RESUMO
This paper focuses on geneticists Salvador Armendares's and Rubén Lisker's studies from the 1960s to the 1980s, to explore how their work fits into the post-1945 human biological studies, and also how the populations they studied, child and indigenous, can be considered laboratories of knowledge production. This paper describes how populations were considered for different purposes: scientific inquiry, standardization of medical practices, and production or application of medicines. Through the narrative of the different trajectories and collaborations between Armendares and Lisker, this paper also attempts to show the contact of their scientific practices, which brought cytogenetics and population genetics together at the local and global levels from a transnational perspective.
Assuntos
Genética Populacional/história , Genética Humana/história , Povos Indígenas/história , Erros Inatos do Metabolismo dos Carboidratos/história , Criança , Citogenética/história , Deficiência de Glucosefosfato Desidrogenase/história , História do Século XX , Humanos , Povos Indígenas/genética , Cariotipagem/história , Lactase/deficiência , Lactase/história , MéxicoRESUMO
Abstract This paper focuses on geneticists Salvador Armendares's and Rubén Lisker's studies from the 1960s to the 1980s, to explore how their work fits into the post-1945 human biological studies, and also how the populations they studied, child and indigenous, can be considered laboratories of knowledge production. This paper describes how populations were considered for different purposes: scientific inquiry, standardization of medical practices, and production or application of medicines. Through the narrative of the different trajectories and collaborations between Armendares and Lisker, this paper also attempts to show the contact of their scientific practices, which brought cytogenetics and population genetics together at the local and global levels from a transnational perspective.
Resumo Aborda o trabalho dos geneticistas Salvador Armendares e Rubén Lisker, entre 1960 e 1980, para analisar como se insere nos estudos biológicos humanos do pós-1945, e demonstra como as populações estudadas por eles, a infantil e a indígena, podem ser consideradas laboratórios de produção de conhecimento. O artigo revela como as populações foram consideradas para diversos propósitos: investigação científica, padronização das práticas médicas e produção ou aplicação de suas medicinas. Por meio da narrativa das diferentes trajetórias e colaborações entre Armendares e Lisker, também procura discutir o contato de suas práticas científicas, que colocaram a citogenética e a genética de populações lado a lado nos níveis local e global a partir de uma perspectiva transnacional.
Assuntos
Humanos , Criança , História do Século XX , Genética Humana/história , Povos Indígenas/história , Genética Populacional/história , Erros Inatos do Metabolismo dos Carboidratos/história , Citogenética/história , Lactase/deficiência , Lactase/história , Povos Indígenas/genética , Deficiência de Glucosefosfato Desidrogenase/história , Cariotipagem/história , MéxicoAssuntos
Cromossomos Humanos/genética , Citogenética/tendências , Dosagem de Genes , Bandeamento Cromossômico/história , Anormalidades Congênitas/genética , Citogenética/história , Ética Médica , Feminino , Rearranjo Gênico , Variação Genética , História do Século XX , História do Século XXI , Humanos , Recém-Nascido , Síndrome de Klinefelter/diagnóstico , Masculino , Metáfase , National Institutes of Health (U.S.) , Análise de Sequência com Séries de Oligonucleotídeos , Estados UnidosRESUMO
Most historians of science and medicine agree that medical interest in genetics intensified after 1930, and interest in the relationship of radiation damage and genetics continued and expanded after World War II. Moreover, they maintain that the synthesis and convergence of human genetics and cytological techniques in European centers resulted in their dissemination to centers in the United States, resulting in a new field of expertise focused on medicine and clinical research, known as cytogenetics. In this article, we broaden the scope of the inquiry by showing how the early histories of cytogenetics in Canada and Mexico unfolded against strikingly different backgrounds in clinical research and the delivery of health care. We thus argue that the field of cytogenetics did not emerge in a straightforward manner and develop in the same way in all countries. The article provides a brief background to the history of human cytogenetics, and then outlines key developments related to the early adoption of cytogenetics in Canada and Mexico. Conclusions are then drawn using comparisons of the different ways in which local determinants affected adoption. We then propose directions for future study focused on the ways in which circuits of practices, collaborative research, and transfers of knowledge have shaped how cytogenetics has come to be organised in medicine around the world.
Assuntos
Citogenética/história , Canadá , História da Medicina , História do Século XX , Humanos , MéxicoRESUMO
The transnational approach of the science and technology studies (S&TS) abandons the nation as a unit of analysis in order to understand the development of science history. It also abandons Euro-US-centred narratives in order to explain the role of international collaborative networks and the circulation of knowledge, people, artefacts and scientific practices. It is precisely under this perspective that the development of genetics and radiobiology in Mexico shall be analyzed, together with the pioneering work of the Mexican physician-turned-geneticist Alfonso León de Garay who spent two years in the Galton Laboratory in London under the supervision of Lionel Penrose. Upon his return de Garay funded the Genetics and Radiobiology Program of the National Commission of Nuclear Energy based on local needs and the aim of working beyond geographical limitations to thus facilitate the circulation of knowledge, practices and people. The three main lines of research conducted in the years after its foundation that were in line with international projects while responding to the national context were, first, cytogenetic studies of certain abnormalities, and the cytogenetics and anthropological studies of the Olympic Games held in Mexico in 1968; second, the study of the effects of radiation on hereditary material; and third, the study of population genetics in Drosophila and in Mexican indigenous groups. The program played a key role in reshaping the scientific careers of Mexican geneticists, and in transferring locally sourced research into broader networks. This case shows the importance of international collaborative networks and circulation in the constitution of national scientific elites, and also shows the national and transnational concerns that shaped local practices.
Assuntos
Citogenética/história , Drosophila/genética , Genética Populacional/história , Indígenas Norte-Americanos/genética , Radiobiologia/história , Animais , História do Século XX , Humanos , MéxicoAssuntos
Citogenética/história , Animais , Cromossomos Humanos , História do Século XX , Humanos , UruguaiRESUMO
Com base em entrevista com José Carlos Cabral de Almeida, o artigo aborda a investigação que culminou no estabelecimento da etiologia genética da síndrome de Turner. Além de discutir especificamente esse processo, do qual fez parte, o entrevistado discorre sobre outros trabalhos que, em sua avaliação, marcaram as origens da citogenética. O artigo apresenta ainda a visão atual de Cabral sobre o desenvolvimento da genética clínica e a importância da citogenética em prover meios mais precisos de diagnose, prognóstico e controle das doenças genéticas. A conclusão aponta os trabalhos referidos como pioneiros e, até hoje, relevantes para a genética médica, especialmente no estudo dos cromossomos humanos, aspecto ainda fundamental para o sucesso da correlação de genética humana e processos de adoecimento.(AU)
Assuntos
Criança , História da Medicina , Síndrome de Turner/etiologia , Síndrome de Turner/genética , Síndrome de Turner/história , Genética Médica/história , Citogenética/história , BrasilRESUMO
This is an overview of the past, present and future of human Cytogenetics in Costa Rica. It started in 1965 at the University of Costa Rica where it has been developed slowly but steadily. There is only one overloaded clinical cytogenetic laboratory in the social security system. The tests currently performed are peripheral blood and blood marrow karyotypes, prenatal cytogenetic diagnosis (amniotic fluid and fetal blood) and less frequently skin biopsies. The task now is to standardize molecular cytogenetic techniques, we are actually working with PRINS in order to study submicroscopic subtelomeric rearrangements associated with mental retardation and other microdeletion syndromes as well.
Assuntos
Humanos , Recém-Nascido , Criança , Adolescente , Adulto , História do Século XX , História do Século XXI , Citogenética/história , Citogenética/tendências , Técnicas de Diagnóstico Molecular/história , Técnicas de Diagnóstico Molecular/tendências , Citogenética/métodos , Costa Rica , Técnicas de Diagnóstico Molecular/métodosRESUMO
This is an overview of the past, present and future of human Cytogenetics in Costa Rica. It started in 1965 at the University of Costa Rica where it has been developed slowly but steadily. There is only one overloaded clinical cytogenetic laboratory in the social security system. The tests currently performed are peripheral blood and blood marrow karyotypes, prenatal cytogenetic diagnosis (amniotic fluid and fetal blood) and less frequently skin biopsies. The task now is to standardize molecular cytogenetic techniques, we are actually working with PRINS in order to study submicroscopic subtelomeric rearrangements associated with mental retardation and other microdeletion syndromes as well.
Assuntos
Citogenética/história , Citogenética/tendências , Técnicas de Diagnóstico Molecular/história , Técnicas de Diagnóstico Molecular/tendências , Adolescente , Adulto , Criança , Costa Rica , Citogenética/métodos , História do Século XX , História do Século XXI , Humanos , Recém-Nascido , Técnicas de Diagnóstico Molecular/métodosRESUMO
The classical Mendelian genetics forged the development of biomedical sciences in the twentieth century. However, the classical works that allowed the sequencing of human genoma, have not received the recognition that they deserve. The author does a historical revision of works, considered classic in genetics and its specialties such as cytogenetics, biochemical genetics, immunogenetics and molecular genetics, published between 1990 and 1999. Authors that received the Nobel Prize are identified and the works are sorted in chronological order. Most founders of genetics specialties, have not received the Nobel Prize. Only 26 of 80 classical works have been awarded with such distinction. Almost all founders of Mendelian genetics and human cytogenetics, have been unrewarded. The author proposes to create the "Johan Gregory Mendel Prize" for geneticists