Rare Diseases: Current perspectives and the future - The Debate
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This time, the meeting takes place within the framework of World Rare Disease Day, celebrated on 29th of February, but we challenge you to participate on the 27th, between 3pm and 4 pm, in the debate coordinated by Doctor Luís Brito Avô , Head of Sector of Medicine 1D at Centro Hospitalar Universitário Lisboa Norte (CHULN) and also Founder and Coordinator of the Center for the Study of Rare Diseases (NEDR), of the Portuguese Society of Internal Medicine (SPMI). Internist, Brito Avô understands that it is this interdisciplinary view of several areas that best allows to identify a potential carrier of Rare Diseases.

But what is considered a Rare Disease?

“In the European concept, it is understood that a rare disease occurs in 1 case per 2 thousand inhabitants. In Portugal alone, 8 thousand different diseases are identified, in a total of 700 thousand carriers of Rare Diseases ”. Mostly explained by genetic causes, the great expression (60-70%) occurs in pediatric age, with a very significant mortality rate, being one of the main causes of death in this age group. However, about 30% of patients reach adulthood and there are even some attenuated forms that are only expressed in adults. It is also known that many of these diseases are disabling.

Several questions then arise in this debate articulated by Luís Brito Avô and whose guests embrace the most diverse areas of intervention. What solutions are there to treat these patients? What common patterns can all of them have that identify them more quickly? What investments does the State have in mind for this area? Can science alongside genetics advance in the search for new and more effective drugs? And what time of quality of life will these people have?

Because it is health that unites us, let's talk about it, in a single click! To register, just send an email to webinar@medicina.ulisboa.pt and wait for confirmation.