Clusters of genetic diseases in Brazil
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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.
KeywordsGenetic isolates Rumors Endogamy Congenital anomalies Rare diseases
Financial support was provided by the following agencies: INCT-INAGEMP; Ministry of Science and Technology/CNPq (grant no. 476978/2008-4); Coordination for the Improvement of Higher Education Personnel (CAPES).
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
Research involving human participants and/or animals
This article does not contain any studies with human participants or animals performed by any of the authors.
Data included here refer to identified human subpopulations in which all individual human subjects were anonymized at the initial registration phase. Brazilian legislation (Resolução CNS 466/2012) does not require IRB approval for data obtained from public databases, as is the case for CENISO.
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