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Genetic Destinies opens with the stories of the lives of two women. Genetic science enables the life of one to be free of suffering but fills that of the other with discrimination and oppression. The two imaginary future lives encompass the very best and the very worst of our hopes for gene science. Understanding what is reality and what is myth, what is possible and what impossible, is the key to unlocking the reality of this feared science.In the chapters that follow, the reality of the power of gene science is laid out using non-technical terms, exploring the role genes play in rigidly defining the overall plan of our bodies and then subtly influencing our individuality, intelligence, behaviour, personality and health. Genes are often minor players in our lives because the differences that distinguish us are tiny compared to the similarities we share; it follows that our futures are in our own hands as much as in the hands of our genes.

Human genetics

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Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The implementation of short-read sequencing methodologies in increasingly large patient cohorts has rapidly expanded our knowledge of the complex genetic architecture of the disease. We aim to convey the broad history of ALS gene discovery as context for a focused review of 11 ALS gene associations reported over the last 5 years. We also summarize the current level of genetic evidence for all previously reported genes. Recent Findings: The history of ALS gene discovery has occurred in at least four identifiable phases, each powered by different technologies and scale of investigation. The most recent epoch, benefitting from population-scale genome data, large international consortia, and low-cost sequencing, has yielded 11 new gene associations. We summarize the current level of genetic evidence supporting these ALS genes, highlighting any genotype-phenotype or genotype-pathology correlations, and discussing preliminary understanding of molecular pathogenesis. This era has also raised uncertainty around prior ALS-associated genes and clarified the role of others. Summary: Our understanding of the genetic underpinning of ALS has expanded rapidly over the last 25 years and has led directly to the clinical application of molecularly driven therapies. Ongoing sequencing efforts in ALS will identify new causative and risk factor genes while clarifying the status of genes reported in prior eras of research.

Human genetics.

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Sommes-nous gouvernés par nos gènes ? Pouvons-nous espérer d’une thérapie génétique la fin de tous nos maux ? Devons-nous craindre des manipulations génétiques une dénaturation des êtres vivants qui nous plongerait dans l’aventure ? Comment poser ces questions si, lorsqu’il sera déchiffré, le génome humain doit rester inintelligible, suite de caractères dont on ne voit guère la signification ? Qu’est-ce qui est le plus important pour réussir un gâteau : le moule ou la cuisson ? Qu’est-ce qui est le plus important pour comprendre la vie : les gènes ou les protéines ?

genetica (genen) --- génétique (gènes) --- Human genetics --- Human genetics - Popular works

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Tweeling --- Jumeaux --- Human genetics --- Developmental psychology --- Paediatrics

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Medical genetics --- Human genetics --- Genetics, Medical