On the occasion of Rare Disease Day 2023 , Tuesday 28 February at 10 am, the main hall of Palazzo Belgrano hosts the meeting "Rare diseases in Sardinia: present and future", organized by the University of Cagliari with the collaboration of the CcrMr and sponsorship of the 'Rare Diseases Observatory (Omar) and the Coordination of Sardinian Associations (CoReSar).
In Sardinia there are over 11 thousand Sardinians who suffer from it , according to data estimated by the Regional Coordination Center for Rare Diseases of the pediatric clinic of the "Microcitemico" hospital in Cagliari. Among these, more than 2,000 are children.
In Europe , a disease is considered rare when it does not exceed 0.05 percent of the population, i.e. no more than one case for every 2,000 people. To date, there are around 10,000 rare diseases diagnosed, a figure that is growing with the progress of genetic research. There are about 30 million cases in Europe, 2 million in Italy.
The Cagliari conference is aimed, after the limitations imposed for the Covid-19 pandemic, at taking stock of the current situation and discussing new ideas and projects for the near future together with the institutions, the university clinical world and patient associations .
«Rare diseases - the words of Professor Salvatore Savasta, professor of the Department of Medical Sciences and Public Health of the University of Cagliari and director of the Pediatric Clinic and Rare Diseases of the Pediatric and Microcitemic OP - are less rare than one thinks. The problem of diagnosis and assistance of young adults suffering from rare diseases and in particular from malformation syndrome or metabolic disease, has become more pressing and topical day by day . Epidemiological data tell us that the incidence in the pediatric age group of people with these conditions is now equal to 1,200 live births and in the last 20 years, thanks to better and targeted assistance, the survival of patients has significantly improved ».
