News

New instruments for researching Angelman syndrome should be developed to make sure patient outcomes are relevant and properly registered and catalogued in clinical trials, a new study suggests. Current clinical outcomes assessments (COAs) that measure a patient’s symptoms, overall mental state, or the effects of a disease or condition on…

The Angelman Syndrome Foundation has awarded a $200,000 research grant to investigate the use of CRISPR-Cas9 gene editing technology as a therapy to rescue the faulty gene underlying the disease. A rare but serious disease, Angelman syndrome is caused by the absence or malfunction of the UBE3A gene. We inherit two…

PTC Therapeutics will acquire Agilis Biotherapeutics and its gene therapy program for Angelman syndrome. The transaction is expected to be completed in a few months. Agilis is a biopharma focused on developing gene therapies for rare central nervous system (CNS) diseases, such as Angelman syndrome and Friedreich’s ataxia. PTC is a…

Two organizations that specialize in Angelman syndrome have scheduled back-to-back conferences at the University of North Carolina (UNC) at Chapel Hill early next month to discuss emerging research on therapies for the disease. Both events take place at the Carolina Inn, which is on the UNC campus in Chapel…

A process known as “mosaic imprinting” may be responsible for milder symptoms observed in patients with atypical Angelman syndrome, according to a case series on three young patients. The study, “Atypical Angelman Syndrome Due to a Mosaic Imprinting Defect: Case Reports and Review of the Literature” was…

Patients with Angelman syndrome have significant volume loss of the brain’s gray matter, possibly contributing to motor dysfunction, a study suggests. The study, “From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study,” was published in PLOS One. Angelman syndrome is…

UBE3A, the protein underlying Angelman syndrome, is crucial for the maturation and adaptability of the visual circuits in the brain, according to a recent review study. The study, “Common Defects of Spine Dynamics and Circuit Function in Neurodevelopmental Disorders: A Systematic Review of Findings From in…

A molecular technique, known as chromosomal microarray analysis, enables early diagnosis of several genetic neurodevelopmental disorders — including Angelman syndrome — and improved treatment management, according to a Chinese study. The study, “Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders,” was…

The U.S. Food and Drug Administration (FDA) has approved Epidiolex to treat Dravet and Lennox-Gastaut syndromes, making history as the first approved therapy for Dravet, as well as the first marijuana-derived treatment to receive FDA approval for any indication. The FDA’s action also may bring hope to patients with…

Dietary supplementation with ketone esters significantly decreased the frequency of seizures and improved behavior, learning, memory, and overall function in a recent mouse study of Angelman syndrome. The study, “Ketone ester supplementation attenuates seizure activity, and improves behavior and hippocampal synaptic plasticity in an Angelman syndrome mouse model,” was…