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This book provides a concise yet comprehensive source of current information on Down syndrome. It focuses on exciting areas of research on diseases associated with Down syndrome. Inside, you will find state-of-the-art information on diseases associated with Down syndrome; improvement of cognitive skills in Down syndrome; and research approaches on Down syndrome. Although aimed primarily at research workers on Down syndrome, we hope that the appeal of this book extends beyond the narrow confines of academic interest and reaches a wider audience, especially parents, relatives, and health care providers who work with infants and children with Down syndrome.

Down syndrome. --- 21 trisomy --- Down's syndrome --- Mongolism --- Mongolism (Disease) --- Trisomy 21 --- Human chromosome abnormalities --- Intellectual disability --- Syndromes --- Human chromosome 21 --- Medical genetics

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"The science and technology of genetic testing is rapidly advancing with the consequences that genetic testing may well offer the prospect of being able to detect the onset of future disabilities. Some recent research also indicates that certain behavioural profiles may have a strong genetic basis, such as the determination to succeed and win or the propensity for risk-taking, which may be of interest to third parties. However, as this technology becomes more prevalent there is a danger that the genetic information may be misused by entities such as employers, insurance companies, educational facilities, and finance companies and that people with particular genetic profiles may be discriminated against.This book explores the different types and the potential uses of genetic testing. The book highlights the ethical and legal dilemmas and the challenges arising as a result of emerging and rapidly advancing genetic science. Chapters in the book assess the importance and impact of the US Genetic Information Non-Discrimination Act (GINA) in the employment and health insurance contexts asking whether it is proving to be an effective tool in addressing the issue of genetic discrimination and alleviating individuals' fears of discrimination. The book then goes on to make the case for regulation at the European Union level in order to protect the privacy of genetic information and to prevent the discriminatory use of genetic information in Europe. It considers what can be learnt from the experience of the US in addressing ethical and legal issues as well as the impact that the UN Convention on the Rights of Persons with Disabilities is having on this debate within the EU"-- "As genetic technologies advance, genetic testing may well offer the prospect of detecting the onset of future disabilities. Some research also forwards that certain behavioural profiles may have a strong genetic basis, such as the determination to succeed, or the propensity for risk-taking. As this technology becomes more prevalent there is a danger that genetic information may be misused by third parties, and that particular genetic profiles may be discriminated against by employers, insurance companies, and educational facilities. This book explores the different forms and potential uses of genetic testing. Drawing together leading experts in disability law, bioethics and genetic discrimination, it highlights the ethical and legal challenges arising as a result of emerging and rapidly advancing genetic science. Chapters in the book ask whether the US Genetic Information Non-Discrimination Act (GINA) is proving to be an effective tool in addressing the issue of genetic discrimination and is alleviating fears of discrimination. The book also reviews what may be learnt from GINA within employment and health insurance contexts, and asks how the UN Convention on the Rights of Persons with Disabilities (CRPD) may impact similar debates within the European Union. This book will be of great interest to scholars and students of discrimination law, bioethics, and disability law, and will be of considerable use to medical practitioners and policy makers in this area"--

Genetic screening --- Discrimination in employment --- Discrimination in insurance --- Human chromosome abnormalities --- Law and legislation --- Diagnosis --- United States. --- Convention on the Rights of Persons with Disabilities and Optional Protocol

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Genetic Diseases, Inborn --- Genetic Testing --- Genetics, Medical --- Genetic disorders --- Human chromosome abnormalities --- Medical genetics --- Maladies héréditaires --- Chromosomes humains --- Génétique médicale --- methods --- Diagnosis. --- Case studies --- Anomalies --- Diagnostic --- Études de cas --- Maladies héréditaires --- Génétique médicale --- Études de cas --- Genetic Diseases, Inborn. --- Genetic Testing. --- methods. --- Molecular biology --- Human genetics

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Over the past 15 years, a series of empirical studies in different countries have shown that our increasing genetic knowledge leads to new forms of exclusion, disadvantaging and stigmatization. The spectrum of this "genetic discrimination" ranges from disadvantages at work, via problems with insurance policies, to difficulties with adoption agencies. The empirical studies on the problem of genetic discrimination have not gone unnoticed. Since the beginning of the 1990s, a series of legislative initiatives and statements, both on...

Professional ethics. Deontology --- Human rights --- Medical law --- Discrimination --- Genetic screening --- Human genetics --- #SBIB:17H11 --- #SBIB:316.334.3M11 --- #SBIB:316.334.3M13 --- #SBIB:316.334.3M20 --- #SBIB:316.334.3M51 --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Human chromosome abnormalities --- Medical screening --- Bias --- Interpersonal relations --- Minorities --- Toleration --- Moral and ethical aspects --- Social aspects --- Menselijke natuur en morele voorschriften --- Medische sociologie: concepten en theorieën --- Medische sociologie: aanverwante disciplines --- Sociale epidemiologie en etiologie: sociale aspecten van ziekte en gezondheid --- Organisatie van de gezondheidszorg: modellen van therapeutisch handelen --- Diagnosis

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Traditionally, medical research comprised of the identification of the pathological causes of a disease, its epidemiology and empirical investigation of treatment response. Intensive genetic research, marked by the completion of the human genome project in 2003, heralded a new era in medical research. While epidemiology and gross pathology are still mainstay useful tools, genetics and genomics have gradually been shown to increase the resolution of drug response research, showing great potential in also informing and identifying the role of genes and their encoded products in the pathophysiology of diseases. This information is already being applied in the prevention of illness, effective early diagnosis, better risk assessment (prognosis), as well as targeted effective and safe treatment allocation (prediction and monitoring). Genetic testing and genomics support personalised medicine by translating genome-based knowledge into clinical practice, offering enhanced benefit for patients and health-care systems at large. Current routine practice for diagnosing and treating patients is conducted by correlating parameters such as age, gender and weight with risks and expected treatment outcomes. In the new era of personalised medicine the healthcare provider is equipped with improved ability to prevent, diagnose, treat and predict outcomes on the basis of complex information sources, including genetic and genomic data. Targeted therapy and reliable prediction of expected outcomes offer patients access to better healthcare management, by way of identifying the therapies effective for the relevant patient group, avoiding prescription of unnecessary treatment and reducing the likelihood of developing adverse drug reactions.

Biomedicine. --- Molecular Medicine. --- Medical Education. --- Systems Biology. --- Human Genetics. --- Pharmacology/Toxicology. --- Drug Resistance. --- Medicine. --- Human genetics. --- Drug interactions. --- Toxicology. --- Biological models. --- Médecine --- Génétique humaine --- Médicaments --- Toxicologie --- Modèles biologiques --- Interaction --- Biology --- Health & Biological Sciences --- Biophysics --- Pharmacogenetics. --- Genetic screening. --- Personalized medicine. --- Individualized medicine --- Pharmacology --- Genetic aspects --- Drug resistance. --- Molecular biology. --- Pharmacology. --- Systems biology. --- Medical education. --- Medical care --- Pharmacogenetics --- Human chromosome abnormalities --- Medical screening --- Biochemical genetics --- Diagnosis --- Interactions, Drug --- Drugs --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Chemicals --- Medicine --- Poisoning --- Poisons --- Genetics --- Heredity, Human --- Physical anthropology --- Models, Biological --- Medical personnel --- Professional education --- Side effects --- Toxicology --- Education --- Health Workforce --- Resistance to drugs --- Drug effects --- Medical pharmacology --- Chemotherapy --- Pharmacy --- Computational biology --- Bioinformatics --- Biological systems --- Molecular biology --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biomolecules --- Systems biology --- Physiological effect --- Bioinformatics. --- Medical genetics. --- Medical microbiology. --- Biomedical Research. --- Computational and Systems Biology. --- Medical Genetics. --- Medical Microbiology. --- Research. --- Bio-informatics --- Biological informatics --- Information science --- Biological research --- Biomedical research --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Genetic disorders --- Data processing