‘Like editing bits of ourselves’: geneticisation and human fate

Abstract

Disquiet relating to the potential for knowing one's ‘fate’ emerged strongly in sixteen focus groups relating to genetic testing held in Aotearoa/New Zealand. This paper draws on the concept of ‘life itself’, rephrased here as ‘capitalised genomics’, to understand this reaction. A tension relating to the discourse of geneticisation, in which ‘the gene’ is held to carry essential identity, links to ancestors and people, and yet also to create fixed and innate characteristics, is described. Insofar as genes are also understood to be coded and manipulable information, participants were concerned that the instrumentalisation inherent to Western technoscience may become applicable to human nature. This paper argues that participants' focus on issues associated with potentially ‘knowing one's fate’ thus speaks to an understanding of the underlying dynamics of human genomics within a capitalistic context.     

The limits of post-national citizenship: European Muslims,human rights and the hijab

Innovative approaches to citizenship emerged in the 1990s. Post-national theory suggested that European minorities no longer needed national citizenship because supra-national political structures such as the European Court of Human Rights (ECtHR) offered them protections. Denationalized citizenship held that universal human rights were now available at the national level too as the Council of Europe's member countries had to incorporate human rights principles within their own jurisdictions. New forms of claims-making among European Muslims were cited as evidence of this trend as religious claims, especially relating to the hijab, began to be made through human rights litigation. This paper demonstrates the limits of post-nationalism through a discussion of the outcomes of such claims. While European Muslims are indeed mobilizing around human rights, there is no evidence – at the level of litigation – that this has helped them to win recognition of their religious or cultural rights. This paper explores the reasons for this.     

"Showing roughness in a beautiful way": talk about love, coercion, and rape in South African youth sexual culture

Sexual violence within as well as outside sexual relationships has far-reaching public health and human rights implications and is a continuing focus of popular debate, media coverage, and research in postapartheid South Africa. Partly because it has been shown to affect individual vulnerability to HIV/AIDS, sexual violence has in recent years become framed as a global public health issue. International research efforts to document the scale of this personally and politically sensitive problem can encounter conceptual, definitional, and methodological difficulties that anthropology is well placed to assist in alleviating. This article offers an ethnographic exploration of the spectrum of practices relating to sexual coercion and rape among young people in a township in the former Transkei region of South Africa. Contextualizing meanings of sexual coercion within local youth sexual culture, the article considers two emic categories associated with sex that is "forced": ukulala ngekani: "to sleep with by force" or ukunyanzela: "to force," both usually used to describe episodes occurring within sexual partnerships; and ukudlwengula, used to describe rape by a nonpartner or stranger. The article discusses the semantic content of and differences between these two key categories, demonstrating that encounters described as "forced sex" encompass not only various forms of sexual coercion but also, particularly in the narratives of young men, instances of more consensual sex. Of importance, in turn, in defining an act as "rape" rather than as "forced sex" are the character of the relationship between the two parties and interlinked ideas relating to exchange and sexual entitlement, love, and the importance of "intention," violation, and "deserving" victimhood.     

Telomeres and double-strand breaks - all's well that "ends" well. ..

Bailey, S. Telomeres and Double-Strand Breaks - All's Well that "Ends" Well. ... Radiat. Res. 169, 1-7 (2008). Sometimes one's life (including one's science) makes a lot more sense when viewed from the perspective of time, reflected back on over a number of years. That has indeed been the case for me. Strangely enough, the story begins with chromosomes and "ends" with telomeres, both at Colorado State University. And, just as with chromosomes, a lot happened in between. Telomeres were first identified based on their function-they protected the physical ends of chromosomes from interaction with broken DNA ends created by ionizing radiation. While I was at Los Alamos National Laboratory, the sequence of human telomeres was discovered, making probes available that allowed us to re-examine and provide direct support of these early observations; thus began my fascination with telomeres. Chromosome orientation in situ hybridization (CO-FISH) also came onto the scene while I was in Los Alamos. This strand-specific modification of standard FISH, especially when combined with telomeric sequence probes, has proven to be a powerful approach that provides information not available by any other means. Applications have included pericentric inversion detection, distinction between leading- and lagging-strand telomeres, and identification of telomere-double-strand break (DSB) fusions. We also provided the first direct evidence that DSB repair proteins (DNA-PK in particular) are required for mammalian telomeric end capping, and we have been characterizing telomere dysfunction in NHEJ and HR repair-deficient backgrounds ever since. Cells must correctly distinguish between DNA ends represented by telomeres and DNA ends produced by DSBs if all is to end well. Just as these studies have provided new insight into the complex, often surprising, interactions at DNA ends, they also provoke new questions. Whereas it is now well established that DSB repair proteins associate with telomeres, most recently we've been asking whether the reverse scenario holds: Do telomere proteins interact with DSBs? We find that DSBs induced by ionizing radiations are not sufficient to recruit the essential telomere protein TRF2 as an early damage response, so perhaps this interplay is a one-way street. The rest of the story waits to unfold.     

Moral considerations in body donation for scientific research: a unique look at the University of Tennessee's anthropological research facility

This paper discusses keys to the moral procurement, treatment and disposition of remains used for scientific research, specifically those donated to the University of Tennessee's Anthropological Research Facility (ARF). The ARF is an outdoor laboratory dedicated to better understanding the fate of human remains in forensic contexts, and focuses its research on decomposition, time since death estimates, body location and recovery techniques, and skeletal analysis. Historically, many donations were unclaimed bodies received from medical examiners (although it will be shown that this trend is changing), and it has been argued that the use of the unclaimed bodies for medical or scientific purposes is a violation of autonomy since no consent was given by the individual. It is argued here, however, that the domain of autonomous choice extends to one's own corpse only insofar as expressed wishes are made known prior to one's death, and that in the absence of expressed intent toward final disposition, it is acceptable for institutions to receive donations from medical examiners or family members. This paper also discusses other philosophical issues related to donation, consent and autonomy, and the forensic benefits of research conducted at the Anthropological Research Facility.     

Children as means and ends in large-scale medical research

This paper considers the often-expressed fear that medical research may use children merely as means, and not respect them as ends in themselves - especially insofar as they are deemed less able to consent than adults. The main focus is on large-scale genetic, socio-medical and epidemiological research. The theoretical starting point of the paper is that to be treated as an end in oneself is to be regarded as - and to act as - a participant in cooperative endeavours. This participatory status is certainly connected with individual authority to consent and dissent; and there is no doubt that consent plays an important role when adults participate in many research projects. However, insofar as consent is located within structures of human cooperation, the authority to consent is not a straightforward privilege. Rather, consent is bound up with responsibility for one's choices and commitment to shared terms of cooperation. Given this understanding, it is argued that consent should not be our principal concern when we involve children in research. This is not because of children's (possible) incompetence to consent as such, but rather because children are still learning how to respect and assess the cooperative terms involved in our institutional lives. Instead, our leading concern should be with the terms regulating their involvement in research. Given suitable safeguards, research is one way in which children may learn what it is to bear responsibilities and to act as an end in oneself - that is, to cooperate with others on reasonable terms and for worthy ends.     

Architecture as animate landscape: circular shrines in the ancient Maya lowlands

In this study, I develop a theory of landscape archaeology that incorporates the concept of “animism” as a cognitive approach. Current trends in anthropology are placing greater emphasis on indigenous perspectives, and in recent decades animism has seen a resurgence in anthropological theory. As a means of relating in (not to) one's world, animism is a mode of thought that has direct bearing on landscape archaeology. Yet, Americanist archaeologists have been slow to incorporate this concept as a component of landscape theory. I consider animism and Nurit Bird-David's (1999) theory of “relatedness” and how such perspectives might be expressed archaeologically in Mesoamerica. I examine the distribution of marine shells and cave formations that appear incorporated as architectural elements on ancient Maya circular shrine architecture. More than just “symbols” of sacred geography, I suggest these materials represent living entities that animate shrines through their ongoing relationships with human and other-than-human agents in the world.     

Zooarchaeology and taphonomy of Aurora Stratum (Gran Dolina, Sierra de Atapuerca, Spain).

In 1994 and 1995, a 7 m(2)area was excavated at Level 6 of the Gran Dolina site, Atapuerca. A 25 cm deep sub-level, named Aurora Stratum, contained a large number of human fossils, stone tools and faunal remains. The appearance of human remains as part of a butchered faunal assemblage in association with stone tools raises an interesting question relating to human behaviour. The main aim of this paper, therefore, is to evaluate the nature and function of the human occupation at this cave site with a view to understanding the purposes of cannibalism. The zooarchaeological and taphonomic analyses of the macrovertebrate remains focus on species composition, weight and anatomic groups, as well as breakage intensity, type of fragmentation, and surface damage (particularly tool-induced damage) in order to evaluate the faunal source, butchering techniques and economic strategies of the human groups involved. We also studied the distribution and fossil refitting at the site to establish depositional and postdepositional disturbance. Diagenetic breakage due to sediment compression plays an important role in the assemblage, but the most extensive modifications are those produced by human activity for nutritional purposes.     

Gathering "tea" - from necessity to connectedness with nature. Local knowledge about wild plant gathering in the Biosphere Reserve Grosses Walsertal (Austria)

ABSTRACT: BACKGROUND: Wild plant gathering is an essential element in livelihood strategies all over the world. However due to changing circumstances in Europe, the reason for gathering has altered from one of necessity in the past to a pleasurable activity today. Wild plant gathering has therefore also received renewed attention as a form of intangible cultural heritage expressing local preferences, habits and man's relationship with nature. In the Biosphere Reserve Grosses Walsertal (Austria), local people's knowledge of the gathering of wild plants and their perception of their own gathering activities are being documented. The focus of this paper is on the uses of herbal teas and the informal guidelines for gathering plants that have been issued by the Bergtee (mountain tea) association. METHODS: Thirty-six free-list interviews were conducted with subsequent semi-structured interviews and three focus group meetings held with members of the Bergtee association. Participatory observation (gathering and processing plants, mixing and marketing tea) also allowed for greater understanding of what had been reported. RESULTS: In total, 140 different gathered plant species were listed by respondents. Herbal tea is the most frequently mentioned use. The Bergtee association, founded by a young man and two middle-aged women in the valley, is a good example of the link between biological and cultural diversity, with the aim of sharing the biosphere reserve's natural treasures as well as local plant-related knowledge in the form of herbal tea products. The association's informal guidelines for gathering reflect people's attitude to nature: monetary income does not play a major role in gathering plants; instead people's appreciation of the value of the nature around them is to the fore. CONCLUSIONS: Gathering wild plants can be seen as an expression of people's regional identity. The conscious appreciation of nature and related local knowledge is crucial for the sustainable conservation and use of the Biosphere Reserve's resources.     

Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases

The "protective protein" is a glycoprotein that associates with lysosomal beta-galactosidase and neuraminidase and is deficient in the autosomal recessive disorder galactosialidosis. We have isolated the cDNA encoding human "protective protein". The clone recognizes a 2 kb mRNA in normal cells that is not evident in fibroblasts of an early infantile galactosialidosis patient. The cDNA directs the synthesis of a 452 amino acid precursor molecule that is processed in vivo to yield mature "protective protein," a heterodimer of 32 kd and 20 kd polypeptides held together by disulfide bridges. This mature form is also biologically functional since it restores beta-galactosidase and neuraminidase activities in galactosialidosis cells. The predicted amino acid sequence of the "protective protein" bears homology to yeast carboxypeptidase Y and the KEX1 gene product. This suggests a protease activity for the "protective protein."     

The triad of success in personalised medicine: pharmacogenomics, biotechnology and regulatory issues from a Central European perspective

The population of the world has recently passed the 7 billion milestone and as the cost of human genome sequencing is rapidly declining, sequence data of billions of people should be accessible much sooner than anyone would have predicted 10years ago. This will form the basis of personalised medicine. However it is still not clear, even in principle, whether these data, combined with data of the expression of one's genome in various cells and tissues relevant to different diseases, could be used effectively in clinical medicine and healthcare, or in predicting responses to different therapies. Therefore this is an important issue which needs to be addressed before more resources are wasted on less than informative studies and surveys simply because technologies exist. As a typical example, we have selected and summarise here key studies from the biomedical literature that focus on gene expression profiling of the response to biologic therapies in peripheral blood and biopsy samples in autoimmune diseases such as rheumatoid arthritis, spondylarthropathy, inflammatory bowel diseases and psoriasis. We also present the state of the biotechnology market from a European perspective, discuss how spin-offs leverage the power of genomic technologies and describe how they might contribute to personalised medicine. As ethical, legal and social issues are essential in the area of genomics, we analysed these aspects and present here the European situation with a special focus on Hungary. We propose that the synergy of these three issues: pharmacogenomics, biotechnology and regulatory issues should be considered a triad necessary to succeed in personalised medicine.     

The role of zinc in caspase activation and apoptotic cell death

In addition to its diverse role in many physiological systems, zinc (Zn) has now been shown to be an important regulator of apoptosis. The purpose of this review is to integrate previously published knowledge on Zn and apoptosis with current attempts to elucidate the mechanisms of action of this biometal. This paper begins with an introduction to apoptosis and then briefly reviews the evidence relating Zn to apoptosis. The major focus of this review is the mechanistic actions of Zn and its candidate intracellular targets. In particular, we examine the cytoprotective functions of Zn which suppress major pathways leading to apoptosis, as well as the more direct influence of Zn on the apoptotic regulators, especially the caspase family of enzymes. These two mechanisms are closely related since a decline in intracellular Zn below a critical threshold level may not only trigger pathways leading to caspase activation but may also facilitate the process by which the caspases are activated. Studies by our laboratory in airway epithelial cells show that Zn is co-localized with the precursor form of caspase-3, mitochondria and microtubules, suggesting this Zn is critically placed to control apoptosis. Further understanding the different pools of Zn and how they interact with apoptotic pathways should have importance in human disease.     

Is the body the self? Women and body image

This paper discusses how women's body image or experience of the body influences their identity and self-image. What are the implications of this tendency to equate the body and the self? For many women, being a dieter represents not only something that they do, but also an important aspect of how they see themselves. We propose that choosing to become a chronic dieter is a means of regulating not just one's feelings, but also one's identity and self-image when those central aspects of the self feel threatened. Weight-loss dieting is often unsuccessful, however, and repeated dieting attempts may increase weight as often as they reduce it, so using body shape to determine self-worth or identity is a maladaptive strategy for most women.     

The "Gent" consensus on perforator flap terminology: preliminary definitions

Due to its increasing popularity, more and more articles on the use of perforator flaps have been reported in the literature during the past few years. Because the area of perforator flaps is new and rapidly evolving, there are no definitions and standard rules on terminology and nomenclature, which creates confusion when surgeons try to communicate and compare surgical techniques. This article attempts to represent the opinion of a group of pioneers in the field of perforator flap surgery. This consensus was reached after a terminology consensus meeting held during the Fifth International Course on Perforator Flaps in Gent, Belgium, on September 29, 2001. It stipulates not only the definitions of perforator vessels and perforator flaps but also the correct nomenclature for different perforator flaps. The authors believe that this consensus is a foundation that will stimulate further discussion and encourage further refinements in the future.     

Clinical disease and pathogenesis in malaria

This is the report of a meeting held in Ahungalla, Sri Lanka, 16-19 January 1994, under the sponsorship of the Rockefeller Foundation, Health Sciences Division. The meeting was initiated jointly by the Rockefeller Foundation and the TDR Special Programme of the World Health Organization in order to bring together scientists with a wide spectrum of experience relating to malarial disease and pathogenesis. The objective was to generate interdisciplinary discussion ranging from the clinical pictures of malarial infections and their impact in different parts of the world, to current investigations on mechanisms of pathogenesis and clinical immunity and the genetic determinants in human and parasite populations affecting the nature of the disease.     

Neurochemistry Underlying Relapse to Opiate Seeking Behaviour

Relapse is a major clinical problem and remains a major challenge in the treatment of addictions. A goal of current research is to gain a greater understanding of the neurochemistry underlying relapse to opiate use. Factors which trigger relapse in humans such as stress, exposure to opiates and/or drug-associated cues, can also trigger opiate-seeking in animals. This review will overview preclinical studies relating to the neurochemistry of opiate-seeking with a focus on studies published from 2005 to present.     

"4D Biology for health and disease" workshop report

The "4D Biology Workshop for Health and Disease", held on 16-17th of March 2010 in Brussels, aimed at finding the best organising principles for large-scale proteomics, interactomics and structural genomics/biology initiatives, and setting the vision for future high-throughput research and large-scale data gathering in biological and medical science. Major conclusions of the workshop include the following. (i) Development of new technologies and approaches to data analysis is crucial. Biophysical methods should be developed that span a broad range of time/spatial resolution and characterise structures and kinetics of interactions. Mathematics, physics, computational and engineering tools need to be used more in biology and new tools need to be developed. (ii) Database efforts need to focus on improved definitions of ontologies and standards so that system-scale data and associated metadata can be understood and shared efficiently. (iii) Research infrastructures should play a key role in fostering multidisciplinary research, maximising knowledge exchange between disciplines and facilitating access to diverse technologies. (iv) Understanding disease on a molecular level is crucial. System approaches may represent a new paradigm in the search for biomarkers and new targets in human disease. (v) Appropriate education and training should be provided to help efficient exchange of knowledge between theoreticians, experimental biologists and clinicians. These conclusions provide a strong basis for creating major possibilities in advancing research and clinical applications towards personalised medicine.     

Culture as a threat to humanity and the biosphere: A biohistorical perspective

This paper begins with a brief discussion of the biohistorical approach to the study of human situations. It then considers some important principles relating to the health and behaviour of the human organism, as a biological being, in biologically novel habitats (eg cities) created by human culture. In particular, it examines the notion, in biohistorical perspective, that human culture is at present dangerously out of control; and it concludes with some discussion on prerequisites for a successful cultural adaptive response to the threats to humanity and to the biosphere inherent in the current situation.