Genetics Home Reference http ghr nlm nih gov

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

Topics to Present n n n Background of GHR project Progress to date Behind the scenes technically Demo of GHR Plans for the future 2

Human Genome Project n n 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” 3

The Big Questions What has the Genome Project done for me with my disease? n What information is arising related to human health? n How will this lead to “personalized medicine”? n 4

Human Disease Genes n n n Genes linked to health conditions + 425 in 3 years 2000/20, 000 = 10% of genes 5

Genomics is Impacting Medicine Today! n n 2000 genes & health conditions 1200 gene tests for diagnosis 600 laboratories worldwide Relate to diagnosis, therapy, drug dosage, occupational hazards, reproductive plans, health risks, …. 6

Thus Began GHR n Information accessible to the public n Bridge from lay public questions to genomic medicine research results n Brief summaries in lay language n Links to existing resources 7

Building Bridges 8

Starting Point 11/15/01 OMIM Medline. Plus 1792 diseases 600 Topics 19 Diseases Entrez Gene. Tests 13, 180 Geneprotein products 125 Reviews 890 Tests 9

Genetics Home Reference n Conditions n Multiple relationships between conditions and genes Builds on NLM resources Public launch April 2003 n n genes chromosome 10

GHR Facts (April 2006) n Coverage > 500 topics – > 190 conditions – > 310 genes – 23 pair of chromosomes – > 100 Medline. Plus topics – Handbook with 7 chapters – > 1250 glossary entries 11

Reaching Critical Mass 12

Statistics > 4, 000 hits per month n > 7000 visitors daily n 13

Kudos from the Public n n 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 14

GHR Team n Content Developers – – n System Evaluators 102 Content Experts System Developers – – – Sherri Calvo, MS, MBA Cathy Fomous, Ph. D Stephanie Morrison Diane Mucci, Ph. D – Rob Logan, Ph. D – May Cheh, MS n n n Jane Fun Phillips Wolf Nicholas Ide John Gillen Russell Loane, Ph. D Eric Dorfman Senior Advisor – Joyce Mitchell, Ph. D 15

GHR Architecture 16

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

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Parkinson disease 20

PARK 2 Gene 21

Chromosome 6 22

Condition Page Sidebar 23

References 24

Link. Out 25

Link to Medline. Plus 26

Link to Bookshelf 27

Link to Clinical. Trials. gov 28

Link to OMIM 29

GHR Publications - Mitchell JA, Fomous C, Fun J. Challenges and Strategies of the Genetics Home Reference. JMLA 2006 In press. - Mitchell JA, Fun J, Mc. Cray 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 30

GHR: Long Term Goals n All Medline. Plus topics with genetic association – >150 more n All gene-disease relationships – 2000 and rising n “THE Starting Point” for genetics health information for the public 31