Key Facts On Rare Diseases
When is a disease, disorder, or syndrome considered rare?
A disease defined as rare in Europe when it affects fewer than 1 in 2,000 people1. A disease is defined as rare in the United States when it affects fewer than 200,000 Americans at any given time2.
1 Genetic and Rare Diseases Information Center; National Center for Advancing Translational Sciences; FAQs About Rare Diseases; 11/30/2017. [https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases](https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases)
2CFR 316.20 or Sec 526 of the Orphan Drug Act. [https://www.fda.gov/forindustry/developingproductsforrarediseasesconditions/howtoapplyfororphanproductdesignation/ucm364750.htm](https://www.fda.gov/forindustry/developingproductsforrarediseasesconditions/howtoapplyfororphanproductdesignation/ucm364750.htm)
What percentage of rare diseases are genetic?
Between 72%-80% of rare diseases are genetic while others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative4.
4Research recently published in the European Journal of Human Genetics, article authored by EURORDIS-Rare Diseases Europe, Orphanet & Orphanet Ireland “Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.” https://www.nature.com/articles/s41431-019-0508-0
How many rare diseases have a treatment approved by the United States Food and Drug Administration?
Over 95% of rare diseases are without an FDA- approved treatment6.
6IQVIA Institute for Human Data Science. Orphan Drugs in the United States: Exclusivity, Pricing and Treated Populations. 2018 Dec. https://www.iqvia.com/-/media/iqvia/pdfs/institute-reports/orphan-drugs-in-the-united-states-exclusivity-pricing-and-treated-populations.pdf
How many rare diseases are there?
There may be as many as 7,000 rare diseases3.
3Genetic and Rare Diseases Information Center; National Center for Advancing Translational Sciences; FAQs About Rare Diseases; 11/30/2017. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
How many Americans have a rare disease?
It’s estimated that 25-30 Million Americans (almost 1 in 10) have rare diseases5.
5Genetic and Rare Diseases Information Center; National Center for Advancing Translational Sciences; FAQs About Rare Diseases; 11/30/2017. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
How do rare diseases impact children?
For many rare diseases, signs may be observed at birth or in childhood7. Many rare diseases result in premature deaths of infants and young children, or are fatal in early childhood8.
7Orphanet; About Rare Diseases. Last Updated 10/25/12. https://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN
8Institute of Medicine (US) Committee on Accelerating Rare Diseases Research and Orphan Product Development; Field MJ, Boat TF, Washington (DC): National Academies Press (US); 2010. https://www.ncbi.nlm.nih.gov/pubmed/21796826
Are any types of cancer considered rare?
There are more than 500 types of rare cancers9. All pediatric cancers are rare10.
9Genetic and Rare Diseases Information Center; National Center for Advancing Translational Sciences; Rare Cancers; 1/25/2019. https://www.youtube.com/watch?v=ES5KylRT1qY || https://rarediseases.info.nih.gov/diseases/diseases-by-category/1/rare-cancer
10National Cancer Institute, National Institutes of Health: Unusual Cancers of Childhood Treatment (PDQ®)–Health Professional Version was originally published by the National Cancer Institute; August 2018. https://www.cancer.gov/types/childhood-cancers/hp/unusual-cancers-childhood-pdq
