No description available.

No description available.

Thesis (M.P.H.)--University of Texas Health Science Center at Houston, School of Public Health, 2008. / Source: Masters Abstracts International, Volume: 46-04, page: 2055. Adviser: Tommy Douglas. Includes bibliographical references.

Genetic medicine is a field progressing at a rapid rate. Even with all the new advancements, there are still minority groups who are less visible when it comes to the uptake of some forms of genetic medicine. African Americans and Hispanic/Latinos have been shown to experience certain conditions more than Caucasians. In the 2008 African American profile for North Carolina, African Americans had higher age-adjusted mortality rates for heart disease, cancer, stroke, diabetes, kidney disease, and chronic liver disease (North Carolina State Center for Health Statistics, 2010). Hispanics/Latinos in North Carolina had higher incidence levels of cancer, HIV and kidney disease as opposed to other races (North Carolina State Center for Health Statistics (b), 2010). Despite these poor health outcomes, African Americans and Hispanic/Latinos are less visible when it comes to participating in medical genetics research opportunities and also in genetic testing (Shavers, Lynch, & Burmeister, 2002). Lack of participation among African-American individuals can attributed to mistrust, due to past misuse in clinical research settings such as the Tuskegee Syphilis Study and a variety of other factors (i.e. access to care, socioeconomic level) (Smith, Thomas, Williams, & Ayers, 1999). Among Hispanic/Latinos, concerns exist about immigration and governmental bias, as well as language barriers and cultural differences between the researcher and participant (Gelman, 2010). These cultural histories have become particularly salient as the field of genomics becomes increasingly reliant on initiatives to increase minority participation in research efforts. In order to explore beyond what previous quantitative studies have found, ethnographic research methods such as focus groups and semi-structured interviews were utilized to understand why members of these two heritage groups are underrepresented. The initial phase of my study was completing two separate focus groups, one with only African Americans and one with only Hispanic/Latinos. The information shared in the focus groups sessions revealed potential areas of exploration for the individual semi-structured interviews. Thus, I conducted 65 semi-structured interviews with African American individuals and 25 semi-structured interviews the other with only Hispanic/Latino individuals. The analysis of the interviews revealed that factors such as age, religion, education level, and finances play key roles in decisions about participating in genetic testing or genetic research. Understanding the views and concerns of African Americans and Hispanic/Latinos could not only help identify potential barriers to genomics research and testing, but could also provide effective means of overcoming them. As an outcome of my study I argued for the need for community input in setting the research agendas. Engaging the community in the design and implementation of genetics research can be a useful method of bridging the trust between minority communities and the research institution. Additionally, community-academic partnerships can be beneficial in addressing the barriers of genomics research and testing by providing useful collaborations in defining perspectives on race and genetics. Moreover, the information gained from community collaborations can be used to develop policy recommendations relating to genomics research (Jones & Wells, 2007). This study was not intended as advocacy for genetic testing, but to lay the foundation for understanding the health care decisions of African Americans and Hispanic/Latinos in this new era of genetic medicine. / Ph. D.

This thesis investigates legal, ethical and social aspects of group participation in genomic research. Groups in research are diverse. They can be families, patient groups, native tribes, local communities, ethnic collectives or entire national populations united by disease heredity, common cultural or personal ties. Despite rapidly rising scientific and policy interest in research with groups, legal protections for group rights and responsibilities are scarce. This work discusses current problems in defining what constitutes groups, together with dominant normative assumptions and ambiguities in existing research protections. It focuses on key issues of representation, accountability, resourcesharing and control in the management of scientific and commercial uses of group research. It highlights the increasing value of groups as research partners and examines emerging cooperative models, in the quest for appropriate legal frameworks for group protections. The thesis recommends a new concept of group empowerment and considers legal models for the implementation of the empowerment principle in modern research ethics. It proposes a way forward for law to focus on the collaborative aspects of group-researcher relationships, and to identify group research gifts as conditional, reciprocal returns of favours. Under the principle of group empowerment, reciprocity and cooperation are central in the development of adequate mechanisms for group protections. This new approach contributes to current thinking about ways to redress inequities in the balance of power between groups and researchers, build viable mechanisms for shared governance, and facilitate group involvement in genomic endeavours.

Cassette systems for creating intergeneric hybrid ATCases were constructed. An MluI restriction enzyme site was introduced at the carbamoylphosphate binding site within the pyrB genes of both Pseudomonas putida and Escherichia coli. Two hybrids, E. coli pyrB polar domain fused with P. putida pyrB equatorial domain and P. putida pyrB polar domain fused with E. coli pyrB equatorial domain, are possible. The intergeneric E. coli-P. putida hybrid pyrB gene was constructed and found to encode an active ATCase which complemented an E. coli Pyr- strain. These hybrids are useful for kinetic and expression studies of ATCase in E. coli.

Šiame magistro baigiamajame darbe lyginamuoju metodu yra analizuojamas preimplantacinės diagnostikos reguliavimas įvairiose pasaulio valstybėse, tuo pačiu atskleidžiant pagrindines iš to kylančias problemas. Tyrimas atliktas siekiant palyginti skirtingų valstybių teisės aktus ir patirtį šioje biomedicinos srityje. Atlikta analizė rodo, kad preimplantacinė diagnostika vis dar yra pakankamai nauja ir atsargiai vertinama procedūra, sukelianti daug etinių ir teisinių diskusijų, o teisinis reguliavimas priklauso nuo valstybės teisinių, religinių, kultūrinių, socialinių tradicijų. / These master theses analyze the regulation of preimplantation genetic diagnosis in comparative aspect in different countries, simultaneously revealing main problems arising. The aim of this research is to compare legal acts and experience of different countries in this biomedical field. The analysis shows, that preimplantation genetic diagnosis is still innovative and well considered procedure, which give a rise to a lot of ethical and legal discussions, and legal regulation of this procedure depends on legal, religious, cultural and social traditions of the country.

Orientador: Maria Conceição da Costa / Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Geociências / Made available in DSpace on 2018-08-21T08:22:33Z (GMT). No. of bitstreams: 1 Osada_NeideMayumi_D.pdf: 3916060 bytes, checksum: 312401d6784e75b7ae0293de5a3f97c5 (MD5) Previous issue date: 2012 / Resumo: A biologia molecular contribuiu decisivamente para os avanços na produção do conhecimento em genética humana, possibilitando aos cientistas e pesquisadores conhecer e manipular o corpo humano e as doenças genéticas sob a inédita perspectiva biomolecular. Esse conjunto de mudanças tecnocientíficas não se limitou ao campo da pesquisa, repercutindo na economia com a criação de uma indústria de biotecnologia, nas políticas de saúde, na produção e distribuição do novo conhecimento e na mobilização de pacientes. A partir da segunda metade dos anos 1980, analistas dos ESCT preocupados com as mudanças em torno da saúde, denominaram esse conjunto de mudanças de biomedicalização. Inspirado nessa abordagem, o objetivo deste trabalho será analisar o lugar dos laboratórios públicos de pesquisa na constituição desse processo, sinalizando para as singularidades do fenômeno no Brasil e avaliando a percepção de pacientes e familiares diante dessas mudanças. A metodologia de pesquisa apoiou-se principalmente nas observações de laboratório, realizada em quatro laboratórios do Centro de Genética Humana (CGH), entrevistas semiestruturadas com pesquisadores do Centro, acompanhamento de sessões de atendimentos aos pacientes do CGH e visitas a centros de atendimento a crianças especiais. A pesquisa acompanhou parte da descrição de uma nova doença genética denominada síndrome S. e o cotidiano de atividades de dois laboratórios dedicados aos estudos da síndrome da distrofia muscular e à elaboração de terapias para a doença. Na elaboração da síndrome S., analisei a participação dos diversos atores envolvidos no processo de descrição, na comprovação da doença por meio das ferramentas da biologia molecular e nos efeitos produzidos sobre os pacientes a partir do discurso de cientistas sobre genes doentes e formas de transmissão da doença. As duas doenças estudadas indicam que os laboratórios públicos de pesquisa ocupam um lugar privilegiado no processo de biomedicalização. Indicam também que esses laboratórios são fundamentais na distribuição desse conhecimento aos pacientes, seja pela área de atendimentos aos pacientes do CGH, seja pela distribuição do conhecimento (teste diagnóstico, terapia ou protocolos de aconselhamento genético, por exemplo) pela rede do sistema público de saúde. Percebeu-se também que as pesquisas realizadas nesses recintos estão incentivando pacientes a compreender a noção de risco e a assumir responsabilidades. Ao conhecer o risco genético, que pacientes e familiares carregam em seus corpos, pacientes e pesquisadores se alinharam combinando interesses e compartilhando experiências individuais / Abstract: Molecular Biology has contributed to the advance of knowledge production in human genetics, thus enabling scientists and researchers to learn about and manipulate the human body and genetic diseases from a biomolecular perspective. These technoscientific changes - which have not been limited to the research field- are producing transformations in the economy (largely due to the biotechnology industry), in the public health arena, the production and distribution of scientific knowledge, and in the public perception about those changes in health. In order to understand this new intellectual environment (that took root in the late 1980s), STS scholars have named this process "biomedicalization." Inspired by this process, the purpose of this dissertation is to analyze the roles played by the public laboratories in the process of biomedicalization, to look for the singularities of this process in Brazil, and to understand patient and family perspectives on this issue. The research methodology for this work consisted of a combination of laboratory participant observations, semi-structured interviews with researchers from the Center for Human Genetics (CHG), observations of the medical and genetic care at CHG, and visits to care centers for children with special needs, hospitals, and human genetics laboratories. This research focused on the development of Muscular Dystrophy therapies, as well as the nature of a new genetic disease named Syndrome S. During the study of these two disorders, I became interested in analyzing the social meanings produced by those diseases in the fields of genetic and molecular biology in the production of therapies for muscular dystrophy and related diseases, and in the various places occupied by patients in this process of change. In the construction of syndrome S., I have analyzed the participation of different actors, the process of description and confirmation of this new disease through molecular biological tools, the perceptions assumed by scientists and patients when the gene locus was identified, and the relations formulated among patients and researchers. The analysis of these two diseases suggests that public laboratories occupy a privileged place in the process of biomedicalization, suggesting that a large part of the process has been boosted with public resources by the State. The studies conducted also suggest that patients are becoming more aware of their genetic risks and responsibilities. One of the effects about this idea has been the mobilization of patients and families in creating and engaging in patients' associations. It seems that individual experience of illness are provoking a movement to align interests from scientists and patients, to the disease collectivity, and to generate new strategies for dealing with the disease / Doutorado / Politica Cientifica e Tecnologica / Doutora em Política Científica e Tecnológica

Mémoire numérisé par la Division de la gestion de documents et des archives de l'Université de Montréal.

Mémoire numérisé par la Division de la gestion de documents et des archives de l'Université de Montréal