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Contribuições para o estabelecimento de estratégias laboratoriais em genética para a saúde pública no Brasil utilizando a síndrome de deleção 22q11.2 como modelo; Contributions to the establishment of laboratory strategies in medical genetics for public health in Brazil, using the 22q11.2 deletion syndrome as a model

Tarsis Antonio Paiva Vieira
Fonte: Biblioteca Digital da Unicamp Publicador: Biblioteca Digital da Unicamp
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 24/02/2012 PT
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35.99%
A aplicação de modernos conhecimentos sobre causa, efeito e métodos diagnósticos de doenças genéticas para cuidados de saúde é bastante complexa, especialmente no Brasil onde o sistema de saúde é predominantemente público. A síndrome de deleção 22q11.2 (S. Del 22q11.2) é a condição geneticamente determinada mais comum em indivíduos com anomalias palatais, com prevalência de 1/4.000 nascimentos. Considerando esta prevalência, as características do sistema de saúde e da atenção em genética no Brasil, o principal objetivo deste estudo foi realizar estudo multicêntrico para diagnóstico da S. Del 22q11.2 como modelo para otimização de estratégias diagnósticas em genética médica. Para isso, verificou-se a disponibilidade do diagnóstico laboratorial da S. Del 22q11.2 em 11 serviços de genética de diferentes regiões do país, e este foi centralizado nos Laboratórios de Citogenética Humana e Genética Molecular da FCM/UNICAMP por 30 meses. Foram estudados 100 pacientes (48M:52F) e as técnicas utilizadas foram FISH (Fluorescence in situ Hibridization) e MLPA (Multiplex Ligation-dependent Probe Amplification). Disponibilidade anterior e temporária do diagnóstico laboratorial de deleção em 22q11, vinculada a projetos de pesquisa...

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.

New Roles for Model Genetic Organisms in Understanding and Treating Human Disease: Report From The 2006 Genetics Society of America Meeting

Spradling, Allan; Ganetsky, Barry; Hieter, Phil; Johnston, Mark; Olson, Maynard; Orr-Weaver, Terry; Rossant, Janet; Sanchez, Alejandro; Waterston, Robert
Fonte: Copyright © 2006 by the Genetics Society of America Publicador: Copyright © 2006 by the Genetics Society of America
Tipo: Artigo de Revista Científica
Publicado em /04/2006 EN
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Fundamental biological knowledge and the technology to acquire it have been immeasurably advanced by past efforts to understand and manipulate the genomes of model organisms. Has the utility of bacteria, yeast, worms, flies, mice, plants, and other models now peaked and are humans poised to become the model organism of the future? The Genetics Society of America recently convened its 2006 meeting entitled “Genetic Analysis: Model Organisms to Human Biology” to examine the future role of genetic research. (Because of time limitations, the meeting was unable to cover the substantial contributions and future potential of research on model prokaryotic organisms.) In fact, the potential of model-organism-based studies has grown substantially in recent years. The genomics revolution has revealed an underlying unity between the cells and tissues of eukaryotic organisms from yeast to humans. No uniquely human biological mechanisms have yet come to light. This common evolutionary heritage makes it possible to use genetically tractable organisms to model important aspects of human medical disorders such as cancer, birth defects, neurological dysfunction, reproductive failure, malnutrition, and aging in systems amenable to rapid and powerful experimentation. Applying model systems in this way will allow us to identify common genes...

ASHG activities relative to education: Human genetics as a component of medical school curricula: A report to the American society of human genetics

Riccardi, Vincent M.; Schmickel, Roy D.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /04/1988 EN
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In recent years, there has been a remarkable increase in both the rate of acquiring new information about human genetics and the importance of human genetics for modern health care. As a result, human genetics educators have queried whether the teaching of human genetics in North-American medical schools has kept pace with these increases. To address this question, a survey of these medical schools was undertaken to assess how human geneticists perceive the teaching of human genetics in their respective institutions. The results of the survey, begun and completed in 1985, indicate the following: (1) the teaching of human genetics in medical schools is extremely variable from one institution to another, with some schools having no identifiable human genetics teaching at all; (2) the relevance of human genetics to other basic science and clinical disciplines apparently leads to noncategorical or fragmented teaching of human genetics, which may also contribute to the absence of a specific medical school course in the subject; and (3) there is a need for closer collaboration between human genetics educators and their respective medical school administrators and curriculum committees.

Genetics in medical school curriculum: A look at the University of Rochester School of Medicine and Dentistry

Robinson, Deanne M.; Fong, Chin-To
Fonte: Zhejiang University Press Publicador: Zhejiang University Press
Tipo: Artigo de Revista Científica
Publicado em /01/2008 EN
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36.04%
Genetics is assuming an increasingly important role in medicine. As a result, the teaching of genetics should also be increased proportionally to ensure that future physicians will be able to take advantage of the new genetic technology, and to understand the associated ethical, legal and social issues. At the University of Rochester School of Medicine and Dentistry, we have been able to incorporate genetic education into a four-year medical curriculum in a fully integrated fashion. This model may serve as a template for other medical curriculum still in development.

A Medical Genetics Data Base Management System

Kang, K.W.; Merritt, A.D.; Conneally, P.M.; Gersting, J.M.; Rigo, T.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em 09/11/1978 EN
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35.99%
A Medical Genetics Data Base Management System has been developed for genetic counseling and research in the Department of Medical Genetics, Indiana University. The system is designed to store and retrieve information collected on approximately 15,000 families seen over 14 years and helps collect information on clinical and research patients from approximately 1,500 families per year. The data base at the present time includes over 500,000 individuals and the primary information on many of these families is retrievable including family pedigree, genotyping and physical, laboratory diagnostic information.

The routinisation of genomics and genetics: implications for ethical practices

Foster, M W; Royal, C D M; Sharp, R R
Fonte: BMJ Group Publicador: BMJ Group
Tipo: Artigo de Revista Científica
Publicado em /11/2006 EN
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Among bioethicists and members of the public, genetics is often regarded as unique in its ethical challenges. As medical researchers and clinicians increasingly combine genetic information with a range of non‐genetic information in the study and clinical management of patients with common diseases, the unique ethical challenges attributed to genetics must be re‐examined. A process of genetic routinisation that will have implications for research and clinical ethics, as well as for public conceptions of genetic information, is constituted by the emergence of new forms of genetic medicine, in which genetic information is interpreted in a multifactorial frame of reference. Although the integration of genetics in medical research and treatment may be a helpful corrective to the mistaken assumptions of genetic essentialism or determinism, the routinisation of genetics may have unintended consequences for the protection of genetic information, perceptions of non‐genetic information and the loss of genetic research as a laboratory for exploring issues in research and clinical ethics. Consequently, new ethical challenges are presented by the increasing routinisation of genetic information in both biomedical and public spheres.

Medical genetics teaching in Iranian medical schools, especially Ahvaz, south of Iran

BIJANZADEH, MAHDI
Fonte: Shiraz University of Medical Sciences Publicador: Shiraz University of Medical Sciences
Tipo: Artigo de Revista Científica
Publicado em /04/2014 EN
Relevância na Pesquisa
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Introduction: Physicians have to visit, diagnose and refer patients with genetic disorders, so they need to be familiar with the basics and indications of genetic tests. In other words, they should have effective theoretical and practical knowledge about medical genetics before they do their job. Medical genetics courses at Medical Universities of Iran are generally presented as a theoretical subject in the first period of medical education.

John Curtin School of Medical Research at the Australian National University

Photographer: Australian News and Information Bureau, Department of the Interior
Fonte: Universidade Nacional da Austrália Publicador: Universidade Nacional da Austrália
Tipo: Imagem Formato: 16cm x 20.5cm; photograph; b&w
EN_AU
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Here research is carried out in the fields of biochemistry, experimental pathology, genetics, medical chemistry, microbiology, physical biochemistry and physiology.

The history and development of the human genetics society of Australasia

Sutherland, G.
Fonte: Australian Academic Press Pty. Ltd. Publicador: Australian Academic Press Pty. Ltd.
Tipo: Artigo de Revista Científica
Publicado em //2008 EN
Relevância na Pesquisa
46.13%
The Human Genetics Society of Australasia is a vibrant professional society with more than 900 members that promotes and regulates the practice of human and medical genetics in Australia and New Zealand. The growth of human genetics was stimulated by the development of diagnostic clinical cytogenetics laboratories in the early to mid 1960s. This coincided with the recognition by medical specialists, mainly paediatricians, that genetic disorders, especially inborn errors of metabolism and birth defects, were of clinical interest and potentially challenging areas for their skills. The organisation of professionals in human genetics was slow to evolve. There was an early Western Australian Human Genetics Society and the cytogenetics community had begun to meet annually from about 1966 but was coordinated by a mailing list rather than as a formal organisation. In 1976, as part of the celebrations of the Centenary Year of the Adelaide Children’s Hospital, a clinical genetics meeting involving several high profile international speakers and most of the senior medical geneticists in Australia and New Zealand along with the annual meeting of the loose knit cytogeneticists group agreed that a small working group be charged with setting up a Human Genetics Society. The Society was formally incorporated in South Australia in 1977.; Grant R Sutherland

The clinical geneticist and the "new genetics"

Haan, E.
Fonte: Australasian Med Publ Co Ltd Publicador: Australasian Med Publ Co Ltd
Tipo: Artigo de Revista Científica
Publicado em //2003 EN
Relevância na Pesquisa
45.82%
The "new genetics" will provide new genetic tests that can be used for diagnosis, prognosis, treatment selection, carrier and predictive testing in affected families, and potentially for susceptibility testing for later-onset multifactorial disease and population screening. Doctors will increasingly need to consider the family implications of a genetic diagnosis — to identify family members at risk of the disorder or of having affected children and to consider how these individuals might be advised of their situation. Clinical geneticists can be a valuable resource for doctors who need advice about whether genetic testing is available, which tests to pursue, how to access testing services, and how to interpret and act on test results. Clinical geneticists also provide genetic counselling, a process which gives people understandable information about the genetic disorder in the family, and makes the information useful for decision-making given the person's unique circumstances and beliefs. The Internet will increasingly be a key source of information about genetic disorders for patients, their families and healthcare professionals.; http://www.mja.com.au/public/issues/178_09_050503/haa10668_fm.html; Eric A Haan

The role of medical libraries in undergraduate education: a case study in genetics*

Tennant, Michele R.; Miyamoto, Michael M.
Fonte: Medical Library Association Publicador: Medical Library Association
Tipo: Artigo de Revista Científica
Publicado em /04/2002 EN
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36.04%
Between 1996 and 2001, the Health Science Center Libraries and Department of Zoology at the University of Florida partnered to provide a cohesive and comprehensive learning experience to undergraduate students in PCB3063, “Genetics.” During one semester each year, a librarian worked with up to 120 undergraduates, providing bibliographic and database instruction in the tools that practicing geneticists use (MEDLINE, GenBank, BLAST, etc.). Students learned to evaluate and synthesize the information that they retrieved, coupling it with information provided in classroom lectures, thus resulting in well-researched short papers on an assigned genetics topic. Exit surveys of students indicated that the majority found the library sessions and librarian's instruction to be useful. Responses also indicated that the project facilitated increased understanding of genetics concepts and appreciation for the scientific research process and the relevance of genetics to the real world. The library benefited from this partnership on a variety of fronts, including the development of skilled library users, pretrained future clientele, and increased visibility among campus research laboratories. The course and associated information instruction and assigned projects can be considered models for course-integrated instruction and the role of medical libraries in undergraduate education.

Development and Evaluation of a Genetics Literacy Assessment Instrument for Undergraduates

Bowling, Bethany Vice; Acra, Erin E.; Wang, Lihshing; Myers, Melanie F.; Dean, Gary E.; Markle, Glenn C.; Moskalik, Christine L.; Huether, Carl A.
Fonte: Genetics Society of America Publicador: Genetics Society of America
Tipo: Artigo de Revista Científica
Publicado em /01/2008 EN
Relevância na Pesquisa
46%
There is continued emphasis on increasing and improving genetics education for grades K–12, for medical professionals, and for the general public. Another critical audience is undergraduate students in introductory biology and genetics courses. To improve the learning of genetics, there is a need to first assess students' understanding of genetics concepts and their level of genetics literacy (i.e., genetics knowledge as it relates to, and affects, their lives). We have developed and evaluated a new instrument to assess the genetics literacy of undergraduate students taking introductory biology or genetics courses. The Genetics Literacy Assessment Instrument is a 31-item multiple-choice test that addresses 17 concepts identified as central to genetics literacy. The items were selected and modified on the basis of reviews by 25 genetics professionals and educators. The instrument underwent additional analysis in student focus groups and pilot testing. It has been evaluated using ∼400 students in eight introductory nonmajor biology and genetics courses. The content validity, discriminant validity, internal reliability, and stability of the instrument have been considered. This project directly enhances genetics education research by providing a valid and reliable instrument for assessing the genetics literacy of undergraduate students.

Brief of Amici Curiae for the American Medical Association, et al.

Andrews, Lori
Fonte: Universidade Duke Publicador: Universidade Duke
Tipo: Outros
Publicado em 19/02/2013 EN_US
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Amicus ("friend of the court") brief written by American Medical Association, American Society of Human Genetics, American College of Obstetricians and Gynecologists, American Osteopathic Association, American College of Legal Medicine, and the Medical Society of the State of New York in support of petitioners in AMP v. Myriad Genetics (Supreme Court Case Docket No. 12-398).

Brief for American Medical Association, et al., as Amici Curiae in Support of Plaintiffs and Appellees and Arguing for Affirmance

Sarnoff, Joshua D.
Fonte: Universidade Duke Publicador: Universidade Duke
Tipo: Outros
Publicado em 12/12/2010 EN_US
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Amicus ("friend of the court") brief written by the American Medical Association, American Society of Human Genetics, American College of Obstetrics and Gynecologists, American College of Embryology, and the Medical Society of the State of New York, in support of plaintiffs-appellees and arguing for affirmance in AMP v. Myriad Genetics (No. 2010-1406)

Brief of Amici Curiae American Medical Association, et al., in Support of Plaintiffs-Appellees

Fonte: Universidade Duke Publicador: Universidade Duke
Tipo: Outros
Publicado em 15/06/2012 EN_US
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36.01%
Amicus ("friend of the court") brief written by the American Medical Association, American Society of Human Genetics, American College of Obstetricians and Gynecologists, Amercian Osteopathic Association, American College of Legal Medicine, American College of Embryology, and the Medical Society of the State of New York in support of plaintiffs-appellees in AMP v. Myriad Genetics (No. 2010-1406).

Historia de la genética latinoamericana en el siglo XX

Cruz-Coke M,Ricardo
Fonte: Sociedad Médica de Santiago Publicador: Sociedad Médica de Santiago
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/1999 ES
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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...

Human genetics in Johannesburg, South Africa: Past, present and future

Kromberg,J G R; Krause,A
Fonte: SAMJ: South African Medical Journal Publicador: SAMJ: South African Medical Journal
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2013 EN
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Genetic services were set up in Johannesburg, South Africa, in the late 1960s, but only became widespread and formalised after the first Professor of Human Genetics, Trefor Jenkins, was installed at the University of the Witwatersrand in 1974. The first services involved chromosome studies, and these developed into genetic counselling services. Prenatal diagnosis began to be offered, particularly for older women at risk for chromosome abnormalities in the fetus, and those at risk for neural tube defects. Genetic screening was then initiated for the Jewish community because of their high carrier rate for Tay-Sachs disease. Educational courses in human genetics were offered at Wits Medical School, and medical as well as other health professionals began to be trained. Research, supported by national and international bodies, was integral in the activities of the Department (now Division) of Human Genetics and focused on genetic conditions affecting the generally understudied black community. In the late 1980s the first training programme for genetic counsellors was started at MSc level, and postgraduate scientists at MSc and PhD levels studied in and qualified through the Department. At the same time molecular genetic laboratories were set up. In the late 1990s training for medical geneticists was initiated. Extensive high-quality genetic services developed over the four decades were comparable to those of most other departments in developed countries.

The University of Cape Town's contribution to medical genetics in Africa: from the past into the future

Beighton,P; Fieggen,K; Wonkam,A; Ramesar,R; Greenberg,J
Fonte: SAMJ: South African Medical Journal Publicador: SAMJ: South African Medical Journal
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2012 EN
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The Division of Human Genetics (DHG) of the Faculty of Health Sciences, University of Cape Town (UCT) - established in 1972 - recently celebrated its 40th anniversary. We review its history, current status and future objectives. Dr Stuart Saunders, former Professor of Medicine and Vice-Chancellor of UCT, played a pivotal role in initiating the DHG. Dr Peter Beighton served as Professor of Human Genetics from 1972 to 1999. In this period, the initial focus was on medical genetics and the development of cytogenetic, biochemical and molecular laboratories, with the help of Professor Jacquie Greenberg. Fourteen clinical and scientific DHG members obtained doctorates; of these, 8 achieved full professorial status. Current Head of the Department, Professor Raj Ramesar, succeeded to the Chair in 1999. Expansion of the molecular laboratories followed. The DHG now has comprehensive programmes for postgraduate scientific training, research and service. Publications during the lifetime of the DHG include more than 540 articles in peer-reviewed medical, genetic and scientific journals, 20 books and contributions to over 40 chapters/editorials in scientific and medical genetic books

Cuba's Salgen: a provincial informatics network for genetic services to pregnant women and newborns

Rodríguez-Vázquez,Miguel; Pérez,Rubén; Valero,Damicel; Santiago,Darío G.
Fonte: Medical Education Cooperation with Cuba Publicador: Medical Education Cooperation with Cuba
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/10/2014 EN
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The Sancti Spíritus Provincial Medical Genetics Network has been using the Salgen IT platform since 2009 for health care, administrative and research activities concerning pregnant mothers and newborns. The network uses the national Infomed backbone to provide real-time connection between community-based polyclinics in primary health care and the Provincial Medical Genetics Reference Center. The platform has records for 23,025 pregnant women and sequential clinical data on genetic risk assessment in early pregnancy, first trimester ultrasound, sickle cell anemia screening, alpha-fetoprotein levels, cytogenetic antenatal diagnosis, second trimester ultrasound, delivery and newborn characteristics, neonatal metabolic screening, and infant clinical assessment. The system makes health care results immediately available and provides health alerts to enable timely preventive care for pregnant women. It also provides guidelines for processes and practices, and streamlines administrative and monitoring activities through statistical reports. The database generates indicators for assessing fetal growth and applies international standards for antenatal ultrasound quality control. Salgen provides a new source of information for medical research and knowledge management...