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Nanopore adaptive sequencing — a recently developed technology that determines the sequence of a strand of DNA by measuring changes in electrical activity as the DNA strand is fed through a tiny opening — can be used to diagnose Angelman syndrome and the related condition Prader-Willi syndrome (PWS), a…

In children with Angelman syndrome, the parts of the brain that recognize words show activity similar to that of children with typical development, but lesser activity is seen in brain regions needed to assign meaning to words, a study suggested. The study, “Typical and atypical neural…

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,…

The Foundation for Angelman Syndrome Therapeutics (FAST) has given a gift of $5 million to establish the Rush F.A.S.T. Center for Translational Research, intending to train physicians to run clinical trials and deliver therapies requiring specialized delivery and care. Reported to be the first-of-its-kind, the center will be directed…

The Foundation for Angelman Syndrome Therapeutics (FAST) has awarded a research grant to a project testing a new type of therapeutics — a potential disease-modifying compound called Syn — for Angelman syndrome. According to a FAST press release, the grant was awarded to John Marshall, PhD, a…

A “wide spectrum” of vision impairments can be common in people with Angelman syndrome but may not be fully recognized, causing further difficulties in their cognitive and functional development, a study reported. Based on the findings, researchers recommend that children diagnosed with Angelman undergo routine vision assessments so that early…

Behavioral assessments by parents of children with Angelman syndrome and other genetic neurodevelopmental disorders substantially differed from those reported by clinicians, a study revealed. Appraisal of hyperactivity showed the highest agreement between parents and professionals, whereas self-injury behaviors showed the poorest agreement. These findings have implications for clinical trials,…

In a mouse model of Angelman syndrome, male and female mice show similar responses in tests of memory and fear, a study found. “Our results support the general conclusion previously reported in the field that there is no clear sex difference in fear-conditioning learning in [Angelman] mice,” the researchers…

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…

Note: This story was updated Oct. 26, 2022, to correct that John Schlueter became a member of the Foundation for Angelman Therapeutics board months after learning about the foundation. It’s also been corrected to note that the investigational treatment GTX-102 targets and inhibits…