Our Human Variability - A Conversation with Stephen Scherer

This book is based on an in-depth conversation between Howard Burton and Stephen Scherer, the GlaxoSmithKline Research Chair in Genome Sciences at the Hospital for Sick Children and University of Toronto. Stephen Scherer discusses his lifelong passion for science that culminated in his groundbreaking discovery of copy-number variation. This conversation also covers his exciting work in autism research and how copy number variation brings us a deeper understanding of both human variability and disease.This carefully-edited book includes an introduction, More Things in DNA, Horatio..., and questions for discussion at the end of each chapter:I. James Watson’s Legacy - From The Double Helix to NRC to chromosome 7II. In the Lab - The first hints of copy number variationIII. Chromosome 7 - Mapping genetic markers to chromosomesIV. Back to Basics - Nucleotides, DNA, chromosomes, genes and mutationsV. Revolutionary Stirrings - Detecting copy number variationVI. Going Global - Large-scale variation for allVII. Variability and Evolution - Appreciating biological variabilityVIII. Causes and Implications - Complexity galore: autism and other conditionsIX. Towards Treatment - Early diagnoses and equilibrium-restoring medicinesX. The Definition of Diseases - More complicated that you might thinkXI. Probing Deeper - Stem cells, pleiotropy and environmental factorsXII. Ethical and Societal Issues - Towards responsible progressXIII. Future Possibilities - Potentially unravelling biological complexityXIV. Contact with Autism - Serendipitous occurrencesXV. Nobel Thoughts - The perks and perils of prizesXVI. The Human Condition - Genetic windows on humanityAbout Ideas Roadshow Conversations Series: Presented in an accessible, conversational format, Ideas Roadshow books not only explore frontline academic research featuring world-leading researchers but also reveal the inspirations and personal journeys behind the research.