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O desenvolvimento do conceito de linkage (1902 - 1915): uma contribuição histórica para o ensino de genética.; The growth of the concept of linkage 1902-1915): a historical contribution to the teaching of genetics.

Brunelli, Ariane
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 27/04/2015 PT
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Considerando que a história da ciência pode constituir uma ferramenta útil para o ensino de ciência, o objetivo desta dissertação é inicialmente apresentar um material histórico para o ensino e aprendizagem de genética no nível médio. Este diz respeito ao desenvolvimento do conceito de linkage no período compreendido entre 1902 e 1915. A partir deste estudo histórico foi elaborada uma sequência didática com o intuito de auxiliar no ensino e aprendizagem deste conceito. Na construção desta levou-se em conta tanto a dimensão epistêmica como a dimensão pedagógica, considerando o processo de elaboração, métodos e validação do conhecimento científico conforme proposto por Méheut (2005). Esta dissertação compreende uma introdução e três capítulos. O Capítulo 1 discute as relações entre história da ciência e o ensino e aprendizagem de genética. O Capítulo 2 apresenta um estudo histórico sobre as explicações para as características que eram herdadas juntas até da proposta do linkage. O Capítulo 3 oferece uma sequência didática. Espera-se que o material elaborado para ser trabalhado em sala de aula possa contribuir para o entendimento do conceito de linkage e mostrar aspectos sobre a natureza da ciência (NDC) tais como: os cientistas podem mudar de ideia; resultados experimentais semelhantes podem ser interpretados à luz de teorias diferentes; e o empreendimento científico é resultado de um trabalho coletivo.; Taking into account that history of science can be an useful tool for the teaching of science...

Spreading the evolutionary synthesis : Theodosius Dobzhansky and genetics in Brazil

Araujo, Aldo Mellender de
Fonte: Universidade Federal do Rio Grande do Sul Publicador: Universidade Federal do Rio Grande do Sul
Tipo: Artigo de Revista Científica Formato: application/pdf
ENG
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The so-called Evolutionary Synthesis, the present paradigm for evolutionary explanations, was established during the 1920s, 1930s and 1940s. One of the leading scientists contributing to this was Theodosius Dobzhansky, a Russian born geneticist who emigrated to the United States of America in 1927 to study with Thomas Hunt Morgan. He was also responsible for the development of Drosophila genetics in Brazil, which was the main organism employed in experimental studies of evolution. Dobzhansky had several opportunities to visit Brazil starting in 1943, to do field and laboratory work as well as teaching. All these activities were fundamental in the spreading of new concepts, methodology, and objectives of the Synthesis to a new audience. This paper discusses the results of the interaction between Dobzhansky and a group of young Brazilian researchers, particularly from the University of São Paulo.

A strategy for the identification of new abiotic stress determinants in arabidopsis using web-based data mining and reverse genetics

Azevedo, Herlânder; Correia, Joana Silva; Oliveira, Juliana Alice Ferreira; Laranjeira, Sara; Barbeta, C.; Silva, Vitor Amorim; Botella Mesa, Miguel; Neto, T. Lino; Tavares, R. M.
Fonte: Mary Ann Liebert, Inc. Publishers Publicador: Mary Ann Liebert, Inc. Publishers
Tipo: Artigo de Revista Científica
Publicado em 02/12/2011 ENG
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Since the sequencing of the Arabidopsis thaliana genome in 2000, plant researchers have faced the complex challenge of assigning function to thousands of genes. Functional discovery by in silico prediction or homology search resolved a significant number of genes, but only a minor part has been experimentally validated. Arabidopsis entry into the post-genomic era signified a massive increase in high-throughput approaches to functional discovery, which have since become available through publicly-available web-based resources. The present work focuses on an easy and straightforward strategy that couples data-mining to reverse genetics principles, to allow for the identification of new abiotic stress determinant genes. The strategy explores systematic microarray-based transcriptomics experiments, involving Arabidopsis abiotic stress responses. An overview of the most significant resources and databases for functional discovery in Arabidopsis is presented. The successful application of the outlined strategy is illustrated by the identification of a new abiotic stress determinant gene, HRR, which displays a heat stress-related phenotype after a loss-of-function reverse genetics approach.; No competing financial interests exist. The present work was supported by Foundation for Science and Technology (POCTI/AGR/45462/2002). H. Azevedo (SFRH/BPD/17198/2004)...

Construction and characterisation of a complete reverse genetics system of dengue virus type 3

Santos,Jefferson Jose da Silva; Cordeiro,Marli Tenorio; Bertani,Giovani Rota; Marques,Ernesto Torres de Azevedo; Gil,Laura Helena Vega Gonzales
Fonte: Instituto Oswaldo Cruz, Ministério da Saúde Publicador: Instituto Oswaldo Cruz, Ministério da Saúde
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2013 EN
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Dengue virulence and fitness are important factors that determine disease outcome. However, dengue virus (DENV) molecular biology and pathogenesis are not completely elucidated. New insights on those mechanisms have been facilitated by the development of reverse genetic systems in the past decades. Unfortunately, instability of flavivirus genomes cloned in Escherichia coli has been a major problem in these systems. Here, we describe the development of a complete reverse genetics system, based on the construction of an infectious clone and replicon for a low passage DENV-3 genotype III of a clinical isolate. Both constructs were assembled into a newly designed yeast- E. coli shuttle vector by homologous recombination technique and propagated in yeast to prevent any possible genome instability in E. coli . RNA transcripts derived from the infectious clone are infectious upon transfection into BHK-21 cells even after repeated passages of the plasmid in yeast. Transcript-derived DENV-3 exhibited growth kinetics, focus formation size comparable to original DENV-3 in mosquito C6/36 cell culture. In vitro characterisation of DENV-3 replicon confirmed its identity and ability to replicate transiently in BHK-21 cells. The reverse genetics system reported here is a valuable tool that will facilitate further molecular studies in DENV replication...

When population and evolutionary genetics met behaviour

Costa,Rodolfo; Stanewsky,Ralf
Fonte: Instituto Oswaldo Cruz, Ministério da Saúde Publicador: Instituto Oswaldo Cruz, Ministério da Saúde
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2013 EN
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In this review, we analyse the impact of a population and evolutionary genetics approach on the study of insect behaviour. Our attention is focused on the model organism Drosophila melanogaster and several other insect species. In particular, we explore the relationship between rhythmic behaviours and the molecular evolution of clock and ion channel genes.

Practicability of comprehensive care in clinical genetics in the brazilian unified health system: expanding the debate

Lopes-Júnior,Luís Carlos; Flória-Santos,Milena; Ferraz,Victor Evangelista de Faria; Villa,Tereza Cristina Scatena; Palha,Pedro Fredemir; Bomfim,Emiliana de Omena; Abrahão,Camila Aparecida; Silva,Sara da
Fonte: Universidade Federal de Santa Catarina, Programa de Pós Graduação em Enfermagem Publicador: Universidade Federal de Santa Catarina, Programa de Pós Graduação em Enfermagem
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2014 EN
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This article aims to highlight the discussions on the National Policy for Comprehensive Care in Clinical Genetics and reflect on its pending regulation when genomic discoveries change the model of health care. Nine of the ten causes of morbidity and mortality worldwide presents genetic/genomic predisposition. Based on strategic planning, this Policy proposes the organization of a network of referral services and specialized centers in genetics, with capacity to meet the needs of the population. Its regulation requires training and qualification of the health care professionals to provide comprehensive care, to optimize access, to identify and diagnose individuals with increased risk for injuries with genetic predisposition early. In primary health care, the care in question should not be interpreted as a specialty, but as specialized. This model presents innovative perspectives, in line with the principles and guidelines of the Unified Health System.

Spreading the evolutionary synthesis: Theodosius Dobzhansky and genetics in Brazil

Araújo,Aldo Mellender de
Fonte: Sociedade Brasileira de Genética Publicador: Sociedade Brasileira de Genética
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2004 EN
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36.24%
The so-called Evolutionary Synthesis, the present paradigm for evolutionary explanations, was established during the 1920s, 1930s and 1940s. One of the leading scientists contributing to this was Theodosius Dobzhansky, a Russian born geneticist who emigrated to the United States of America in 1927 to study with Thomas Hunt Morgan. He was also responsible for the development of Drosophila genetics in Brazil, which was the main organism employed in experimental studies of evolution. Dobzhansky had several opportunities to visit Brazil starting in 1943, to do field and laboratory work as well as teaching. All these activities were fundamental in the spreading of new concepts, methodology, and objectives of the Synthesis to a new audience. This paper discusses the results of the interaction between Dobzhansky and a group of young Brazilian researchers, particularly from the University of São Paulo.

Genealogical data in population medical genetics: field guidelines

Poletta,Fernando A.; Orioli,Ieda M.; Castilla,Eduardo E.
Fonte: Sociedade Brasileira de Genética Publicador: Sociedade Brasileira de Genética
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2014 EN
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This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ineffective graphic pedigrees. Initially, the objective of the pedigree must be decided, and the available information sources need to be identified and validated. Data collection and recording by the tabulated method is advocated, and the involved techniques are presented. Genealogical and personal information are the two main components of pedigree data. While the latter is unique to each investigation project, the former is solely represented by gametic links between persons. The triad of a given pedigree member and its two parents constitutes the building unit of a genealogy. Likewise, three ID numbers representing those three elements of the triad is the record field required for any pedigree analysis. Pedigree construction, as well as pedigree and population data analysis, varies according to the pre-established objectives, the existing information, and the available resources.

Genetics and human rights: Two histories: restoring genetic identity after forced disappearance and identity suppression in Argentina and after compulsory isolation for leprosy in Brazil

Penchaszadeh,Victor B.; Schuler-Faccini,Lavinia
Fonte: Sociedade Brasileira de Genética Publicador: Sociedade Brasileira de Genética
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2014 EN
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Over the past three decades, there has been an accelerated development of genetic technology, leading to its use in human genetic identification for many purposes. Additionally, it has been made explicit that identity is a fundamental human right. A number of historical circumstances have connected these developments. Personal identity is increasingly associated with the preservation and defense of human rights and is a tool to repair the violation of these rights, particularly the right to identity. In this article, we report the use of genetics to support the right to identity in two historical circumstances. First, we report the search, localization, DNA testing and genetic identification of 110 individuals who were appropriated as babies by the Argentine military dictatorship of 1976-1983 in the context of savage repression and egregious violations of human rights, including forced disappearance and suppression of identity. Second, we report on the repair of right-to-identity violations of hundreds of individuals that occurred during the process of compulsory isolation of patients with leprosy in Brazil through the Program "Reencontro", which has led to the genetic identification of 158 pairs of individuals who previously did not have proof that they were siblings. The high value placed on genetic identification by victims of identity suppression did not counter the prevailing view that genetic factors were not more important than other factors (social...

Designing and implementing sample and data collection for an international genetics study: the Type 1 Diabetes Genetics Consortium

Hilner, Joan E.; Perdue, Letitia H.; Sides, Elizabeth G.; Pierce, June J.; Wagner, Ana M.; Aldrich, Alan; Loth, Amanda; Albret, Lotte; Wagenknecht, Lynne E.; Nierras, Concepcion; Akolkar, Beena; Type 1 Diabetes Genetics Consortium
Fonte: Sage Publications Ltd. Publicador: Sage Publications Ltd.
Tipo: Artigo de Revista Científica
Publicado em //2010 EN
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Background and Purpose The Type 1 Diabetes Genetics Consortium (T1DGC) is an international project whose primary aims are to: (a) discover genes that modify type 1 diabetes risk; and (b) expand upon the existing genetic resources for type 1 diabetes research. The initial goal was to collect 2500 affected sibling pair (ASP) families worldwide. Methods T1DGC was organized into four regional networks (Asia-Pacific, Europe, North America, and the United Kingdom) and a Coordinating Center. A Steering Committee, with representatives from each network, the Coordinating Center, and the funding organizations, was responsible for T1DGC operations. The Coordinating Center, with regional network representatives, developed study documents and data systems. Each network established laboratories for: DNA extraction and cell line production; human leukocyte antigen genotyping; and autoantibody measurement. Samples were tracked from the point of collection, processed at network laboratories and stored for deposit at National Institute for Diabetes and Digestive and Kidney Diseases (NIDDK) Central Repositories. Phenotypic data were collected and entered into the study database maintained by the Coordinating Center. Results T1DGC achieved its original ASP recruitment goal. In response to research design changes...

Obesity-susceptibility loci have a limited influence on birth weight: A meta-analysis of up to 28,219 individuals

Kilpelainen, T.; den Hoed, M.; Ong, K.; Grontved, A.; Brage, S.; Early Growth Genetics Consortium; Jameson, K.; Cooper, C.; Khaw, K.T.; Ekeund, U.; Wareham, N.; Loos, R.
Fonte: American Society for Clinical Nutrition Publicador: American Society for Clinical Nutrition
Tipo: Artigo de Revista Científica
Publicado em //2011 EN
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BACKGROUND: High birth weight is associated with adult body mass index (BMI). We hypothesized that birth weight and BMI may partly share a common genetic background. OBJECTIVE: The objective was to examine the associations of 12 established BMI variants in or near the NEGR1, SEC16B, TMEM18, ETV5, GNPDA2, BDNF, MTCH2, BCDIN3D, SH2B1, FTO, MC4R, and KCTD15 genes and their additive score with birth weight. DESIGN: A meta-analysis was conducted with the use of 1) the European Prospective Investigation into Cancer and Nutrition (EPIC)-Norfolk, Hertfordshire, Fenland, and European Youth Heart Study cohorts (n(max) = 14,060); 2) data extracted from the Early Growth Genetics Consortium meta-analysis of 6 genome-wide association studies for birth weight (n(max) = 10,623); and 3) all published data (n(max) = 14,837). RESULTS: Only the MTCH2 and FTO loci showed a nominally significant association with birth weight. The BMI-increasing allele of the MTCH2 variant (rs10838738) was associated with a lower birth weight (β ± SE: -13 ± 5 g/allele; P = 0.012; n = 23,680), and the BMI-increasing allele of the FTO variant (rs1121980) was associated with a higher birth weight (β ± SE: 11 ± 4 g/allele; P = 0.013; n = 28,219). These results were not significant after correction for multiple testing. CONCLUSIONS: Obesity-susceptibility loci have a small or no effect on weight at birth. Some evidence of an association was found for the MTCH2 and FTO loci...

Population Regulomics: Applying population genetics to the cis-regulome

Ruths, Troy
Fonte: Universidade Rice Publicador: Universidade Rice
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Population genetics provides a mathematical and computational framework for understanding and modeling evolutionary processes, and so it is vital for the investigation of biological systems. In its current state, molecular population genetics is exclusively focused on molecular sequences (DNA, RNA, or amino acid sequences), where all application-ready simulators and analytic measures work only on sequence data. Consequently, in the early 2000s, when technologies became available to sequence entire genomes, population genetic approaches were naturally applied to mine out signatures of selection and conservation, resulting in the subfi eld of population genomics. Nearly every present genome project applies population genomic techniques to identify functional information and genome structure. Recent technologies have ushered in a similar wave of genetic information, this time focusing on biological mechanisms operating above the genome, most notably on gene regulation (regulatory networks). In this work, I develop a molecular population genetics approach for gene regulation, called population regulomics, which includes simulators and analytic measurements that operate on populations of regulatory networks. I conducted extensive data analyses to connect the genome with the cis-regulome...

Comparative mitochondrial genomics toward understanding genetics and evolution of arbuscular mycorrhizal fungi

Nadimi, Maryam
Fonte: Université de Montréal Publicador: Université de Montréal
Tipo: Thèse ou Mémoire numérique / Electronic Thesis or Dissertation
EN
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Les champignons mycorhiziens arbusculaires (CMA) sont très répandus dans le sol où ils forment des associations symbiotiques avec la majorité des plantes appelées mycorhizes arbusculaires. Le développement des CMA dépend fortement de la plante hôte, de telle sorte qu'ils ne peuvent vivre à l'état saprotrophique, par conséquent ils sont considérés comme des biotrophes obligatoires. Les CMA forment une lignée évolutive basale des champignons et ils appartiennent au phylum Glomeromycota. Leurs mycélia sont formés d’un réseau d’hyphes cénocytiques dans lesquelles les noyaux et les organites cellulaires peuvent se déplacer librement d’un compartiment à l’autre. Les CMA permettent à la plante hôte de bénéficier d'une meilleure nutrition minérale, grâce au réseau d'hyphes extraradiculaires, qui s'étend au-delà de la zone du sol explorée par les racines. Ces hyphes possèdent une grande capacité d'absorption d’éléments nutritifs qui vont être transportés par ceux-ci jusqu’aux racines. De ce fait, les CMA améliorent la croissance des plantes tout en les protégeant des stresses biotiques et abiotiques. Malgré l’importance des CMA, leurs génétique et évolution demeurent peu connues. Leurs études sont ardues à cause de leur mode de vie qui empêche leur culture en absence des plantes hôtes. En plus leur diversité génétique intra-isolat des génomes nucléaires...

2010: A Century of Drosophila Genetics Through the Prism of the white Gene

Green, M. M.
Fonte: Genetics Society of America Publicador: Genetics Society of America
Tipo: Artigo de Revista Científica
Publicado em /01/2010 EN
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In January 1910, a century ago, Thomas Hunt Morgan discovered his first Drosophila mutant, a white-eyed male (Morgan 1910). Morgan named the mutant gene white and soon demonstrated that it resided on the X chromosome. This was the first localization of a specific gene to a particular chromosome. Thus began Drosophila experimental genetics. The story of the initial work on white is well known but what is less well appreciated is the multiplicity of ways in which this gene has been used to explore fundamental questions in genetics. Here, I review some of the highlights of a century's productive use of white in Drosophila genetics.

Darwin and Genetics

Charlesworth, Brian; Charlesworth, Deborah
Fonte: Genetics Society of America Publicador: Genetics Society of America
Tipo: Artigo de Revista Científica
Publicado em /11/2009 EN
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Darwin's theory of natural selection lacked an adequate account of inheritance, making it logically incomplete. We review the interaction between evolution and genetics, showing how, unlike Mendel, Darwin's lack of a model of the mechanism of inheritance left him unable to interpret his own data that showed Mendelian ratios, even though he shared with Mendel a more mathematical and probabilistic outlook than most biologists of his time. Darwin's own “pangenesis” model provided a mechanism for generating ample variability on which selection could act. It involved, however, the inheritance of characters acquired during an organism's life, which Darwin himself knew could not explain some evolutionary situations. Once the particulate basis of genetics was understood, it was seen to allow variation to be passed intact to new generations, and evolution could then be understood as a process of changes in the frequencies of stable variants. Evolutionary genetics subsequently developed as a central part of biology. Darwinian principles now play a greater role in biology than ever before, which we illustrate with some examples of studies of natural selection that use DNA sequence data and with some recent advances in answering questions first asked by Darwin.

Genetics Behind Barbed Wire: Masuo Kodani, Émigré Geneticists, and Wartime Genetics Research at Manzanar Relocation Center

Smocovitis, Vassiliki Betty
Fonte: Genetics Society of America Publicador: Genetics Society of America
Tipo: Artigo de Revista Científica
Publicado em /02/2011 EN
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This article explores the sociopolitical backdrop of genetics research during the politically turbulent decades of the mid-20th century that saw the persecution, displacement, and relocation of unpopular minorities in both the United States and Europe. It explores how geneticists in the United States accommodated these disruptions through formal and informal émigré networks and how the subsequent war affected their research programs and their lives. It does so by focusing on the career and life of geneticist Masuo Kodani, who, as a Japanese American, found himself conducting unexpected cytogenetics research in Manzanar, a “relocation center,” or internment camp, located in the California desert, after the attack on Pearl Harbor. After the war, Kodani's subsequent career continued to be shaped by his experiences as a Japanese American and by the specific skills as a cytogeneticist that he demonstrated at a critical period in the history of 20th-century genetics. His many relocations in search of employment culminated in his work with the Atomic Bomb Casualty Commission on human chromosomes, for which he is best known.

Transnational science and collaborative networks : the case of Genetics and Radiobiology in Mexico, 1950-1970

Barahona, Ana
Fonte: Universidade Autônoma de Barcelona Publicador: Universidade Autônoma de Barcelona
Tipo: Artigo de Revista Científica Formato: application/pdf
Publicado em //2015 ENG
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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...

Functional and Evolutionary Genetics of a Wild Baboon Population

Tung, Jenny
Fonte: Universidade Duke Publicador: Universidade Duke
Tipo: Dissertação Formato: 4479174 bytes; application/pdf
Publicado em //2010 EN_US
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Although evolution results from differential reproduction and survival at the level of the individual, most research in evolutionary genetics is concerned with comparisons made at the level of divergent populations or species. This is particularly true in work focused on the evolutionary genetics of natural populations. While this level of inquiry is extremely valuable, in order to develop a complete understanding of the evolutionary process we also need to understand how traits evolve within populations, on the level of differences between individuals, and in the context of natural ecological and environmental variation. A major difficulty confronting such work stems from the difficulty of assessing interindividual phenotypic variation and its sources within natural populations. This level of inquiry is, however, the main focus for many long-term field studies. Here, I take advantage of one such field study, centered on the wild baboon population of the Amboseli basin, Kenya, to investigate the possibilities for integrating functional, population, and evolutionary genetic approaches with behavioral, ecological, and environmental data. First, I describe patterns of hybridization and admixture in the Amboseli population, a potentially important component of population structure. Second...

Transnational science and collaborative networks: the case of Genetics and Radiobiology in Mexico, 1950-1970

Barahona,Ana
Fonte: Dynamis Publicador: Dynamis
Tipo: info:eu-repo/semantics/article; journal article; info:eu-repo/semantics/publishedVersion Formato: text/html; application/pdf
Publicado em 01/01/2015 ENG
Relevância na Pesquisa
36.3%
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 genetics of mental illness: implications for practice

Hyman,Steven E.
Fonte: World Health Organization Publicador: World Health Organization
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2000 EN
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36.3%
Many of the comfortable and relatively simple models of the nature of mental disorders, their causes and their neural substrates now appear quite frayed. Gone is the idea that symptom clusters, course of illness, family history and treatment response would coalesce in a simple way to yield valid diagnoses. Also too simple was the concept, born of early pharmacological successes, that abnormal levels of one or more neurotransmitters would satisfactorily explain the pathogenesis of depression or schizophrenia. Gone is the notion that there is a single gene that causes any mental disorder or determines any behavioural variant. The concept of the causative gene has been replaced by that of genetic complexity, in which multiple genes act in concert with non-genetic factors to produce a risk of mental disorder. Discoveries in genetics and neuroscience can be expected to lead to better models that provide improved representation of the complexity of the brain and behaviour and the development of both. There are likely to be profound implications for clinical practice. The complex genetics of risk should reinvigorate research on the epidemiology and classification of mental disorders and explain the complex patterns of disease transmission within families. Knowledge of the timing of the expression of risk genes during brain development and of their function should not only contribute to an understanding of gene action and the pathophysiology of disease but should also help to direct the search for modifiable environmental risk factors that convert risk into illness. The function of risk genes can only become comprehensible in the context of advances at the molecular...