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:

• James Watson’s Legacy - From The Double Helix to NRC to chromosome 7


• In the Lab - The first hints of copy number variation


• Chromosome 7 - Mapping genetic markers to chromosomes


• Back to Basics - Nucleotides, DNA, chromosomes, genes and mutations


• Revolutionary Stirrings - Detecting copy number variation


• Going Global - Large-scale variation for all


• Variability and Evolution - Appreciating biological variability


• Causes and Implications - Complexity galore: autism and other conditions


• Towards Treatment - Early diagnoses and equilibrium-restoring medicines


• The Definition of Diseases - More complicated that you might think


• Probing Deeper - Stem cells, pleiotropy and environmental factors


• Ethical and Societal Issues - Towards responsible progress


• Future Possibilities - Potentially unravelling biological complexity


• Contact with Autism - Serendipitous occurrences


• Nobel Thoughts - The perks and perils of prizes


• The Human Condition - Genetic windows on humanity

About Ideas Roadshow Conversations Series (100 books):

Presented in an accessible, conversational format, Ideas Roadshow books not only explore frontline academic research featuring world-leading researchers, including 3 Nobel Laureates, but also reveal the inspirations and personal journeys behind the research. Howard Burton holds a PhD in physics and an MA in philosophy, and was the Founding Director of Canada’s Perimeter Institute for Theoretical Physics.