Our human variability

This book is based on an in-depth filmed 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: This book is part of an expanding series of 100+ Ideas Roadshow conversations, each one presenting a wealth of candid insights from a leading expert through a focused yet informal setting to give non-specialists a uniquely accessible window into frontline research and scholarship that wouldn't otherwise be encountered through standard lectures and textbooks. For other books in this series visit our website (https://ideas-on-film.com/ideasroadshow/).