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Clusters of genetic diseases in Brazil
Gabriela Costa Cardoso1, Marcelo Zagonel de Oliveira2, Vanessa Rodrigues Paixão-Côrtes3
1Post-Graduate Course in Genetics and Molecular Biology, Institute of Biosciences, Universidade Federal do Rio Grande do Sul, Bento Gonçalves Avenue, 9500, Porto Alegre, RS, 91501-970, Brazil.
Abstract:
The aim of this paper is to present a database of isolated communities (CENISO) with high prevalence of genetic disorders or congenital anomalies in Brazil. We used two strategies to identify such communities: (1) a systematic literature review and (2) a "rumor strategy" based on anecdotal accounts. All rumors and reports were validated in a stepwise process. The bibliographical search identified 34 rumors and 245 rumors through the rumor strategy, and 144 were confirmed. A database like this one presented here represents an important tool for the planning of health priorities for rare diseases in low- and middle-income countries with large populations.
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