Author Archives: Marta Figueiredo PhD

Brain Wave Abnormalities Tied to Symptom Severity, Age at Seizure Onset

Stronger brain wave abnormalities are significantly associated with more severe cognitive, motor, and communication symptoms and earlier seizure onset in children and adolescents with Angelman syndrome (AS), a study shows. These findings support brain activity abnormalities as a core Angelman feature, and they support the use of electroencephalography (EEG) as…

ORCA, Reliable Measure of Communication for Angelman, in Early Use

A reliable tool for parents or caregivers to judge the quality of nonverbal communication in Angelman syndrome patients is now available, according to the Foundation for Angelman Syndrome Therapeutics (FAST), which supported work that lead to its development. Called Observer-Reported Communication Ability (ORCA), the tool grew from a partnership between FAST and…

CRISPR-Cas9 Gene Therapy Shows Promise in Preclinical Angelman Study

A CRISPR-Cas9-based gene therapy designed to increase the production of ubiquitin protein ligase E3A (UBE3A) — the enzyme lacking in Angelman syndrome — partially or completely corrected physical and behavioral deficits in a mouse model of the disease. The effects of a single administration of the therapy, when delivered before birth, were…