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Journal of Community Genetics

, Volume 10, Issue 1, pp 121–128 | Cite as

Clusters of genetic diseases in Brazil

  • Gabriela Costa Cardoso
  • Marcelo Zagonel de Oliveira
  • Vanessa Rodrigues Paixão-Côrtes
  • Eduardo Enrique Castilla
  • Lavínia Schuler-FacciniEmail author
Original Article

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

Genetic isolates Rumors Endogamy Congenital anomalies Rare diseases 

Notes

Funding information

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.

Supplementary material

12687_2018_369_MOESM1_ESM.docx (32 kb)
ESM 1 (DOCX 31 kb)
12687_2018_369_MOESM2_ESM.docx (29 kb)
ESM 2 (DOCX 29 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Gabriela Costa Cardoso
    • 1
  • Marcelo Zagonel de Oliveira
    • 2
  • Vanessa Rodrigues Paixão-Côrtes
    • 3
  • Eduardo Enrique Castilla
    • 4
    • 5
  • Lavínia Schuler-Faccini
    • 1
    • 5
    Email author return OK on get
  1. 1.Post-Graduate Course in Genetics and Molecular Biology, Institute of BiosciencesUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  2. 2.Advanced Visualization Laboratory (VIZLab)Universidade do Vale dos Sinos (UNISINOS)São LeopoldoBrazil
  3. 3.Biology Department, Biology InstituteFederal University of BahiaSalvadorBrazil
  4. 4.Latin American Collaborative Study of Congenital Malformations (ECLAMC)FIOCRUZ – GenéticaRio de JaneiroBrazil
  5. 5.National Institute of Population Medical Genetics (INAGEMP)Porto AlegreBrazil

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