Madeline Zupan and Jack Kenney | February 22, 2017
The University of Notre Dame – in conjunction with the Boler-Parseghian Center for Rare and Neglected Diseases – hosted its annual Rare Disease Conference. This was a two-day event covering both laboratory science and benchtop research discoveries in addition to patient outreach and rare disease community-building. The unique opportunity to mix cutting edge research alongside first-hand experience from rare disease patients and their family was an incredible experience for the students, faculty, and members of the Notre Dame community.
There are over 7,000 distinct rare (also known as “orphan”) diseases, affecting nearly 1 in 10 Americans. Because orphan diseases are so variable, diagnosis and treatment is challenging to primary care physicians. Many orphan disease patients must consult with specialists, but due to low disease prevalence, the number of specialists is quite limited. Though rare diseases are classified as conditions with prevalence of less than 200,000 in the United States, often times there may only actually be a few hundred or thousand suffering from the disease. Not only does this result in little academic or commercial research and development efforts directed towards specific rare diseases, but also results in patients and their families feeling isolated or alone in their fight. This is why events such as this Rare Disease Conference at Notre Dame are imperative for showing the community all those advocating on their behalf.