Centro de Estudos do Genoma Humano

Resumo

a) Description of the Center and its characteristic features. The Center will focus on three main aspects: basic research on the human genome focusing on genetic disorders and normal population variation in different ethnic groups: A) genetic service directed to families with affected patients or ‘at-risk’ for genetic disorders. This service aims at the prevention of genetic disorders (through identification of ‘at-risk’ couples. genetic counseling and prenatal diagnosis) and also constitutes the source for human genetic studies; transfer of knowledge at all levels: to the population through genetic counseling, to under graduate, graduate and post-doctoral students, to medical and health professionals, to journalists and to high school teachers and students; B) definition of research focus and of its multidisciplinary connections. The research will focus on the human genome, specifically on the normal population variation in different ethnic groups and genetic disorders. It is a multidisciplinary research which requires expertise in different scientific fields such as molecular biology in human and animal models, cytogenetic analysis, protein studies, clinical and neurological examination, psychiatric and psychological evaluations, and studies on human ecology and diversity of different Brazilian populations; C) description of planned technology transfer and educational activities and of their relationship to the research focus. The center will immediate benefit the population through services and wide ranging education programs: affected families with genetic disorders who will be studied in the center by a multidisciplinary team and who will benefit from an immediate transfer of the advances in cytogenetic and molecular technology. Advanced courses directed to graduate and post-graduate students and researchers interested in molecular biology technology and/or biological anthropology; short courses directed to: high school teachers, high school students, medical and health professionals and journalists; production of videos, study guides, laboratory manuals, software’s etc… as well as a scientific journal summarizing Information on the scientific and educational activities of the center; D) brief justification for the creation of a research center. The importance of studying and improving our understanding on the HUMAN GENOME is unquestionable. The creation of a research center would contribute to achieving this goal through the close collaboration of Brazilian and international researchers with expertise and experience in different fields. A tremendous effort and amount of money is being spent on different genome projects throughout the world, aiming at gene mapping and sequencing of human and other organisms' genomes. The understanding of gene functioning requires studies that integrate cytogenetic and molecular analyses, studies of gene structure and products (at the RNA and protein levels) and the correlation of genetic and phonotypical traits. The latter is mainly carried out within the context of genetic disorders. Through the integration of research in genetics and biological anthropology, the center will also aim at investigating the genetic basis of normal population variation. Moreover new studies in gene interaction are showing that the search for modifying genes (which modulate gene expression) is of utmost importance. The introduction of new molecular technology constitutes an invaluable tool to enhance our comprehension of the molecular mechanisms of normal and pathological gene functioning and on human diversity. This development has caused an exponential increase in genetic research throughout the world. Nevertheless the gap between first world and developing countries has increased enormously. This center involving highly qualified Brazilian researchers will help bridge this gap integrating several research teams with expertise in the different aspects of genome analysis. Furthermore, genetics is playing an increasingly important role in clinical practice and will certainly be the basis for the future of medicine. Our group has a long tradition in genetic counseling with more than 30.000 families studied. This essential service will be enhanced by the outcomes of this multidisciplinary project. Both in terms of expanding our capacity to attend patients and through the potential greater number of diseases being investigated. Finally, being within a university system our group also has a long tradition in educational activities. These are mainly directed towards undergraduate and graduate students but also attend the needs of a broader public from the population of families who come to genetic counseling to journalists and school teachers. The creation and support to the present center will enhance and develop our capacity to transfer knowledge at all these various levels; E) description of facilities. This center will count with the already existing facilities of several laboratories. These offer an infrastructure that range in application from DNA/RNA and protein analysis to cytogenetic and tissue culture labs. to biological anthropology. As members of the University of Sao Paulo teaching facilities are also widely available. Additionally the centre will count with new facilities currently being developed. These will include an independent building with approximately 1000 m2, with planned space for genetic counseling new laboratories including space for keeping transgenic animals and educational activities as well as a large lecture room. The University of Sao Paulo already covers the costs related to salaries of the main investigators, physical facilities and their maintenance. However, in order for the center to fulfill its aims it will require the further support of the University in terms of salaries for qualified research assistants and technicians. (AU)