Understanding RRP: a genetic undertaking

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Understanding RRP a genetic undertaking

• Farrel J. Buchinsky, MD
• Pediatric Otolaryngologist
• Allegheny General Hospital
• Pittsburgh, PA

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What is the cause of RRP?
HPV 6 11

• Necessary
• Is it sufficient?

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Many exposed

• Only few get the disease

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Aggressiveness

• gt 10 procedures
• 4 per year
• Trach-bronch involved
• Dx lt 4 years of age
• HPV 11 (tenuous)

• 10 procedures
• lt 4 per year
• Trach-bronch spared
• Dx gt 4 years of age
• HPV 6 (tenuous)

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Spectrum of Understanding
Genetics
Cell Biology
Disease
Epidemiology
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Genetics

• HLA evidence
• Certain types disproportionately frequent amongst
  patients with RRP
• DQA evidence in rabbits
• Certain types more likely to clear the infection

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Classic Genetic Disease?
RRP does not fit this pattern
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Case-Control?

• Cannot do a conventional case-control study
  because
• Who was exposed to the virus?
• How do we know if they did not or will not have
  RRP?

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TDT
Transmission dysequilibrium test If one knows
the genetic characteristics of the parents then
one knows the genetic makeup of all their
possible children . So if there is a gene that is
present at a surprisingly high percentage then
one can isolate and study that gene.
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Help Wanted
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So whats needed
2 wart specimens (1 mm 1 mm) OR HPV type (6
versus 11) information if known
Specimen of Blood
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From who?
father
mother
Child with RRP
Siblings no blood needed unless one parent
unavailable
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Plan

• RRP Task Force
• Center for Genomic Sciences, Pittsburgh PA
• Already made genetic discoveries in
• Reflux
• Hereditary pancreatitis
• Crouzons disease
• NIH funding application