Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility
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Overview
An Up-to-Date Assessment of Recent Advances in Human Genetics, Human Variation,and Gene-Related Disease
In Investigating the Human Genome, leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role.
Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome. She addresses diverse topics associated with human genetics and genomics, ranging from psychiatric and late-onset illness to early human history.
Coverage includes
• Genetic research on human origins, migrations, and population diversity
• Genome architecture and sequence variation in health and disease
• Genes, transcripts, and regulation at multiple levels
• Modifications via epigenetics and epigenomics
• Phenotypes, phenocopies, pathways, and interactions
• Key issues of protein misfolding
• Gene-environment interactions in DNA damage, instability, and repair
• Synaptic activity and plasticity, and relevance to cognitive impairment and behavioral abnormalities
• Micro RNAs and mRNA translation
• Late-onset neurodegenerative diseases: Alzheimer’s, ALS, and Parkinson’s
• Genes, cancer, signaling pathways, and targeted therapies
• Functional genomics and personalized medicine
Synopsis
Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome.
This book addresses into a wide spectrum of topics associated with human genetics and genomics, including:
Human origins; migrations and human population diversity gained though genomic analyses. The complexities of psychiatric diseases that are influenced by genetics. The pathogenesis of late-onset neurological diseases such as Alzheimer's, Parkinsonism, and ALS. Key aspects of protein misfolding. Gene-environment interactions in DNA damage and repair and DNA instability. Micro RNAs and mRNA translation. Epigenetics. New functions for old enzymes in cancer.Editorials
Publishers Weekly
Primarily written to update professionals already grounded in the subject, this brief review of cutting-edge research in the field of genetics and genomics provides everything from a broad overview of structural variations in the DNA sequence to specifics about diseases such as Alzheimer's. Dr. Smith (Translational Research in Genetics and Genomics), a professor of pediatrics and human genetics at the University of California-Irvine's School of Medicine, suggests that genomics will play an increasingly important role in clinical practice, by allowing physicians to adjust care according to a patient's individual genome, rather than relying solely upon family history or other information. This would be especially useful in cases of brain disease where tissue samples are not readily available. Personal genomic information can also help predict a patient's sensitivity to certain pharmaceuticals. Not only is knowledge about the human genome already playing a part in the development of new cures, it can be relevant, Smith writes, in predicting the course of a degenerative disease in order to better manage a patient's care. While the book may not be pitched for the average reader, one would certainly hope that this information is widely circulated among physicians and medical researchers.(c) Copyright PWxyz, LLC. All rights reserved.