Progressive supranuclear palsy is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP and 3,247 controls followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the (...) stage 1 SNPs that yielded P ≤ 10-3. We found significant previously unidentified signals associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component. © 2011 Nature America, Inc. All rights reserved. (shrink)

Recombinant DNA technology will soon allow physicians an opportunity to carry out both somatic cell- and Germ-Line gene therapy. While somatic cell gene therapy raises no new ethical problems, gene therapy of gametes, fertilized eggs or early embryos does raise several novel concerns. The first issue discussed here relates to making a distinction between negative and positive eugenics; the second issue deals with the evolutionary consequences of lost genetic diversity. In distinguishing between positive and negative eugenics, the concept of malady (...) is applied as a definitional criterion for identifying genetic disorders that could qualify for Germ-Line therapy. Because gene replacement techniques are currently unavailable for humans, and because even if they were possible the number of people involved would be quite small, the loss of diversity concern seems moot. Finally, we dissuss the issue of iatrogenic disorders associated with gene therapy and discuss several ‘real world considerations.’. (shrink)

The right not to know is underappreciated in policy-making. Despite its articulation in medical law and ethics, policy-makers too easily let other concerns override the right not to know. This observation is triggered by a recent decision of the Dutch government on embryo selection for Huntington’s disease. This is a monogenetic debilitating disease without cure, leading to death in early middle age, and thus is a likely candidate for preimplantation genetic diagnosis. People possibly affected with the Huntington gene do not (...) always want to know their genetic status themselves, which is very burdensome knowledge. For prospective parents, this creates a difficulty in having unaffected children through embryo selection without knowing their own genetic status. A solution is provided by the exclusion test: it allows embryo selection while honouring the parents’ right not to know. The Dutch government however disallowed the exclusion test and chose to allow PGD on Huntington only for parents who test themselves first. To avoid “unnecessary” in-vitro fertilisation procedures for unaffected parents, prospective parents are “forced to know” before they can conceive through embryo selection. This article analyses the scope of the right not to know in the context of embryo selection against Huntington’s disease. It concludes that the right not to know implies that PGD against Huntington should be allowed by means of the exclusion test. (shrink)

Genetics and genetic testing raise key issues for insurance and employment. Governmental and public concern galvanised the British insurance industry into developing a code of practice. The history of the development of the code, issues of genetic discrimination, access to medical information, consent and the dangers of withholding information and the impact on the equity of pooled risk are explored. Proactive steps by the Association of British Insurers suggest that moral reflection not legislation is the way forward.

De Vries' mutation theory has not stood the test of time. The supposed mutations of Oenothera were in reality complex recombination phenomena, ultimately explicable in Mendelian terms, while instances of large-scale mutations were found wanting in other species. By 1915 the mutation theory had begun to lose its grip on the biological community; by de Vries' death in 1935 it was almost completely abandoned. Yet, as we have seen, during the first decade of the present century it achieved an enormous (...) popularity. As this paper has tried to suggest, one of the principal reasons for this was that de Vries' theory served as a banner around which a whole crowd of disaffected Darwinians or anti-Darwinians could rally. However, not all of those who favored de Vries did so for quite the same reasons. Underlying the multitude of views ran several common threads: a dissatisfaction with current Darwinian theory born out of misunderstanding natural selection, a general misunderstanding of the nature of species, and a prejudice against speculative, nontestable theories in biology.Supporters of de Vries were not the only opponents of Darwinism, nor was the mutation theory the only alternative to natural selection. In the early twentieth century a number of theories had been proposed to explain away the problems which Darwin had left unsolved. There was the idea of orthogenesis, championed by the American paleontologists Cope, Osborn and others; organic selection (or orthoplasy) was championed by M. M. Baldwin and C. Lloyd Morgan; there were the concepts of convergent evolution proposed by Hermann Friedmann, the theory of physiological selection by John George Romanes, and the concepts of reproductive divergence by H. M. Vernon. Virtually none of these men either accepted or were strong supporters of the de Vriesian theory, for each had his own particular ‘ism” to advocate as the major factor in evolution. The existence of a large number of such theories, each purporting to be the explanation, was characteristic of evolutionary theory at the turn of the century. It is to a large extent the emphasis on such fragmentary concepts that retarded development of the comprehensive theory of evolution which emerged in the 1920's and 1930's. For the historian, however, a study of these alternative theories is instructive in trying to understand the inherent difficulties which Dawwinian theory posed to biologists at the time. De Vries' mutation theory serves historically as a mirror to reflect the critical mood of a generation hostile to the theory of natural selection.It has often been claimed that it was impossible to understand the mechanism of natural selection until it could be placed in genetic and mathematical terms. It is certainly true that great strides have been made in population genetics and the treatment of evolutionary concepts with mathematical tools in the last forty years. But the very people who developed the genetical and mathematical approach to evolution were already convinced of the essential correctness of Darwinian theory before they started. Advances in an understanding of Mendelian heredity aided greatly in solving one important issue for evolutionists: the origin of variations. And the rigor with which selection acted could best be studied by observing changes in gene frequencies (calculated mathematically) over a number of generations. But as this paper has shown, two of the basic problems which biologists faced in evaluating Darwinian theory at the turn of the century-the nature of species, and the criteria of what constituted an acceptable explanation in biological science-could not be answered directly by mathematics. What mathematical and genetical theory did do was to help convince the skeptics of the validity of the Darwinian proposition.The change in explanatory criteria which many hailed as de Vries' most important contribution to evolutionary theory seems to have been part of a general emergence of twentieth-century biology from the domination of theorizers in the nineteenth. It also marked the emergence of America from the domination of biological, and particularly evolutionary, influence of Europeans. The change occurred in three areas: in the kinds of questions asked: testable versus non-testable; in the kind of data sought: quantitative versus qualitative; and in the kinds of theories proposed: analytical and reductive—the attempt to see complex processes in terms of simpler components-as opposed to synthetic and speculative. Although ultimately wrong in his idea, de Vries and his theories rode high on the wave of “experimentalism” which was the harbinger of a new era in evolutionary theory. (shrink)

The long-awaited revision of the industry standard on phylogenetics Since the publication of the first edition of this landmark volume more than twenty-five years ago, phylogenetic systematics has taken its place as the dominant paradigm of systematic biology. It has profoundly influenced the way scientists study evolution, and has seen many theoretical and technical advances as the field has continued to grow. It goes almost without saying that the next twenty-five years of phylogenetic research will prove as fascinating as the (...) first, with many exciting developments yet to come. This new edition of Phylogenetics captures the very essence of this rapidly evolving discipline. Written for the practicing systematist and phylogeneticist, it addresses both the philosophical and technical issues of the field, as well as surveys general practices in taxonomy. Major sections of the book deal with the nature of species and higher taxa, homology and characters, trees and tree graphs, and biogeography—the purpose being to develop biologically relevant species, character, tree, and biogeographic concepts that can be applied fruitfully to phylogenetics. The book then turns its focus to phylogenetic trees, including an in-depth guide to tree-building algorithms. Additional coverage includes: Parsimony and parsimony analysis Parametric phylogenetics including maximum likelihood and Bayesian approaches Phylogenetic classification Critiques of evolutionary taxonomy, phenetics, and transformed cladistics Specimen selection, field collecting, and curating Systematic publication and the rules of nomenclature Providing a thorough synthesis of the field, this important update to Phylogenetics is essential for students and researchers in the areas of evolutionary biology, molecular evolution, genetics and evolutionary genetics, paleontology, physical anthropology, and zoology. (shrink)

In this article, the author focuses on the allocation of decision-making authority between parents and physicians. She argues that parents should have substantial room to decide whether genetic testing is good for their child and that they may appropriately consider interests in addition to those of their child in making such choices. A physician, however, may refuse to act pursuant to parental views about testing, when in the physician's view, the parents' choices would pose a risk of significant harm to (...) the child. The balance of control between parents and physicians is illustrated by discussion of a series of case vignettes. Refusal to perform requested testing is most often warranted for testing for carrier status and for genetic predisposition to late onset disease. The author concludes her analysis by discussing why it is appropriate to give increasing deference to the views of the child as the child grows older. (shrink)

The theory of intentionality is the most important core of the theoretical inheritance of E. Husserl’s phenomenology. Starting from this awareness, Levinas carries out a deep research within the phenomenology in order to see whether «intentionality exhausts modalities in which the thought is meaningful». This paper will try to show how the French-Lituan philosopher, going over the genetic phenomenology research which comes to a precategorial issue, can point out the «pre-intentional», or better the «non-intentional», the original «passivity» of conscience which (...) is not the negation of subjectivity, but instead the possibility of «giving» of transcendency. This «would not be a missed immanency», but would have in sociality – responsibility of the neighbour – the own spiritual excellency, which is the perfection of God. (shrink)

The caliber of recent discourse regarding geneticallymodified organisms (GMOs) has suffered from a lack of consensuson terminology, from the scarcity of evidence upon which toassess risk to health and to the environment, and from valuedifferences between proponents and opponents of GMOs. Towardsaddressing these issues, we present the thesis that GM should bedefined as the forcible insertion of DNA into a host genome,irrespective of the source of the DNA, and exclusive ofconventional or mutation breeding.Some defenders of the commercial use of GMOs (...) have referred to thescientific work of GMO critics as ``junk science.'''' Such a claim isfalse and misleading, given that many papers critical of both theutility and safety of GMOs have been published in peer reviewedjournals by respected scientists. In contrast, there is a dearthof peer reviewed work to substantiate the frequently heardassertions of either safety or utility in GMOs. The polarity,which now characterizes much of the public discourse on GMOs,reflects not simply scientific disagreement, but alsodisagreement in underlying value assumptions. Value differencesstrongly affect the assessment of both benefit and harm fromGMOs. (shrink)

The possibility of early diagnosis and intervention is radically changed by the advent of genetic testing. The recent report of the Nuffield Council on Bioethics is timely and helpful. I have suggested, that not only the severity of the disability indicated by genetic information, and the accuracy of the data, ought to govern the approach to the implementation of screening for genetic disorders. In addition, assessment of the value of the information to those involved should be considered. The efficacy of (...) the available therapeutic measures, combined with the prognostic data are important indices of the value of the information. These measures fall into three categories and thus indicate that three different courses of intervention may be appropriate. Three approaches to diagnosis and intervention are then outlined, drawing on the experience of various clinical initiatives. (shrink)

We may now ask the question: In what historical perspective should we place the work of Richard Goldschmidt? There is no doubt that in the period 1910–1950 Goldschmidt was an important and prolific figure in the history of biology in general, and of genetics in particular. His textbook on physiological genetics, published in 1938, was an amazing compendium of ideas put forward in the previous half-century about how genes influence physiology and development. His earlier studies on the genetic and geographic (...) distribution of the various species and races of Lymantria contributed soundly to an understanding of the inheritance and development of sex, as well as the genetics of speciation. He was a curious mixture of the experimentalist, empiricist, and theorizer, who could grasp both the large and the small at once and wrap them into the same integrated and coherent package.In insisting on trying to relate genetics to development, Goldschmidt was continually forced to speculate and to forsake experimental fact for generalized theory. In refusing to reconcile a physiological and developmental conception with a corpuscular theory of the gene, he forced himself to substitute for a large body of experimentally verified evidence, vague and general speculations which did not lead in any precise direction. L. C. Dunn summarizes succinctly the effect of Goldschmidt's thinking on the development of genetic theory: Although Goldschmidt's ideas had a considerable influence in directing attention to the developmental processes intervening between genes and characters, they did not lead to the establishment of a general theory of development in genetical terms. In fact, at the end of the period, as signalized by Goldschmidt's book of 1938 [Physiological Gentics] doubt remained whether there was a field with a defined problem which could be identified as developmental genetics.Yet the frequency with which Goldschmidt is cited by later writers suggests that there is a more positive side to his contribution than this. The early Mendelians had recognized the genic constitution of organisms and the Drosophila workers had uncovered in detail the chromosomal mechanism of heredity. These great discoveries were of classical character, solidly based on a multitude of well established facts. By themselves, however, they would not have been sufficient to place genetics in the central position within biology which it was to assume. Beyond the “static” analysis of gene transmission an insight was needed into the dynamic role of genes in cellular physiology, biochemistry, and development. Goldschmidt recognized this aspect and outlined in brilliant generalizations a physiological theory of genetics. Necessarily the prophetic nature of this achievement — romantic in the sense of Ostwald's classification of great scientists and their discoveries — transcended its factual basis. It was the audacity of the theoretician unimpeded by the still scanty data which gave a new focus to biological thought.Some have called Goldschmidt an “obstructionist” in the history of genetics—one whose efforts were largely directed toward useless and continual criticism — challenge for the sake of challenge. As this line of argument goes, time wasted answering Goldschmidt's poorly conceived criticisms could have been better used to pursue new lines of thought within the classical gene theory. Sometimes historians are upbraided for studying the work of such “obstructionists,” or even the work of those whose ideas have later proved to be inadequate. This argument misses the point of history and the lessons which it can teach. Perhaps Goldschmidt did take the time of a number of the classical geneticists who tried to answer his objections to the gene theory; and perhaps many of his own ideas about genes were, by today's view, “wrong.” These are always easier judgments to make by hindsight than at the moment. But that is not the point. Goldschmidt had a considerable influence on his contemporaries, and to dismiss him as an obstructionist because his opponents later proved to be more nearly right, distorts history and obscures significant questions which we might well be asking. It might be valuable to know why Goldschmidt felt compelled to be an iconoclast —and how that impulse, psychological in orgin, led him to overlook critical items of evidence which his opponents considered more carefully. It might also be valuable to try and understand how a contemporary of Goldschmidt or. Morgan really viewed the gene theory — what were its strong and weak point? Such questions are not readily answered by studying the work of only those men who were correct by later standards.Answers to some of the above questions can be gleaned from this study of Goldschmidt — though the first, and most psychologically oriented, question is largely untouched here.On the one hand, Goldschmidt forced classical geneticists to reexamine the foundation of their ideas about the nature, inviolability, and even physical dimensions of genes. He also kept alive the very real problems of gene physiology and its relations to development — a relationship that was given less attention by the Drosophila school in their pursuit of the transmission process. On a broader level he emphasized to the biological community a principle that was in danger of being lost in the enthusiasm surrounding the expansion of the Mendelian-chromosome theory. The point was that all theories in science are transient, logical constructs which should not be held as sacred. Time and again, as the history of science has shown, theories become rigid structures which retard new modes of thought. From Goldschmidt's perspective, the gene theory was in danger of performing just that function, for it was preventing workers from viewing the gene in a functional as well as a structural light.On the other hand, examining the work of critics (or even of outright “obstructionists”) gives the historian an opportunity to observe how the more established community of scholars at some point in time reacts to challenges of its cherished ideas. The fact that many workers in his own day (such as Beadle, Luria, Delbruck, Sturtevant, Bridges, and others), as well as most geneticists today, saw Goldschmidt as having been largely “obstructionist” is useful historical (and/or sociological) data. Clearly, as this paper has tried to show, Goldschmidt's ideas were not all obstructionist, and his viewpoint that genes must be considered functionally was one which was clearly valid, premature as it may have been from an experimental and technique point of view. Perhaps Goldschmidt's major fault was that he developed alternative theories which were not easily testable. Nonetheless, his challenge to a fundamental and established idea brought forth a reaction from many members of the genetic community which indicates how unwilling they were to reconsider the formalized theory on which their work was based. While many of Goldschmidt's criticisms — and particularly his way of making them — arose out of his own idiosyncrasies, they were also a product of his times. His view of the nature of theory-construction, and his rejection of old-style reductionism and mechanism, were part of a growing awareness within the world scientific community that explanations based on reducing complex phenomena to ultimate particles or units were clearly inadequate. The success of the Mendelian-chromosome theory had obscured that fact for many geneticists, but to Goldschmidt it was a point that could not be allowed to pass unnoticed. (shrink)

We would like to thank the authors of the excellent Open Peer Commentaries on our target article, “Implementing Expanded Prenatal Genetic Testing: Should Parents Have Access to Any and All Fetal Ge...

Scientific research and ethics -- Ethical theory and decision making -- Data acquisition and management -- Mentoring and professional relationship -- Collaboration in research -- Authorship -- Publication and peer review -- Misconduct in research -- Intellectual property -- Conflicts of interest and scientific objectivity -- The use of animals in research -- The use of human subjects in research -- The use of vulnerable subjects in research -- Genetics, cloning, and stem cell research -- International research.

(2001). Family Covenants and Genetic Testing: Utilizing the Skills Of Counseling Professionals in Implementing Family Covenants. The American Journal of Bioethics: Vol. 1, No. 3, pp. 1-2.

Prenatal genetic testing is becoming available for an increasingly broad set of diseases, and it is only a matter of time before parents can choose to test for hundreds, if not thousands, of genetic conditions in their fetuses. Should access to certain kinds of fetal genetic information be limited, and if so, on what basis? We evaluate a range of considerations including reproductive autonomy, parental rights, disability rights, and the rights and interests of the fetus as a potential future child. (...) We conclude that parents should be able to access information that could be useful during pregnancy, but that testing for non-medical information should be limited. Next, we argue that the government lacks a compelling state interest in regulating prenatal genetic testing and propose that regulation should occur through medical professional organizations. Finally, we present a framework for determining what testing physicians should recommend, offer neutrally, or not offer at all. (shrink)

This article illustrates in which sense genetic determinism is still part of the contemporary interactionist consensus in medicine. Three dimensions of this consensus are discussed: kinds of causes, a continuum of traits ranging from monogenetic diseases to car accidents, and different kinds of determination due to different norms of reaction. On this basis, this article explicates in which sense the interactionist consensus presupposes the innate?acquired distinction. After a descriptive Part 1, Part 2 reviews why the innate?acquired distinction is under attack (...) in contemporary philosophy of biology. Three arguments are then presented to provide a limited and pragmatic defense of the distinction: an epistemic, a conceptual, and a historical argument. If interpreted in a certain manner, and if the pragmatic goals of prevention and treatment are taken into account, then the innate?acquired distinction can be a useful epistemic tool. It can help, first, to understand that genetic determination does not mean fatalism, and, second, to maintain a system of checks and balances in the continuing nature?nurture debates. (shrink)

The subjectivity or “purpose dependency” of measurement in biology is discussed using examples from high-dimensional medical genetic research. The human observer and study designer tacitly determine the numerical and graphical representation of biological simplicity or complexity via choice of ascertainment , numbers to measure, referential basis, statistical learning formalism and feature search, and also via the selection of display styles for all these quantifications.

This article reconsiders the theoretical role of the genetic code. By drawing on published and unpublished sources from the 1950s, I analyse how the code metaphor was actually employed by the scientists who first promoted its use. The analysis shows that the term ‘code’ picked out mechanism sketches, consisting of more or less detailed descriptions of ordinary molecular components, processes, and structural properties of the mechanism of protein synthesis. The sketches provided how-possibly explanations for the ordering of amino acids by (...) nucleic acids. I argue that employing the code metaphor was justified in virtue of its descriptive-denotational and explanatory roles, and because it highlighted a similarity with conventional codes that was particularly salient at the time. 1 Introduction2 Coding Schemes in the 1950s2.1 The research problem: Determining amino acid sequences2.2 The solution: Mapping schemes or ‘codes’3 The Code Metaphor Played Descriptive and Explanatory Roles4 Theness of Codes and the Expendability of the Code Metaphor5 The Role of Arbitrariness6 Conclusions. (shrink)

The 'developmental systems' perspective in biology is intended to replace the idea of a genetic program. This new perspective is strongly convergent with recent work in psychology on situated/embodied cognition and on the role of external 'scaffolding' in cognitive development. Cognitive processes, including those which can be explained in evolutionary terms, are not 'inherited' or produced in accordance with an inherited program. Instead, they are constructed in each generation through the interaction of a range of developmental resources. The attractors which (...) emerge during development and explain robust and/or widespread outcomes are themselves constructed during the process. At no stage is there an explanatory stopping point where some resources control or program the rest of the developmental cascade. 'Human nature' is a description of how things generally turn out, not an explanation of why they turn out that way. Finally, we suggest that what is distinctive about human development is its degree of reliance on external scaffolding. (shrink)

Synaesthesia is a neurodevelopmental condition characterised by anomalous sensory perceptions and associated alterations in cognitive function. This chapter summarises what is known about the familial transmission of synaesthesia and its genetic underpinnings. Early familiality studies showed evidence for a strong genetic predisposition, a highly skewed female: male ratio, and an absence of male-to-male transmission. These patterns supported an early hypothesis of a single-gene X-linked dominant mode of inheritance with male lethality. Subsequent analyses in larger samples indicated that the mode of (...) inheritance was likely to be more complex, with both the strong female skew and absence of male-to-male transmission brought into question. We review in detail the first whole genome linkage scan for auditory-visual synaesthesia and a subsequent family linkage study on coloured sequence synaesthesia. Together these results suggest linkage to five chromosomes but give no support for linkage to the X-chromosome. We discuss candidate genes within these regions and potential implications for the aetiology of synaesthesia. We also discuss the implications of these pioneering genome scans for our understanding of synaesthesia and of how different synaesthetic phenotypes may arise from different genetic predispositions interacting with other genes and with the environment. (shrink)

The stories in this volume shed light on the potential of narrative inquiry to fill gaps in knowledge, particularly given the mixed results of quantitative research on patient views of and experiences with genetic and genomic testing. Published studies investigate predictors of testing (particularly risk perceptions and worry); psychological and behavioral responses to testing; and potential impact on the health care system (e.g., when patients bring DTC genetic test results to their primary care provider). Interestingly, these themes did not dominate (...) the narratives published in this issue. Rather, these narratives included consistent themes of expectations and looking for answers; complex emotions; areas of contradiction and conflict; and family impact. More narrative research on patient experiences with genetic testing may fill gaps in knowledge regarding how patients define the benefits of testing, changes in psychological and emotional reactions to test results over time, and the impact of testing on families. (shrink)

The fact that genes and environment contribute differentially to variation in human behaviors, traits and attitudes is central to the field of behavior genetics. Perceptions about these differential contributions may affect ideas about human agency. We surveyed two independent samples (N = 301 and N = 740) to assess beliefs about free will, determinism, political orientation, and the relative contribution of genes and environment to 21 human traits. We find that lay estimates of genetic influence on these traits cluster into (...) four distinct groups, which differentially predict beliefs about human agency, political orientation, and religiosity. Despite apparent ideological associations with these beliefs, the correspondence between mean lay estimates and published heritability estimates for the surveyed traits is large (r = .77). Belief in genetic determinism emerges as a modest predictor of accuracy in these lay estimates. Additionally, educated mothers with multiple children emerge as particularly accurate in their estimates of the genetic contribution to these traits. (shrink)

Society has historically not taken a benign view of genetic disease. The laws permitting sterilization of the mentally re tarded~ and those proscribing consanguineous marriages are but two examples. Indeed as far back as the 5th-10th centuries, B.C.E., consanguineous unions were outlawed (Leviticus XVIII, 6). Case law has traditionally tended toward the conservative. It is reactive rather than directive, exerting its influence only after an individual or group has sustained injury and brought suit. In contrast, state legislatures have not been (...) inhibited in enacting statutes. Many of their products can be characterized as hasty, unnecessary, ill-conceived, and based on the heart rather than the head. Moreover the lack of expert consultation sought has also been remarkable. One state legislature, for example, has advocated immunization for sickle cell anemia! Many others have enacted laws for the screening of inborn errors of metabolism, e.g., phenylketon uria, but have poorly defined the lines of responsibility to secure compliance. A spate of specific disease-related bills has emerged in the u.S. Congress, each seeking recognition and appropriations. Sickle cell anemia, hemophilia, Cooley's anemia and Tay-Sachs disease have been among the front-runners for support. Finally, in 1975, Congress has begun to examine an omnibus bill concerning all forms of genetic disease. The bill, termed the National Genetic Diseases Act is, however, still far from being enacted. (shrink)

The concept of genetic information is controversial because it attributes semantic properties to what seem to be ordinary biochemical entities. I argue that nucleic acids contain information in a semantic sense, but only about a limited range of effects. In contrast to other recent proposals, however, I analyze genetic information not in terms of a naturalized account of biological functions, but instead in terms of the way in which molecules determine their products during processes known as template-directed syntheses. I argue (...) that determining an outcome in a certain way is constitutive for being an instruction. On this account, the content of genetic information is identified with the template's properties, which determine the product in the way constitutive for instructions. (shrink)

This book is a comprehensive, empirically-grounded exploration of the relationship between bioethics, culture, and the perspective of being affected. It provides a new outlook on how complex "bioethical" issues become questions of everyday life. The authors focus on two contexts, genetic testing and end-of-life care, to locate and demonstrate emerging themes of responsibility, such as self-responsibility, responsibility for kin, and the responsibility of society. Within these themes, the duty to know versus the right not to know one's genetic fate (in (...) the context of genetic testing), or the sanctity of life versus self-determination (in the context of end of life care) are identified as culturally embedded dilemmas that are very much relevant for lay persons. Furthermore, cultural factors such as religion, history, utopian and dystopian views of biomedical technologies, outlooks on the body and on health/illness, and citizenship are examined. Health issues are increasingly becoming a question of assessing risk and responsibility: How can we better prepare ourselves for the future? We all make such assessments in a way that combines personal inclinations, professional recommendations, and cultural framings. There is still much to be learned about the interplay between these three dimensions. (shrink)

In this paper, rather than focusing on genes as an organising concept around which historical considerations of theory and practice in genetics are elucidated, we place genetic markers at the heart of our analysis. This reflects their central role in the subject of our account, livestock genetics concerning the domesticated pig, Sus scrofa. We define a genetic marker as a element existing in different forms in the genome, that can be identified and mapped using a variety of quantitative, classical and (...) molecular genetic techniques. The conjugation of pig genome researchers around the common object of the marker from the early-1990s allowed the distinctive theories and approaches of quantitative and molecular genetics concerning the size and distribution of gene effects to align in projects to populate genome maps. Critical to this was the nature of markers as ontologically inert, internally heterogeneous and relational. Though genes as an organising and categorising principle remained important, the particular concatenation of limitations, opportunities, and intended research goals of the pig genetics community, meant that a progressively stronger focus on the identification and mapping of markers rather than genes per se became a hallmark of the community. We therefore detail a different way of doing genetics to more gene-centred accounts. By doing so, we reveal the presence of practices, concepts and communities that would otherwise be hidden. (shrink)

In this paper, rather than focusing on genes as an organising concept around which historical considerations of theory and practice in genetics are elucidated, we place genetic markers at the heart of our analysis. This reflects their central role in the subject of our account, livestock genetics concerning the domesticated pig, Sus scrofa. We define a genetic marker as a element existing in different forms in the genome, that can be identified and mapped using a variety of quantitative, classical and (...) molecular genetic techniques. The conjugation of pig genome researchers around the common object of the marker from the early-1990s allowed the distinctive theories and approaches of quantitative and molecular genetics concerning the size and distribution of gene effects to align in projects to populate genome maps. Critical to this was the nature of markers as ontologically inert, internally heterogeneous and relational. Though genes as an organising and categorising principle remained important, the particular concatenation of limitations, opportunities, and intended research goals of the pig genetics community, meant that a progressively stronger focus on the identification and mapping of markers rather than genes per se became a hallmark of the community. We therefore detail a different way of doing genetics to more gene-centred accounts. By doing so, we reveal the presence of practices, concepts and communities that would otherwise be hidden. (shrink)

This article answers several calls—coming as well from corporate governance practitioners as from corporate governance researchers—concerning the possibility of complying simultaneously with requirements of innovation and ethics. Revealing the long-term orientation as the variable which permits us to link the principal goal of organization, being “survival,” with innovation and ethic, the article devises a framework for incorporating ethics into a company’s processes and strategies for innovation. With the principal goal of organizations being “survival” in the long-term, it is assumed that (...) innovation is necessary in order to realize a going concern. Firms that do not innovate and adapt to rapidly changing business environments are less likely to be sustainable. Thus, it is in a business’ best interests to adopt an innovation process for long-term success. We posit that there are two simultaneous sources of innovation and change that are unavoidable and embedded in the corporate landscape. First, we argue for genetically embedded, Darwinian explanations for adaptations that enable an entity’s survival. This view is combined with more conventional, social science explanations for change. Our new, comprehensive model of the governance of innovation processes hinges on the one hand on an organization’s long-term orientation, which we argue, is not possible without a consideration of an ethical dimension. On the other hand, the model employs, for the first time, the concept of duality, in order to make the positive coexistence of innovation and ethic analytically visible. Guided by this concept the roots of the ethic within innovation are traced from both natural science forces for change, and cultural pressures operating on members of an organization. We present our Integrated Causal Model of Innovation and propose theoretical relationships that will generate numerous avenues for future research in the field, and help managers to reorient their governance strategies. (shrink)

The genetic code has been regarded as arbitrary in the sense that the codon-amino acid assignments could be different than they actually are. This general idea has been spelled out differently by previous, often rather implicit accounts of arbitrariness. They have drawn on the frozen accident theory, on evolutionary contingency, on alternative causal pathways, and on the absence of direct stereochemical interactions between codons and amino acids. It has also been suggested that the arbitrariness of the genetic code justifies attributing (...) semantic information to macromolecules, notably to DNA. I argue that these accounts of arbitrariness are unsatisfactory. I propose that the code is arbitrary in the sense of Jacques Monod's concept of chemical arbitrariness: the genetic code is arbitrary in that any codon requires certain chemical and structural properties to specify a particular amino acid, but these properties are not required in virtue of a principle of chemistry. This notion of arbitrariness is compatible with several recent hypotheses about code evolution. I maintain that the code's chemical arbitrariness is neither sufficient nor necessary for attributing semantic information to nucleic acids. (shrink)

This book is a philosophically sophisticated and scientifically well-informed discussion of the moral and social issues raised by genetically engineering animals, a powerful technology which has major implications for society. Unlike other books on this emotionally charged subject, the author attempts to inform, not inflame, the reader about the real problems society must address in order to manage this technology. Bernard Rollin is both a professor of philosophy, and physiology and biophysics, and writes from a uniquely well-informed perspective on this (...) topic. The style is non-technical and anecdotal and will ensure that the book can be used on a wide range of courses on bioethics, biotechnology, veterinary medicine and public policy. The book could also appeal to a general, non-academic reader with a serious interest in genetic engineering. (shrink)