News

Agilis Biotherapeutics, which develops innovative DNA therapeutics for rare diseases of the central nervous system, presented the latest results of its gene therapy program for Angelman syndrome at two recent international conferences. During the annual meeting of the European Society of Gene and Cell Therapy (ESGCT), Dr. Kevin…

A test that assesses a fetus’s risk of having a chromosome disorder can help rule out the possibility that a baby will develop Angelman syndrome, a study reports. The test, which doctors began using in 2011, is called a cell-free fetal DNA (cffDNA) screening. Researchers published their article in the American…

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

Angelman syndrome (AS) patients have a lower preference for social stimuli than typically developing individuals, a new study shows. Also, AS patients do not show increased pupil dilation in response to social scenarios that is seen in healthy subjects. The study resulted from a collaboration between several U.S. institutions: Cincinnati Children’s…

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…

Decreasing UBE3A levels has a profound effect on the expression of multiple other genes, mostly due to chemical modifications in the DNA, a new study found. The research shows that loss of UBE3A-affected genes were associated with autism, decreased motor and cognitive activity, and energy expenditure, providing a new link between…

Arc-dependent synaptic response differs in a mouse model of Angelman syndrome (AS) from that seen in healthy mice, and may be related to the cognitive problems patients with this disease experience, researchers report. The study, titled “Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons…

Ovid Therapeutics will present new data from its lead investigational drug, OV101, to treat neurodevelopmental symptoms of diseases like Angelman syndrome and Fragile X syndrome, at the 18th International Fragile X and Related Neurodevelopmental Disorders Workshop. The conference begins today in Saint-Alexis-des-Monts, Quebec. On Oct. 15, Dr. Brett Abrahams, Ovid’s director and head…

Agilis Biotherapeutics said its Angelman syndrome gene therapy development is on track, with initial animal studies making way for tests needed before the therapy can be tried in humans. The Cambridge, Massachusetts, company announced that it plans to choose a lead candidate before consulting the U.S. Food and Drug Administration…

Two experts on Angelman syndrome will be among 80 speakers at this month’s Rare Disease & Orphan Products Breakthrough Summit in Washington. The two-day event, now in its sixth year, is hosted by the nonprofit National Organization for Rare Disorders (NORD). It is expected to attract 550 to 600…