How rare is a rare disease?

How rare is a rare disease?

February 15, 2016

February 15, 2016

In an article featured on the Center for Evolution and Medicine's new EvMed blog, ASU assistant professor Melissa Wilson Sayres shines the spotlight on so-called orphan diseases, diseases so rare that they may affect fewer than 1 in 2,000 people. But as she points out, when one works out the math, those with rare diseases may not have to feel so alone anymore in our increasingly growing and connected world. 

"There are more than 7000 rare diseases, also called orphan diseases. How does one decide the threshold for considering a disease to be rare? It depends. One study found more than 296 definitions of “rare disease.” In Europe, a disease is typically considered rare if it affects fewer than 1 in 2000 people, but the most widely used definitions place rare diseases as those that affect 4 or 5 out of 10,000 people. But in today's world of population growth and virtual communities, in many ways rare diseases are becoming common. 

"If we could sequence the DNA of every person alive on the planet, how many people would have a mutation at the exact same position in the genome? Or, related to our original question, how many families do we expect to have a family member with the same orphan disease (assuming it is caused by a single mutation)?"

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And for all things evolutionary medicine and social media, you can follow the center on Twitter @evmedasu or researcher Wilson-Sayres

 

 

Written by: Melissa A. Wilson Sayres