FAQ: Genetics Resources

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Where do I find information on genetic conditions?

You can use the following NIH and NLM resources:

• Genetics Home Reference contains definitions of a genetic conditions, gene summaries that explain mutations, and chromosome summaries that explain how changes in numbers or structure can lead to certain disorders.
  http://ghr.nlm.nih.gov
  
  
• MedlinePlus has health topic pages on:
  • Genetic Disorders
  • Genes and Gene Therapy
  • Genetic Testing
  • Genetic Counseling .
    
  • For specific genetic disorders like Down Syndrome, Cystic Fibrosis, and Genetic Brain Disorders, go to the Genetics/Birth Defects Index page at http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
  
  
  
• New Web Resource for Accessing Information on Genetic Diseases
  
  
• Genetic and Rare Disease Information Center The National Human Genome Research Institute NHGRI) and the Office of Rare Diseases (ORD) have experts who will answer questions from the public.
  http://rarediseases.info.nih.gov/Wrapper.aspx?src=asp/html/resources/info_cntr.html&PageID=4
  
  
• Search the list of rare diseases terms at http://rarediseases.info.nih.gov/RareDiseaseList.aspx?PageID=1
  
  
• Genes and Disease is an online book that describes the genetic basis for diseases and conditions.
  http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd
  
  
• The Talking Glossary of Genetic Terms was created by NHGRI to help people without scientific backgrounds understand the terms and concepts used in genetic research.
  http://www.genome.gov/10002096
  
  
• Specific Genetic Disorders is a list, created by NHGRI, of diseases with a genetic component.
  http://www.genome.gov/10001204
  
  
• Genetic Alliance has a searchable database of disease support groups.
  http://www.geneticalliance.org/
  
  

For a more comprehensive list of resources go to the list provided by the Office of Rare Diseases site at http://rarediseases.info.nih.gov/Resources.aspx?PageID=1

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http://www.nlm.nih.gov/services/genetics_resources.html

Last reviewed: 10 July 2008
Last updated: 10 July 2008
First published: 27 July 2006
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