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

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Page 1: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Genetics Home Referencehttp://ghr.nlm.nih.gov

Anna RippleNational Library of Medicine

Bethesda, Maryland

MLA PresentationMay 2004

Page 2: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

OverviewOverview

Human Genome Project

What is Genetics Home Reference (GHR)?

Demo

Facts and Statistics

Conclusion

Page 3: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Human Genome ProjectHuman 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

Page 4: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

What is GHR?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

Page 5: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Genetics Home Reference Genetics Home Reference demodemo

http://http://ghr.nlm.nih.govghr.nlm.nih.gov

Page 6: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Genetics Home ReferenceGenetics Home Referencehttp://ghr.nlm.nih.govhttp://ghr.nlm.nih.gov

Page 7: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Search ResultsSearch Results

Page 8: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004
Page 9: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004
Page 10: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Linked Glossary TermsLinked Glossary Terms

Page 11: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Related ResourcesRelated Resources

Page 12: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Related GenesRelated Genes

Page 13: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

SOD1 GeneSOD1 Gene

Page 14: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

SOD1 Gene (cont’d)SOD1 Gene (cont’d)

Page 15: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Help Me Understand GeneticsHelp Me Understand Genetics

Page 16: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Chapter I. Table of ContentsChapter I. Table of Contents

Page 17: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

iii. What is a gene?iii. What is a gene?

Page 18: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

More Related ResourcesMore Related Resources

Page 19: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Link to MedlinePlusLink to MedlinePlus

Page 20: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Link to ClinicalTrials.govLink to ClinicalTrials.gov

Page 21: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Link to PubMedLink to PubMed

Page 22: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

Link to OMIMLink to OMIM

Page 23: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

LinkOutLinkOut

Page 24: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

FactsFacts

•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

Page 25: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

StatisticsStatistics

•Over 350,000 page views per month

•Approximately 1600 visitors daily

Page 26: Genetics Home Reference  Anna Ripple National Library of Medicine Bethesda, Maryland MLA Presentation May 2004

ConclusionConclusion

•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