Written by Anirudh Koneru
Published on 7/15/2020
In the last century, innovations in technology and health practices have revolutionized the healthcare industry, impacting everything from diagnosing and treating diseases to preventing them. Research methods have improved, the standards of care are perpetually rising, and the life expectancy of the average person, as a byproduct of this, has never been higher.
But not all health concerns have been met with equal enthusiasm. While conditions such as heart disease and cancer have gotten the bulk of the attention and funding, other diseases are often ignored or cast aside as many believed that they do not affect enough people to be worth the time and money required to develop innovations for them. These conditions, collectively known as rare diseases, are not as uncommon as they are depicted to be, and the fact that they affect a small portion of the population does not mean that these conditions do not deserve attention.
What are rare diseases?
As defined by the Orphan Drug Act of 1983, a rare disease is any condition that affects fewer than 200,000 individuals in the United States. By this definition, there are over 7,000 rare diseases in America, collectively affecting 25 to 30 million Americans. By percentage, that reaches nearly 9% of the total American population. Rare diseases consist of a broad variety of disorders, including infectious diseases, cancers, and congenital defects. Though the cause of most rare diseases is thought to be genetic, many are idiopathic, meaning that the cause is unknown.
Why are such diseases neglected?
Because each individual disease affects fewer than 200,000 individuals in the United States, drug companies and scientists are less inclined to conduct research on these diseases. This is because the cost of researching and developing these drugs would be extremely high, and there would be no return profit for doing this because so few individuals would even require this treatment. Furthermore, because these conditions affect so few individuals, there is not nearly as much information as there is for other conditions, making research even more difficult.
However, many steps have been taken in an attempt to counteract these difficulties. For example, the Orphan Drug Act of 1983 incentivized the research and development of drugs and treatments dedicated to rare diseases. Furthermore, the National Institute of Health, or NIH, funds and advocates for research for rare diseases, specifically the NCATS, or the National Center for Advancing Translational Sciences, and has various sub departments dedicated to rare diseases. These programs are listed below and linked to their respective source.
What can you do?
There are many ways in which you can help the rare disease community, including advocating, raising awareness, and fundraising for rare diseases. Many organizations, such as NORD (National Organization for Rare Disorders) raise funds for rare diseases, and provide information on different diseases. NORD also has a feature called the Rare Action Network or RAN which you can join to receive alerts and information about rare disorders (click here to join). You can also join our organization, Shaping Foundations, by clicking the join tab above, and help contribute to the effort directly. Furthermore, by reading articles like this one and sharing them, you help to spread awareness and make a lasting impact on the rare disease community. By staying informed, you make a bigger difference than you may realize.
Want more information?
Visit the websites listed below for more information and resources.
List of rare diseases: https://www.rarediseasesnetwork.org/diseases
NORD: https://rareaction.org/
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Sources
Rare Diseases Clinical Research Network. (n.d.). Find Diseases We Study. Retrieved July 13, 2020, from https://www.rarediseasesnetwork.org/diseases
Global Genes. (2019). RARE Facts. Retrieved July 13, 2020, from https://globalgenes.org/rare-facts
Madhusoodanan, J. (2016, August 31). The Challenges of Rare-Disease Research. Retrieved July 13, 2020, from https://www.the-scientist.com/careers/the-challenges-of-rare-disease-research-32928
NIH. (2017, November 30). FAQs About Rare Diseases. Retrieved July 13, 2020, from https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
Global Genes. (2019). Global Genes: Allies in Rare Disease. Retrieved July 13, 2020, from https://globalgenes.org/
National Center for Advancing Translational Sciences (NCATS). (2020, May 07). Rare Diseases Clinical Research Network (RDCRN). Retrieved July 13, 2020, from https://ncats.nih.gov/rdcrn