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Genetic Research (genetic + research)
Selected AbstractsGOOD GIFTS FOR THE COMMON GOOD: Blood and Bioethics in the Market of Genetic ResearchCULTURAL ANTHROPOLOGY, Issue 3 2007DEEPA S. REDDY This article is based on ethnographic fieldwork conducted with the Indian community in Houston, as part of a NIH,NHGRI-sponsored ethics study and sample collection initiative entitled "Indian and Hindu Perspectives on Genetic Variation Research." At the heart of this research is one central exchange,blood samples donated for genetic research,that draws both the Indian community and a community of researchers into an encounter with bioethics. I consider the meanings that come to be associated with blood donation as it passes through various hands, agendas, and associated ethical filters on its way to the lab bench: how and why blood is solicited, how the giving and taking of blood is rationalized, how blood as material substance is alienated, processed, documented, and made available for the promised ends of basic science research. Examining corporeal substances and asking what sorts of gifts and problems these represent, I argue, sheds some light on two imbricated tensions expressed by a community of Indians, on the one hand, and of geneticists and basic science researchers, on the other hand: that gifts ought to be free (but are not), and that science ought to be pure (but is not). In this article, I explore how experiences of bioethics are variously shaped by the histories and habits of Indic giving, prior sample collection controversies, commitments to "good science" and the common "good of humanity," and negotiations of the sites where research findings circulate. [source] Interrelationships among Native Peoples, Genetic Research, and the Landscape: Need for Further Research into Ethical, Legal, and Social IssuesTHE JOURNAL OF LAW, MEDICINE & ETHICS, Issue 2 2006Mervyn L. Tano J.D. To understand the impacts of development on native peoples requires an understanding of how their genetic make-up is implicated in their relationship with their landscapes. This is an area ripe for more research. The ASLME project on DNA Fingerprinting and Civil Liberties proposed improvements to the ethical and legal safeguards for the collection and storage of DNA-derived genetic information. Native peoples have proposed a similar examination of the ethical and legal issues related to the collection and storage of their genetic information obtained via family histories and genealogies. [source] Conflicting Notions of Personhood in Genetic ResearchANTHROPOLOGY TODAY, Issue 5 2002Klaus Høyer First page of article [source] The Ethics of Genetic Research of IntelligenceBIOETHICS, Issue 1 2000Michael J. Reiss Should research on the possible genetic components of human intelligence be carried out? I first try to provide some general guidelines as to whether any particular piece of research should be undertaken and then consider the specific example of the ethics of genetic research on intelligence. The history of the debate on intelligence does not make one very optimistic that the fruits of such research would be used wisely. However, there are indications that people's understanding of the nature of inheritance may be improving and it could be that such research might have significant benefits. It is worth remembering than the condition phenylketonuria, a genetic disease in any useful sense of the term, and one that leads to mental retardation (i.e. very low intelligence), is now wholly preventable, and indeed very largely prevented, through environmental intervention. [source] The Gene Illusion: Genetic Research in Psychiatry and Psychology under the MicroscopeBRITISH JOURNAL OF LEARNING DISABILITIES, Issue 1 2004Chris Goodey No abstract is available for this article. [source] Alcohol genetics: will the promise be fulfilled?ADDICTION BIOLOGY, Issue 4 2000Chris Cook Genetic research into alcohol-related problems has a long history, but only with the recent advent of molecular biological techniques does it seem poised to fulfill its promise. While such research might be thought to reinforce views of the inevitability and immutability of drinking problems, there have been bold promises of important developments in our understanding of the aetiology of alcohol misuse, as well as promises of innovations in prevention and treatment. A brief consideration of recent research, and of the possibilities that are now before us, reveals that the promise of increased understanding of the aetiology of alcohol misuse is already being fulfilled. Promises of new preventive and therapeutic interventions, if they also are to be fulfilled, require that a number of practical and ethical issues be addressed. Clinicians, researchers and others in the addictions field need to begin to address the ethical issues that are raised. [source] Genetic research into Alzheimer's Disease: a European focus group study on ethical issuesINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 1 2008Anco van der Vorm Abstract Background Nowadays, there is an increasing interest in the heritable aspects of Alzheimer's Disease (AD). The ethical implications of this kind of research are also attracting attention. However, relatively few open-ended qualitative studies have been carried out to study these aspects. Objective To explore and analyse ethical issues raised by genetic research into AD. Methods A modified focus group technique. Results Participants stressed the importance of relatives in genetic research and suggested a family consent procedure. The consent procedure ought to be more uniform within Europe and should allow for variation in the types of research being done. The long-term results of genetic research into AD are expected to be positive while the short-term results seem likely to be negative. The perception of AD as a disease could be changed by the results from genetic research into AD, and this could have effects at the individual level (feelings of guilt and responsibility for one's own health). Conclusions (1) The role of the family in genetic AD research differs from its role in other biomedical research into AD. The development of a family consent procedure might solve some informed consent problems. (2) Negative social consequences of genetic AD research are expected in the short term, but there are hopes of positive consequences in the long term. Copyright © 2007 John Wiley & Sons, Ltd. [source] Medical ethics in the 21st centuryJOURNAL OF INTERNAL MEDICINE, Issue 1 2000M. Parker Abstract. Parker M, Hope T (Institute of Health Sciences, Headington, Oxford, UK). Medical ethics in the 21st century. J Intern Med 2000; 248: 1,6. Objectives. To foresee how medical ethics may develop in the 21st century. Design. We have looked into our crystal ball to see what factors are likely to drive medical ethics over the next few decades. We have given examples of how such factors might affect specific issues. Results. Those factors that we identified as likely to shape the future of medical ethics are: Globalization. Medical ethics is likely to have to grapple increasingly with ethical issues arising from the huge discrepancies in the level of health care available in different countries. Increase in longevity. We predict that there will be, at least amongst the richer nations, a significant increase in life expectancy. This will result in issues of resource allocation becoming increasingly problematic within medicine. Child enhancement. Developments in genetics combined with control of reproduction will make it possible to select our children for a broad range of characteristics. There are optimistic and pessimistic predictions as to how such power will be used. In either case, this area will be an important focus of concern in medical ethics. The biological determination of behaviour. Genetic research will lead to an increasing sense that undesirable behaviour is genetically determined. This will lead to a re-examination of such concepts as criminal responsibility. Therapeutic research and clinical practice. We predict that an increasing amount of clinical practice will be within the setting of clinical trials. The ethics of therapeutic research and clinical practice will need to be brought within a coherent framework. [source] GOOD GIFTS FOR THE COMMON GOOD: Blood and Bioethics in the Market of Genetic ResearchCULTURAL ANTHROPOLOGY, Issue 3 2007DEEPA S. REDDY This article is based on ethnographic fieldwork conducted with the Indian community in Houston, as part of a NIH,NHGRI-sponsored ethics study and sample collection initiative entitled "Indian and Hindu Perspectives on Genetic Variation Research." At the heart of this research is one central exchange,blood samples donated for genetic research,that draws both the Indian community and a community of researchers into an encounter with bioethics. I consider the meanings that come to be associated with blood donation as it passes through various hands, agendas, and associated ethical filters on its way to the lab bench: how and why blood is solicited, how the giving and taking of blood is rationalized, how blood as material substance is alienated, processed, documented, and made available for the promised ends of basic science research. Examining corporeal substances and asking what sorts of gifts and problems these represent, I argue, sheds some light on two imbricated tensions expressed by a community of Indians, on the one hand, and of geneticists and basic science researchers, on the other hand: that gifts ought to be free (but are not), and that science ought to be pure (but is not). In this article, I explore how experiences of bioethics are variously shaped by the histories and habits of Indic giving, prior sample collection controversies, commitments to "good science" and the common "good of humanity," and negotiations of the sites where research findings circulate. [source] WOMEN IN DEVELOPING COUNTRIES AND BENEFIT SHARINGDEVELOPING WORLD BIOETHICS, Issue 3 2006FATIMA ALVAREZ-CASTILLO ABSTRACT The aim of this paper is to show that any process of benefit sharing that does not guarantee the representation and participation of women in the decision-making process, as well as in the distribution of benefits, contravenes a central demand of social justice. It is argued that women, particularly in developing countries, can be excluded from benefits derived from genetic research because of existing social structures that promote and maintain discrimination. The paper describes how the structural problem of gender-based inequity can impact on benefit sharing processes. At the same time, examples are given of poor women's ability to organise themselves and to achieve social benefits for entire communities. Relevant international guidelines (e.g. the Convention on Biodiversity) recognise the importance of women's contributions to the protection of biodiversity and thereby, implicitly, their right to a share of the benefits, but no mechanism is outlined on how to bring this about. The authors make a clear recommendation to ensure women's participation in benefit sharing negotiations by demanding seats at the negotiation table. [source] Osteoporosis in adults with cerebral palsyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 2009KEVIN J SHERIDAN MD Life expectancy for the 400 000 adults with cerebral palsy (CP) in the USA is increasing. Although there is a perception of increased fractured rate in the adult with CP, it has not been well studied. Low bone mineral density is found in more than 50% of adults with a variety of disabilities, including CP. Dual-energy X-ray absorptiometry scanning is commonly used to assess bone mineral density, but is limited by positioning and other artifacts in adults with CP. Novel scanning regions of interest, such as the distal femur, are not yet standardized in adults. Nutritional assessment and physical activity, the basis of most fracture prevention programs, are difficult to do in the adult with CP. A better understanding of the ,muscle-bone unit' physiology and its exploitation may lead to better treatment modifications. Clinical research trials with bisphosphonates (e.g. pamidronate), estrogen, selective estrogen receptor modulators, parathyroid hormone analogs, and growth hormone need to be targeted to the adult with CP. Longitudinal studies of fracture risk factors, genetic research in bone and neuromuscular biology, and the development of treatment surrogates for physical activity are additional areas of needed expertise. This could be facilitated by an adult CP registry and the centralization of clinical research efforts. [source] Accelerated nervous system development contributes to behavioral efficiency in the laboratory mouse: A behavioral review and theoretical proposalDEVELOPMENTAL PSYCHOBIOLOGY, Issue 3 2001Ian Q. Whishaw Abstract The emergence of the laboratory mouse as a favored species for genetic research has posed a number of problems for scientists interested in the reflection of genetic influences in mouse behavior. It is commonly thought that rat behavior, which has been studied more extensively than mouse behavior, could be easily generalized to mice. In this article, a number of categories of behavior displayed by the mouse (motor, spatial, defensive, social) are reviewed and contrasted with the same categories of behavior displayed by the rat. The comparison suggests that mouse behavior is simpler and more dependent upon elementary actions than the behavior of the rat. We suggest that the behavioral simplification in the mouse adapts it for a different ecological niche than that occupied by the rat. We propose that this simplification may be mediated by accelerated brain maturation during development. We further propose that this developmental acceleration in the mouse renders it less dependent upon complex social behavior and plastic nervous system changes associated with learning than the rat. This difference poses problems for the development of relevant methods of behavioral analysis and interpretation. Since the mouse's biological adaptations will be reflected in laboratory behavior, suggestions are made for behavioral approaches to the study and interpretation of mouse behavior. © 2001 John Wiley & Sons, Inc. Dev Psychobiol 39: 151,170, 2001 [source] The genetics of autismACTA PSYCHIATRICA SCANDINAVICA, Issue 6 2001M. Lauritsen Objective: To review systematically the empirical evidence for the involvement of genetic risk factors in infantile autism. Method: We aimed at including all relevant papers written in English. We conducted a Medline search in September 2000. In addition we searched the reference lists of related papers. Results: A relatively small number of reports including family and twin studies, comorbidity, cytogenetic and molecular genetic studies were reviewed. Conclusion: As well family, twin, cytogenetic and molecular genetic studies supported the importance of genetic risk factors in infantile autism. In most individual cases probably at least a few gene variants simultaneously determine the genetic risk. Presently the most interesting chromosome regions concerning the aetiology of autism are chromosomes 7q31,35, 15q11,13 and 16p13.3 which have been suggested by different lines of genetic research. [source] Fetal Mouse Imaging Using Echocardiography: A Review of Current TechnologyECHOCARDIOGRAPHY, Issue 10 2006Christopher F. Spurney M.D. Advances in genetic research have led to the need for phenotypic analysis of small animal models. However, often these genetic alterations, especially when affecting the cardiovascular system, can result in fetal or perinatal death. Noninvasive ultrasound imaging is an ideal method for detecting and studying such congenital malformations, as it allows early recognition of abnormalities in the living fetus and the progression of disease can be followed in utero with longitudinal studies. Two platforms for fetal mouse echocardiography exist, the clinical systems with 15-MHz phased array transducers and research systems with 20,55-MHz mechanical transducers. The clinical ultrasound system has limited two-dimensional (2D) resolution (axial resolution of 440 ,m), but the availability of color and spectral Doppler allows quick interrogations of blood flows, facilitating the detection of structural abnormalities. M-mode imaging further provides important functional data, although, the proper imaging planes are often difficult to obtain. In comparison, the research biomicroscope system has significantly improved 2D resolution (axial resolution of 28 ,m). Spectral Doppler imaging is also available, but in the absence of color Doppler, imaging times are increased and the detection of flow abnormalities is more difficult. M-mode imaging is available and equivalent to the clinical ultrasound system. Overall, the research system, given its higher 2D resolution, is best suited for in-depth analysis of mouse fetal cardiovascular structure and function, while the clinical ultrasound systems, equipped with phase array transducers and color Doppler imaging, are ideal for high-throughput fetal cardiovascular screens. [source] ,To prove this is the industry's best hope': big tobacco's support of research on the genetics of nicotine addictionADDICTION, Issue 6 2010Kenneth R. Gundle ABSTRACT Background New molecular techniques focus a genetic lens upon nicotine addiction. Given the medical and economic costs associated with smoking, innovative approaches to smoking cessation and prevention must be pursued; but can sound research be manipulated by the tobacco industry? Methodology The chronological narrative of this paper was created using iterative reviews of primary sources (the Legacy Tobacco Documents), supplemented with secondary literature to provide a broader context. The empirical data inform an ethics and policy analysis of tobacco industry-funded research. Findings The search for a genetic basis for smoking is consistent with industry's decades-long plan to deflect responsibility away from the tobacco companies and onto individuals' genetic constitutions. Internal documents reveal long-standing support for genetic research as a strategy to relieve the tobacco industry of its legal responsibility for tobacco-related disease. Conclusions Industry may turn the findings of genetics to its own ends, changing strategy from creating a ,safe' cigarette to defining a ,safe' smoker. [source] Ethical, Legal, and Social Dimensions of Epilepsy GeneticsEPILEPSIA, Issue 10 2006Sara Shostak Summary:,Purpose: Emerging genetic information and the availability of genetic testing has the potential to increase understanding of the disease and improve clinical management of some types of epilepsy. However, genetic testing is also likely to raise significant ethical, legal, and social issues for people with epilepsy, their family members, and their health care providers. We review the genetic and social dimensions of epilepsy relevant to understanding the complex questions raised by epilepsy genetics. Methods: We reviewed two literatures: (a) research on the genetics of epilepsy, and (b) social science research on the social experience and social consequences of epilepsy. For each, we note key empiric findings and discuss their implications with regard to the consequences of emerging genetic information about epilepsy. We also briefly review available principles and guidelines from professional and advocacy groups that might help to direct efforts to ascertain and address the ethical, legal, and social dimensions of genetic testing for epilepsy. Results: Genetic information about epilepsy may pose significant challenges for people with epilepsy and their family members. Although some general resources are available for navigating this complex new terrain, no guidelines specific to epilepsy have yet been developed to assist people with epilepsy, their family members, or their health care providers. Conclusions: Research is needed on the ethical, legal, and social concerns raised by genetic research on epilepsy and the advent of genetic testing. This research should include the perspectives of people with epilepsy and their family members, as well as those of health care professionals, policymakers, and bioethicists. [source] Analysis of genetic influences on the consistency and variability of the Big Five across different stressful situationsEUROPEAN JOURNAL OF PERSONALITY, Issue 5 2001Gerty Lensvelt-Mulders Several studies have demonstrated that individual differences in personality traits, known as the Big Five, have a genetic component. These personality traits are considered important predictors of everyday behaviour. In addition to personality traits there are also factors in the environment that govern behaviour. This dual influence on behaviour is statistically reflected in a P,×,S interaction. This study examines the genetic and environmental influences on the interactions between a person and his daily life environment for the Big Five. Fifty-seven identical twin pairs and 43 fraternal twin pairs participated in this study. Trait related behaviour was measured in 30 different situations with the aid of an SR inventory. The heritability coefficients for the main effect of P were in the normal range, varying between 0.35 for Agreeableness and 0.53 for Conscientiousness. The heritability coefficients for the P,×,S interactions were moderately high, explaining between 26% and 69% of the total P,×,S variance. The consequences of these results for general and behavioural genetic research on the Big Five will be discussed. Copyright © 2001 John Wiley & Sons, Ltd. [source] Genetic Probes of Three Theories of Maternal Adjustment: I. Recent Evidence and a Model,FAMILY PROCESS, Issue 3 2001David Reiss M.D. Studies focusing on genetic and social influences on maternal adjustment will illumine mother's marriage, parenting, and the development of psychopathology in her children. Recent behavioral genetic research suggests mechanisms by which genetic and social influences determine psychological development and adjustment. First, heritable, personal attributes may influence individuals' relationships with their family members. These genetically influenced family patterns may amplify the effects of adverse, heritable personal attributes on adjustment. Second, influences unique to siblings may be the most important environmental determinants of adjustment. We derive three hypotheses on maternal adjustment from integrating these findings from genetic studies with other contemporary research on maternal adjustment. First, mother's marriage mediates the influence of her heritable, personal attributes on her adjustment. Second, mother's recall of how she was parented is partially genetically influenced, and both her relationships with her spouse and her child mediate the impact of these genetically influenced representations on her current adjustment. Third, characteristics of mother's spouse are important influences on difference between her adjustment and that of her sister's These sibling-specific influences are unrelated to mother's heritable attributes. The current article develops this model, and the companion article describes the Twin Mom Study that was designed to test it as well, as its first findings. Data from this study can illumine the role of family process in the expression of genetic influence and lead to specific family interventions designed to offset adverse genetic influences. [source] Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria?GENES, BRAIN AND BEHAVIOR, Issue 2 2008V. Bogaerts Parkinson's disease (PD) is a progressive neurodegenerative movement disorder and in most patients its aetiology remains unknown. Molecular genetic studies in familial forms of the disease identified key proteins involved in PD pathogenesis, and support a major role for mitochondrial dysfunction, which is also of significant importance to the common sporadic forms of PD. While current treatments temporarily alleviate symptoms, they do not halt disease progression. Drugs that target the underlying pathways to PD pathogenesis, including mitochondrial dysfunction, therefore hold great promise for neuroprotection in PD. Here we summarize how the proteins identified through genetic research (,-synuclein, parkin, PINK1, DJ-1, LRRK2 and HTRA2) fit into and add to our current understanding of the role of mitochondrial dysfunction in PD. We highlight how these genetic findings provided us with suitable animal models and critically review how the gained insights will contribute to better therapies for PD. [source] Who should fund and control the direction of human behavior genetics?GENES, BRAIN AND BEHAVIOR, Issue 6 2003Genetics, Human Behaviour: the Ethical Context, Review of Nuffield Council on Bioethics 2002 Report In this (Nuffield Council on Bioethics 2002), the third in its series on ethics and related issues in genetics (see also Nuffield Council on Bioethics 1993 and Nuffield Council on Bioethics 1998), the Nuffield Council has focused on four ,normal' behaviors; intelligence, personality, antisocial behavior and sexual orientation. This is a narrow range of behaviors and one where their discussion of the potential impact of predictive genetic testing is probably inappropriate. They also take an unduly narrow view of the purposes of behavior genetics in the 21st century. It is not simply to estimate heritability but to understand more about the structure of behavior and the processes which underlie it. Their narrow focus and their negative approach to the history and achievements of genetics is reflected in their less than positive support for future behavior genetic research. Behavior geneticists need to do more to publicize what their field has achieved in order to counter the very extensive antibehavior genetics initiatives which are almost unique in science. At the same time, organizations such as the Nuffield Council need to consider carefully the impact their deliberations may have on research funding. [source] Genetic research into Alzheimer's Disease: a European focus group study on ethical issuesINTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY, Issue 1 2008Anco van der Vorm Abstract Background Nowadays, there is an increasing interest in the heritable aspects of Alzheimer's Disease (AD). The ethical implications of this kind of research are also attracting attention. However, relatively few open-ended qualitative studies have been carried out to study these aspects. Objective To explore and analyse ethical issues raised by genetic research into AD. Methods A modified focus group technique. Results Participants stressed the importance of relatives in genetic research and suggested a family consent procedure. The consent procedure ought to be more uniform within Europe and should allow for variation in the types of research being done. The long-term results of genetic research into AD are expected to be positive while the short-term results seem likely to be negative. The perception of AD as a disease could be changed by the results from genetic research into AD, and this could have effects at the individual level (feelings of guilt and responsibility for one's own health). Conclusions (1) The role of the family in genetic AD research differs from its role in other biomedical research into AD. The development of a family consent procedure might solve some informed consent problems. (2) Negative social consequences of genetic AD research are expected in the short term, but there are hopes of positive consequences in the long term. Copyright © 2007 John Wiley & Sons, Ltd. [source] Genetic Epidemiological Approaches to the Search for Osteoporosis GenesJOURNAL OF BONE AND MINERAL RESEARCH, Issue 3 2000T. V. Nguyen Important progress has been made in the identification of specific environmental factors and estimation of hereditary components in bone density, quantitative ultrasound (QUS), and bone turnover indices. By contrast, the search for specific genes that regulate bone mass has progressed rather slowly, and the results are more difficult to interpret and reproduce. This article reviews the genetics of osteoporosis and problems plaguing genetic research. It is argued that the search for genes involved in the expression of osteoporotic phenotypes should be based on linkage studies in relatively homogeneous populations. Strategies for increasing the power of studies, such as making use of information from extended pedigrees and multivariate analysis, are discussed. With the advent of a comprehensive human genetic linkage map, a complete identification of genes for osteoporosis appears feasible. Understanding the genetic mechanisms and their interactions with environmental factors should allow more focused and cost-effective osteoporosis prevention and treatment strategies. [source] Genomics and Cardiovascular DiseaseJOURNAL OF NURSING SCHOLARSHIP, Issue 4 2005Lorraine Frazier Purpose: To describe genetic knowledge and discovery in the area of cardiovascular disease (CVD) and to discuss how these new advances will influence the clinical care of affected people. Organizing Framework: A selective review of the literature is presented on the disease mechanism of both the Mendelian and multifactorial genetic cardiovascular conditions. A case study approach is used to illustrate how the genetic paradigm affects the healthcare experience of a family affected with familial hypertrophic cardiomyopathy. Findings: The current state of CVD treatment remains complex. An understanding of genomic concepts and a genome-based approach is necessary to determine: (a) the risk of CVD susceptibility beyond traditional risk factors; (b) early detection of illness; (c) response to treatment; and (d) molecular taxonomy of the disease. Conclusions: The results of genetic research, education, and teaching will lead to a new understanding of genes and pathways, resulting in powerful new therapeutic approaches to CVD. The challenge is to translate genetic discoveries into clinical practice that ultimately leads to preventing CVD and reducing mortality. [source] Canine inhertited retinal degenerations: update on molecular genetic research and its clinical applicationJOURNAL OF SMALL ANIMAL PRACTICE, Issue 10 2002C-T. Lin Inherited retinal degenerations in the dog include generalized progressive retinal atrophy, retinal pigment epithelial dystrophy, congenital stationary night blindness and day blindness (hemeralopia). The clinical phenotype and pathology of these diseases closely resemble some types of human inherited retinal degeneration, in particular retinitis pigmentosa, one of the most common inherited causes of blindness in man. Molecular genetic investigations aim to identify the genetic mutations underlying the canine inherited retinal degenerations. Two major research strategies, candidate gene analysis and linkage analysis, have been used. To date, candidate gene analysis has definitively identified the genetic mutations underlying nine inherited retinal degenerations, each in a different breed of dog, and linkage studies have identified genetic markers for a further retinal degeneration which is found in at least six different breeds. This review outlines the research strategy behind candidate gene and linkage studies and summarises recent results in the search for genetic causes of canine inherited retinal degenerations. The aim is to increase awareness of this rapidly changing field and to show how the research can be used to develop genetic tests for these diseases and thereby reduce the incidence of inherited eye disease in dogs. [source] Drinks of the Father: Father's Maximum Number of Drinks Consumed Predicts Externalizing Disorders, Substance Use, and Substance Use Disorders in Preadolescent and Adolescent OffspringALCOHOLISM, Issue 12 2002Stephen M. Malone Background The maximum number of drinks consumed in 24 hr seems to be an interesting phenotype related to alcoholism. The goal of the present study was to determine in an epidemiologic sample whether this measure of drinking history in fathers predicted externalizing behavioral disorders, substance use, and substance abuse in preadolescent and adolescent offspring and whether any such associations would be independent of paternal alcohol dependence diagnoses. Methods Subjects were male and female twins from both age cohorts of the Minnesota Twin Family Study, a population-based longitudinal study, and were approximately 11 or 17 years of age, respectively, upon study enrollment. In both age cohorts, diagnoses of conduct disorder, oppositional defiant disorder, and attention-deficit/hyperactivity disorder served as outcome measures. In addition, measures of lifetime substance use and of the presence of symptoms of substance abuse were derived for the 11-year-old cohort when subjects were approximately 14 years old and diagnoses of substance abuse were derived for the older cohort at age 17. An extension of logistic regression using generalized estimating equations served to assess whether paternal maximum alcohol consumption predicted filial outcome measures. Results Paternal maximum alcohol consumption was consistently associated with conduct disorder, substance use, and substance abuse or dependence in male and female offspring. These associations were not mediated by a primary effect of paternal alcoholism. Conclusions Paternal maximum alcohol consumption was uniquely associated with those offspring characteristics most reliably found in adolescent children of alcoholic parents. This phenotype might supplement DSM diagnoses of alcohol dependence to reduce the number of false positives in genetic research. [source] Bridging the Gap Between Genomics and EducationMIND, BRAIN, AND EDUCATION, Issue 4 2007Stephen A. Petrill ABSTRACT, Despite several decades of research suggesting the importance of both genetic and environmental factors, these findings are not well integrated into the larger educational literature. Following a discussion of quantitative and molecular genetic methods, this article reviews behavioral genetic findings related to cognitive and academic skills. This literature suggests that (a) the relative importance of genes and environments varies developmentally; (b) genetics, and to a lesser extend the environment, account for a substantial portion of the covariance within and across academic domains; and (c) some forms of disability are qualitatively different from the population, whereas others constitute the lower end of a continuum of ability. Following a discussion of the strengths and limitations of current behavioral genetic research and intervention research, we then discuss the ways in which understanding gene,environment interplay can be used to develop better definitions of learning impairment and better explain the substantial variability in response to intervention. [source] Generalist Genes: Genetic Links Between Brain, Mind, and EducationMIND, BRAIN, AND EDUCATION, Issue 1 2007Robert Plomin ABSTRACT, Genetics contributes importantly to learning abilities and disabilities,not just to reading, the target of most genetic research, but also to mathematics and other academic areas as well. One of the most important recent findings from quantitative genetic research such as twin studies is that the same set of genes is largely responsible for genetic influence across these domains. We call these "generalist genes" to highlight their pervasive influence. In other words, most genes found to be associated with a particular learning ability or disability (such as reading) will also be associated with other learning abilities and disabilities (such as mathematics). Moreover, some generalist genes for learning abilities and disabilities are even more general in their effect, encompassing other cognitive abilities such as memory and spatial ability. When these generalist genes are identified, they will greatly accelerate research on general mechanisms at all levels of analysis from genes to brain to behavior. [source] DNA barcodes for globally threatened marine turtles: a registry approach to documenting biodiversityMOLECULAR ECOLOGY RESOURCES, Issue 2 2010EUGENIA NARO-MACIEL Abstract DNA barcoding is a global initiative that provides a standardized and efficient tool to catalogue and inventory biodiversity, with significant conservation applications. Despite progress across taxonomic realms, globally threatened marine turtles remain underrepresented in this effort. To obtain DNA barcodes of marine turtles, we sequenced a segment of the cytochrome c oxidase subunit I (COI) gene from all seven species in the Atlantic and Pacific Ocean basins (815 bp; n = 80). To further investigate intraspecific variation, we sequenced green turtles (Chelonia mydas) from nine additional Atlantic/Mediterranean nesting areas (n = 164) and from the Eastern Pacific (n = 5). We established character-based DNA barcodes for each species using unique combinations of character states at 76 nucleotide positions. We found that no haplotypes were shared among species and the mean of interspecific variation ranged from 1.68% to 13.0%, and the mean of intraspecific variability was relatively low (0,0.90%). The Eastern Pacific green turtle sequence was identical to an Australian haplotype, suggesting that this marker is not appropriate for identifying these phenotypically distinguishable populations. Analysis of COI revealed a north,south gradient in green turtles of Western Atlantic/Mediterranean nesting areas, supporting a hypothesis of recent dispersal from near equatorial glacial refugia. DNA barcoding of marine turtles is a powerful tool for species identification and wildlife forensics, which also provides complementary data for conservation genetic research. [source] The ethics of reusing archived tissue for researchNEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 5 2000R. Ashcroft Pathologists have been establishing archives of human organs and tissue for research use for many years now. Controversy has arisen recently over these collections, particularly with regard to the right of patients or relatives to consent to removal and retention of tissue, genetic research using stored tissue samples, and commercial exploitation of tissue collections and genetic material. This paper discusses the ethics of reusing existing archives of tissue. New archives are established under much more stringent conditions than in the past. What rules should apply to existing archives? Guidelines to regulate such use are useful, but face serious difficulties in balancing the variety of public and private interests relating to tissue banking. Consent cannot be obtained retrospectively, but public trust can be established by open acknowledgement of the evolution of ethical standards and strict adherence to current best practice. Guidelines and standards vary from country to country, but ethical principles should not. The implications of this view for pathologists worldwide are discussed. [source] Perspectives: molecular genetic research in human obesityOBESITY REVIEWS, Issue 3 2003J. Hebebrand Summary Within the past decade the molecular basis of single forms of monogenic obesity has been elucidated. With the exception of functionally relevant mutations in the melanocortin-4 receptor gene, which occur in approximately 2,4% of extremely obese individuals, all other currently known monogenic forms are rare and additionally associated with distinct endocrinological abnormalities. A large number of association studies have been performed in ,normal' obesity. Whereas many associations have been reported, it is largely unclear which of these represent true positive findings. Over 20 genome scans pertaining to obesity and related phenotypes have been performed; specific chromosomal peak regions have been identified in different scans. We review the current status and discuss relevant issues related to phenotyping, association and linkage studies. We recommend that the procedure via which a consensus is reached as to what constitutes a true positive association finding requires formalization. [source] | ||||||||||||||||||||||||||||||||||