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. 2019 Jan;10(1):121-128.
doi: 10.1007/s12687-018-0369-1. Epub 2018 Jun 2.

Clusters of genetic diseases in Brazil

Gabriela Costa Cardoso  1 , Marcelo Zagonel de Oliveira  2 , Vanessa Rodrigues Paixão-Côrtes  3 , Eduardo Enrique Castilla  4   5 , Lavínia Schuler-Faccini  6   7
Affiliations

Clusters of genetic diseases in Brazil

Gabriela Costa Cardoso et al. J Community Genet. 2019 Jan.

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.

Keywords: Congenital anomalies; Endogamy; Genetic isolates; Rare diseases; Rumors.

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Conflict of interest statement

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.

Figures

Fig. 1
Fig. 1
Distribution of rumors identified by CENISO. The figure was generated through software ArcGis 10®
Fig. 2
Fig. 2
The clusters identified by etiology shown in the subregions of Northeast. Note that Sertão subregion has the largest number of the clusters. The figure was generated through software ArcGis 10®
See this image and copyright information in PMC

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