Angelman Syndrome †

Student: Stephanie Sorbara*
Mentor: Suzanne Deschênes
Major: Biology 

Angelman Syndrome (AS) is a neurogenetic disorder that is classically characterized by excessive laughter and a happy demeanor. Aggression, sleep disorders and epilepsy are other phenotypes associated with this disorder as well. Both happy and aggressive demeanors have been expressed in five different consumers at The Kennedy Center, a site which offers programs and services to individuals with varying disabilities. Research proposes several different genetic mechanisms responsible for the development of AS, each of which impact the function of the UBE3A gene located in the 15q11-13 region on chromosome 15. Additionally, from an evolutionary perspective, Emotion Signaling Theory and Kinship Theory have been used to provide another explanation for the observed behaviors of those possessing Angelman Syndrome.

*Honors Senior
† Special Honors Project