Our Human Variability: A Conversation with Stephen Scherer

okt 2020 · Open Agenda Publishing

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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 7

II. In the Lab - The first hints of copy number variation

III. Chromosome 7 - Mapping genetic markers to chromosomes

IV. Back to Basics - Nucleotides, DNA, chromosomes, genes and mutations

V. Revolutionary Stirrings - Detecting copy number variation

VI. Going Global - Large-scale variation for all

VII. Variability and Evolution - Appreciating biological variability

VIII. Causes and Implications - Complexity galore: autism and other conditions

IX. Towards Treatment - Early diagnoses and equilibrium-restoring medicines

X. The Definition of Diseases - More complicated that you might think

XI. Probing Deeper - Stem cells, pleiotropy and environmental factors

XII. Ethical and Societal Issues - Towards responsible progress

XIII. Future Possibilities - Potentially unravelling biological complexity

XIV. Contact with Autism - Serendipitous occurrences

XV. Nobel Thoughts - The perks and perils of prizes

XVI. The Human Condition - Genetic windows on humanity

About Ideas Roadshow Conversations: Presented in an accessible, conversational format, Ideas Roadshow books not only explore frontline academic research but also reveal the inspirations and personal journeys behind the research.

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