Rare Disease FAQs

~From GlobalGenes.org – visit their website for more Rare Disease FAQs and statistics

  • Approximately 7,000 rare disorders are known to exist and new ones are discovered each year
  • One in 10 Americans is living with a rare disease
  • Rare disease impacts more people than cancer and HIV combined
  • In North Carolina, over a million people suffer with a rare disease
  • Children represent the vast majority of those afflicted with rare disease
  • Approximately 80 percent of rare diseases are not acquired; they are inherited. They are caused by mutations or defects in genes
  • In the United States, rare diseases are defined as those affecting 200,000 or fewer people or about 1 per 1,000
  • Rare disease is often referred to as an “orphan” disease
  • Orphan or rare diseases are often not pursued by the pharmaceutical industry because they provide little financial incentive for the private sector to make and market new medications to treat or prevent them and because there are not enough patients to make research cost-effective
  • Research on rare diseases can often lead to advances in our understanding of common diseases such as cancer, heart disease, diabetes, stroke and other major health problems
  • As a whole, rare diseases represent a large medical challenge. Combine this with the lack of financial incentives to treat or cure rare diseases, and a serious public health issue is created
  • The US Orphan Drug Act (ODA) of 1983 has been one of the most successful pieces of health related legislation ever enacted in the United States. Through a system of tax credits, government grants, assistance for clinical research, as well as seven years marketing exclusivity, the Orphan Drug Act has resulted in hundreds of approved orphan medicines, treating over millions of patients worldwide. Similar legislation has been adopted in Japan, Australia and the UK
  • North Carolina passes legislation in 2015 creating the N.C. Rare Disease Council to give guidance to the Governor, the Secretary, and the General Assembly on research, diagnosis, treatment and education related to rare disease