are determined to leave no stone unturned.


  • Diseases affecting one patient per 2,000, 10,000, 100,000 individuals are unlikely to attract public or private investment. Our focus is on these diseases because all lives are important.
  • Too many diseases await a cure. For many, the diagnosis is beyond our reach.
  • It is unacceptable that a child should have no hope for the future.
  • Only by organising top class scientific research can we provide patients with the answers they need.
  • By conducting innovative research, pharmaceutical companies are more likely to take a second look… even at rare diseases

People struggling against rare diseases take on tasks every day that have something miraculous about them. It takes innate courage. We must let them know there are many out there at their side. They must trust in research. Help us strengthen our patients’ hands!

We target rare genetic diseases.

These diseases have terrible names. Sometimes they are even nameless. They generally emerge while the patient is still a child, and change the lives of all concerned. These are rare diseases. Few people are vulnerable to them. We combat precisely these diseases because all patients have a right to hope. These diseases, these emergencies, regard 6-8% of the world’s population.


When the research is innovative, it draws people’s attention even to diseases such as these.

Because of the lack of investment in research, we are still unfamiliar with the causes or mechanisms of most of the rare genetic diseases scientifically known to exist. Telethon-funded research innovates the field, bringing with it results that may become therapies and drugs.