Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil.

ABSTRACT: Rare diseases include 6,000-8,000 different conditions, over 70% of them having a genetic cause. Most cases have early manifestations (in childhood and adolescence), and just a small fraction (around 5%) has specific therapies available. Nevertheless, appropriate management measures contribute to improve the quality of life of patients and families. They affect up to 3.5-5.9% of the world's population and are recently attracting attention from international agencies such as the United Nations and the World Health Organization. In Brazil, a condition is considered rare when there are no more than 65 people affected in each 100,000 inhabitants and it is estimated that around 12 million people in the country may present one of these conditions, which represents a significant burden to the fam

SUBMITTER: Giugliani R 

PROVIDER: S-EPMC12321710 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature