1st Edition

The Human Genome in Health and Disease A Story of Four Letters

By Tore Samuelsson Copyright 2019
    297 Pages 234 Color Illustrations
    by Garland Science

    297 Pages 234 Color Illustrations
    by Garland Science

    297 Pages 234 Color Illustrations
    by Garland Science

    The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders.

    The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome.


    Key selling features:

    • Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function
    • Aids in understanding the functional impact of mutations and genetic variants
    • Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology
    • Richly illustrated with questions provided to each chapter

    Chapter 1. Introduction

    Chapter 2. A molecular disorder

    Chapter 3. A code of life

    Chapter 4. The genome

    Chapter 5. Variants in the human genome sequence and their biological significance

    Chapter 6. The critical protein coding sequences

    Chapter 7. Triplet repeats and neurodegenerative disorders

    Chapter 8. The untranslated parts of a message

    Chapter 9. Exons, introns and a royal bleeding disorder

    Chapter 10. The regulation of transcription

    Chapter 11. The non-coding RNAs

    Chapter 12. Computational methods are critical in the analysis of molecular sequences

    Chapter 13. Diagnosing the genome

    Chapter 14. Correcting genome errors

    Chapter 15. Epilogue


    Tore Samuelsson

    "... an excellent primer on the molecular and biochemical underpinnings of disease. The author walks us through how the genome is structured and regulated, interspaced with detailed explanations of how changes in the genome result in biological function and human disease. He includes personal touches that help humanize the material..." - The Quarterly Review of Biology, 95(2).

    "Although the material is appropriate for advanced biology students, this volume would also be suitable for those with limited knowledge of biology due to the detailed and careful walkthrough of the topic matter that makes it approachable for nonspecialists, especially for fledgling computational biologists or clinical geneticists, and even for nonacademics who wish to better understand their own genome." - William Gillis, Biological Sciences, State University of New York College at Old Westbury