Author Archives: Patricia Inacio PhD

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to GTX-101, GeneTx Biotherapeutics’s investigational compound for the treatment of Angelman syndrome. GTX-101, which is GeneTx’s first drug candidate, is an antisense therapy that can silence gene expression by binding to the RNA molecule that converts the gene into a…

Children and young adults with Angelman syndrome rely on a broad set of tools for communication, including speech, facial expressions, gestures, and symbols, a study suggests. The findings support the notion that teaching can help them improve what scientists call expressive communication skills, which go far beyond speech. The study,…

A mouse model for Angelman and Down syndrome has revealed deficits in touchscreen learning, suggesting that assessing this type of outcome may help identify effective therapies. The study, “Touchscreen learning deficits in Ube3a, Ts65Dn and Mecp2 mouse models of neurodevelopmental disorders with intellectual disabilities,” appeared in the journal…

Epileptic seizures contribute more than previously thought to autism symptoms in patients with Angelman syndrome, according to researchers. The study, “Effect of epilepsy on autism symptoms in Angelman syndrome,” was published in the journal Molecular Autism. Autism and epilepsy often co-occur in patients with Angelman syndrome, but…

Patients with epilepsy show a pattern of robust brain structural abnormalities, including alterations in the thickness and volume of the brain’s gray matter. The findings, stemming from the largest neuroimaging analysis of epilepsy to date, may be helpful for people with Angelman syndrome, because epilepsy affects more than 80 percent of…

Deleting the Ube3a gene alters the social behavior of mice in a way that may mimic that of humans with Angelman syndrome, a study suggests. The research, “Hypersociability in the Angelman syndrome mouse model,” appeared in the journal Experimental Neurology. Humans inherit two copies of the Ube3a gene,…

Researchers have developed a method to study the enzymes involved in the disposal of proteins that are faulty or no longer needed by cells. The research will help scientists investigate the mechanism of diseases where the disposal system is functioning badly, such as it does in Angelman syndrome, which may…

University of California researchers have developed a touchscreen test for mice with Angelman syndrome that they believe will shed additional light on learning disabilities stemming from the disease. It is one of a batteries of tests they are giving the animals to obtain a greater understanding of Angelman’s effect on…

The U.S. Food and Drug Administration (FDA) awarded a fast track designation to Ovid Therapeutics’ OV101 for the treatment of Angelman syndrome. The designation allows for expedited development and review of therapeutics for serious diseases with high unmet medical need. “This designation is an important milestone for both Ovid…

Ovid Therapeutics presented data from several studies that support the clinical development of the investigational therapy TAK-935/OV935 as a potential treatment for developmental and epileptic encephalopathies. These results are particularly significant for Angelman syndrome patients, 85 percent of whom suffer from some form of epilepsy. The findings from…