News

Nutrition is an important but under-discussed aspect of care in Angelman syndrome (AS), according to a case report that described the use of a gastronomy button in a child with the disorder who also had a swallowing dysfunction. The report was published in Lifestyle Genomics and titled “…

A clinical trial is evaluating the safety and tolerability of a nutritional formulation containing the ketone beta-hydroxybutyrate (BHB) as a treatment to help control seizures in children with Angelman syndrome. More information about the trial (NCT03644693), called Nutritional Formulation for Angelman Syndrome (FANS), is available here. The…

Fertility treatments could make babies more prone to genetic errors that lead to the development of Angelman syndrome and other disorders, an early study in mice has found. Contrary to what was anticipated by researchers, older maternal age did not increase the frequency of such problems in mice, suggesting…

Despite being relatively healthy, adults with Angelman syndrome should be carefully monitored, particularly for weight control, vision and gastrointestinal issues, behavioral and sleep problems, and epilepsy, a study suggests. According to its authors, findings from this study, reported to have enrolled the largest and oldest group of adults with…

Clinicians should consider mosaic Angelman syndrome in the differential diagnosis of people who show milder symptoms of the disorder, a study suggests. The study, “Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome,” was published in Molecular Genetics & Genomic Medicine. Angelman syndrome (AS) is…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

As part of her medical training, North Carolina pediatrician Elizabeth Jalazo had studied a little about Angelman syndrome. “I knew enough about it to answer a board question, but I didn’t know the complexity of the disorder,” she said. “I’m sure most general pediatricians would share the same sentiment.”…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

Terry Jo Bichell, whose son’s Angelman syndrome inspired her to go back to college at the age of 49 and get a PhD in neuroscience, has long advocated for families affected by the rare neurological disease. But now, she’s branching out. The Tennessee scientist and mother of five…

Blocking the activity of sodium-potassium ATPase, an enzyme that is essential in maintaining ion balance in all types of cells, can restore calcium dynamics and other abnormal neurological features in a mouse model of Angelman syndrome (AS), a study has found. The study, “α1-Na/K-ATPase inhibition rescues aberrant…