Asunto(s)
Anomalías Craneofaciales/genética , Enanismo/genética , Genética Médica/historia , Deformidades Congénitas de las Extremidades/genética , Anomalías Urogenitales/genética , Anomalías Craneofaciales/epidemiología , Enanismo/epidemiología , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Deformidades Congénitas de las Extremidades/epidemiología , Anomalías Urogenitales/epidemiologíaRESUMEN
This study discusses actors and institution movements leading to the disclosure in 2014 of Resolution 199 by the Brazilian Ministry of Health, which establishes the National Policy for the Comprehensive Care of Persons with Rare Diseases. Taking as sources the mainstream newspapers, drafts law, and secondary literature on the subject, we begin our analysis in the early 1990s when the first patient associations were created in Brazil - mainly for claiming more funds for research on genetic diseases - and arrive at the late 2010s when negotiations for a national policy are taking place in the National Congress. Resolution 199 is part of an ongoing process and the path towards its disclosure and the complications that followed have given us elements to discuss contemporary aspects of the Brazilian public health. Based on the references of the history of the present time and the social studies of science, we argue that two aspects have been fundamental to creating a national policy: framing different illnesses within the terminology "rare diseases" and the construction of a public perception about the right of health which is guaranteed by the 1988 Brazilian Constitution.
En este trabajo se analizan los movimientos de actores e instituciones que llevaron a la promulgación, en 2014, de la Resolución 199 del Ministerio de Salud de Brasil, que establece la Política Nacional de Atención Integral a las Personas con Enfermedades Raras. Tomando como fuentes los principales periódicos, proyectos de ley y bibliografía secundaria sobre el tema, comenzamos nuestro análisis a principios de la década de 1990 con la creación de las primeras asociaciones de pacientes en Brasil, para reclamar fundamentalmente más fondos para la investigación de enfermedades genéticas, y llegamos a fines de la década de 2010 con las negociaciones para una política nacional. La Resolución 199 es parte de un proceso en curso, en el que el camino hacia la promulgación y las complicaciones posteriores nos dan elementos para discutir aspectos actuales de la salud pública brasileña. Sobre la base de la historia del tiempo presente y los estudios sociales de la ciencia, argumentamos que hay dos aspectos que han sido fundamentales para crear una política nacional: enmarcar diferentes enfermedades en la terminología "enfermedades raras" y la construcción de una percepción pública sobre el derecho a la salud, que se garantiza en la Constitución brasileña de 1988.
Asunto(s)
Enfermedades Genéticas Congénitas , Genética Médica , Política de Salud , Programas Nacionales de Salud , Enfermedades Raras , Brasil , Prestación Integrada de Atención de Salud/historia , Prestación Integrada de Atención de Salud/legislación & jurisprudencia , Enfermedades Genéticas Congénitas/historia , Enfermedades Genéticas Congénitas/terapia , Genética Médica/historia , Política de Salud/economía , Política de Salud/historia , Política de Salud/legislación & jurisprudencia , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Programas Nacionales de Salud/economía , Programas Nacionales de Salud/historia , Programas Nacionales de Salud/legislación & jurisprudencia , Programas Nacionales de Salud/organización & administración , Periódicos como Asunto , Derechos del Paciente , Política , Enfermedades Raras/clasificación , Enfermedades Raras/genética , Enfermedades Raras/historia , Enfermedades Raras/terapia , Grupos de Autoayuda/historia , Grupos de Autoayuda/organización & administración , Terminología como AsuntoRESUMEN
RESUMEN En este trabajo se analizan los movimientos de actores e instituciones que llevaron a la promulgación, en 2014, de la Resolución 199 del Ministerio de Salud de Brasil, que establece la Política Nacional de Atención Integral a las Personas con Enfermedades Raras. Tomando como fuentes los principales periódicos, proyectos de ley y bibliografía secundaria sobre el tema, comenzamos nuestro análisis a principios de la década de 1990 con la creación de las primeras asociaciones de pacientes en Brasil, para reclamar fundamentalmente más fondos para la investigación de enfermedades genéticas, y llegamos a fines de la década de 2010 con las negociaciones para una política nacional. La Resolución 199 es parte de un proceso en curso, en el que el camino hacia la promulgación y las complicaciones posteriores nos dan elementos para discutir aspectos actuales de la salud pública brasileña. Sobre la base de la historia del tiempo presente y los estudios sociales de la ciencia, argumentamos que hay dos aspectos que han sido fundamentales para crear una política nacional: enmarcar diferentes enfermedades en la terminología "enfermedades raras" y la construcción de una percepción pública sobre el derecho a la salud, que se garantiza en la Constitución brasileña de 1988.
ABSTRACT This study discusses actors and institution movements leading to the disclosure in 2014 of Resolution 199 by the Brazilian Ministry of Health, which establishes the National Policy for the Comprehensive Care of Persons with Rare Diseases. Taking as sources the mainstream newspapers, drafts law, and secondary literature on the subject, we begin our analysis in the early 1990s when the first patient associations were created in Brazil - mainly for claiming more funds for research on genetic diseases - and arrive at the late 2010s when negotiations for a national policy are taking place in the National Congress. Resolution 199 is part of an ongoing process and the path towards its disclosure and the complications that followed have given us elements to discuss contemporary aspects of the Brazilian public health. Based on the references of the history of the present time and the social studies of science, we argue that two aspects have been fundamental to creating a national policy: framing different illnesses within the terminology "rare diseases" and the construction of a public perception about the right of health which is guaranteed by the 1988 Brazilian Constitution.
Asunto(s)
Humanos , Historia del Siglo XX , Historia del Siglo XXI , Genética Médica/historia , Política de Salud/economía , Política de Salud/historia , Política de Salud/legislación & jurisprudencia , Enfermedades Genéticas Congénitas/historia , Enfermedades Genéticas Congénitas/terapia , Política , Grupos de Autoayuda/historia , Grupos de Autoayuda/organización & administración , Brasil , Prestación Integrada de Atención de Salud/historia , Derechos del Paciente , Enfermedades Raras/clasificación , Enfermedades Raras/terapia , Programas Nacionales de Salud/economía , Programas Nacionales de Salud/organización & administración , Periódicos como Asunto , Terminología como AsuntoRESUMEN
This paper provides an overview of the state of Mexican genetics and biomedical knowledge during the second half of the twentieth century, as well as its impact on the visual representation of human groups and racial hierarchies, based on social studies of scientific imaging and visualization (SIV) and theoretical concepts and methods. It also addresses the genealogy and shifts of the concept of race and racialization of Mexican bodies, concluding with the novel visual culture that resulted from genetic knowledge merged with the racist phenomenon in the second half of the twentieth century in Mexico.
Asunto(s)
Genética Médica/historia , Ilustración Médica/historia , Grupos Raciales/genética , Evolución Biológica , Historia del Siglo XIX , Historia del Siglo XX , Humanos , Internacionalidad/historia , México , Racismo/historiaRESUMEN
Abstract This paper provides an overview of the state of Mexican genetics and biomedical knowledge during the second half of the twentieth century, as well as its impact on the visual representation of human groups and racial hierarchies, based on social studies of scientific imaging and visualization (SIV) and theoretical concepts and methods. It also addresses the genealogy and shifts of the concept of race and racialization of Mexican bodies, concluding with the novel visual culture that resulted from genetic knowledge merged with the racist phenomenon in the second half of the twentieth century in Mexico.
Resumo Este artigo traça um panorama do estado da genética e do conhecimento biomédico no México durante a segunda metade do século XX, assim como seu impacto na representação visual de grupos humanos e hierarquias raciais, baseado em estudos sociais da imagem e visualização cientifica e de seus métodos e conceitos teóricos. Também aborda a genealogia e as mudanças nos conceitos de raça e racismo nos corpos mexicanos, que resultaram na nova cultura visual fruto do conhecimento genético, interligando-se ao fenômeno do racismo na segunda metade do século XX no México.
Asunto(s)
Humanos , Historia del Siglo XIX , Historia del Siglo XX , Grupos Raciales/genética , Evolución Biológica , Genética Médica/historia , Ilustración Médica/historia , Internacionalidad/historia , Racismo/historia , MéxicoAsunto(s)
Genética Médica/historia , Argentina , Historia del Siglo XX , Historia del Siglo XXI , Humanos , MasculinoRESUMEN
Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts.
Asunto(s)
Genética Médica/historia , Genética de Población/historia , Sistema del Grupo Sanguíneo ABO/genética , Frecuencia de los Genes , Variación Genética , Genética Médica/métodos , Genética de Población/métodos , Historia del Siglo XX , Humanos , México , Grupos de PoblaciónRESUMEN
The implementation of a specific policy for rare diseases in the Brazilian Unified Health System presents challenges in terms of its rationale. Recognizing the importance of rarity in the context of public health means understanding genetics as one of the dimensions of disease and accepting that Brazil is undergoing a period of transition in health indicators. Although most rare diseases lack pharmacological treatment and genetic counseling constitutes the best strategy for their prevention, the cost of "orphan drugs" and their consequent lack of cost-effectiveness are still claimed as hurdles to the implementation of public policies in this field. Epidemiological aspects should not be used as isolated criteria for prioritization in public policies
Asunto(s)
Humanos , Servicios Farmacéuticos/historia , Enfermedades Raras/economía , Enfermedades Raras/tratamiento farmacológico , Política de Salud , Enfermedades Genéticas Congénitas/tratamiento farmacológico , Producción de Medicamentos sin Interés Comercial/legislación & jurisprudencia , Apoyo a la Investigación como Asunto , Bioética , Brasil , Análisis Costo-Beneficio , Investigación Biomédica , Asignación de Recursos/organización & administración , Genética Médica/historia , Accesibilidad a los Servicios de Salud/organización & administración , Enfermedades Genéticas Congénitas/epidemiologíaRESUMEN
En orden a ayudar a integrar la Bioetica global con la genética, las ciencias y un amplio rango de las disciplinas, es necesario apuntar a tópicos comunes entre ellas. En el conjunto de nociones expresadas por la Bioetica global están implicadas una variedad de comunidades; no poca gente está dispuesta a invocar un futuro sustentable diferentes comunidades tendrán sus propias maneras de denominarlas y aplicarlas.
In order to help to integrate(repay) the global Bioetics with the genetics, the sciences and a wide range of the disciplines, it is necessary to point at common topics among them. In the set of notions expressed by the global Bioetics they are involved a variety of communities; not few people are ready to invoke a future sustentable different communities will have his own ways of naming them and apply them.
Asunto(s)
Humanos , Bioética , Genética Médica/historiaRESUMEN
A la vista de las expectativas suscitadas por los recientes avances de las ciencias biomédicas, no hemos especulado con la posibilidad de modificar algún aspecto de nuestra condición física, psicológica e incluso moral?? Y es que poco a poco esos avances han dejado de ser sólo temas de inspiración de escritores de ciencia ficción para convertirse en aspiraciones razonables; de ahí que la historia de la biología molecular que lo que es inimaginable rápidamente se convierte en rutinario (Kitcher, 1996: 122). Por eso hemos empezado a considerar seriamente la posibilidad de subvertir el supuesto e inapelable destino genético, curar lo incurable.
Asunto(s)
Humanos , Bioética , Genoma Humano , Genética Médica/historia , Características Humanas , Ingeniería Genética/éticaRESUMEN
In 1872 a Brazilian ophthalmologist performed an enucleation in a young boy with retinoblastoma. This boy survived and married a woman without any family history of cancer. The couple had two daughters with bilateral retinoblastoma also seen by the same ophthalmologist, Hilário de Gouvêa. This case became the first documented report of a family with retinoblastoma in more than one generation. Here we examine the life of de Gouvêa and his contribution which raised the possibility that cancer had a genetic basis. We discuss how de Gouvêa's mind had been prepared to realize the importance of this observation. We attempt to define the conditions that allowed not only his discovery, but also the report of the findings and a dogged pursuit for credit over many years in a country which had virtually no research tradition and was still grappling with its recent colonial history.
Asunto(s)
Genética Médica/historia , Neoplasias de la Retina/historia , Retinoblastoma/historia , Brasil , Historia del Siglo XIX , Historia del Siglo XX , Humanos , Linaje , Neoplasias de la Retina/genética , Retinoblastoma/genéticaAsunto(s)
Evolución Biológica , Biología/historia , Genética/historia , Genómica/historia , Animales , ADN/química , ADN/genética , Terapia Genética , Genética Médica/historia , Historia del Siglo XIX , Historia del Siglo XX , Historia Antigua , Proyecto Genoma Humano/historia , Humanos , Farmacogenética , Religión/historiaRESUMEN
Morquio syndrome, also known as Mucopolysaccharidosis Type IV, is well known to pediatricians and geneticists, although it is rare. Many do not know much about the physician who first described this lysosomal disorder. In this brief review, the person and the disease are described, along with philatelic illustrations that have been issued to honor this famous Latin American medical hero.
Asunto(s)
Genética Médica/historia , Mucopolisacaridosis IV/historia , Filatelia , Salud de la Familia , Historia del Siglo XIX , Historia del Siglo XX , Humanos , Mucopolisacaridosis IV/genética , Pediatría/historia , UruguayRESUMEN
The aim of this historical review is to evaluate the evolution of genetics in the context of Latin American scientific culture, to value foreign influences and to highlight the discoveries and contributions of Latin American geneticists. During the first third of the twentieth century, local naturalists, botanists and physicians understood the chromosomal theory of heredity and Mendelian theory of evolution and begun research and teaching on these new theories and technologies. During the thirties and forties, North American geneticists visited South America and formed development poles on cytogenetics and population genetics in Brazil and Argentina. During the fifties and sixties, human genetics was formally established in Brazil, Argentina and Chile. Genetics teaching became generalized in universities and national Genetics Societies were formed. In 1969, the Latin American Genetics Society was created, unifying the efforts of zoologists, botanists, physicians and anthropologists in an unique Latin American cultural space, organizing 11 meetings between 1972 and 1994. Latin Americans have made a great contribution in genome discovery of animal, vegetable and human species in their territory. They explored the great genetic diversity of the continent, discovering new genes and diseases. The biomedical area had the greatest development. In 1997, there were 130 medical genetics centers, 120 hospitals specialized in congenital malformations, 56 molecular biology centers and 26 molecular genetics centers. At the end of the twentieth century, human genetics is completely integrated to medical sciences in Latin America