Matt Bower, MS, CGC - Huntington's Disease Society of America

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History of HD in America Huntington G. (1872) The Medical and Surgical Reporter 26(15))
What was notable about Dr. Huntington’s description? • Published when he was only 22 years old! • His only medical publication. • Drew on 78 years of records from his family’s medical practice on long island • Accurate description of the hereditary nature of the disease • Gregor Mendel had only described dominant and recessive patterns of inheritance in 1865 (using peas!)
Page 1 and 2: Genetics and Huntington disease Mat
Page 3 and 4: Presenter Disclosures Matthew Bower
Page 5: HD history--Making genetics interes
Page 9 and 10: While we understood the inheritance
Page 11 and 12: Why Venezuela? • Lake Maracaibo r
Page 13 and 14: Where is our genetic information st
Page 15: Ancient history of HD • Some desc
Page 18 and 19: The HD story- finding the gene Pers
Page 20 and 21: How do you map a gene? • You need
Page 22: What comes next? • Researchers tr
Page 25 and 26: HD Presumed gene location of the HD
Page 27 and 28: Success! • [No authors listed] Th
Page 30 and 31: Discovering the HD gene • The HD
Page 32 and 33: Discovery of HD gene opened the doo
Page 34 and 35: Predictive Testing Guidelines Key P
Page 36 and 37: Lessons from 15 years of predictive
Page 38 and 39: Life in a Molecular Diagnostics Lab
Page 40 and 41: Life in a Molecular Lab • The mol
Page 42: Receiving the sample • One of the
Page 45 and 46: DNA precipitation- DNA is “pulled
Page 47 and 48: PCR- molecular “xeroxing” Fluor
Page 50: 15 20 15 and 20 CAG repeats 17 63 1
Page 53 and 54: Technical results- “CAG” repeat
Page 55 and 56: Official repeat ranges for HD • 9
Page 57 and 58:
Diagnosis-65 Diagnosis-40 Diagnosis
Page 59 and 60:
Anticipation is due to expansion of
Page 61 and 62:
HD without a family history A molec
Page 63:
HD “skips generations” Died age
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Matt Bower, MS, CGC - Huntington's Disease Society of America

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