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Genomics of Rare Diseases
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and p...
Accelerating access to genomics for global health
This publication presents the recommendations of the WHO Science Council to the Director-General on accelerating access to genomics for global health. A series of workshops was held in 2021 to gather information and perspectives on this topic. Fifteen actions are recommended to achieve the goal of accelerating access to genomics for global health.
Frontiers in Public Health: Editor’s pick 2022-23
Welcome to our Editor’s Pick collection for Frontiers in Public Health, showcasing a curated selection of the most impactful and innovative articles in the field. These articles were specially hand-picked by our Field Chief Editor, Professor Paolo Vineis, of Imperial College London. This compilation highlights the breadth and depth of contemporary public health research, featuring studies that address pressing global health challenges and propose practical solutions. We have categorized the selected articles into 8 categories for ease of readership: Aging and Chronic Diseases; Child and Maternal Health; Environmental Health and Climate Change; Infectious Diseases; Implementation Science an...
The Biologist's Imagination
"Scholars and policymakers alike agree that innovation in the biosciences is key to future growth. The field continues to shift and expand, and it is certainly changing the way people live their lives in a variety of ways. But despite the lion's share offederal research dollars being devoted to innovation in the biosciences, the field has yet to live up to its billing as a source of economic productivity and growth. With vast untapped potential to imagine and innovate in the biosciences, adaptation of the innovative model is needed. In The Biologist's Imagination, William Hoffman and Leo Furcht examine the history of innovation in the biosciences, tracing technological innovation from the la...
Canine Diseases
Dogs perform many roles for people, such as hunting, herding, pulling loads, protection, assisting police and military, companionship and aiding handicapped individuals. This influence on human society has given them the sobriquet, "man's best friend".The goal of veterinary medicine may be quite different in pets than in farm animals. In the former, situation is a bit like in human beings, and more and more complex operations are being performed, with sophisticated anesthesia techniques. In the latter, the cost of the surgical operation must not exceed the economic benefit in treating the illness.There is a possibility that during pet's lifetime, surgery may be recommended to treat a medical...
Introduction to Genomics
The most up-to-date and complete textbook for first time genomics students, Introduction to Genomics offers a fascinating insight into how organisms differ or match; how different organisms evolved; how the genome is constructed and how it operates; and what our understanding of genomics means in terms of our future health and wellbeing. -This fully updated and restructured new edition, which includes two new chapters, takes account of new developments and technologies, presenting a logical and coherent overview of genome science today. -The author's widely-praised writing style leads the reader through a conceptually challenging subject in a clear, lucid way, building confidence in, and enthusiasm for, the subject at the outset. -Broad and fascinating range of 'real world' examples, which are also relevant across genet.
Inborn errors of Carbohydrate Metabolism
Inborn errors of carbohydrate metabolism are a heterogeneous subgroup of inborn errors that are caused by mutations in human genes coding for proteins involved in carbohydrate catabolic and anabolic pathways. Through the breakdown of sugars, carbohydrate catabolism allows a constant supply of energy (e.g. glycolysis), but also involves the breakdown of the cell’s complex oligosaccharides (e.g. lysosomal degradation of surface glycoconjugates) allowing the recycling of monosaccharides. On the other hand, anabolism of carbohydrates (e.g. gluconeogenesis) is required to supply newly synthesized sugars to catabolic pathways, also allowing interconversion of sugars and sustaining the synthetic pathways of complex carbohydrate structures such as glycosaminoglycans and glycans that are the carbohydrate moiety of glycoconjugates involved in multiple biological functions.
