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Human Genetics: From Molecules to Medicine provides balanced coverage of molecular and clinical genetics for the preclinical medical student with relevant examples of the application of basic science to clinical medicine. With its unique, systems-based approach ideal for integrated curricula, the text guides students through their genetics, pediatrics, and medicine rotations and will also be helpful as a pocket resource for residents in pediatrics, internal medicine, family medicine, and obstetrics. Content has been carefully adapted from the critically acclaimed German text for the English language audience.
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"CHARGE syndrome occurs in approximately 1:10,000-15,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have communication-related problems, including hearing, vision, balance, breathing, swallowing, and speech"--
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The birthplace of modern humans, Africa, has the highest genetic diversity in the world, yet it remains vastly understudied. With biomedical research increasingly focused on human variation, studying the large population size and number of mutations in African genomes could unravel the complexity of phenotypic traits underlying the biology of our species and hold huge potential for scientific and medical advances. An initial chapter 'conceptualizes Africa', providing relevant terminology. The first section covers genetic history and population structure. The next section looks at the genetic basis of common infectious diseases, such as leishmaniasis, malaria and tuberculosis, with a final part considering common non-communicable diseases, such as diabetes, hypertension, obesity, heart disease and cancer. Gene environment interaction under globalization and the burden of diseases of lifestyle are included. For researchers and graduate students in biological anthropology, genetic anthropology, human and population genetics, and public health.
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The book by Susanne Bauer presents an in-depth analysis of cell type-specific translatome in mouse models of three genetic diseases. It delves into the effects of diseases on different brain cells, providing valuable insights into the early molecular mechanisms of diseases such as genetic disease, fatal familial insomnia, and Huntington's disease. The book emphasizes the importance of early intervention, given that degenerative changes in the brain can begin years before symptoms appear. The author's goal is to contribute to a comprehensive understanding of the affected cells during the pre-symptomatic phase, which is crucial for effective and targeted intervention. The intended audience includes medical researchers, neuroscientists, and health science students.
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The prenatal screening technologies are there and will be refined and used. However, prospective parents should be given a broad picture, including information from families with similarly impaired children and from disabled adults, and then be supported in their own choice. Different parents will then make different choices. Dóra S. Bjarnason, in "Is life worth living if you have a disability?" "The best way to have talented children is still to choose a talented spouse. Parents usually only wish that their children are healthy. And if they are not, they accept them anyway." Outi Hovatta, in "The new reproductive biology - medical and technical possibilities vs. ethical and legal concerns" "In the future, stem cell lines may be created from an HLA-identical embryo as identified by PGD. This would be an alternative for parents with a sick child without taking any risks associated with the creative of a potential donor child, and it may work much faster and thus increase the chance of benefit to the sick child" Gisela Dahlquist, in "The child's perspective and the parents' - who should decide?" "There seems to be a common perception about which foetal or embryo condition could justify selection. The regulation will point at severe disorders, however, without indicating specifically which disorders could be considered sufficiently severe." Mette Hartlev, in "Legislation and regulations in the Nordic countries. Is there a Nordic dimension?" "Personally I hold the view that well-founded doubt about the rightness of our moral deliberations, practices and visions is always better than unjustified confidence and conviction, even when we strive to decipher the moral status of unborn babies and supernumerary fertilised eggs. Consequently, I feel it is justified to remain in doubt about the exact nature of their moral status." Jan Helge Solbakk, in "On the moral status of unborn babies and supernumerary fertilised eggs" "In developing countries, particularly in an Islamic context where there is a high premium placed on couples having at least one male offspring, the availability of pgd for non-medical reasons does have a positive effect." Zaid Kilani, in "Preimplantation Genetic Diagnosis for Elective Sex Selection: Individual Needs in Developing Countries, Financial, Social, Cultural and Religious Aspects".
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Cet écrit est une réflexion transversale, philosophique, éthique et humaniste pour mieux comprendre et accompagner des personnes touchées par une maladie rare génétique. Les maladies rares sont d'identification récente, d'une fréquence inférieure à 1/2000. Elles sont multiples (plus de 7000), le plus souvent génétiques (80%) et touchent plus de 2 millions de personnes en France. Le diagnostic de ces maladies conduit à une errance médicale parfois longue et invite à une médecine de l'incertitude. La rareté conduit à développer un soin par tâtonnements, qui fait toute la place à l'accompagnement de l'adaptabilité que le malade doit déployer quelle que soit l'évolution de la maladie. Les collectifs de patients jouent une place très spécifique qui favorise la reconnaissance du patient et un partage du savoir avec ses pairs et le corps médical. L'auteur analyse le « travail » accompli par le malade pour ne pas être « réduit » à son diagnostic et pour lui permettre à terme de transformer le destin de Sa maladie génétique en Sa destinée par sa manière de le vivre pour se maintenir en vie. L'enjeu de cet ouvrage est de contribuer à développer les compétences des soignants pour soutenir le malade à vivre l'évènement de sa maladie comme sujet.
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Ataxia. --- Ataxia --- Genetic disorders.
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