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RELAGH - the challenge of having a scientific network in Latin America: an account from the presidents

Rojas-Martínez,Augusto; Giraldo-Ríos,Alejandro; Jiménez-Arce,Gerardo; Falcón de Vargas,Aída; Giugliani,Roberto
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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Latin America and the Caribbean region make up one of the largest areas of the world, and this region is characterized by a complex mixture of ethnic groups sharing Iberian languages. The area is comprised of nations and regions with different levels of social development. This region has experienced historical advances in the last decades to increase the minimal standards of quality of life; however, several factors, such as concentrated populations in large urban centers and isolated and poor communities, still have an important impact on medical services, particularly genetics services. Latin American researchers have greatly contributed to the development of human genetics and historic inter-ethnic diversity, and the multiplicity of geographic areas are unique for the study of gene-environment interactions. As a result of regional developments in the fields of human and medical genetics, the Latin American Network of Human Genetics (Red Latinoamericana de Genética Humana -RELAGH) was created in 2001 to foster the networking of national associations and societies dedicated to these scientific disciplines. RELAGH has developed important educational activities, such as the Latin American School of Human and Medical Genetics (ELAG)...

Human genetics teaching in U.S. medical schools.

Childs, B; Huether, C A; Murphy, E A
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /01/1981 EN
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Information about instruction in genetics was obtained fron 103 of the 107 U.S. four-year medical schools. Seventy-two percent of the schools provide a compulsory course in genetics, but there was great variation in duration, content, departmental responsibility for giving the course, and in the disciplines of those doing the teaching. The variability in the number of hours devoted to teaching genetics was reflected in the competence of the students in giving correct answers to questions on genetics posed by the National Board of Medical Examiners. Electives and continuing education courses on genetics are given by two-thirds and one-half of the schools, respectively; but the subject receives very little attention in departments of preventive, community, or family medicine or in schools of allied health sciences. These findings suggest that genetics has not yet found a natural and comfortable context in the curricula of U.S. medical schools.

Education of nurses in genetics.

Forsman, I
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /10/1988 EN
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The need for education of nurses in genetics was articulated more than 25 years ago. This article reviews the knowledge of practicing nurses about genetics as well as the content of genetics in nursing curricula. Implementation of federal legislation that mandated increased availability of genetic services and genetics education provided support for the examination of genetics content in curricula for health professionals, including nurses, and for the development of model programs to expand this content. Recent efforts to begin to develop a pool of nurse faculty who are well prepared in genetics will be described, as well as programs to provide the necessary content through continuing-education efforts. These efforts are expected to substantially improve the capability of nurses to contribute more effectively in the delivery of genetic services.

Understanding Quantitative Genetics in the Systems Biology Era

Zhu, Mengjin; Yu, Mei; Zhao, Shuhong
Fonte: Ivyspring International Publisher Publicador: Ivyspring International Publisher
Tipo: Artigo de Revista Científica
Publicado em 27/01/2009 EN
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Biology is now entering the new era of systems biology and exerting a growing influence on the future development of various disciplines within life sciences. In early classical and molecular periods of Biology, the theoretical frames of classical and molecular quantitative genetics have been systematically established, respectively. With the new advent of systems biology, there is occurring a paradigm shift in the field of quantitative genetics. Where and how the quantitative genetics would develop after having undergone its classical and molecular periods? This is a difficult question to answer exactly. In this perspective article, the major effort was made to discuss the possible development of quantitative genetics in the systems biology era, and for which there is a high potentiality to develop towards "systems quantitative genetics". In our opinion, the systems quantitative genetics can be defined as a new discipline to address the generalized genetic laws of bioalleles controlling the heritable phenotypes of complex traits following a new dynamic network model. Other issues from quantitative genetic perspective relating to the genetical genomics, the updates of network model, and the future research prospects were also discussed.

Chemical genetics: reshaping biology through chemistry

Florian, Stefan; Hümmer, Stefan; Catarinella, Mario; Mayer, Thomas U.
Fonte: HFSP Publishing Publicador: HFSP Publishing
Tipo: Artigo de Revista Científica
EN
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To understand biological processes, biologists typically study how perturbations of protein functions affect the phenotype. Protein activity in living cells can be influenced in many different ways: by manipulation of the genomic information, by injecting inhibitory antibodies, or, more recently, by the use of ribonucleic acid-medicated interference (RNAi). All these methods have proven to be extremely helpful, as they possess a high degree of specificity. However, they are less suitable for experiments requiring precise timing and fast reversibility of the perturbation. The advantage of small molecules is that they specifically interact with their target on a fast time scale and often in a reversible manner. In the last 15 years, this approach, termed “chemical genetics,” has received a lot of attention. The term genetics pays tribute to the analogy between chemical genetics and the classic genetic approach, where manipulations at the gene level are used to draw conclusions about the function of the corresponding protein. Chemical genetics has only recently been used as a systematic approach in biology. The term was coined in the 1990’s, when combinatorial chemistry was developed as a fast method to synthesize large compound libraries [Mitchison (1994) “Towards a pharmacological genetics...

Closing the Gap: Inverting the Genetics Curriculum to Ensure an Informed Public

Dougherty, Michael J.
Fonte: Elsevier Publicador: Elsevier
Tipo: Artigo de Revista Científica
Publicado em 10/07/2009 EN
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Over the past 20 years, the focus of national efforts to improve K-12 science education has ranged from curriculum and professional development of teachers to the adoption of science standards and high-stakes testing. In spite of this work, students in the United States continue to lag behind their peers in other countries. This underperformance is true for genetics, as well as for science and math in general, and is particularly worrisome given the accelerating need for scientists and engineers in our increasingly technology-driven economy. A scientifically literate public is essential if citizens are to engage effectively with policymakers on issues of scientific importance. Perhaps nowhere is this conjunction more personally meaningful than in human genetics and medicine. Rapid changes in our field have the potential to revolutionize healthcare, but the public is ill prepared to participate in this transformation. One potential solution is to modernize the genetics curriculum so that it matches the science of the 21st century. This paper highlights changes in human genetics that support a curricular reorganization, outlines the problems with current genetics instruction, and proposes a new genetics curriculum.

EVALUATING A HYBRID WEB-BASED BASIC GENETICS COURSE FOR HEALTH PROFESSIONALS

Wallen, Gwenyth R.; Cusack, Georgie; Parada, Suzan; Miller-Davis, Claiborne; Cartledge, Tannia; Yates, Jan
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
EN
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26.38%
Health professionals, particularly nurses, continue to struggle with the expanding role of genetics information in the care of their patients. This paper describes an evaluation study of the effectiveness of a hybrid basic genetics course for healthcare professionals combining web-based learning with traditional face-to-face instructional techniques. A multidisciplinary group from the National Institutes of Health (NIH) created “Basic Genetics Education for Healthcare Providers” (BGEHCP). This program combined 7 web-based self-education modules with monthly traditional face-to-face lectures by genetics experts. The course was pilot tested by 186 healthcare providers from various disciplines with 69% (n=129) of the class registrants enrolling in a pre-post evaluation trial. Outcome measures included critical thinking knowledge items and a Web-based Learning Environment Inventory (WEBLEI). Results indicated a significant (p<0.001) change in knowledge scores. WEBLEI scores indicated program effectiveness particularly in the area of convenience, access and the course structure and design. Although significant increases in overall knowledge scores were achieved, scores in content areas surrounding genetic risk identification and ethical issues regarding genetic testing reflected continued gaps in knowledge. Web-based genetics education may help overcome genetics knowledge deficits by providing access for health professionals with diverse schedules in a variety of national and international settings.

Incorporating Genetics into Your Studies: A Guide for Social Scientists

Dick, Danielle M.; Latendresse, Shawn J.; Riley, Brien
Fonte: Frontiers Research Foundation Publicador: Frontiers Research Foundation
Tipo: Artigo de Revista Científica
Publicado em 09/05/2011 EN
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There has been a surge of interest in recent years in incorporating genetic components into on-going longitudinal, developmental studies and related psychological studies. While this represents an exciting new direction in developmental science, much of the research on genetic topics in developmental science does not reflect the most current practice in genetics. This is likely due, in part, to the rapidly changing landscape of the field of genetics, and the difficulty this presents for developmental scientists who are trying to learn this new area. In this review, we present an overview of the paradigm shifts that have occurred in genetics and we introduce the reader to basic genetic methodologies. We present our view of the current stage of research ongoing at the intersection of genetics and social science, and we provide recommendations for how we could do better. We also address a number of issues that social scientists face as they integrate genetics into their projects, including choice of a study design (candidate gene versus genome-wide association versus sequencing), different methods of DNA collection, and special considerations involved in the analysis of genotypic data. Through this review, we hope to equip social scientists with a deeper understanding of the many considerations that go into genetics research...

Can Genetics and Genomics Nursing Competencies Be Successfully Taught in a Prenursing Microbiology Course?

Shuster, Michèle
Fonte: American Society for Cell Biology Publicador: American Society for Cell Biology
Tipo: Artigo de Revista Científica
Publicado em //2011 EN
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In recognition of the entry into the era of personalized medicine, a new set of genetics and genomics competencies for nurses was introduced in 2006. Since then, there have been a number of reports about the critical importance of these competencies for nursing practices and about the challenges of addressing these competencies in the preservice (basic science) nursing curriculum. At least one suggestion has been made to infuse genetics and genomics throughout the basic science curriculum for prenursing students. Based on this call and a review of the competencies, this study sought to assess the impact of incorporation of genetics and genomics content into a prenursing microbiology course. Broadly, two areas that address the competencies were incorporated into the course: 1) the biological basis and implications of genetic diversity and 2) the technological aspects of assessing genetic diversity in bacteria and viruses. These areas address how genetics and genomics contribute to healthcare, including diagnostics and selection of treatment. Analysis of learning gains suggests that genetics and genomics content can be learned as effectively as microbiology content in this setting. Future studies are needed to explore the most effective ways to introduce genetics and genomics technology into the prenursing curriculum.

The 2012 Thomas Hunt Morgan Medal

Anderson, Kathryn V.
Fonte: Genetics Society of America Publicador: Genetics Society of America
Tipo: Artigo de Revista Científica
Publicado em /06/2012 EN
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The Genetics Society of America annually honors members who have made outstanding contributions to genetics. The Thomas Hunt Morgan Medal recognizes a lifetime contribution to the science of genetics. The Genetics Society of America Medal recognizes particularly outstanding contributions to the science of genetics over the past 31 years. The George W. Beadle Medal recognizes distinguished service to the field of genetics and the community of geneticists. The Elizabeth W. Jones Award for Excellence in Education recognizes individuals or groups who have had a significant, sustained impact on genetics education at any level, from kindergarten through graduate school and beyond. The Novitski Prize recognizes an extraordinary level of creativity and intellectual ingenuity in solving significant problems in biological research through the application of genetic methods. We are pleased to announce the 2012 awards.

Suggested components of the curriculum for nurses and midwives to enable them to develop essential knowledge and skills in genetics

Skirton, Heather; Barnoy, Sivia; Erdem, Yurdagul; Ingvoldstad, Charlotta; Pestoff, Rebecka; Teksen, Fulya; Williams, Jessica
Fonte: Springer-Verlag Publicador: Springer-Verlag
Tipo: Artigo de Revista Científica
EN
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26.38%
Nurses and midwives need to develop specific knowledge and skills in genetics to enable them to offer appropriate healthcare in a range of non-specialist settings. Studies on the topic indicate that while nurses acknowledged the importance of genetics knowledge to their work, both their knowledge and confidence in using such information are poor. Despite the existence of competence frameworks, it appears that educators have struggled with the need to integrate genetics into nursing and midwifery curricula. An expert workshop on genetics education was held to determine the essential components of genetics knowledge and skills that should be incorporated into the pre-registration nursing curriculum in European countries. In this paper we present the essential topics for nurse and midwife pre-registration education and suggest ways in which genetics might be incorporated into the nursing and midwifery curriculum.

The 2013 Thomas Hunt Morgan Medal: Thomas Douglas Petes

Jinks-Robertson, Sue; Hieter, Philip
Fonte: Genetics Society of America Publicador: Genetics Society of America
Tipo: Artigo de Revista Científica
Publicado em /05/2013 EN
Relevância na Pesquisa
26.4%
The Genetics Society of America annually honors members who have made outstanding contributions to genetics. The Thomas Hunt Morgan Medal recognizes a lifetime contribution to the science of genetics. The Genetics Society of America Medal recognizes particularly outstanding contributions to the science of genetics over the past 32 years. The George W. Beadle Award recognizes distinguished service to the field of genetics and the community of geneticists. The Elizabeth W. Jones Award for Excellence in Education recognizes individuals or groups who have had a significant, sustained impact on genetics education at any level, from kindergarten through graduate school and beyond. The Novitski Prize recognizes an extraordinary level of creativity and intellectual ingenuity in solving significant problems in biological research through the application of genetic methods. We are pleased to announce the 2013 awards.

The application of genetics and nutritional genomics in practice: an international survey of knowledge, involvement and confidence among dietitians in the US, Australia and the UK

Collins, Jorja; Bertrand, Brenda; Hayes, Veronica; Li, Sherly X.; Thomas, Jane; Truby, Helen; Whelan, Kevin
Fonte: Springer Berlin Heidelberg Publicador: Springer Berlin Heidelberg
Tipo: Artigo de Revista Científica
EN
Relevância na Pesquisa
26.4%
As a result of expanding scientific understanding of the interplay between genetics and dietary risk factors, those involved in nutritional management need to understand genetics and nutritional genomics in order to inform management of individuals and groups. The aim of this study was to measure and determine factors affecting dietitians’ knowledge, involvement and confidence in genetics and nutritional genomics across the US, Australia and the UK. A cross-sectional study was undertaken using an online questionnaire that measured knowledge and current involvement and confidence in genetics and nutritional genomics. The questionnaire was distributed to dietitians in the US, Australia and the UK using email lists from the relevant professional associations. Data were collected from 1,844 dietitians who had practiced in the previous 6 months. The main outcomes were knowledge of genetics and nutritional genomics and involvement and confidence in undertaking clinical and educational activities related to genetics and nutritional genomics. Mean scores for knowledge, involvement and confidence were calculated. Analysis of variance and χ2 analysis were used to compare scores and frequencies. Multivariate linear regression was used to determine predictors of high scores. The results demonstrated significant differences in involvement (p < 0.001) and confidence (p < 0.001) but not knowledge scores (p = 0.119) between countries. Overall...

God and Genes in the Caring Professions: Clinician and Clergy Perceptions of Religion and Genetics

Bartlett, Virginia L; Johnson, Rolanda L
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em 15/02/2009 EN
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Little is known about how care providers’ perceptions of religion and genetics affect interactions with patients/parishioners. This study investigates clinicians’ and clergy’s perceptions of and experiences with religion and genetics in their clinical and pastoral interactions. An exploratory qualitative study designed to elicit care providers’ descriptions of experiences with religion and genetics in clinical or pastoral interactions. Thirteen focus groups were conducted with members of the caring professions: physicians, nurses, and genetics counselors (clinicians), ministers and chaplains (clergy). Preliminary analysis of qualitative data is presented here. Preliminary analysis highlights four positions in professional perceptions of the relationship between science and faith. Further, differences among professional perceptions appear to influence perceptions of needed or available resources for interactions with religion and genetics. Clinicians’ and clergy’s perceptions of how religion and genetics relate are not defined solely by professional affiliation. These non-role-defined perceptions may affect clinical and pastoral interactions, especially regarding resources for patients and parishioners.

Ancestry, Temporality, and Potentiality: Engaging Cancer Genetics in Southern Brazil

Gibbon, Sahra
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /10/2013 EN
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26.4%
In this paper I examine the variety of ways potential is articulated, entailed, and produced in how the field of cancer genetics is being constituted as a domain of transnational research and an emerging site of health-care intervention in southern Brazil. Drawing on analysis of fieldwork in Brazilian cancer-genetics clinics, I explore how different expressions of potential come to inform dynamically the pursuit of prevention, care, and research as diversely scaled investments for those working and living with cancer-genetics knowledge and technologies. It illustrates how specific temporalities help to constitute and “abductively” frame the meaning of these different potentials particularly as this relates to a focus on ancestry. Colonial histories of migration, the embodied effects of dietary habits, or the moral failings of near and distant ancestors as well as promissory futures and the contingency of lived lives become at different times templates for identifying, materializing, and transforming how the potential of cancer genetics in Brazil is articulated. Potential is also expressed through an idiom of “choice” in different efforts to situate participation in cancer-genetics research as prevention or to negotiate access to basic public health. I explore how these expressions of cancer genetics as potential powerfully yet unevenly work to sustain knowledge practices as well as propel patients and their families into fledgling domains of clinical practice and scientific research. At the same time there is always an “excess of meaning” in these endeavors that make visible lines of fracture and disjuncture in collective efforts to make future histories of and from the pursuit of cancer genetics in southern Brazil.

Stroke Genetics: A Review and Update

Lindgren, Arne
Fonte: Korean Stroke Society Publicador: Korean Stroke Society
Tipo: Artigo de Revista Científica
EN
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26.4%
Stroke genetics includes several topics of clinical interest, including (1) molecular genetic variations affecting risk of monogenic stroke syndromes; (2) molecular genetic variations affecting risk of common stroke syndromes, sometimes with specific effects on risk of specific main types of stroke or subtypes of ischemic and hemorrhagic stroke; (3) genetics of conditions associated with stroke risk e.g. white matter hyperintensities, atrial fibrillation and hypertension; (4) hereditary causes of familial aggregation of stroke; (5) epigenetic impact on protein expression during acute brain injury; (6) genetic influence on stroke recovery; and (7) pharmacogenetics. Genetic research methods include candidate gene studies; Genome Wide Association Studies; family studies; RNA and protein analyses; and advanced computer-aided analytical methods to detect statistically significant associations. Several methods that could improve our knowledge of stroke genetics are being developed e.g.: Exome content analysis; Next-generation sequencing; Whole genome sequencing; and Epigenetics. During 2012-2014, several Single Nucleotide Polymorphisms (SNPs) have been related to common ischemic stroke risk. Certain SNPs have been associated with risk of specific ischemic stroke subtypes such as large vessel disease and cardiac embolism...

The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods

Dietrich, Andrea; Fernandez, Thomas V.; King, Robert A.; State, Matthew W.; Tischfield, Jay A.; Hoekstra, Pieter J.; Heiman, Gary A.;
Fonte: Springer Berlin Heidelberg Publicador: Springer Berlin Heidelberg
Tipo: Artigo de Revista Científica
EN
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Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive–compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Based on recent progress in many other common disorders with apparently similar genetic architectures, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent–child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA) are part of a sharing repository located within the National Institute for Mental Health Center for Collaborative Genomics Research on Mental Disorders...

The Politics of the Gene: Social Status and Beliefs about Genetics for Individual Outcomes

SHOSTAK, SARA; FREESE, JEREMY; LINK, BRUCE G.; PHELAN, JO C.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /03/2009 EN
Relevância na Pesquisa
26.38%
Social scientists have predicted that individuals who occupy socially privileged positions or who have conservative political orientations are most likely to endorse the idea that genes are the root cause of differences among individuals. Drawing on a nationally representative sample of the US population, this study examines belief in the importance of genes for understanding individual differences in a series of broad domains: physical illness, serious mental illness, intelligence, personality, and success in life. We also assess whether the belief that genetics are important for these outcomes is more common among those in relatively advantaged positions or among those who are more politically conservative. Finally, we consider whether such beliefs predict attitudes toward genetics-related social policies. Our analyses suggest that belief in the importance of genetics for individual differences may well have a substantial effect on attitudes toward genetics-related policies, independent of political orientation or other measures. Our study identifies high levels of endorsement for genes as causes of health and social outcomes. We describe a cultural schema in which outcomes that are “closer to the body” are more commonly attributed to genetics. Contrary to expectations...

Imaging genetics in adult attention-deficit/hyperactivity disorder (ADHD): a way towards pathophysiological understanding?

Dresler, Thomas; Barth, Beatrix; Ethofer, Thomas; Lesch, Klaus-Peter; Ehlis, Ann-Christine; Fallgatter, Andreas J
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artigo de Revista Científica
Publicado em 12/05/2014 EN
Relevância na Pesquisa
26.4%
Attention-deficit/hyperactivity disorder (ADHD) is a common, early-onset and enduring developmental disorder whose underlying etiological and neurobiological processes are the current focus of major research. Research strategies have made considerable effort in elucidating the complex genetic architecture of ADHD and indicate various pathways from genotype to phenotype. Understanding ADHD as a neuropsychiatric disorder enabled to investigate markers of neural activity as endophenotypes to better explain the link from gene to symptomatology (the so-called imaging genetics approach). Overcoming the originally rather restrictive requirements for an endophenotype, imaging genetics studies are supposed to offer a much more flexible and hypothesis-driven approach towards the etiology of ADHD. Although 1) ADHD often persists into adulthood, thus remaining a prevalent disorder, and 2) imaging genetics provides a promising research approach, a review on imaging genetics in adult ADHD – as available for childhood ADHD (Durston 2010) – is lacking. In this review, therefore, findings from the few available imaging genetics studies in adult ADHD will be summarized and complemented by relevant findings from healthy controls and children with ADHD that are considered important for the adult ADHD imaging genetics approach. The studies will be reviewed regarding implications for basic research and possible practical applications. Imaging genetics studies in adult ADHD have the potential to further clarify pathophysiological pathways and mechanisms...

Physiological Aspects of Genetics

Beadle, G. W.
Fonte: Instituto de Tecnologia da Califórnia Publicador: Instituto de Tecnologia da Califórnia
Tipo: Article; PeerReviewed Formato: application/pdf
Publicado em /03/1960
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In its concern with the physical, chemical, and biological nature of the specifications which living systems transmit from one generation to the next, genetics has come to play a central role in modern biology. Progress is being made so rapidly that it is almost impossible for a single individual to keep abreast of advances on all fronts. This review is prepared for physiologists and others who are not primarily specialists in genetics. It will attempt to survey in a general way some of the advances that seem to the author to be of particular interest and importance. In no sense wilI it cover all of significance in genetics that has happened in the three years since the preparation of the previous review of genetics for this series (1). Fortunately a number of excellent summaries of progress in particular branches of genetics have recently appeared or are in preparation. These, rather than more technical papers, will often be cited as convenient sources of additional information. Pontecorvo’s Jesup Lectures (2) provide an excellent survey of newer approaches to genetic analysis. Ravin (3) and Wheeler (4) have recently viewed work on the genetics of bacteria and fungi, and Levinthal has surveyed the general situation, especially for physicists and other non-geneticists (5). Fincham (6) has in press a summary of the genetics of enzyme activity.