Learning from Patients: The Science of Medicine

Lecture 4 – The Strength of Families: Solving Rett Syndrome

by Huda Zoghbi, MD

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  1.  1.  Start of Lecture 4
  2.  2.  Introduction by Grants Program Director Dr. Dennis Liu
  3.  3.  Introductory interview with Dr. Huda Zoghbi
  4.  4.  Rett syndrome introduction
  5.  5.  Video: Normal child development
  6.  6.  General description of Rett syndrome
  7.  7.  Video: Julia Roberts describes Rett syndrome
  8.  8.  Rett syndrome is typically rare and sporadic
  9.  9.  Rare cases of families with inherited Rett syndrome
  10. 10.  Video: Woodcock family's story
  11. 11.  Four family pedigrees shed light on the pattern of inheritance
  12. 12.  X-chromosome inactivation
  13. 13.  Animation: X-chromosome inactivation
  14. 14.  X-chromosome inactivation can explain asymptomatic carriers
  15. 15.  How sporadic cases of Rett syndrome can arise
  16. 16.  Challenge of mapping genes from small number of samples
  17. 17.  Animation: Exclusion mapping strategy
  18. 18.  Discovering the Rett syndrome gene
  19. 19.  Q&A: What happens to the males who inherit this gene?
  20. 20.  Q&A: Why don't symptoms appear until 6-18 months of age?
  21. 21.  Q&A: What causes the mutations in the specific gene?
  22. 22.  Q&A: Why don't cells inactivate the mutant gene?
  23. 23.  Q&A: Can you remove genes that cause disease?
  24. 24.  Q&A: How can you distinguish different neurological diseases?
  25. 25.  What does methyl-CpG-binding protein 2 (MeCP2) do?
  26. 26.  How MeCP2 regulates gene expression
  27. 27.  Animation: MeCP2 regulation of gene expression
  28. 28.  X-chromosome inactivation causes various phenotypes in girls
  29. 29.  Different MECP2 mutation causes various phenotypes in boys
  30. 30.  MECP2 gene is expressed during neuronal maturation
  31. 31.  Designing a mouse model for Rett syndrome
  32. 32.  Video: Rett mouse phenotypes
  33. 33.  Rett mouse revealed anxiety as a Rett syndrome phenotype
  34. 34.  Using DNA microarray to find genes regulated by MeCP2
  35. 35.  Finding other genes may explain mechanisms of other diseases
  36. 36.  Q&A: Why is MeCP2 not needed until neurons are fully mature?
  37. 37.  Q&A: Does sporadic Rett worsen in each generation?
  38. 38.  Q&A: How far away are you from improving patients' condition?
  39. 39.  Q&A: How is Rett syndrome turning some genes off?
  40. 40.  Closing remarks by HHMI President Dr. Thomas Cech


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