Familial Advanced Sleep Phase Syndrome:Exactly What is a Disease Anyway?

Lessons in Clear Thinking About Diagnosis and Labels

The news is not making much of a splash in the Blogosphere.  Scientists at the Howard Hughes Medical Institute, working on a condition known as Familial Advanced Sleep Phase Syndrome, have discovered the cause.  It is a mutant gene known as CKIdelta.  Their press release is here. 

FASPS is a condition in which people tend to fall asleep early in the evening, say around 5 PM, then awaken early.  They are healthy otherwise, and they sleep a normal amount of time.  For example, the person who goes to sleep every day at 5 PM may awaken every morning at 3 AM. 

In this post, I discuss the nature of FASPS and use that as a specific example, to illustrate certain general concepts about the diagnosis of illness, then explore what a diagnosis means in medical settings, as well as in society at large.  Continue reading here.