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Genetics Research (genetics + research)
Selected AbstractsThe politics of risk and trust in mental healthCRITICAL QUARTERLY, Issue 3 2004John Wilkinson This essay provides a critical account of Risk Society theory through analysis of an article by ,I,ek on human genetics research, using this as a basis for distinguishing a range of meanings of 'risk' and describing their interplay within the mental health domain. The paper argues that mental health policy in the UK has been distorted through a preoccupation with a supposedly scientific practice of risk assessment which uncannily reflects popular and tabloid prejudice. It is argued that Risk Society theory does not, as its proponents claim, supersede the politics of inclusion and exclusion, so much as overlay and disguise them. The importance of Risk Society theory in the development of Third Way politics would invite a similarly critical view of a range of contemporary British social policy. [source] Genetics of inflammasome-associated disorders: A lesson in the guiding principals of inflammasome functionEUROPEAN JOURNAL OF IMMUNOLOGY, Issue 3 2010Ian Gaël Rodrigue-Gervais Abstract Human genetics research has had a great impact on the genesis of the inflammasome field and the treatment of certain inflammasomopathies. The identification of mutations causing rare autoinflammatory syndromes, reproductive wastage disorders and of single nucleotide polymorphisms influencing susceptibility to complex diseases such as vitiligo, sepsis, and Crohn's disease has not only led to the characterization of novel proteins involved in NOD-like receptor-coupled inflammatory signaling pathways but also to greater insights into pathogenic mechanisms. [source] The genesis of new and exciting developmental genetics researchGENESIS: THE JOURNAL OF GENETICS AND DEVELOPMENT, Issue 1 2010Sally A. Moody No abstract is available for this article. [source] Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders,,HUMAN MUTATION, Issue 4 2003Michael Dean Abstract The focus of most molecular genetics research is the identification of genes involved in human disease. In the 20th century, genetics progressed from the rediscovery of Mendel's Laws to the identification of nearly every Mendelian genetic disease. At this pace, the genetic component of all complex human diseases could be identified by the end of the 21st century, and rational therapies could be developed. However, it is clear that no one approach will identify the genes for all diseases with a genetic component, because multiple mechanisms are involved in altering human phenotypes, including common alleles with small to moderate effects, rare alleles with moderate to large effects, complex gene,gene and gene,environment interactions, genomic alterations, and noninherited genetic effects. The knowledge gained from the study of Mendelian diseases may be applied to future research that combines linkage-based, association-based, and sequence-based approaches to detect most disease alleles. The technology to complete these studies is at hand and requires that modest improvements be applied on a wide scale. Improved analytical tools, phenotypic characterizations, and functional analyses will enable complete understanding of the genetic basis of complex diseases. Hum Mutat 22:261,274, 2003. Published © 2003 Wiley-Liss, Inc. [source] Arrhythmogenic Right Ventricular Dyspiasia/Cardiomyopathy:JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 7 2000Need for an International Registry. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a heart muscle disease characterized by peculiar right ventricular involvement and electrical instability that precipitates ventricular arrhythmias and sudden death. The purpose of the present consensus report of the Study Group of the European Society of Cardiology and the Scientific Council on Cardiomyopathies of the World Heart Federation is to review the considerable progress in our understanding of the etiopathogenesis, morbid anatomy, and clinical presentation of ARVD/C since its first description in 1977. This article will focus on the important hut still unanswered issues, mostly regarding risk stratification, clinical outcome, and management of affected patients. Because ARVD/C is relatively uncommon and any one center may have experience with only a few patients, an international registry is being established to accumulate information and enhance the numbers of patients that can be analyzed to answer the pending questions. The registry also will facilitate pathologic, molecular, and genetics research on the etiology and pathogenesis of the disease. Furthermore, availability of an international database will enhance awareness of this largely unrecognized condition among the medical community. Physicians are encouraged to enroll patients in the International Registry of ARVD/C. [source] A preliminary examination of the intergenerational continuity of maternal psychopathic featuresAGGRESSIVE BEHAVIOR, Issue 1 2007Bryan R. Loney Abstract The study provided a preliminary test of the intergenerational continuity of maternal psychopathic features in a non-referred elementary aged sample of children. Consistent with dominant etiological models and recent behavioral genetics research, a direct association was expected between maternal and child affective features of psychopathy (i.e., callous,unemotional or CU traits). Potential mediators representative of alternative transmission mechanisms were assessed including parenting dysfunction, parental hostility/interpersonal insensitivity, and child impulsivity. Behavioral features of psychopathy were also assessed and were predicted to bear weaker and more indirect parent,child associations. A mixed sex sample of 83 children accompanied by a biological mother were administered a multi-informant rating-scale battery including separate parent (i.e., Levenson Self-Report Psychopathy Scale) and child (i.e., Antisocial Process Screening Device) measures of psychopathy. Consistent with prediction, a significant association was documented between maternal and child CU traits (r=.22). Additionally, a slightly weaker association and statistical trend (r=.21) was observed in the relation between maternal and child interpersonal features of the psychopathy construct. Contrary to prediction, all documented associations were fully mediated by parental hostility and parenting dysfunction. Given the preliminary nature of study findings, implications for developmental modeling and future intergenerational continuity research are discussed. Aggr. Behav. 33:14,25, 2007. © 2006 Wiley-Liss; Inc. [source] Darwinism, behavioral genetics, and organizational behavior: a review and agenda for future researchJOURNAL OF ORGANIZATIONAL BEHAVIOR, Issue 2 2006Remus Ilies In this article, a case is made for the importance of evolutionary processes and behavioral genetics for organizational behavior. First, we present scientific arguments connecting evolutionary biology and psychology, Darwinian theories, behavioral genetics, and individual differences. Second, we provide a review of behavioral genetics research on constructs relevant to organizational behavior, such as cognitive ability, personality, work attitudes, and leadership. Third, we discuss mechanisms explaining genetic influences on organizational outcomes such as attitudes and leadership. Finally, current issues in behavioral genetics research in general and their implications for organizational behavior are discussed. We also discuss issues specific to conducting research on genetic effects influencing constructs from the organizational realm, and offer suggestions for future research. Copyright © 2006 John Wiley & Sons, Ltd. [source] Tuberculosis and leprosy in perspectiveAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue S49 2009Anne C. Stone Abstract Two of humankind's most socially and psychologically devastating diseases, tuberculosis and leprosy, have been the subject of intensive paleopathological research due to their antiquity, a presumed association with human settlement and subsistence patterns, and their propensity to leave characteristic lesions on skeletal and mummified remains. Despite a long history of medical research and the development of effective chemotherapy, these diseases remain global health threats even in the 21st century, and as such, their causative agents Mycobacterium tuberculosis and M. leprae, respectively, have recently been the subject of molecular genetics research. The new genome-level data for several mycobacterial species have informed extensive phylogenetic analyses that call into question previously accepted theories concerning the origins and antiquity of these diseases. Of special note is the fact that all new models are in broad agreement that human TB predated that in other animals, including cattle and other domesticates, and that this disease originated at least 35,000 years ago and probably closer to 2.6 million years ago. In this work, we review current phylogenetic and biogeographic models derived from molecular biology and explore their implications for the global development of TB and leprosy, past and present. In so doing, we also briefly review the skeletal evidence for TB and leprosy, explore the current status of these pathogens, critically consider current methods for identifying ancient mycobacterial DNA, and evaluate coevolutionary models. Yrbk Phys Anthropol 52:66,94, 2009. © 2009 Wiley-Liss, Inc. [source] Population Genomics and Research Ethics with Socially Identifable GroupsTHE JOURNAL OF LAW, MEDICINE & ETHICS, Issue 3 2007Joan L. McGregor In this paper, the author questions whether the research ethics guidelines and procedures are robust enough to protect groups when conducting genetics research with socially identifiable populations, particularly with Native American groups. The author argues for a change in the federal guidelines in substance and procedures of conducting genetic research with socially identifiable groups. [source] Combining Microarray-based Genomic Selection (MGS) with the Illumina Genome Analyzer Platform to Sequence Diploid Target RegionsANNALS OF HUMAN GENETICS, Issue 5 2009David T. Okou Summary Novel methods of targeted sequencing of unique regions from complex eukaryotic genomes have generated a great deal of excitement, but critical demonstrations of these methods efficacy with respect to diploid genotype calling and experimental variation are lacking. To address this issue, we optimized microarray-based genomic selection (MGS) for use with the Illumina Genome Analyzer (IGA). A set of 202 fragments (304 kb total) contained within a 1.7 Mb genomic region on human chromosome X were MGS/IGA sequenced in ten female HapMap samples generating a total of 2.4 GB of DNA sequence. At a minimum coverage threshold of 5X, 93.9% of all bases and 94.9% of segregating sites were called, while 57.7% of bases (57.4% of segregating sites) were called at a 50X threshold. Data accuracy at known segregating sites was 98.9% at 5X coverage, rising to 99.6% at 50X coverage. Accuracy at homozygous sites was 98.7% at 5X sequence coverage and 99.5% at 50X coverage. Although accuracy at heterozygous sites was modestly lower, it was still over 92% at 5X coverage and increased to nearly 97% at 50X coverage. These data provide the first demonstration that MGS/IGA sequencing can generate the very high quality sequence data necessary for human genetics research. All sequences generated in this study have been deposited in NCBI Short Read Archive (http://www.ncbi.nlm.nih.gov/Traces/sra, Accession # SRA007913). [source] Opening up the secret city of Stepnogorsk: biological weapons in the Former Soviet UnionAREA, Issue 1 2010Caitríona McLeish For almost 30 years, the Soviet government hid a large part of its biological weapons programme behind the façade of a network of civilian bio-technology facilities, called the All-Union Production Association Biopreparat, which were established to overcome deficiencies in molecular biology and genetics research. This paper, which is developed from a presentation given during an ESRC-sponsored seminar series, ,Locating Technoscience: The Geographies of Science, Technology and Politics', details the secret geography of one of those Biopreparat facilities located in Stepnogorsk, Kazakhstan. In doing this the paper illustrates how secret geographies can operate simultaneously, and at multiple scales. In the case of the Soviet bio-weapons programme, enacting secrecy at these multiple scales was made possible by the purposeful exploitation of ,dual use' technologies. By recounting a trip made to the Kazak facility, and using personal communications with UK and US experts involved with uncovering the Soviet bio-warfare programme, the author addresses some of the methodological challenges involved with researching secret geographies. This case study therefore looks in several directions , to work on the geographies of scale, research on the geographies of knowledge and work on secrecy in science and technology studies. [source] | ||||||||||||||||