Genes

Congenital deafness is one of the most common birth defects reported. Approximately 70% of congenital deafness is non-syndromic, and approximately 80% of non-syndromic hearing loss results from a genetic cause. Middleton et al.’s1998 study highlighted the negative attitudes of culturally Deaf individuals towards genetic testing for genes known to cause hearing loss. While studies concerning genetic testing for deafness genes reference Middleton’s study, to our knowledge a re-evaluation of the attitudes of Deaf individuals towards genetic testing has not been conducted (...) recently. The purpose of this study is to re-establish attitudes of Deaf individuals towards genetic testing of genes known to cause hearing loss. A computer-based questionnaire was distributed to members of the Deaf community. Responses of participants were recorded and analyzed. The primary investigator then attended Deaf community events and the 2015 Alabama Association of the Deaf Conference, and recruited individuals interested in participating in the study. The surveys were distributed to these individuals and their anonymous responses were analyzed. Our results show there are more positive attitudes within the Deaf community towards genetic counseling, genetic testing, and prenatal testing of genes known to cause hearing loss than were previously documented, although negative attitudes are still present. Additionally, our study shows there is a desire among members of the Deaf community to learn more about and potentially receive these services, despite the fact they are rarely offered by healthcare providers. (shrink)

One of the most prominent justifications for the use of germline gene editing (GGE) is that it would allow parents to have a “genetically related child” while preventing the transmission of genetic disorders. However, we argue that since future uses of GGE may involve large-scale genetic modifications, they may affect the genetic relatedness between parents and offspring in a meaningful way: Due to certain genetic modifications, children may inherit much less than 50% of their DNA from each parent. We show (...) that the reduction in genetic relatedness between parents and offspring has three important social and legal implications. First, the desire for a genetically related child may end up not being the strong justification it is currently thought to be for the use of GGE. Second, prospective parents may be reluctant to use GGE because of a potential loss of genetic relatedness. Third, in some jurisdictions, parents who would not pass on “enough” DNA to their child may not be recognized as the child's legal parents. We further argue that the reduction in genetic relatedness challenges current conceptions of genetic parenthood that rely on the quantity of DNA shared with the child or on whether the child was directly derived from the parent's genes. We suggest that genetic parenthood should instead be determined based on the nature of the genetic modifications and whether the child's numerical identity has been preserved after the editing process. (shrink)

The 1968 Olympic Games in Mexico included innovative practices and technological knowledge of human biology. The first time that cytogenetic techniques had been applied to athletes was in the 1966 European Athletics Championship in Budapest and used on Olympic athletes for the first time in Mexico in 1968. The Genetics and Human Biology Program was created for this purpose in 1966 in close collaboration with the Local Organizing Committee, by Mexican geneticists Alfonso León de Garay and Rodolfo Félix Estrada who (...) led the project. The main objective was to study the genetic and anthropological components which determine an Olympic athlete’s abilities. This investigation studied 1,265 game participants and included family studies, cytological analyses, research on single genes, and the study of sex determination. In terms of influence beyond Mexico, this Program was significant as a site of transnational collaboration. It mobilized cognitive and financial resources, scientific practices, and material culture to set up a clinical laboratory in the Olympic Village. The Program also hosted three international seminars in Mexico City, two before the games, to calibrate clinical trials and anthropological tests. One in 1969 to analyze the results and proceed to their publication in 1974. This manuscript will focus on the PGBH to show how its work fits in the larger tapestry of post-1945 human biological studies. Also, to explore how the Olympic athlete populations studied can be considered laboratories of knowledge production or sites of cognition conceived as specific entities for scientific inquiry, standardization of medical practices, and the production or application of medicines. Finally, through the narrative of the different trajectories and collaborations of the leaders of the PGBH, this manuscript will show how contact between their scientific practices brought cytogenetics and sports together. (shrink)

Cancers often express hundreds of genes otherwise specific to germ cells, the germline/cancer (GC) genes. Here, we present and discuss the hypothesis that activation of a “germline program” promotes cancer cell malignancy. We do so by proposing four hallmark processes of the germline: meiosis, epigenetic plasticity, migration, and metabolic plasticity. Together, these hallmarks enable replicative immortality of germ cells as well as cancer cells. Especially meiotic genes are frequently expressed in cancer, implying that genes unique to meiosis may play a (...) role in oncogenesis. Because GC genes are not expressed in healthy somatic tissues, they form an appealing source of specific treatment targets with limited side effects besides infertility. Although it is still unclear why germ cell specific genes are so abundantly expressed in cancer, from our hypothesis it follows that the germline's reproductive program is intrinsic to cancer development. (shrink)

Transhumanism : in a nutshell -- On a silicon-based transhumanism -- On a carbon-based transhumanism -- A fictive ethics -- The end of the beginning.

This book uses insights from disability studies to understand in a deeper way the ethical implications that genetic technologies pose for Christian thought. Theologians have been debating genetic engineering for decades, but what has been missing from many theological debates is a deep concern for persons with genetic disabilities. In this ambitious and stimulating book, Devan Stahl argues that engagement with metaphysics and a theology of nature is crucial for Christians to evaluate both genetic science and the moral use of (...) genetic technologies, such as human genetic engineering, gene therapy, genetic screenings, preimplantation genetic diagnosis, and gene editing. Using theological notions of creation ex nihilo and natural law alongside insights from disability studies, the book seeks to recast the debate concerning genetic well-being. Following the work of Stanley Hauerwas, Stahl proposes the church as the locus for reimagining disability in a way that will significantly influence the debates concerning genetic therapies. Stahl's project in "genethics" proceeds with an acute awareness of her own liberal Protestant tradition's early embrace of the eugenics movement in the name of scientific and medical advancement, and it constructively engages the Catholic tradition's metaphysical approach to questions in bioethics to surpass limitations to Protestant thinking on natural law. Christianity has all too frequently been complicit in excluding, degrading, and marginalizing people with disabilities, but the new Christian metaphysics developed here by way of disability perspectives provides normative, theological guidance on the use of genetic technologies today. As Stahl shows in her study, only by heeding the voices of people with disabilities can Christians remain faithful to the call to find Christ in "the least of these" and from there draw close to God. This book will be of interest to scholars in Christian ethics, bioethics, moral theology, and practical theology. (shrink)

The process of gene expression is affected by many extracellular stimulus signals, and the stochasticity of these signals reshapes gene expression. To adapt the fluctuation of the extracellular environment, genes have many strategies for augmenting their survival probability, frequency modulation, and amplitude modulation. However, it is unclear how genes utilize the stochasticity of signals to regulate gene expression and which strategy will be chosen to maximize cellular function. Here, we analyze a simple mechanistic model to clarify the effect of extracellular (...) random input on gene expression and burst kinetics at different timescales. We can see that in different contexts, extracellular noise has different effects on downstream gene expression, effects which include the following: extracellular noise will make the ON-OFF-state dwell time drift, which will influence the burst frequency and burst size of downstream gene expression under different modulation paradigms; comparing the burst parameter or gene expression products under different modulation paradigms, we can see that the amplitude signal is more sensitive in the case of extracellular noise input, whereas the signal in noiseless conditions is more sensitive when the random input is a fast process, which indicates that the amplitude signal is a superior and common signal in gene expression; and extracellular random input will change the bimodality for gene expression, but its influence is different for gene expression products under different modulation paradigms. These qualitative results reveal that extracellular random input can prompt the gene to achieve its function quickly under different modulation paradigms. (shrink)

I argue that scientists should adopt a sexual orientation view that includes ‘internal’ sexual orientation markers such as desire, fantasies, and attraction, plus self-identification, and that these two markers should line up. By ‘internal’ markers, I mean inner states or processes of the agent. This can be contrasted with ‘external markers’, by which I mean, behaviours of the agent. I begin by critically reviewing four genetic studies of sexual orientation that are representative of the literature. I look at how each (...) of these studies deploy the concept of ‘sexual orientation’, and show a) that they are each using different notions, and b) that none of the notions are satisfactory. I argue that these accounts have a very limited amount of predictive and explanatory power. Following this, I outline what an account of sexual orientation that has more predictive and explanatory power might look like. I argue that this account will be one that includes internal markers and self-identification. (shrink)

Gene-editing technologies, such as CRISPR/Cas9, are internationally ethically fraught. In the United States, policy surrounding gene-editing has yet to be implemented, while the science continues to speed ahead. However, it is not enough that policy be implemented: in order for policy to establish limits for the technology such that benefits are possible while threats are kept at bay, such policy must be ethical. In turn, the ethics of gene-editing is a culturally determined field of inquiry. This piece presents a proposal (...) for a study whose goal is to arrive at ethical policy recommendations for policymakers. To achieve this goal, this study proposes, what needs to be done is, first, to understand the full history and foundation of gene-editing by conducting a thorough legal, bioethical, and policy review for precedent assisted reproductive technologies and genetic reproductive technologies. Following this effort, an empirical study must be conducted involving careful surveys of key stakeholder groups on their knowledge and opinions of gene-editing. Such stakeholder groups must include bioethicists, medical geneticists, and lay persons, including those in the disability community. (shrink)

… the decision to genome edit will almost certainly be identity affecting, as a couple (or individual) will usually make it before they have created any embryos and the process itself will, at the...

I argue that our general disposition to make moral judgments and our core moral intuitions are likely the product of social selection—a kind of gene–culture coevolution driven by the enforcement of collectively agreed-upon rules. Social selection could potentially track mind-independent moral truth by a process that I term realist social selection: our ancestors could have acquired moral knowledge via reason and enforced rules based on that knowledge, thereby creating selection pressures that drove the evolution of our moral psychology. Given anthropological (...) evidence that early humans designed rules with the conscious aim of preserving individual autonomy and advancing their collective interests, the theory of realist social selection appears to be attractive for moral realists. The goal of evolutionary debunking arguments should be to show not that our moral beliefs are the product of natural selection, but that realist social selection did not occur. (shrink)

Gene therapy and gene editing are revolutionising the treatment of genetic diseases, most notably haematological disorders. This paper evaluates the use of both techniques in hereditary blood disorders. Many studies have been conducted in this field, especially with gene therapy, with very promising results in diseases such as haemophilia, certain haemoglobinopathies and Fanconi anaemia. The application of these techniques in clinical practice and the foreseeable development of these approaches in the coming years suggest that it might be useful to evaluate (...) the results achieved thus far. It is also essential to reflect on the possible bioethical concerns raised by the use of both techniques, especially in terms of safety issues for patients, potential side effects, treatment duration, accessibility and cost of treatment, and the heritability of genetic changes produced if germline cells are used. (shrink)

Gene therapies to treat sickle cell disease are in development and are expected to have high costs. The large eligible population size — by far, the largest for a gene therapy — poses daunting budget challenges and threatens to exacerbate health disparities for Black patients, who make up the vast majority of American sickle cell patients.

CRISPR is currently viewed as the central tool for future gene therapy. Yet, many prominent scientists and bioethicists have expressed ethical concerns around CRISPR gene therapy. This paper provides a critical review of concerns about CRISPR gene therapy as expressed in the mainstream academic literature, paired with replies also generally found in that literature. The expressed concerns can be categorised into three types depending on whether they stress risk/benefit ratio, autonomy and informed consent, or concerns related to various aspects of (...) justice. In the reviewed literature, we found no intrinsic objections to CRISPR gene therapy, even though many such objections were present in discussions of gene editing in the 1990s. The paper then proposes a brief outline for a practically applicable moral framework for public decision-making about CRISPR gene therapy and suggests how such a framework might be supported. We also suggest that this framework should govern public engagement about CRISPR gene therapy in order to reduce the risk that we make decisions about CRISPR gene therapy based on misperceptions, inflated views of risk, or unreasonable moral or religious views. (shrink)

David Haig’s From Darwin to Derrida scrutinizes a wide range of historical and contemporary issues embedded in the theory and practice of genetics—from genes to multilevel selection, from prokaryot...

Arising from a research project from the Faraday Institute for Science and Religion in Cambridge, UK, this primer on gene editing is written by a postdoctoral researcher in the Faculty of Divinity...

This book explores two disparate sets of debates in the history and philosophy of the life sciences: the history of subjectivity in shaping objective science and the history of dominance of reductionism in molecular biology. It questions the dominant conception of the scientist-subject as a neo-Kantian ideal self - that is, the scientist as a unified and wilful, self-determined, self-regulated, active and autonomous, rational subject wilfully driven by social and scientific ethos - in favour of a narrative that shows how (...) the microcosm of reductionism is sustained, adopted, questioned, or challenged in the creative struggles of the scientist-subject. The author covers a century-long history of the concept of the gene as a series of "pioneering moments" through an engagement with life-writings of eminent scientists to show how their ways of being and belonging relate with the making of the science. The scientist-self is theorized as fundamentally a feeling, experiencing, and suffering subject split between the conscious and unconscious and constitutive of personality aspects that are emotional/psychological, "situated", metaphysical, intersubjective, and existential at the same time. An engaging interdisciplinary interpretation of the dominance of reductionism in genetic science, this book will be of major interest to scholars and researchers of science, history, and philosophy alike. (shrink)

Attitudes towards science, medicine and the body are all profoundly shaped by people's worldviews. When discussing issues of bioethics, religion often plays a major role. In this volume, the role of genetic manipulation and neurotechnology in shaping human identity is examined from multiple religious perspectives. This can help us to understand how religion might affect the impact of the initiatives such as the UNESCO Declaration in Bioethics and Human Rights. The book features bioethics experts from six major religions: Buddhism, Confucianism, (...) Christianity, Islam, Hinduism, and Judaism. It includes a number of distinct religious and cultural views on the anthropological, ethical and social challenges of emerging technologies in the light of human rights and in the context of global bioethics. The contributors work together to explore issues such as: cultural attitudes to gene editing; neuroactive drugs; the interaction between genes and behaviours; the relationship between the soul, the mind and DNA; and how can clinical applications of these technologies benefit the developing world. This is a significant collection, demonstrating how religion and modern technologies relate to one another. It will, therefore, be of great interest to academics working in bioethics, religion and the body, interreligious dialogue, and religion and science, technology and neuroscience. (shrink)