Anticipating the 1,000 dollar genome

A new generation of DNA-sequencing platforms will become commercially available over the next few years. These instruments will enable re-sequencing of human genomes at a previously unimagined throughput and low cost. Here, I examine why the 1,000 dollar human genome is an important goal for research and clinical diagnostics, and what will be required to achieve it.     

Human-animal cytoplasmic hybrid embryos, mitochondria, and an energetic debate

Scientists are seeking permission to generate human embryonic stem cells to study disease by introducing human genetic material into an animal oocyte. This has raised ethical questions that centre on whether the entities being generated are actually human. The answer to these questions will determine how this area of research will be regulated and whether such work will be legal. The function of the extra-nuclear mitochondrial genome lies at the heart of these issues and forms the focus of this commentary.     

Assessing ecosystem health

Evaluating ecosystem health in relation to the ecological, economic and human health spheres requires integrating human values with biophysical processes, an integration that has been explicitly avoided by conventional science. The field is advancing with the articulation of the linkages between human activity, regional and global environmental change, reduction in ecological services and the consequences for human health, economic opportunity and human communities. Increasing our understanding of these interactions will involve more active collaboration between the ecological, social and health sciences. In this, ecologists will have substantive and catalytic roles.     

Framework for Human Health Risk Assessment

The U.S. Environmental Protection Agency has recognized the need to develop a framework for human health risk assessment that puts a perspective on the approaches in practice throughout the Agency. In response, the Agency's Risk Assessment Forum has begun the long-term process of developing a framework for human health risk assessment. The framework will be a communication piece that will lay out the scientific basis, principles, and policy choices underlying past and current risk assessment approaches and will provide recommendations for integrating/harmonizing risk assessment methodologies for all human health endpoints.     

Projected climate‐driven faunal movement routes

Historically, many species moved great distances as climates changed. However, modern movements will be limited by the patterns of human‐dominated landscapes. Here, we use a combination of projected climate‐driven shifts in the distributions of 2903 vertebrate species, estimated current human impacts on the landscape, and movement models, to determine through which areas in the western hemisphere species will likely need to move to track suitable climates. Our results reveal areas with projected high densities of climate‐driven movements – including, the Amazon Basin, the southeastern United States and southeastern Brazil. Some of these regions, such as southern Bolivia and northern Paraguay, contain relatively intact landscapes, whereas others such as the southeastern United States and Brazil are heavily impacted by human activities. Thus, these results highlight both critical areas for protecting lands that will foster movement, and barriers where human land‐use activities will likely impede climate‐driven shifts in species distributions.     

The human genome project--some implications of extensive "reverse genetic" medicine

Impressive progress has been made during the past several decades in understanding the pathogenesis of human genetic disease. The tools of molecular biology have allowed the isolation of many disease-related genes by forward and a few by reverse genetics, and the imminent completion of a complete human genetic linkage map will accelerate the genetic characterization of many more genetic diseases. The major impacts of the molecular characterization of human genetic diseases will be 1. To increase markedly the number of human diseases that we recognize to have major genetic components. We already understand that genetic diseases are not rare medical curiosities with negligible societal impact, but rather constitute a wide spectrum of both rare and extremely common diseases responsible for an immense amount of suffering in all human societies. The characterization of the human genome will lead to the identification of genetic factors in many more human diseases, even those that now seem too multifactorial or polygenic for ready understanding. 2. To allow the development of powerful new approaches to diagnosis, detection, screening and even therapy of these disorders aimed directly at the mutant genes rather than at the gene products. This should eventually allow much more accurate and specific management of human genetic disease and the genetic factors in many human maladies. The preparation of a fine-structure physical map of the entire human genome together with an overlapping contiguous set of clones spanning entire chromosomes or large portions of chromosomes is rapidly becoming feasible, and the information that will flow from this effort promises eventually to affect the management of many important genetic diseases.(ABSTRACT TRUNCATED AT 250 WORDS)     

On cloning human beings

The purpose of this paper is to show that arguments for and against cloning fail to make their case because of one or both of the following reasons: 1) they take for granted customary beliefs and assumptions that are far from being unquestionable; 2) they tend to ignore the context in which human cloning is developed. I will analyze some of the assumptions underlying the main arguments that have been offered for and against cloning. Once these assumptions are critically analyzed, arguments both rejecting and supporting human cloning seem to lose weight. I will first briefly present the main arguments that have been proposed against cloning and I will argue that they fail to establish their case. In the next section I will evaluate some of the positive arguments that have been offered supporting such technology. This analysis will show that the case for cloning also fails. Finally, I will maintain that because critics and especially supporters of this technology neglect the context in which human cloning is developed and might be implemented, their arguments are far from compelling.     

Functional genomics in the post-genome era

As the biomedical research community enters the post-genome era, studying gene expression patterns and phenotypes in model organisms will be an important part of analyzing the role of genes in human health and disease. New technologies involving DNA chips will improve the ability to evaluate the differential expression of a large number of genes simultaneously. Also, new approaches for generating mutations in mice will significantly decrease the cost and increase the rate of generating mutant lines that model human disease.     

Streamflow hydrology in the boreal region under the influences of climate and human interference

The boreal region has a subarctic climate that is subject to considerable inter-annual variability and is prone to impacts of future warming. Climate influences the seasonal streamflow regime which typically exhibits winter low flow, terminated by spring freshet, followed by summer flow recession. The effects of climatic variation on streamflow cannot be isolated with confidence but the impact of human regulation of rivers can greatly alter the natural flow rhythm, changing the timing of flow to suit human demands. The effect of scenario climate change on streamflow is explored through hydrological simulation. Example of a Canadian basin under warming scenario suggests that winter flow will increase, spring freshet dates will advance but peak flow will decline, as will summer flow due to enhanced evaporation. While this simulation was site specific, the results are qualitatively applicable to other boreal areas. Future studies should consider the role of human activities as their impacts on streamflow will be more profound than those due to climate change.     

Human Rights Reasoning and Medical Law: A Sceptical Essay

I am sceptical as to the contribution that human rights can make to our evaluation of medical law. I will argue here that viewing medical law through a human rights framework provides no greater clarity, insight or focus. If anything, human rights reasoning clouds any bioethical or evaluative analysis. In Section 1 of this article, I outline the general structure of human rights reasoning. I will describe human rights reasoning as (a) reasoning from rights that each person has ‘by virtue of their humanity’, (b) reasoning from rights that provide ‘hard to defeat’ reasons for action and (c) reasoning from abstract norms to specified duties. I will then argue in Section 2 that, unless we (a) re‐conceive of human rights as narrow categories of liberties, it becomes (b) necessary for our human rights reasoning to gauge the normative force of each claim or liberty. When we apply this approach to disputes in medical law, we (in the best case scenario) end up (c) ‘looking straight through’ the human right to the (disagreement about) values and features that each person has by virtue of their humanity.     

The Future of Tropical Forest Species1

Deforestation and habitat loss are widely expected to precipitate an extinction crisis among tropical forest species. Humans cause deforestation, and humans living in rural settings have the greatest impact on extant forest area in the tropics. Current human demographic trends, including slowing population growth and intense urbanization, give reason to hope that deforestation will slow, natural forest regeneration through secondary succession will accelerate, and the widely anticipated mass extinction of tropical forest species will be avoided. Here, we show that the proportion of potential forest cover remaining is closely correlated with human population density among countries, in both the tropics and the temperate zone. We use United Nations population projections and continent‐specific relationships between both total and rural population density and forest remaining today to project future tropical forest cover. Our projections suggest that deforestation rates will decrease as population growth slows, and that a much larger area will continue to be forested than previous studies suggest. Tropical forests retracted to smaller areas during repeated Pleistocene glacial events in Africa and more recently in selected areas that supported large prehistoric human populations. Despite many caveats, these projections and observations provide hope that many tropical forest species will be able to survive the current wave of deforestation and human population growth. A strategy to preserve tropical biodiversity might include policies to improve conditions in tropical urban settings to hasten urbanization and preemptive conservation efforts in countries with large areas of extant forest and large projected rates of future human population growth. We hope that this first attempt inspires others to produce better models of future tropical forest cover and associated policy recommendations.     

Potenzial und Herausforderungen der personalisierten Genomik und des 1000-Genom-Projekts

The ability to sequence entire individual human genomes has heralded a new era in human genetics. Such advances in sequencing technologies make it possible to address new questions such as the generation of a comprehensive map of common and rare genetic variants in humans. The 1000 Genome Project will analyze 2500 genomes and is expected to greatly expand our knowledge about genomic variation, both on single nucleotide polymorphisms and genomic structural variants in a number of human ethnic populations. Furthermore, the possibility to use these new sequencing technologies for such large scale projects will be evaluated. Finally, new bioinformatics solutions will be developed to efficiently store and process such large volumes of data for the scientific community. This catalogue of common and rare variations will facilitate the development of better methods for phenotype-genotype associations and help uncover the molecular bases for a variety of diseases in the near future.     

A proposal on a contribution of space biological sciences to sexual health in the human space life.

Sexuality is a basic property of the human being and provides an important background for the human life and society. The present situation in the world strongly suggests that the human being will extensively and intensively spread out in space and the population in space, particularly on the space stations in orbit, moon and possibly Mars, will rapidly increase during this century. Therefore sexual health will become a serious issue for the development of space and a better life of the human in the space environment. It is not too early to consider sexuality in the space life and to discuss how to maintain sexual health, how to control it in the space society, or whether it should be controlled. Space biological sciences should be the key and play an important role in studying scientifically sexuality especially the sex, sexual behavior and reproduction in the space environment.     

Subunits of human condensins are potential therapeutic targets for cancers

The main role of condensins is to regulate chromosome condensation and segregation during cell cycles. Recently, it has been suggested in the literatures that subunits of condensin I and condensin II are involved in some human cancers. This paper will first briefly discuss discoveries of human condensins, their components and structures, and their multiple cellular functions. This will be followed by reviews of most recent studies on subunits of human condensins and their dysregulations or mutations in human cancers. It can be concluded that many of these subunits have potentials to be novel targets for cancer therapies. However, hCAP-D2, a subunit of human condensin I, has not been directly documented to be associated with any human cancers to date. This review hypothesizes that hCAP-D2 can also be a potential therapeutic target for human cancers, and therefore that all subunits of human condensins are potential therapeutic targets for human cancers.     

HUMAN NATURE AND ENHANCEMENT

Appeals to the idea of human nature are frequent in the voluminous literature on the ethics of enhancing human beings through biotechnology. Two chief concerns about the impact of enhancements on human nature have been voiced. The first is that enhancement may alter or destroy human nature. The second is that if enhancement alters or destroys human nature, this will undercut our ability to ascertain the good because, for us, the good is determined by our nature. The first concern assumes that altering or destroying human nature is in itself a bad thing. The second concern assumes that human nature provides a standard without which we cannot make coherent, defensible judgments about what is good.
I will argue (1) that there is nothing wrong, per se, with altering or destroying human nature, because, on a plausible understanding of what human nature is, it contains bad as well as good characteristics and there is no reason to believe that eliminating some of the bad would so imperil the good as to make the elimination of the bad impermissible, and (2) that altering or destroying human nature need not result in the loss of our ability to make judgments about the good, because we possess a conception of the good by which we can and do evaluate human nature. I will argue that appeals to human nature tend to obscure rather than illuminate the debate over the ethics of enhancement and can be eliminated in favor of more cogent considerations.     

Reconciling international human rights and cultural relativism: the case of female circumcision

How can we reconcile, in a non-ethnocentric fashion, the enforcement of international, universal human rights standards with the protection of cultural diversity? Examining this question, taking the controversy over female circumcision as a case study, this article will try to bridge the gap between the traditional anthropological view that human rights are non-existent -- or completely relativised to particular cultures -- and the view of Western naturalistic philosophers (including Lockeian philosophers in the natural rights tradition, and Aquinas and neo-Thomists in the natural law tradition) that they are universal -- simply derived from a basic human nature we all share. After briefly defending a universalist conception of human rights, the article will provide a critique of female circumcision as a human rights violation by three principal means: by an internal critique of the practice using the condoning cultures' own functionalist criteria; by identifying supra-national norms the cultures subscribe to which conflict with the practice; and by the identification of traditional and novel values in the cultures, conducive to those norms. Through this analysis, it will be seen that cultural survival, diversity and flourishing need not be incompatible with upholding international, universal human rights standards.     

Progress of analytical tools and techniques for human gut microbiome research

Massive DNA sequencing studies have expanded our insights and understanding of the ecological and functional characteristics of the gut microbiome. Advanced sequencing technologies allow us to understand the close association of the gut microbiome with human health and critical illnesses. In the future, analyses of the gut microbiome will provide key information associating with human individual health, which will help provide personalized health care for diseases. Numerous molecular biological analysis tools have been rapidly developed and employed for the gut microbiome researches; however, methodological differences among researchers lead to inconsistent data, limiting extensive share of data. It is therefore very essential to standardize the current methodologies and establish appropriate pipelines for human gut microbiome research. Herein, we review the methods and procedures currently available for studying the human gut microbiome, including fecal sample collection, metagenomic DNA extraction, massive DNA sequencing, and data analyses with bioinformatics. We believe that this review will contribute to the progress of gut microbiome research in the clinical and practical aspects of human health.     

Applications of the polymerase chain reaction to genome analysis

The objectives of the Human Genome Project are to create high-resolution genetic and physical maps, and ultimately to determine the complete nucleotide sequence of the human genome. The result of this initiative will be to localize the estimated 50,000-100,000 human genes, and acquire information that will enable development of a better understanding of the relationship between genome structure and function. To achieve these goals, new methodologies that provide more rapid, efficient, and cost effective means of genomic analysis will be required. From both conceptual and practical perspectives, the polymerase chain reaction (PCR) represents a fundamental technology for genome mapping and sequencing. The availability of PCR has allowed definition of a technically credible form that the final composite map of the human genome will take, as described in the sequence-tagged site proposal. Moreover, applications of PCR have provided efficient approaches for identifying, isolating, mapping, and sequencing DNA, many of which are amenable to automation. The versatility and power provided by PCR have encouraged its involvement in almost every aspect of human genome research, with new applications of PCR being developed on a continual basis.     

New molecular approaches to tissue analysis.

The completion of the Human Genome Project will produce new opportunities for analysis of genes and their products in human tissue. The emergence of new technologies will enable investigators to directly examine human tissues for gene deletion, transposition, and amplification. In addition, we will be able to assess the complete gene expression of a tissue by examining the mRNA species using microarray chips. The emerging technologies of laser capture microdissection and RNA amplification enables these procedures to be carried out on groups of a few hundred cells, which will facilitate the examination of heterogeneous lesions. Finally, the application of tissue arrays and the capability of obtaining protein sequences in samples of only a few femtomoles of protein using desorption mass spectroscopy will revolutionize the analysis of protein expression.