1.The Legislature finds and declares: a. A rare disease is defined as a disease that affects fewer than 20,000 people. Rare diseases are sometimes called orphan diseases. There are 7,000 rare diseases affecting approximately 25 to 30 million Americans; b. The exact cause for many rare diseases remains unknown. However, 80 percent of rare diseases are genetic in origin and can be linked to mutations in a single gene or in multiple genes which can be passed down from generation to generation; c. A person suffering with a rare disease faces a wide range of challenges, including delays in obtaining a diagnosis; being misdiagnosed; shortages of medical specialists who can provide treatment for rare diseases; and the lack of therapies and medication that are used by doctors to treat rare diseas
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1. The Legislature finds and declares: a. A rare disease is defined as a disease that affects fewer than 20,000 people. Rare diseases are sometimes called orphan diseases. There are 7,000 rare diseases affecting approximately 25 to 30 million Americans; b. The exact cause for many rare diseases remains unknown. However, 80 percent of rare diseases are genetic in origin and can be linked to mutations in a single gene or in multiple genes which can be passed down from generation to generation; c. A person suffering with a rare disease faces a wide range of challenges, including delays in obtaining a diagnosis; being misdiagnosed; shortages of medical specialists who can provide treatment for rare diseases; and the lack of therapies and medication that are used by doctors to treat rare diseases; d. There is a significant link between rare disease and the coronavirus 2019 (COVID-19) pandemic which heightens the importance of the establishment of an advisory council to examine the issues that affect persons with rare diseases in the State. Many people who live with rare diseases are immunosuppressed and have respiratory and neurologic issues that make the consequences of the virus much more severe for them; e. Additionally, those with rare diseases rely on the health care system much more than those who do not have chronic and rare conditions. In as much as they go to their physicians' offices, medical testing sites, and hospitals more often than most, their risk of exposure to the COVID-19 virus is much greater; f. People who live with rare diseases are impacted by potential shortages of life-saving medications and supplies due to changes in supply chain resulting from the COVID-19 pandemic. People with rare diseases also rely on the support of their families and home health aides, and because of the social distancing and quarantining, the pandemic puts them at risk of not having the support they need in accessing services and treatment; g. Researchers have made considerable progress in developing diagnostic tools and treatment protocols for rare diseases and discovering methods of prevention. However, much more remains to be done in the search for new therapeutics and in understanding the link between rare disease and pandemics, and h. It is therefore an appropriate public policy for the State of New Jersey to establish an advisory body, whose membership would be comprised of qualified professionals and persons living with rare diseases, that would be tasked to educate medical professionals, government agencies, and the public about the importance of rare diseases as an important public health issue, and to encourage research in the development of new treatments for rare diseases. L.2021, c.135, s.1.