FAQs about Undiagnosed Diseases Programme

We mean it is an unknown genetic disease. It has no name. There is no known biological cause. No one has studied it. So, we do not know how it will progress or whether there is a cure. No genetic tests are available and we cannot say whether there will be other cases within the family in which it has appeared.

Diagnosis is the starting point for anyone with a genetic disease. 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 having 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.

If we can name a gene, many more openings become available to us. We can find a genetic test for the family. We can study that gene, see how it works, and find an experimental model. Lastly, but no less importantly, genetic diagnosis is a psychological anchor for patients and their families. It means they are no longer totally alone. They no longer have to bear the burden of being ‘the rarest among the rare’.

The programme is for children and youngsters (up to 18 years old) with a serious unknown genetic disease, including multiple malformations of various organs and apparata, suspected congenital errors of metabolism, neurological or neuromuscular diseases, syndromic intellectual disability, and syndromic sight or hearing defects unaccompanied by other conditions.

The programme does not target people with no genetic disease, people with widespread diseases which are in part genetic (e.g. schizophrenia, autism, growth retardation, multiple sclerosis, neoplastic diseases, diabetes, epilepsy etc.), patients with chromosomal abnormalities, patients with diseases associated with old age or with only intellectual disability, and patients with a well-known genetic disease but without a complete laboratory diagnosis.

A paediatrician, geneticist or specialist treating the patient can contact Telethon to request that the disease be studied. When the request has been made, the physician must log into the project site and fill in a brief online form. Within 60 days, the patient will receive a reply from the specialists at the three centres (the Bambino Gesù Children’s Hospital in Rome, the San Gerardo Hospital in Monza and the “Federico II” University Hospital in Naples).

If the disease cannot be studied as part of the programme, another medical centre may be indicated as appropriate. If the answers provided in the form point to the suspected presence of an unknown genetic disease, the physician will be asked to provide further information, or the patient will be called to one of the three centres involved in the programme to undergo a medical examination.

For the purposes of this initial pilot programme we expect to analyse the exome of some 1,500 individuals, representing 350-400 families. Given our current knowledge base, we expect to identify the causal genes in at least 25-35% of isolated cases (in patients with no familial history) and in at least 40% of familial cases, and thus expect to resolve a total of 100-120 cases. However, the success rate may well rise over the years, as we gain more knowledge about new disease genes. Furthermore, the information obtained will be stored in the project database and answers may be found at a later date, after collating data internationally with those in other databases.

Access to the programme will always require informed consent. The family and their physician will receive the results of the tests in person, during a meeting. The samples will be stored so that they can be re-analysed at a future date (again, of course, provided the family agrees to this).