Author Archives: Marisa Wexler, MS

Lower the levels of a small RNA molecule called miR-134 was shown to protect against seizures for both old and young mice in a model of Angelman syndrome in a study. The study, “AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome,” was…

Mice with Angelman syndrome (AS) show clear abnormalities in walking patterns, and assessing these patterns may be useful for measuring the efficacy of potential therapies, a new study indicates. “Gait analysis proved a reliable, translational assay that can accomplish within-subject lifespan development, regression, progression and/or decline without confounding test–retest…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

An international team of experts has published a comprehensive document detailing the current best strategies to care for people with Angelman syndrome. The document, “A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome,” was published in Molecular Genetics & Genomic Medicine. To…

Screenings should be conducted for novel mutations in people with Angelman syndrome-like disease — those with clinical features of Angelman but whose genetic cause remains unknown — say researchers who recently identified 10 new variants. “A high rate of diagnosis is essential since it contributes to more appropriate clinical…

A dietary supplement meant to mimic the effects of a ketogenic diet — known to reduce seizure frequency in patients with Angelman syndrome — was well-tolerated by children with the neurological disorder, according to data from a small clinical trial. The trial met its primary goal of assessing the…

The total cost of raising a child with Angelman syndrome (AS) is almost $100,000 AUD — more than $70,000 USD — per year, according to an Australian study. The data suggest that, in Angelman and other conditions that cause intellectual abnormalities, less-severe cognitive impairment is associated with less costs.

Researchers have reported the case of a teenager with Angelman syndrome (AS) in Brazil who developed severe COVID-19 but recovered after nearly three weeks in intensive care. This is the first published report of COVID-19 in a person with Angelman, according to the investigators. While it is impossible to…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

A newly funded research project seeks to create cellular models that can be used to study two of the less common types of genetic abnormalities that cause Angelman syndrome. The project, funded by the Foundation for Angelman Syndrome Therapeutics (FAST), will investigate uniparental disomy (UPD) and imprinting errors…