• Genetics of Developmental Disorders
• 37 min
  1. Imprinting disorders associated with molecular changes on chromosome 11p15

  • Prof. Rosanna Weksberg
• 34 min
  2. Chromatin genes and disease

  • Prof. Richard Gibbons
• 51 min
  3. Heterochromatin, epigenetics and gene expression

  • Prof. Joel C. Eissenberg
• Cardiopulmonary Disease
• 56 min
  4. Transcription factors and complex disease development

  • Dr. Ines Pineda-Torra
• 21 min
  5. Molecular genetics of pulmonary arterial hypertension

  • Prof. Richard C. Trembath
• Neuromuscular System Diseases
• 66 min
  6. Gene therapy for the muscular dystrophies

  • Prof. Jeff Chamberlain
• 45 min
  7. RAS pathway and disease: neurofibromatosis and beyond

  • Prof. Eric Legius
• 57 min
  8. Congenital syndromes of pain and painlessness

  • Prof. Geoff Woods
  • Prof. James Cox
• Endocrinology and Metabolism
• 41 min
  9. Changing lives: stratified medicine in monogenic diabetes

  • Prof. Andrew Hattersley
• 31 min
  10. Genetics of monogenic obesity 1

  • Prof. Dr. Johannes Hebebrand
  • Prof. Dr. Anke Hinney
• 28 min
  11. Genetics of monogenic obesity 2

  • Prof. Dr. Johannes Hebebrand
  • Prof. Dr. Anke Hinney
• 29 min
  12. Traffic problems: inherited disease and intracellular trafficking defect

  • Dr. Paul Gissen
• Cancer Genetics
• 53 min
  13. Inherited predisposition to breast cancer

  • Prof. Diana Eccles
• 56 min
  14. Genetics of breast and ovarian cancer

  • Prof. Jeffrey Weitzel
• 21 min
  15. PTEN hamartoma-tumour syndrome: a model for the practice of clinical cancer genetics

  • Prof. Charis Eng
• 34 min
  16. NF2-related Schwannomatosis and Gorlin Syndrome

  • Prof. D. Gareth R. Evans
• 52 min
  17. The genetic basis of kidney cancer

  • Dr. W. Marston Linehan
• Oligogenic and Complex Diseases
• 55 min
  18. Ciliopathies and oligogenic phenomena

  • Prof. Nicholas Katsanis
• Therapy
• 39 min
  19. Mismatch repair deficient cancers & Lynch syndrome

  • Prof. Sir John Burn
• Archived Lectures *These may not cover the latest advances in the field
• 44 min
  20. Mismatch repair deficient cancers: diagnosis, treatment and prevention

  • Prof. Sir John Burn
• 52 min
  21. NF2 & Gorlins

  • Prof. D. Gareth R. Evans

Printable Handouts

PDF

Navigable Slide Index

1. Introduction
2. Objectives
3. What is epigenetics?
4. Epigenetic regulation and genomic imprinting
5. What is genomic imprinting
6. Imprinted genes
7. Imprinted genes in early development
8. Cell type-specific epigenetic patterns
9. Genomic organization of imprinted genes
10. Imprinting center
11. Imprinted domain 1 on chromosome 11p15.5
12. Complexity of imprinted clusters
13. Beckwith-Wiedemann syndrome (BWS)
14. BWS: epidemiology
15. BWS: clinical features
16. BWS: complex, clinically heterogeneous disorder
17. When do findings = diagnosis?
18. Molecular basis of BWS
19. Etiology of the BWS
20. Molecular alterations associated with BWS
21. Frequency of molecular alterations in BWS
22. Does the molecular change make a difference?
23. Clinical features and molecular etiology
24. What are the risks to ART treated parents?
25. Protection of marks during early development
26. Subfertility/assisted reproductive technologies
27. BWS molecular defects
28. Multiple phenotypes associated with 11p15 UPD
29. Somatic mosaicism
30. Isolated hemihyperplasia
31. High level constitutional UPD
32. Sources of molecular testing strategies
33. Laboratory testing for BWS
34. MS-MLPA
35. Expected methylation results from MS-MLPA
36. MLPA molecular testing for BWS
37. Example of a report
38. Benefits of BWS molecular testing
39. Cancer risk & surveillance
40. Prenatal testing options
41. Current Challenges in BWS molecular testing
42. Duplications and deletions in 11p15.5
43. Frequency of CNVs according to methylation
44. Challenges in MS-MLPA and microarray tests
45. BWS molecular diagnosis case
46. Molecular diagnosis results
47. Explaining the misclassification
48. Monozygotic twins and BWS
49. Recommendations for monozygotic twins
50. Isolated hemihyperplasia
51. Molecular testing and isolated hemihyperplasia
52. 11p15 molecular testing (mosaicism)
53. 11p15 molecular testing (asymmetry)
54. Opposite imprinting alterations on 11p15
55. Russell-Silver syndrome (RSS)
56. Chromosomal regions associated with RSS
57. BWS case with a history of IUGR
58. Targeted assays of multiple imprinted loci-BWS
59. Different combinations of epigenetic alterations
60. Questions by a pregnant woman with BWS
61. Pregnant woman molecular testing
62. Imprint deregulation causing disease in humans
63. Answers to referral questions
64. Pregnant woman follow-up
65. Acknowledgments

Topics Covered

• What is epigenetics?
• Epigenetic regulation forms the molecular basis for genomic imprinting
• What is genomic imprinting
• Imprinted genes in early development
• Genomic organization of imprinted genes
• Imprinting center
• Imprinted domain 1 on chromosome 11p15.5
• Complexity of imprinted clusters
• Beckwith-Wiedemann syndrome (BWS)
• BWS: a complex, clinically heterogeneous disorder
• Molecular basis of BWS
• Etiology of the Beckwith-Wiedemann syndrome
• Molecular alterations associated with BWS
• Frequency of molecular alterations in BWS
• The risks to subfertile/ART treated parents
• Subfertility/assisted reproductive technologies (ART)
• BWS molecular defects
• Multiple phenotypes associated with somatic mosaicism for 11p15 UPD
• Somatic mosaicism
• Isolated hemihyperplasia
• High level constitutional UPD
• BWS molecular testing strategies
• Laboratory testing for BWS
• MS-MLPA
• Expected methylation results from MS-MLPA
• MLPA molecular testing for BWS
• Cancer risk & surveillance
• Prenatal testing options
• Current challenges in BWS molecular testing
• Frequency of CNVs according to methylation pattern
• Monozygotic twins and BWS
• Isolated hemihyperplasia
• Current challenges in chromosome 11p15 molecular testing
• Russell-Silver syndrome (RSS
• Chromosomal regions associated with RSS
• Targeted assays of multiple imprinted loci-BWS
• Different combinations of epigenetic alterations associated with variations in clinical phenotype
• Imprint deregulation causing disease in humans

Links

Series:

• Molecular Genetics of Human Disease

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice
• Genetics & Epigenetics

Talk Citation

Publication History

• Published on September 3, 2014

Financial Disclosures

• Prof. Rosanna Weksberg has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.