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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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With the completion of human genome sequencing, human genetics is poised for major developments in functional genomics, molecular diagnostics, pathogenesis of complex multifactorial diseases and gene-based therapy. This book includes manuscripts from an international symposium on human genetics and gene therapy as well as articles written by a selection of young researchers in the Asia Pacific region who are actively involved in a diverse range of medical problems, including cancers, infections, hypertension and myopia. New technologies being developed in gene therapy, lab-on-chips and bioinfo

Human genetics --- Gene therapy

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Das Wort "Gen" wurde 1909 geprägt. Im Rahmen des hierauf aufbauenden Forschungszweigs der Genetik wurden in den letzten 100 Jahren zahlreiche Kenntnisse über Struktur und Funktion von Desoxyribonukleinsäure (DNA) gewonnen. Insbesondere rückte durch die Entschlüsselung des menschlichen Genoms innerhalb des Humangenomprojektes und durch hiermit in Zusammenhang stehende Begleit- und Folgeprojekte in den vergangenen Jahren verstärkt die Bedeutung genetischer Faktoren für individuelle Charakteristika des Menschen und bei der Entstehung von Krankheiten ins Bewusstsein. Über diese medizinisch-naturwissenschaftlichen Bereiche hinausgehend besitzt heute die in einem recht allgemeinen Sinne verstandene "genetische Information" zudem vielfältige Auswirkungen auf unser Selbstverständnis und Zusammenleben. Im Rahmen des vorliegenden Sammelbandes wird der Frage nach der Bedeutung genetischer Information sowohl in biologisch-medizinischer Hinsicht als auch für die betreffenden Personen und ihre komplexen Lebenszusammenhänge nachgegangen. Namhafte Vertreterinnen und Vertreter der Medizin, Biologie, Ethik, Philosophie, Rechtswissenschaften und anderer Fachgebiete thematisieren hierbei grundlegende Fragen des Status genetischer Information und der Bedeutung genetischer Faktoren im Vergleich zu nicht-genetischen Faktoren sowie Überlegungen über die individuellen und gesellschaftlichen Implikationen des Umgangs mit genetischer Information. What is meant by genetic information? How can knowledge about the genetic information of a person be responsibly handled?An interdisciplinary symposium at Tübingen University tackled this whole complex of issues. There are contributions on the various aspects from specialists in biology, medicine, ethics and law.

Genetic engineering. --- Human genetics.

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In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor's office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the int

Genetics --- Human genetics --- Human genetics. --- Medical genetics. --- Human genome. --- Genetics.