Angelman syndrome is a rare disease that disrupts the normal development and function of cells, particularly in the nervous system, leading to severe developmental delays and learning disabilities.
Angelman syndrome is caused by a large deletion of the region of the maternal chromosome that contains UBE3A, or by a DNA sequence change (mutation) in the UBE3A gene inherited from the mother.
Colin Farrell shared an update on his eldest son James, who has a genetic disorder called Angelman syndrome, in a new interview that aired Monday on "Good Morning America". Farrell said his son's ...
Colin Farrell opens up about son James' life with Angelman syndrome Angelman syndrome, a rare neurogenetic disorder, affects 1 in 12,000 to 20,000 people. It impacts a person's nervous system ...
We each get two copies of every gene - one copy from each of our parents. But what happens when one of these genes has been "turned off", or imprinted, and the remaining gene is defective?
The global Phase 3 Aspire study will enroll approximately 120 children ages 4 to 17 with Angelman syndrome with a genetically confirmed diagnosis of full maternal UBE3A gene deletion.