A very large deletion on chromosome 15 — the largest yet reported — was identified as the underlying cause of a severe presentation of Angelman syndrome (AS) in a 19-year-old man, according to a recent case report. While deletions on chromosome 15 are the most common cause of AS,…
People with Angelman syndrome (AS) can demonstrate an ability to comprehend verbal communication as accurately as typically developed children, but tend to process the information slower, a study found. This comprehension was evaluated using a looking-while-listening (LWL) test, designed to evaluate whether a person’s eyes will fixate on an…
A telehealth-based training program for parents of children with Angelman syndrome helped them in using naturalistic communication interventions (NCI), set around daily at-home activities with the child, a study reported. Better use of an NCI, which is intended to promote social engagement and language development through play and daily routines,…
Ultragenyx will continue clinical development of GTX-102, an investigational treatment for Angelman syndrome, after acquiring GeneTx Biotherapeutics — the company that was developing it — in a $75 million deal earlier this month. The therapy was originally developed in the laboratory of Scott Dindot, PhD, in the…
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