1. Genetics Home Reference http://ghr.nlm.nih.gov Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

2. Overview Human Genome Project What is Genetics Home Reference (GHR)? Demo Facts and Statistics Conclusion

3. Human Genome Project 13-year federally-funded effort to sequence the entire human genome Highly technical data available in scientific databases on the Internet Applications in basic and clinical research (gene testing, gene therapy, pharmacology) Findings are not readily accessible to the public

4. What is GHR? NLM consumer health resource Released in April 2003 Bridge between clinical questions of lay public and genomic research results Brief summaries of genetic conditions and their molecular basis written in understandable language

5. Genetics Home Reference demo http://ghr.nlm.nih.gov http://ghr.nlm.nih.gov

6. Genetics Home Reference http://ghr.nlm.nih.gov

7. Search Results

10. Linked Glossary Terms

11. Related Resources

12. Related Genes

13. SOD1 Gene

14. SOD1 Gene (cont’d)

15. Help Me Understand Genetics

16. Chapter I. Table of Contents

17. iii. What is a gene?

18. More Related Resources

19. Link to MedlinePlus

20. Link to ClinicalTrials.gov

21. Link to PubMed

22. Link to OMIM

23. LinkOut

24. Facts Coverage - Almost 100 conditions (that link to about 60 MedlinePlus health topics) - Approximately 130 genes Expert review by board-certified medical geneticists and other genetics professionals

25. Statistics Over 350,000 page views per month Approximately 1600 visitors daily.

26. Conclusion http://ghr.nlm.nih.gov More Information: Cheh M, Morrison S. Genetics Home Reference: A New Consumer Guide to Genetic Conditions. NLM Tech Bull. 2003 May-Jun;(332):e4. http://ghr.nlm.nih.gov/ghr/page/About