# Presentation: 419797

**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

**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”**

## 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”?

**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”?**

## Human Disease Genes

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

## 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, ....**

## 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**

## Building Bridges

## OMIM

**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**

## Genetics Home Reference

**Conditions       genes       chromosome**
**Multiple relationships between conditions and genes **
**Builds on NLM resources**
**Public launch April 2003**

## 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**

## Reaching Critical Mass

## Statistics

**> 4,000,000 hits per month**
**> 7000 visitors **
**   ****daily**

**.**

## 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**

## 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**

## GHR Architecture

## Demo of GHRFocus on Parkinson Disease

- _[http://](http://ghr.nlm.nih.gov/)__[ghr.nlm.nih.gov](http://ghr.nlm.nih.gov/)__[/](http://ghr.nlm.nih.gov/)_

## Slide 18

## Parkinson disease

## PARK2 Gene

## Chromosome 6

## Condition Page Sidebar

## References

## LinkOut

## Link to MedlinePlus

## Link to Bookshelf

## Link to ClinicalTrials.gov

## Link to OMIM

## 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**

## 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

**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**