Stephen Scherer

Our Human Variability is a comprehensive book 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:

  1. James Watson’s Legacy – From The Double Helix to NRC to chromosome 7
  2. In the Lab – The first hints of copy number variation
  3. Chromosome 7 – Mapping genetic markers to chromosomes
  4. Back to Basics – Nucleotides, DNA, chromosomes, genes and mutations
  5. Revolutionary Stirrings – Detecting copy number variation
  6. Going Global – Large-scale variation for all
  7. Variability and Evolution – Appreciating biological variability
  8. Causes and Implications – Complexity galore: autism and other conditions
  9. Towards Treatment – Early diagnoses and equilibrium-restoring medicines
  10. The Definition of Diseases – More complicated that you might think
  11. Probing Deeper – Stem cells, pleiotropy and environmental factors
  12. Ethical and Societal Issues – Towards responsible progress
  13. Future Possibilities – Potentially unravelling biological complexity
  14. Contact with Autism – Serendipitous occurrences
  15. Nobel Thoughts – The perks and perils of prizes
  16. The Human Condition – Genetic windows on humanity

Now available on:

This book is also available as part of the Ideas Roadshow Collection called Conversations on Biology.

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We’ve produced two videos of our extensive conversation with Stephen Scherer which are available on Vimeo On Demand: Our Human Variability , Part I and Our Human Variability, Part II.