Paula M. Evans is Chairperson of the Foundation for Angelman Syndrome Therapeutics (FAST). FAST was founded in 2008 with a mission to cure Angelman syndrome. In this video, Paula discusses her family's diagnostic journey with Angelman syndrome.
Angelman syndrome is a rare genetic disorder affecting roughly 500,000 people worldwide. Patients with Angelman syndrome generally experience developmental delays, intellectual disabilities, extensive speech impairment, issues with movement and balance, epilepsy, and abnormal sleep-wake. Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements.
Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A, located on chromosome 15. UBE3A gene provides instructions for making a protein called ubiquitin protein ligase E3A. Studies suggest that ubiquitin protein ligase E3A plays a critical role in the normal development and function of the nervous system. Both copies of UBE3A are active in several areas of the body; however, the brain has only one activated copy of the gene, which is inherited by the mother. If this copy of the gene is randomly deleted or mutated, the body cannot call upon the father’s contributed UBE3A in this area of the brain to take its place. When this happens, the signs of Angelman syndrome will emerge.[3] In very rare cases (1%), an infant with Angelman syndrome can inherit both chromosome 15 copies by the father, meaning that the mother’s copy is absent and yielding the same result.
