1 / 31

Genetics Home Reference ghr.nlm.nih Anna Ripple National Library of Medicine

MLA Presentation May 2006. Genetics Home Reference http://ghr.nlm.nih.gov Anna Ripple National Library of Medicine Bethesda, Maryland. Topics to Present. Background of GHR project Progress to date Behind the scenes technically Demo of GHR Plans for the future. Human Genome Project.

maxelson
Download Presentation

Genetics Home Reference ghr.nlm.nih Anna Ripple National Library of Medicine

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. MLA Presentation May 2006 Genetics Home Reference http://ghr.nlm.nih.gov Anna Ripple National Library of Medicine Bethesda, Maryland

  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. Starting Point 11/15/01 OMIM 1792 diseases MedlinePlus 600 Topics 19 Diseases GeneTests 125 Reviews 890 Tests Entrez Gene 13,180 Gene-protein products

  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. 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 GHR Team

  16. GHR Architecture

  17. Demo of GHRFocus on Parkinson Disease http://ghr.nlm.nih.gov/

  18. Parkinson disease

  19. PARK2 Gene

  20. Chromosome 6

  21. Condition Page Sidebar

  22. References

  23. LinkOut

  24. Link to MedlinePlus

  25. Link to Bookshelf

  26. Link to ClinicalTrials.gov

  27. Link to OMIM

  28. 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. Designof 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

  29. 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

More Related