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Understanding and Curing RRP: a genetic undertaking

Understanding and Curing RRP: a genetic undertaking. Allegheny General Hospital Pittsburgh, PA. Farrel J. Buchinsky, MD Pediatric Otolaryngologist. Center for Genomic Sciences Allegheny Singer Research Institute. Interest Piqued. “Cool” Surgery Ridiculous outcome

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Understanding and Curing RRP: a genetic undertaking

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  1. Understanding and Curing RRP: a genetic undertaking Allegheny General Hospital Pittsburgh, PA Farrel J. Buchinsky, MD Pediatric Otolaryngologist Center for Genomic Sciences Allegheny Singer Research Institute

  2. Interest Piqued • “Cool” Surgery • Ridiculous outcome • Because kept coming back

  3. What is the cause of RRP? HPV 6 & 11 • Necessary • Is it sufficient?

  4. Many exposed • Only few get the disease

  5. Spectrum of Understanding Genetics • Understanding increases probability of developing cure or eradication Cell Biology Disease Epidemiology

  6. Life

  7. Genetics at its simplest

  8. Genes "Baking with Julia" Collection of Recipe Books Recipe

  9. Genes

  10. Center for Genomic SciencesAllegheny General Hospital, Pittsburgh

  11. We each have two sets of genes

  12. TDT

  13. From who?

  14. Funding

  15. Acquisition IRB IRB IRB

  16. IRB • Approved • Allegheny General Hospital, Pittsburgh • Children's Hospital of the King's Daughters, Norfolk • Children's Hospital of Wisconsin, Milwaukee • Children's National Medical Center, Washington • Cincinnati Children's Hospital Medical Center • Johns Hopkins Children's Center, Baltimore • Children's Medical Center of Dallas • Children's Hospital of Philadelphia • SUNY Upstate Medical Center, Syracuse • Hospital for Sick Children, Toronto • Children's Hospital of Alabama, Birmingham • Pending • University of California - San Francisco • Children's Hospital and Regional Medical Center, Seattle

  17. Enrolment 13 from Patient Support Groups

  18. Which gene or genes • 3x109 bases • Candidate Gene Approach • Genomic Scan Approach

  19. Epidermodysplasia Verruciformis • Rare, autosomal recessive, skin disease • Abnormal susceptibility to specific HPVs (5 and 8) • persistent lesions that do not clear virus • 4 specific mutations found in EVER1 Dr. Mark Naylor, Electronic Textbook of Dermatology

  20. EVER1 Mutations not present in RRP First 60 Positive control Allele Specific PCR RFLP Positive control

  21. Maybe somewhere else in EVER1 Looking at about 20 SNP markers in area

  22. Candidates • MHC • Innate Immunity • Toll-like receptors • Known Cell Biology Interactions • E5 inhibits H+ATPase from acidifying vesicles • Other Diseases • Epidermodysplasia Verruciformis • Cervical Cancer

  23. illumiCode #561 illumiCode #217 illumiCode #1024 /\/\/\/ /\/\/\/ /\/\/\/ /\/\/\/ /\/\/\/ T/T A/T A/A Whole Genome • 96 humans at a time • 6000 SNPs, more coming Illumina SNP Assay

  24. Challenge I • Distributed, replicated with random noise • IRB

  25. Challenge II • Need many more patients • Support Groups • International • www.rrpgenetics.org

  26. More Patients + Parents • More Data • Believable Conclusions • Understanding

  27. Acknowledgments • CGS • Garth Ehrlich, Chris Post • Joseph Donfack, Marilyn Smith, Fen Hu • Earliest Collaborators • Craig Derkay, Suzanne Leal • Patient Support Groups • Michael Green, Bill Stern fbuchins@wpahs.org cell: (412) 779-1073 Thank You!

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