Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility

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