-National Organization For Rare Disorders (NORD). (2007). Rare Disease Facts& Figures. Retrieved July 5, 2010, from Discovery Health, New York. Website: http://health.discovery.com/features/rare-disease-day/facts-and-figures-print.html. -NORD. (2010). Disease Information from NORD. Retrieved July 4, 2010, from National Organization for Rare Disorders, Danbury, CT. Web site: http://www.rarediseases.org/helping/moneyused.-NIH: National Human Genome Research Institute. (2010). Genetic Disorders. Retrieved July 4, 2010, from Medline Plus, Bethesda, MD. Web site: http://www.nlm.nih.gov/medlineplus/geneticdisorders.html.-The Global Genes Project, . (2010). 250 Million People Worldwide Estimated to Suffer from Rare Disease. Retrieved July 6, 2010, from PR Newswire, Dana Point, CA. Website: http://www.prnewswire.com/news-releases/250-million-people-worldwide-estimated-to-suffer-from-rare-disease-86827832.html#linktopageto


  • A disease is considered rare in the US if it affects fewer than 200,000 people.
  • There are between 6,000-7,000 rare diseases that affect 25-30 million people in the US.
  • Approximately 50-65% of the people affected by rare diseases are children.
  • Approximately 22.5 million families have children affected by rare diseases.
  • 1 in 10 Americans suffer from rare diseases.
  • It is estimated that rare diseases affect nearly 250 million people worldwide.

  • Many rare diseases strike kids and as a result these chronic and life-threatening conditions create an immense burden on caregivers as well as the education and healthcare systems.-- Nicole Boice, Founder/CEO of the Global Genes Project


  • What is a "Rare Disease"?

A rare disease is any disease that is known to affect fewer than 200,000 people in the US.  This is the definition used by the US Food and Drug Administration (FDA) to determine whether a treatment may be eligible for "orphan" drug status.

  • How many rare diseases are there?

According to the National Institute of Health (NIH), there are approximately 6,000 rare diseases affecting more than 25 million Americans.  Even though each disease may affect only a small number of people, rare diseases collectively have a significant impact.

  • What is a genetic disease?

A genetic disease is a disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation.  Many diseases have a genetic aspect.  Some, including many cancers, are caused by a mutation in a gene or group of genes in a person's cells.  These mutations can occur randomly or because of an environmental exposure such as cigarette smoke.  Other genetic disorders are inherited.  A mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease.  Still other genetic disorders are due to problems with the number of packages of genes called chromosomes. 

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