Author Archives: Marta Figueiredo PhD

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…

Chromosomal Diagnostic Test Allows for Early Diagnosis, Better Treatment Planning in Angelman Patients

A molecular technique, known as chromosomal microarray analysis, enables early diagnosis of several genetic neurodevelopmental disorders — including Angelman syndrome — and improved treatment management, according to a Chinese study. The study, “Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders,” was…