ITALY – Telethon Foundation program “diseases without diagnosis” is a unique project in Italy for three years funded with 1.9 million Euros after careful consideration of the scientific medical commission.

Today, despite the efforts of the medical community and research progress, there are still thousands of rare genetic diseases with unknown causes.  Many families with children having genetic disorder live in the uncertainty of not even being able to give a name to the disease. They do not know how they evolve and therefore cannot access any drug or experimental treatments in development.

Hence the need to create a dedicated project with which Telethon confirms its mission: to offer hope to those suffering from a genetic disease because of its rarity tends to be neglected by public and private investment.

The program is designed for pediatric patients and aims to identify the genetic cause in estimated 100-120 cases. Lucia Monaco, scientific director of the Telethon Foundation, comments: “We decided to support this project by drawing on similar paths internationally.  To maximize the probability of success and give a diagnosis to as many patients as possible the project also provides for the sharing of data with international programs such as for example the ‘Undiagnosed Diseases Network of the US National Institutes of Health.  Of course, the results also allow the start of searches on the identified diseases, with the goal of finding cures and therapies for patients suffering “.

The program combines the expertise of three clinical centers for medical genetics, the Bambino Gesù Hosptial in Rome, the San Gerardo Hospital in Monza MBBM-Foundation, the University Hospital Federico II of Naples and a research center, Telethon Institute of Pozzuoli (Tigem), the consolidated experience in next-generation sequencing technologies (NGS Next Generation Sequencing).

How does the program “diseases without diagnosis” work?

Patients who wish to access the program can do it via referral from their physician, who will log in to the portal and after obtaining the credentials will compile a “patient card” accompanied by the results of specialized tests. After an initial assessment of patients considered to bootable diagnostic program will be called for a visit to one of the three centers.

In some cases, the single visit and any in-depth examinations, thanks to the joint evaluation of most experts, could lead to a diagnosis.  If this fails, the patients will be selected to start the genetic analysis by sequencing.

Priority will be given to the most serious situations, or more complicated, the age of disease onset and the patient’s family history.

Genetic analysis

Genetic analysis will be through next-generation sequencing (NGS Next Generation Sequencing).  These technologies are in a phase of rapid development, with instruments that in the last nine years have become more than a million times powerful, fast and relatively less expensive.  Just think that, by comparison, the historic Human Genome Project made with the previous generation sequencing, took 10 years and $ 3 billion to read the DNA of a single man.  With the NGS, however in the world have already been studied tens of thousands of DNA samples of patients, identifying more than 500 disease genes were previously unknown.

Researchers can analyze with high precision throughout the coding portion of DNA, called exome, the set of all genes are translated into proteins (Whole exome Sequencing) 350-400 patients with unknown genetic diseases and their families, for a total of approximately 1300 individuals.