Medicine in the Genomic Era

Lecture 1 – Sizing up the Brain Gene by Gene

by Christopher Walsh, MD, PhD

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  1.  1.  Start of Lecture One
  2.  2.  Profile of Dr. Christopher Walsh
  3.  3.  Completion of the human genome is revolutionary for medicine
  4.  4.  Some genes that control brain development are also affected by cancer
  5.  5.  New technology has made sequencing fast and inexpensive
  6.  6.  Introduction to brain structure and function
  7.  7.  Video: Cutting-edge microscopy for brain imaging
  8.  8.  Brain development is complex and requires many genes
  9.  9.  MRI allows structural analysis of living brains
  10. 10.  Examples of structural brain disorders
  11. 11.  Introduction to hemimegalencephaly
  12. 12.  Video: Meet Dante—a young boy with hemimegalencephaly
  13. 13.  Possible causes of hemimegalencephaly
  14. 14.  Investigating the genetics of hemimegalencephaly
  15. 15.  Genetic evidence from other patients with hemimegalencephaly
  16. 16.  Mutations in AKT3 gene correlate with brain size disorders
  17. 17.  Mosaic mutations can be seen in some tissues but not others
  18. 18.  Somatic AKT3 mutation causes abnormal brain development
  19. 19.  Q&A: How does a mutation affect one side of the brain?
  20. 20.  Q&A: Is hemimegalencephaly associated with cancer?
  21. 21.  Q&A: Does Dante have other symptoms from his hemispherectomy?
  22. 22.  Q&A: Is hemimegalencephaly heritable?
  23. 23.  Q&A: What are the ethical considerations of a hemispherectomy?
  24. 24.  Q&A: Can protein therapy inhibit AKT3 mutations?
  25. 25.  Introduction to microcephaly
  26. 26.  Microcephaly is usually an inherited recessive disorder
  27. 27.  Using genetic markers to find microcephaly genes
  28. 28.  New technology accelerated the search for microcephaly genes
  29. 29.  Mutations in a gene called WDR62 are a cause of microcephaly
  30. 30.  WDR62 is associated with the mitotic spindle
  31. 31.  Other microcephaly genes are associated with the mitotic spindle
  32. 32.  Animation: Development of the cerebral cortex
  33. 33.  Orientation of the mitotic spindle affects cerebral development
  34. 34.  Microcephaly mutations change the orientation of the mitotic spindle
  35. 35.  Microcephaly genes provide insight on brain size evolution
  36. 36.  Q&A: What regulates skull size?
  37. 37.  Q&A: Can microcephaly result from a somatic mutation?
  38. 38.  Q&A: Do brain size and structure or the genome influence intelligence?
  39. 39.  Credits
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