Author Archives: Marta Figueiredo PhD

A reliable tool for parents or caregivers to judge the quality of nonverbal communication in Angelman syndrome patients is now available, according to the Foundation for Angelman Syndrome Therapeutics (FAST), which supported work that lead to its development. Called Observer-Reported Communication Ability (ORCA), the tool grew from a partnership between FAST and…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

A CRISPR-Cas9-based gene therapy designed to increase the production of ubiquitin protein ligase E3A (UBE3A) — the enzyme lacking in Angelman syndrome — partially or completely corrected physical and behavioral deficits in a mouse model of the disease. The effects of a single administration of the therapy, when delivered before birth, were…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Sleep disturbances in people with Angelman syndrome may be at least partly associated with iron deficiency, according to a small study in the U.S. The data also showed that supplementation with the mineral, which also is naturally present in many foods, improved the sleep quality of children…

The presence of a common genetic variation in women may increase the risk of deficient genomic imprinting and the development of Angelman syndrome in their children, a study shows. The researchers emphasized, however, that only rare cases of Angelman are caused by imprinting defects, and that the risk…

Activating the insulin‐like growth factor 2 receptor, or IGF-2R — a cell surface receptor involved in protein trafficking and degradation within cells — partially or completely corrected cognitive, motor, and behavioral deficits in a mouse model of Angelman syndrome, a study shows. Notably, these benefits were observed with the…

Newer anti-epileptic medications — such as Keppra (levetiracetam), Lamitcal (lamotrigine), and clobazam — as well as low glycemic index treatment may be more effective in reducing epileptic seizures and associated with fewer side effects than older ones — namely valproic acid and clonazepam…

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…