News

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

Computer analysis of the faces of Angelman syndrome patients found distinct facial features that changed from childhood to adulthood, a study has found. These differences in facial structure may help identify and diagnose people with the condition, the researchers said. The study, “Investigation of age-related facial…

A ketogenic diet safely and rapidly controlled treatment-resistant prolonged non-convulsive seizure activity in two girls with Angelman syndrome caused by a new mutation in the UBE3A gene, a study shows. These therapeutic benefits were observed before the detection of ketone bodies, the fat-derived molecules produced by the liver to…

A diet enriched with a nutritional formula supplemented with ketones — natural metabolites that arise from the breakdown of fat — may improve fine motor skills, memory, and cognition in children with Angelman syndrome, according to the results from a small trial. Funded by the Foundation for Angelman…

Researchers brought a message of hope for the Angelman syndrome community as they discussed advances in treatment and scientific knowledge at the recent 2021 FAST Global Science Summit and Gala in Austin. Hosted by the Foundation for Angelman Syndrome Therapeutics (FAST), the annual event is an opportunity for members…

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 first patient in the U.K. has been dosed in the resumption of a Phase 1/2 clinical trial evaluating the safety of the gene therapy GTX-102 in children and adolescents with Angelman syndrome. The open-label study (NCT04259281), known as KIK-AS, is being run at Oxford University and is also underway…

The National Organization for Rare Disorders (NORD) asks Americans to plan ahead to participate in the Light Up for Rare campaign to raise awareness of rare diseases. NORD is the U.S. sponsor for Rare Disease Day on Feb. 28. The annual awareness day spotlights approximately 7,000…

Stronger brain wave abnormalities are significantly associated with more severe cognitive, motor, and communication symptoms and earlier seizure onset in children and adolescents with Angelman syndrome (AS), a study shows. These findings support brain activity abnormalities as a core Angelman feature, and they support the use of electroencephalography (EEG) as…

Angelman syndrome families in the United Kingdom may now request financial support for items — like tablets or adaptive equipment — that could improve a patient’s life quality under an expansion of the Angelman Syndrome Foundation (ASF) Family Fund. The ASF fund was opened in 2019 to help…