A disease is rare if fewer than 200,000 people in the United States have it. There are close to 7,000 rare diseases and about 25 million people in the U.S. have one. Many rare diseases are caused by changes in genes and are called genetic diseases.
National Institutes of Health Office of Rare Diseases
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Genetic and Rare Diseases Information Center
(Office of Rare Diseases) - http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4
- Orphan Products: Hope for People with Rare Diseases(Food and Drug Administration) - http://www.fda.gov/fdac/features/2003/603_orphan.html
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Financial Assistance Information(National Human Genome Research Institute) - http://www.genome.gov/11008842
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ClinicalTrials.gov: Rare Diseases(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Rare+Diseases%22
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Genetics Home Reference(National Library of Medicine) - http://ghr.nlm.nih.gov/
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Genetics Home Reference: Genetic Conditions(National Library of Medicine) - http://ghr.nlm.nih.gov/BrowseConditions
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All about the Human Genome Project (HGP)(National Human Genome Research Institute) - http://www.genome.gov/10001772
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: The many "small COPDs": COPD should be an orphan disease. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18779197&tool=MedlinePlus
- Article: Orphan diseases: which ones do we adopt? - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18694885&tool=MedlinePlus
- Article: Optimal therapy for rare disorders and genetic diseases: ethical and... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18605224&tool=MedlinePlus
- Rare Diseases -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=rare+diseases[majr]+AND+humans[mh]+AND+english[la]+NOT+(letter[pt]+OR+editorial[pt]+OR+case+reports[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
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Rare Diseases and Related Terms(Office of Rare Diseases) - http://rarediseases.info.nih.gov/RareDiseaseList.aspx?PageID=1
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Terms and Definitions (Rare Diseases)(Office of Rare Diseases) - http://rarediseases.info.nih.gov/Wrapper.aspx?src=asp/glossary/glossary_a-e.asp
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Genetic and Rare Diseases Information Center(Office of Rare Diseases) - http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4
- Other Sources of Rare Disease/Orphan Product Information(Food and Drug Administration) - http://www.fda.gov/orphan/rdid/
- Food and Drug Administration, Office of Orphan Products Development - http://www.fda.gov/orphan/
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Genetic and Rare Diseases Information Center(Office of Rare Diseases, National Human Genome Research Institute) - http://www.genome.gov/10000409
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Office of Rare Diseases - http://rarediseases.info.nih.gov/
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Rare Diseases Clinical Research Network(Office of Rare Diseases, National Center for Research Resources) - http://rarediseasesnetwork.epi.usf.edu/
- Celebrating the Successes of the Orphan Drug Act(Food and Drug Administration) - http://www.fda.gov/consumer/updates/oda020808.html
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FDA Fights Rare Diseases: New Help for Patients without Treatments(Food and Drug Administration) - http://www.fda.gov/opacom/factsheets/justthefacts/10orph.html
Also available in Spanish http://www.fda.gov/opacom/factsheets/justthefacts/10orphsp.html
- Genetic Disorders - http://www.nlm.nih.gov/medlineplus/geneticdisorders.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
- Symptoms - http://www.nlm.nih.gov/medlineplus/symptoms.html
The primary NIH organization for research on Rare Diseases is the NIH Office of Rare Diseases - http://rarediseases.info.nih.gov/