Undiagnosed Diseases

Some genetic diseases are totally unknown. They are nameless. We do not understand the biological causes. Disregarded. We don’t know how they progress or whether a therapy can be found.


  • The project covers a three-year period. The aim is to discover the causes of genetic diseases present in an estimated 350-400 families selected by three centres.
  • Funded by Telethon (1.9 million Euros), the project is coordinated by the Istituto Telethon di Genetica e Medicina (Tigem) based in Pozzuoli, with the involvement of two clinical centres, the Ospedale San Gerardo in Monza and the Azienda Ospedaliera Universitaria “Federico II” in Naples.
  • Thanks to the partnership of the two clinical centres involved, the programme effectively opens up the path toward diagnosis. The centres are provided with access to leading-edge DNA sequencing technologies.
  • A dedicated web platform enables physicians to refer patients to the programme management team.
The rationale behind the project

Telethon saw a need and devised a programme (the only one of its kind in Italy) to respond to it.

Despite the best efforts of the medical and scientific community and despite the progress made in the field of DNA analysis, the causes of thousands of very rare genetic diseases remain a mystery. For these conditions, no diagnoses are available. Orphanet estimates that while there are 7500 known rare diseases (80% of which are of genetic origin), diagnostic tests are available only for about 4200. Telethon started up this programme in order to close this gap. The programme sees the involvement of two Italian medical genetics clinical centres (Ospedale San Gerardo in Monza and Azienda Ospedaliera Università Federico II in Naples) plus a research centre, the Istituto Telethon di Genetica e Medicina, based in Pozzuoli. This research centre has considerable experience in the field of Next Generation Sequencing. Diagnosis is the starting point for all sufferers from genetic diseases. Diagnosis means the disease acquires a name, which means we can find other similar cases worldwide. We can therefore deduce how the disease will progress. It also means more information on how to deal with the condition both on a day-to-day basis and when emergencies arise, while enabling us to adequately plan medical examinations.

General practitioners are the doorway to the programme. By accessing an online platform they can refer cases to the two clinical centres involved in the programme. Each case shall be closely assessed, and further information on them may be requested. The programme provides fresh hope for patients awaiting a diagnosis. Basing ourselves on the state of scientific knowledge today, our aim is to identify the genes responsible for conditions in about one third of the patients involved. However, the success rate may well rise over the years, through knowledge gained regarding new disease genes. Furthermore, the information obtained shall be stored on the project database. If answers emerge at a later date, after collating data internationally with those from other databases, we can then retrace our steps and further our knowledge even more.

Some genetic diseases are total unknowns. They are nameless. We do not understand the biological causes. Unstudied. We don’t know how they will progress or whether a therapy can be found.