Genetics Home Reference®

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  • 1. Genetics Home Reference http://ghr.nlm.nih.gov Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2006
  • 2. Topics to Present
    • Background of GHR project
    • Progress to date
    • Behind the scenes technically
    • Demo of GHR
    • Plans for the future
  • 3. Human Genome Project
    • International research effort
    • Determine DNA sequence
    • Began 1990, completed in 2003
    • Next steps for ~20,000 genes
      • Function and regulation of all genes
      • Significance of variations in sequence
      • Cures, therapies, “genomic medicine”
  • 4. The Big Questions
    • What has the Genome Project done for me with my disease?
    • What information is arising related to human health?
    • How will this lead to “personalized medicine”?
  • 5. Human Disease Genes
    • Genes linked to health conditions
    • + 425 in 3 years
    • 2000/20,000 = 10% of genes
  • 6. Genomics is Impacting Medicine Today!
    • 2000 genes & health conditions
    • 1200 gene tests for diagnosis
    • 600 laboratories worldwide
    • Relate to diagnosis, therapy, drug dosage, occupational hazards, reproductive plans, health risks, ….
  • 7. Thus Began GHR
    • Information accessible to the public
    • Bridge from lay public questions to genomic medicine research results
    • Brief summaries in lay language
    • Links to existing resources
  • 8. Building Bridges
  • 9. OMIM 1792 diseases MedlinePlus 600 Topics Entrez Gene 13,180 Gene-protein products GeneTests 125 Reviews 890 Tests 19 Diseases Starting Point 11/15/01
  • 10. Genetics Home Reference
    • Conditions genes chromosome
    • Multiple relationships between conditions and genes
    • Builds on NLM resources
    • Public launch April 2003
  • 11. GHR Facts (April 2006)
    • Coverage > 500 topics
      • > 190 conditions
      • > 310 genes
      • 23 pair of chromosomes
      • > 100 MedlinePlus topics
      • Handbook with 7 chapters
      • > 1250 glossary entries
  • 12. Reaching Critical Mass
  • 13. Statistics
    • > 4,000,000 hits per month
    • > 7000 visitors
    • daily
    .
  • 14. Kudos from the Public
    • News links from CNN, Nature, Forbes
    • Positive feedback:
      • “ The best overall reference on human heredity for students…” - from educator
      • “ The first time I have read information that was parent friendly...” - from parent
      • “ Just what I have been searching for several years…” - from physician
  • 15. GHR Team
    • Content Developers
      • Sherri Calvo, MS, MBA
      • Cathy Fomous, PhD
      • Stephanie Morrison
      • Diane Mucci, PhD
    • System Evaluators
      • Rob Logan, PhD
      • May Cheh, MS
    • 102 Content Experts
    • System Developers
      • Jane Fun
      • Phillips Wolf
      • Nicholas Ide
      • John Gillen
      • Russell Loane, PhD
      • Eric Dorfman
    • Senior Advisor
      • Joyce Mitchell, PhD
  • 16. GHR Architecture
  • 17. Demo of GHR Focus on Parkinson Disease http:// ghr.nlm.nih.gov /
  • 18.  
  • 19.  
  • 20. Parkinson disease
  • 21. PARK2 Gene
  • 22. Chromosome 6
  • 23. Condition Page Sidebar
  • 24. References
  • 25. LinkOut
  • 26. Link to MedlinePlus
  • 27. Link to Bookshelf
  • 28. Link to ClinicalTrials.gov
  • 29. Link to OMIM
  • 30. GHR Publications
    • - Mitchell JA, Fomous C, Fun J.  Challenges and Strategies of the Genetics Home Reference.  JMLA 2006 In press.
    • - Mitchell JA, Fun J, McCray AT. Design of Genetics Home Reference: a new NLM consumer health resource. J Am Med Inform Assoc. 2004 Nov-Dec;11(6):439-47. Epub 2004 Aug 6. PMID: 15298997
  • 31. GHR: Long Term Goals
    • All MedlinePlus topics with genetic association
      • >150 more
    • All gene-disease relationships
      • 2000 and rising
    • “ THE Starting Point ” for genetics health information for the public