Some genetic diseases are totally unknown. Diagnosis is the starting point for anyone with a genetic disease. Its 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 in an emergency, while enabling us to adequately plan medical examinations.   

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Despite numerous efforts by the medical and scientific community and progress made in the field of DNA analysis, the causes of thousands of very rare genetic diseases remain a mystery. No diagnoses are available. 

So we decided to launch a programme for undiagnosed diseases in order to close this gap.  The programme involves an Italian network of paediatric centres plus a research centre, the Telethon Institute of Genetics and Medicine, in Pozzuoli. 

58 diagnosis made
228 sequenced cases
2.200.000 million invested

The project in brief

  • Funded by Telethon, the project is coordinated by the Telethon Institute of Genetics and Medicine (Tigem) in Pozzuoli, and involves an Italian network that comprises 14 paediatric clinical centres: Policlinico Bari; Istituto Neurologico Carlo Besta (Milano); Policlinico Vittorio Emanuele (Catania); Istituto Giannina Gaslini (Genova); Ospedale Pediatrico Anna Meyer (Firenze); Ca' Granda Ospedale Maggiore Policlinico (Milano); Fondazione Monza e Brianza per il Bambino e la sua Mamma (Monza); Ospedale Sant'Anna (Como); Napoli Federico II; Associazione Oasi Maria Ss. Onlus (Troina ); La Sapienza Università di Roma; Santobono Pausilipon (Napoli); Università Vanvitelli (Caserta); Università Cattolica del Sacro Cuore (Roma).
  • The project, launched in 2016, aims is to discover the causes of genetic diseases found in an estimated 350-400 families who have been selected by the clinical centres. 
  • 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.
  • Informations obtained from patients will be stored in the project database and answers may be found at a later date, after collating data internationally with those from other databases. 
DNA sequencing

Join the programme

General practitioners could refer cases via online platform:

  1. Please request access code by clicking on the botton below “Request access to the programme”. 
  2. Once you received username e password on your email click on the botton "Login". 
  3. Fill in the patient card with his personal and anamnestic data.

If you're aleady have access code, please login

*Patients cannot apply for the programme.

Salvatore knows the name of his disease (GRIN2B) thanks to Telethon Programme.

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