News

Neuren Pharmaceutical’s candidate NNZ-2591 has shown positive effects in a mouse model of Angelman syndrome, treating all symptoms of the disease, the company announced. These results were used to submit an Orphan Drug application to the U.S. Food and Drug Administration (FDA). Angelman syndrome…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

Spaced training interventions may be used to minimize learning impairments associated with neurological disorders, including Down and Angelman syndrome, a mouse study has found. The results, “Spaced training improves learning in Ts65Dn and Ube3a mouse models of intellectual disabilities,” were published in Translational Psychiatry. In psychology…

Behavioral tests based on how well a child performs specific tasks may be promising tools for evaluating memory and motor abilities in those with Angelman syndrome (AS) and be of particular use in clinical trials, a pilot study reports. The study, “Using Behavioral Approaches to Assess Memory, Imitation and…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Treatment with cannabidiol reduces seizures and abnormal electric brain activity in mice with Angelman syndrome (AS), supporting its use as an anti-seizure treatment for patients, a study finds. The study, “Cannabidiol attenuates seizures and EEG abnormalities in Angelman syndrome model mice,” was published in bioRxiv, a…

The European Commission (EC) has granted orphan drug designation to Ovid Therapeutics’ OV101 for the treatment of Angelman syndrome. The therapy is being tested in the Phase 3 NEPTUNE trial that soon will begin enrolling participants. Orphan drug status is intended to encourage therapies for rare and serious diseases,…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Anxiety, especially separation distress, is very common among older children with Angelman syndrome and should be taken into consideration by doctors to improve both their quality of life and that of their family members, a study says. Findings of the study “Anxiety-associated and separation distress-associated behaviours in…