Clusters of genetic diseases in Brazil

Clusters of genetic diseases in Brazil 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 Brumor 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 Introduction Wakefield 2001). There are a variety of populations around the world with a high prevalence of either Mendelian Genetic isolates (monogenic) disorders or oligogenic diseases dominated by the effects of a major gene. These disease clusters can be due A disease cluster can be defined as an area and/or period of time to geographical, cultural, religious, or even linguistic isolation where the prevalence of a particular disease is high, that is, (Zlotogora 2007). where the number of cases exceeds expectations (Elliot and In http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Community Genetics Springer Journals

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Publisher
Springer Journals
Copyright
Copyright © 2018 by Springer-Verlag GmbH Germany, part of Springer Nature
Subject
Biomedicine; Human Genetics; Public Health; Epidemiology; Gene Therapy; Gene Function
ISSN
1868-310X
eISSN
1868-6001
D.O.I.
10.1007/s12687-018-0369-1
Publisher site
See Article on Publisher Site

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 Brumor 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 Introduction Wakefield 2001). There are a variety of populations around the world with a high prevalence of either Mendelian Genetic isolates (monogenic) disorders or oligogenic diseases dominated by the effects of a major gene. These disease clusters can be due A disease cluster can be defined as an area and/or period of time to geographical, cultural, religious, or even linguistic isolation where the prevalence of a particular disease is high, that is, (Zlotogora 2007). where the number of cases exceeds expectations (Elliot and In

Journal

Journal of Community GeneticsSpringer Journals

Published: Jun 2, 2018

References

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