Rare Diseases, steps forward thanks to European diagnosis and treatment networks

It occurs on February 28 the World Rare Disease Dayor Rare Disease Day, established in 2008 to raise awareness of this type of pathology and for improve access to care for patients who suffer from it.

According to the Orphanet Italia network, in ours village the rare sufferers are about 2 million, in 70% of cases they are pediatric patients. The number of known and diagnosed rare diseases it oscillates instead between 7,000 and 8,000a number destined to grow with the advancement of science and, in particular, with the progress of genetic research.

What is meant by rare diseases?

A disease is defined as rare when it occurs in 5 cases out of 10,000 people. The problems faced by patients affected by these pathologies are many, starting with difficulty getting a diagnosis and adequate treatment.

In addition to being rarely found, these diseases can in fact present different symptoms and manifestations from person to person and therefore be even more difficult to diagnose and treat.

According to estimates by We combine– Italian Federation of Rare Diseases, the mean time to diagnosis and of 4 years, but it can go up to 7.

European Reference Network: the “virtual” networks of diagnosis and treatment

For this an important role is played by ERN – European Reference Network – virtual networks involving healthcare professionals across Europe, with the aim of sharing knowledge on rare diseases and pathologies that require highly specialized care through teams of specialists and advanced technologies. At the basis of the European Reference Network project a “virtual” health care model: thanks to these networks, in fact, to travel is the scientific skills and not the patient.

The ERN networks active in Europe are 24divided by groups of pathologies or conditionsi, such as pediatric tumors and transplants, rare neurological, cardiac, respiratory, immunological but also bone or dermatological diseases. In 2017, the year in which the specialized structures involved in the various ERNs were established by the Council of Member States there were about 900 but from 1 January 2022, the Centers of Excellence they have become over 1,500, with 620 new members, most of which in Italy. With 63 hospitals, all pertaining to the National Network for Rare Diseases, our country in fact it participates in 23 of the 24 networks and coordinates 3.

The Italian institutes of excellence

An important role is played by the Milan Polyclinic that thanks to its professionals this year doubles its leadership with the participation in 15 European networksthus placing itself as a fundamental scientific reference point for rare diseases.

The team of the Polyclinic of Milan consists of 90 specialists, belonging to 28 different departments, who deal with over 330 rare diseases.

In fact, the new ERN networks of which the Polyclinic is part include rare oncological and non-oncological endocrinological diseases, rare liver diseases, rare, hereditary and congenital anomalies, which involve the digestive and gastrointestinal systems, the diaphragm and the abdominal wall, genetic syndromes of predisposition to tumors, rare hereditary metabolic diseases and rare immunological diseases.