Medicine in the Genomic Era

Lecture 3 – Decoding the Autism Puzzle

by Christopher Walsh, MD, PhD

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  1.  1.  Start of Lecture Three
  2.  2.  Video: The search for genetic mutations that cause autism
  3.  3.  Examples of functional brain disorders
  4.  4.  Autism is both a behavioral and a social disorder
  5.  5.  Autism is part of a spectrum of related disorders called ASD
  6.  6.  Possible causes of autism
  7.  7.  There is no evidence that vaccines increase risk of autism
  8.  8.  Studies of identical twins show genetic component of ASD
  9.  9.  Genetic disorders may be recessive, dominant, or multigenic
  10. 10.  Not all genetic traits are inherited
  11. 11.  Improved understanding of ASD has been driven by technology
  12. 12.  Copy-number variations (CNVs) are an important cause of disease
  13. 13.  Microarrays enable genome-wide screening for CNVs
  14. 14.  Autistic children have an excess of de novo CNVs
  15. 15.  CNV screening can clinically diagnosis autism in 7% of cases
  16. 16.  Exome sequencing enables screening for point mutations
  17. 17.  Point mutations can affect protein structure and function
  18. 18.  Autistic children have an excess of nonsense point mutations
  19. 19.  Q&A: Why did the DSM5 change autism diagnosis criteria?
  20. 20.  Q&A: Does autism fit within the nature-versus-nurture debate?
  21. 21.  Q&A: Do people with autism have special abilities?
  22. 22.  Q&A: Are de novo mutations only inherited maternally?
  23. 23.  Q&A: Are CNV tests used to diagnose autism?
  24. 24.  Q&A: Can pinpointing the cause of autism inform treatment
  25. 25.  Assays of de novo point mutations are not diagnostic for ASD
  26. 26.  Large genome studies help determine autism candidate genes
  27. 27.  Despite advances, many ASD cases remain unexplained
  28. 28.  Heritability of ASD may be explained by recessive mutations
  29. 29.  Animation: Autism and the structure and function of synapses
  30. 30.  Mutations in ASD genes can change the shape of synapses
  31. 31.  Genomics has caused a cultural change in how ASD is understood
  32. 32.  Mutations that cause autism can cause other diseases as well
  33. 33.  Other genetic explanations for autism
  34. 34.  Understanding cellular mechanisms can lead to autism treatments
  35. 35.  Q&A: Could localized mosaic mutations lead to autism?
  36. 36.  Q&A: Do patients with autism ever get worse over time?
  37. 37.  Q&A: In autistic neuronal communication, are signals different or slow?
  38. 38.  Q&A: Are the severity of mutations and severity of autism associated?
  39. 39.  Q&A: How can identical twins be discordant for autism?
  40. 40.  Q&A: Can autism be a result of epigenetics?
  41. 41.  Q&A: Will advancements in neurosciences alter human science?
  42. 42.  Q&A: Will a quest to enhance ourselves lead to problems?
  43. 43.  Q&A: Why is autism more common in males?
  44. 44.  Q&A: Is there a critical age for learning?
  45. 45.  Credits


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