On Friday 2 December 2016, at the Hemato-Oncological Research Center (CREO), Rita Levi Montalcini room, of the S. Maria della Misericordia Hospital in Perugia, a conference will be held on the theme “Assistance and Research on rare diseases in Umbria”, in which – in addition to the health workers of all the structures concerned – also patients and their families will participate.
The event, the first of a series dedicated to Rare Diseases, was organized by the simple departmental structure of Neonatology and Prenatal Diagnosis of the Hospital of Perugia and by the Rare Diseases Association “Mauro Baschirotto” Onlus of Vicenza, founder of the Institute for Rare Diseases BIRD and of the homonymous Foundation.
Scientific director and coordinator of the program is Dr. Gabriela Stangoni, head of Neonatology and Prenatal Diagnosis and of the Neonatal Intensive Care Unit of the Perugia Hospital.
The issue of ‘Rare Diseases’ is a sore point not only for our national health system, but more generally – for health organizations worldwide. In fact, these diseases, by the very fact of being defined as ‘rare’, are not considered a real emergency and are relegated to the last positions of interest for large national and international research structures. But … in reality, the so-called ‘rare’ patients are anything but few … In fact, it is estimated that in Europe there are about 30 million people affected by rare diseases,
OF WHICH 1.5 MILLION IN ITALY.
In Umbria there are almost 5,000 patients; the frequency in this region is about 1/220 inhabitants; this means that these diseases – taken individually – are rare, but as a whole they represent a real emergency and a real socio-health challenge.
As Dr. Stangoni states: “80% of rare diseases are attributable to genetic causes and there are aids in charge of clinical-genetic diagnosis, certification, and the definition of care pathways. Diagnosis is an essential starting point, with the subsequent involvement of various specialists for prevention and possible treatments “.
The conference will be attended by experts from the Perugia Hospital and from the main Italian centers that have been dealing with rare diseases for years.
Profs. Giuseppe and Anna Baschirotto, founders of the Institute for Rare Diseases B.I.R.D (Baschirotto Institute for Rare Diseases).
“The” Mauro Baschirotto “BIRD Institute for Rare Diseases, which has an agreement with the National Health System, offers specific answers to patients suffering from little-known diseases, carries out diagnostic activities for about 190 pathologies, thus satisfying the diagnostic needs of many Hospitals and Structures Italian and foreign health … “- says Prof Giuseppe Baschirotto -” … and we also carry out an action of solidarity at an international level by offering free diagnostics for 45 nations not yet able to perform specific genetic tests “.
At a national level, the important role of scientific support that the Association has offered to universities, hospitals and private entities has resulted in agreements and collaborations for diagnostics and research, both in the field of rare and common forms. Of particular importance is the collaboration recently perfected with the Umbrian health structures (specifically with the Santa Maria della Misericordia Hospital in Perugia), which will allow a better approach to the numerous cases of rare diseases in our Region and throughout Central Italy.
Precisely as a result of these developments, and with a view to being closer to rare patients in Central Italy, the birth of an Umbrian Section of the “Mauro Baschirotto” Association of Rare Diseases – based in Terni, Corso Tacitus – who will take care of relations with patients and their families and with health facilities, also promoting a specific awareness-raising activity on the issue of Rare Diseases in the area. The contact person for the Umbrian office will be Dr. Lino Perazzo from Terni.