[No Title Available]

Abstract

Here we propose a registration process for population genetic isolates, usually geographic clusters of genetic disorders, based on the systematic search of rumors, defined as any type of account regardless of its reliability. Systematically ascertained rumors are recorded, and validated through a progressive process of pre-established steps. This paper outlines the conceptual basis for this approach and presents the preliminary results from a rumor-based nationwide registry of genetically isolated populations, named CENISO (Censo Nacional de Isolados), operating in Brazil since 2009. During the first four years of its existence (2009–2013), a total of 191 Rumors were registered and validated, resulting in a prevalence rate of one per million inhabitants of Brazil. When the five statutory geographic regions of Brazil were considered, more Rumors were registered for the Northeast (2.11; 1.74–2.54 per 106) than for the remaining four regions, North, Center-West, Southeast, and South, which did not differ among themselves. About half (86/191) of the recorded rumors were proven to be geographic clusters; of these disorders, 58 were autosomal recessive, 17 autosomal dominant, 5 X-linked, 3 multifactorial, and one environmental (thalidomide embryopathy).

Evolutionary genomic dynamics of Peruvians before, during, and after the Inca Empire

“…S11 and S12 ), it is likely that there is an enrichment of rare genetic diseases unique to these groups. While this is a pattern observed worldwide and has been extensively documented in isolated Old World populations ( 65 ), the diseases that may increase in frequency as the product of these phenomena of isolation are likely to be population-specific and should be systematically documented and addressed by the Peruvian health system based on other Latin American experiences ( 72 ) and can add to the growing number of studies finding new insights into biology through analysis of isolated populations. Further, the finding that few ClinVar ( 67 ) variants are present in Native American ancestry populations also stresses that these populations are underrepresented in genome studies and demands more sequencing efforts.…”

Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline

“…• The study of genetically isolated populations with chronic endemic diseases of a genetic cause, in addition to molecular characterization, allows the determination of the origin of the conglomerate, contributing to the reconstruction of the history of the population, but must also contribute to the evaluation of the needs of prevention and health and psychosocial care (Castilla & Schuler-faccini, 2014).…”

“…However, we have notified local health authorities and the national epidemiological surveillance system about the situation and have been proposing alternatives of intervention with a comprehensive approach that includes multidisciplinary care and an approach to the psychosocial problems that affect this population. Work is underway to set up a reference center for managing FXS at the Hospital Universitario del Valle, with exceptional care for Ricaurte's patients. The study of genetically isolated populations with chronic endemic diseases of a genetic cause, in addition to molecular characterization, allows the determination of the origin of the conglomerate, contributing to the reconstruction of the history of the population, but must also contribute to the evaluation of the needs of prevention and health and psychosocial care (Castilla & Schuler‐faccini, 2014). …”

Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)

“…Their results show that Brazil has one cluster of high consanguinity rates (1.59%) in the Southeast region of the country; and two clusters of medium consanguinity rates (0.76 and 1.22%) in the Northeast and South regions, respectively [34]. Another study reported finding several genetic isolates in different cities across the Southeast region, such as spinocerebellar ataxia type 1 in São Paulo and spinocerebellar ataxia type 3 in Rio de Janeiro [35]. These data corroborate the findings of the present study, in which the highest IEM-related infant mortality rates during the period of analysis were reported in the South and Southeast regions.…”