Experts and Associations of patients at the conference for World Rare Diseases Day.
28 February 2018
PIAZZALE MENGHINI, 8/9 CREO AZIENDA OSPEDALIERA DI PERUGIA, PERUGIA
Hosted by Medical Genetic Service, Hospital of Perugia
On Wednesday 28th February, the Medical Genetic Service of the Perugia Hospital organizes, as every year, a conference attended by experts from important national centers and patient Associations. The event, hosted in the “Montalcini” conference hall of the CREO building, divided in two sessions, with speeches by Dr. Alessia Brunetti, Italian President of the Association "Fragile X Syndrome”, the second genetic cause of intellectual disability in the world and Dr. Daniela Segat of the "Mauro Baschirotto" Rare Diseases Association.
"The conference is proposed not only as a comparison between experts who adhere to a network indispensable for the care management of rare diseases, but also to draw the attention of institutions and media and to better understand the complex reality of Rare Diseases, that affect an increasingly number of patients " said Dr. Gabriela Stangoni, Head of Medical genetic Service of the Perugia Hospital.
The data estimate about one million of patients with Rare Diseases in Italy, and about 7 thousand patients in Umbria, the majority of whom are children and adolescents affected by genetic diseases.
Research is a source of hope after the diagnosis of serious pathologies, however an early diagnosis remains important for prevention of comorbidities and for general management of the patients and their families.