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Innovation at the Margins: Rare Disease Research

Posted by | 2:30pm on Wednesday, June 22, 2011
pills and tablets scattered on table

Most of our medical science comes from people with rare diseases 

Rare disease research is on the rise, and that’s good news for the 25 million rare disorder patients in the U.S. In fact, it’s good news for all of us, because the insights that we gain from this research can lead to pharmaceutical innovations that extend beyond the rare sphere, affecting the medical industry as a whole. By focusing on a few rare patients, we have the potential to change the lives of many.

Since the Orphan Drug Act was passed in 1983, the number of rare disorder treatments that are available has been steadily increasing every year. In addition to increasing awareness of the rare disease community, this high level of activity has led to pharmaceutical discoveries and advancements in the treatment of other more common diseases.

A Broad Impact on Health Care
There are numerous examples that illustrate the influence rare disease research has on health care. Alpha-1 antitrypsin deficiency (AATD) is a rare lung disorder that affects less than 100,000 people in the U.S. However, as scientists learned more about AATD, it was discovered that the alpha-1 antitrypsin protein could potentially be used to treat Type 1 diabetes, a disease that affects tens of millions of people worldwide. The FDA has since granted regulatory clearance for the protein to be evaluated in clinical trials.

In another case, scientists made a breakthrough in the way we understand the process of aging while researching a rare genetic disease called progeria. This condition, which causes young children to age at seven times the normal rate, is reshaping the way doctors understand the aging and wearing down of cells. The insights gained from this research could prove to be valuable in treating age-related illnesses such as cancer or heart disease.

Dr. Timothy Coté, former director of the FDA’s Office of Orphan Products Development, speaking at the 2010 Rare Disease Summit emphasized this concept:

Most of our medical science comes from people with rare diseases. We learn what aging is through Progeria. We learn that the DNA can repair itself through xeroderma pigmentosa. We learn what normal hemoglobin that we all have is through people with hemoglobinopathies… These people with rare disorders form the very fundamental basis of our materia medica. They’re what we studied in school. They’re what we understand in treating all disease that we ever reach. So somehow we need to communicate that – that these are not just odd things that happened to some people, but this collection of rare disorders really are the essence of what medicine is for all people.”

It is not surprising that rare disease research has an impact on medical progress in general. By learning more about the genetic and biologic causes of these disorders, physicians have the opportunity to explore other arenas of medicine with new tools and new perspectives.

What Does the Future Hold?
Since 1983, more than 350 rare disorder treatments have been approved for patient use, and this high level of productivity continues to rise. Today the number of products in development that are categorized as “orphan drugs” is 460, a figure that has more than doubled since 2000. Additionally, the International Rare Disease Research Consortium held a meeting in early 2011 to discuss research avenues and opportunities for collaboration. They set a goal to deliver 200 new therapies for rare diseases and diagnostic tools for most of the more than 7,000 rare diseases by 2020.

More and more people are starting to recognize the importance of rare disorder research. If we continue to make progress in developing treatments for these disorders, the next decade could prove to be hugely beneficial to people affected by rare diseases and to the entire medical industry.

What do you think?

(Image courtesy of Taki Steve on Flickr).

About Justin McLeod

As a Content Developer, Justin assists the content team with defining a consistent and engaging tone for healthcare professional and patient audiences, creating content, conducting audience research and upholding regulatory compliance. Previous to joining Siren, Justin honed his content writing and editorial skills while working in both educational and medical fields. He holds a bachelor’s degree in English from the University of Illinois.

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