Author Archives: Marisa Wexler, MS

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…

Children with Angelman syndrome respond to different types of rewards to promote learning, and the preferred type may vary based on the genetic cause, a new study indicates. The study, “Refining the Behavioral Phenotype of Angelman Syndrome: Examining Differences in Motivation for Social Contact Between Genetic Subgroups,”…

In-person social engagement is more important for fostering imitative behaviors in children with Angelman syndrome than in typically-developing children, a new study suggests. The study, “Imitation in Angelman syndrome: the role of social engagement,” was published in Scientific Reports. People with Angelman syndrome (AS) typically have abnormal…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…