FAQ: Genetics Resources

Question: Where do I find information on genetic conditions?

Answer: 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