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Clusters of genetic diseases in Brazil

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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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Funding

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).

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Authors and Affiliations

  1. Post-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

    Gabriela Costa Cardoso & Lavínia Schuler-Faccini

  2. Advanced Visualization Laboratory (VIZLab), Universidade do Vale dos Sinos (UNISINOS), Unisinos Avenue 950, São Leopoldo, RS, 93020-190, Brazil

    Marcelo Zagonel de Oliveira

  3. Biology Department, Biology Institute, Federal University of Bahia, Barão de Jeremoabo Street 147, Campus Ondina, Salvador, BA, 40170-115, Brazil

    Vanessa Rodrigues Paixão-Côrtes

  4. Latin American Collaborative Study of Congenital Malformations (ECLAMC), FIOCRUZ – Genética, Brasil Avenue 4365, Pav. L. Deane, room 617, Rio de Janeiro, RJ, 21040-900, Brazil

    Eduardo Enrique Castilla

  5. National Institute of Population Medical Genetics (INAGEMP), Ramiro Barcelos Street, 2350, room 21506, Porto Alegre, RS, 90035-90, Brazil

    Eduardo Enrique Castilla & Lavínia Schuler-Faccini

Authors
  1. Gabriela Costa Cardoso
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  2. Marcelo Zagonel de Oliveira
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  3. Vanessa Rodrigues Paixão-Côrtes
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  4. Eduardo Enrique Castilla
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  5. Lavínia Schuler-Faccini
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Corresponding author

Correspondence to Lavínia Schuler-Faccini.

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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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Cardoso, G.C., de Oliveira, M.Z., Paixão-Côrtes, V.R. et al. Clusters of genetic diseases in Brazil. J Community Genet 10, 121–128 (2019). https://doi.org/10.1007/s12687-018-0369-1

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  • DOI: https://doi.org/10.1007/s12687-018-0369-1

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