News

Severe seizure events known as status epilepticus are common in people with Angelman syndrome, especially during childhood, a new review study found. Researchers noted that status epilepticus often causes subtle symptoms that may be overlooked by caregivers and clinicians, highlighting the importance of correctly identifying and promptly treating these…

The response to acute stress may be altered in Angelman syndrome (AS), a preclinical study suggests. In a mouse model of the disorder, researchers found that the brain’s response to acute stress hormones (glucocorticoids) was enhanced. This was reflected by a more pronounced pattern of gene activity in response…

Organizations around the world will come together Feb. 15 to observe International Angelman Day (IAD), a global effort to raise awareness, honor those living with the rare neurological disease and commemorate those who have passed away. The annual initiative also seeks to encourage fundraising and support research for…

A novel treatment approach based on zinc-finger DNA-binding proteins, designed to activate the silenced paternal UBE3A gene, successfully eased the signs and symptoms of Angelman syndrome in a mouse model. The strategy also demonstrated efficacy in brain cells derived from an Angelman patient, showing that it can be translated…

Changes in the levels of gut bacteria — the gut microbiome — are evident in small and larger animal models of Angelman syndrome, and these alterations may be related to patients’ gastrointestinal symptoms, a study reported. A notable difference between disease models and their healthy counterparts was seen in…

Using antisense oligonucleotides (ASOs), that is, strings of genetic material, to target a molecule known as UBE3A-ATS rescued abnormal brain rhythms and sleep patterns in a mouse model of Angelman syndrome.  Although treatment effects were found in both juvenile and adult mice, they were more pronounced in…

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…