Human and medical genetics in Brazil

Abstract

The present paper intends to be a brief historical analysis of the conditions for the development of Human and Medical Genetics in Brazil.

Genetics and genomics in Brazil: a promising future

“…Medical Genetics has a recent history in Brazil and started out as a research program in Human Genetics during the 1950s, mainly by a shift in work of Brazilian scientists from genetic studies conducted on drosophila melanogaster to this new emerging field of research, following a worldwide tendency (Otto and Frota-Pessoa 1975 ; Beiguelman 2000 ). The Department of Biology, currently Department of Genetics and Evolutionary Biology, at the Institute of Biosciences, University of São Paulo, was one of the main pioneers in this field, followed by other initiatives at the Federal Universities at Rio Grande do Sul and Paraná (Otto and Frota-Pessoa 1975 ; Beiguelman 2000 ). The importance of genetics was recognized by the medical community only as of the 60 and onward, after the advent of human cytogenetics, and with the introduction of Genetics as a subject in a few medical schools (Beiguelman 2000 ).…”

“…The Department of Biology, currently Department of Genetics and Evolutionary Biology, at the Institute of Biosciences, University of São Paulo, was one of the main pioneers in this field, followed by other initiatives at the Federal Universities at Rio Grande do Sul and Paraná (Otto and Frota-Pessoa 1975 ; Beiguelman 2000 ). The importance of genetics was recognized by the medical community only as of the 60 and onward, after the advent of human cytogenetics, and with the introduction of Genetics as a subject in a few medical schools (Beiguelman 2000 ). Nevertheless, Medical Genetics still is regarded as an optional discipline in many medical schools in Brazil.…”

3 Tesla MRI detects accelerated hippocampal volume reduction in postmenopausal women

“…Community Genetic Services are concentrated in the south of Brazil and have been developed by biologists and physicians in few university centres (Beiguelman,2000; Marques‐de‐Faria et al,2004). The public health system has hardly sponsored services of medical genetics in Northeastern Brazil and an accurate specific diagnosis is usually missing (Horovitz et al,2006; Marques‐de‐Faria et al,2004; Novoa and Burnham,2011).…”

A ancestralidade de populações do Nordeste brasileiro com elevadas frequências de casamentos consanguí­neos e prevalência de doenças genéticas raras

“…Para se calcular o coeficiente médio de endocruzamento por genealogias, há a metodologia clássica que é a contagem de passos genéticos contidos em cada genealogia (BEIGUELMAN, 2000). O passo genético é a passagem de um gene de uma geração a outra, correspondendo à probabilidade de um dos dois alelos de um loco diploide ser transmitido ao indivíduo da geração seguinte (taxa de segregação com valor ½).…”