2,143 research outputs found

    The road to precision oncology

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    The ultimate goal of precision medicine is to use population-based molecular, clinical and other data to make individually tailored clinical decisions for patients, although the path to achieving this goal is not entirely clear. A new study shows how knowledge banks of patient data can be used to make individual treatment decisions in acute myeloid leukemia

    Automatic Quantification of Epidermis Curvature in H&E Stained Microscopic Skin Image of Mice

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    Changes in the curvature of the epidermis layer is often associated with many skin disorders, such as ichthyoses and generic effects of ageing. Therefore, methods to quantify changes in the curvature are of a scientific and clinical interest. Manual methods to determine curvature are both laborious and intractable to large scale investigations. This paper proposes an automatic algorithm to quantify curvature of microscope images of H&E-stained murine skin. The algorithm can be divided into three key stages. First, skin layers segmentation based on colour deconvolution to separate the original image into three channels of different representations to facilitate segmenting the image into multiple layers, namely epidermis, dermis and subcutaneous layers. The algorithm then further segments the epidermis layer into cornified and basal sub-layers. Secondly, it quantifies the curvature of the epidermis layer by measuring the difference between the epidermis edge and a straight line (theoretical reference line) connecting the two far sides of the epidermis edge. Finally, the curvature measurements extracted from a large number of images of mutant mice are used to identify a list of genes responsible for changes in the epidermis curvature. A dataset of 5714 H&E microscopic images of mutant and wild type mice were used to evaluate the effectiveness of the algorithm

    The Nobel Prize as a Reward Mechanism in the Genomics Era: Anonymous Researchers, Visible Managers and the Ethics of Excellence

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    The Human Genome Project (HGP) is regarded by many as one of the major scientific achievements in recent science history, a large-scale endeavour that is changing the way in which biomedical research is done and expected, moreover, to yield considerable benefit for society. Thus, since the completion of the human genome sequencing effort, a debate has emerged over the question whether this effort merits to be awarded a Nobel Prize and if so, who should be the one(s) to receive it, as (according to current procedures) no more than three individuals can be selected. In this article, the HGP is taken as a case study to consider the ethical question to what extent it is still possible, in an era of big science, of large-scale consortia and global team work, to acknowledge and reward individual contributions to important breakthroughs in biomedical fields. Is it still viable to single out individuals for their decisive contributions in order to reward them in a fair and convincing way? Whereas the concept of the Nobel prize as such seems to reflect an archetypical view of scientists as solitary researchers who, at a certain point in their careers, make their one decisive discovery, this vision has proven to be problematic from the very outset. Already during the first decade of the Nobel era, Ivan Pavlov was denied the Prize several times before finally receiving it, on the basis of the argument that he had been active as a research manager (a designer and supervisor of research projects) rather than as a researcher himself. The question then is whether, in the case of the HGP, a research effort that involved the contributions of hundreds or even thousands of researchers worldwide, it is still possible to “individualise” the Prize? The “HGP Nobel Prize problem” is regarded as an exemplary issue in current research ethics, highlighting a number of quandaries and trends involved in contemporary life science research practices more broadly

    Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice

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    This study set out to explore the attitudes of a representative sample of the British public towards genetic testing in children to predict disease in the future. We sought opinions about genetic testing for adult-onset conditions for which no prevention/treatment is available during childhood, and about genetic 'carrier' status to assess future reproductive risks. The study also examined participants' level of agreement with the reasons professional organisations give in favour of deferring such testing. Participants (n=2998) completed a specially designed questionnaire, distributed by email. Nearly half of the sample (47%) agreed that parents should be able to test their child for adult-onset conditions, even if there is no treatment or prevention at time of testing. This runs contrary to professional guidance about genetic testing in children. Testing for carrier status was supported by a larger proportion (60%). A child's future ability to decide for her/himself if and when to be tested was the least supported argument in favour of deferring testing.European Journal of Human Genetics advance online publication, 5 November 2014; doi:10.1038/ejhg.2014.221
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