News

Shire, Microsoft and Rare Diseases Europe have formed an alliance to try to  accelerate the time it takes to diagnose children with rare diseases such as Angelman syndrome. Meanwhile, Shire said it is holding or taking part in 40 events on Rare Disease Day Feb. 28 to raise…

FAST has started a for-profit company to try to accelerate the development of a potential cutting-edge treatment for Angelman syndrome. GTX-101 is an antisense therapy that works to silence gene expression by binding to the RNA the gene produces. Gene expression is the process by which information from a gene…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

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…

Specific eye conditions may be a clue to diagnosing Angelman syndrome in patients who also have abnormalities consistent with other diseases, a case report suggests. The report, “A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing,” was published in Case Reports in Ophthalmology. Angelman…

A specific behavior in an Angelman syndrome mouse model that could help researchers model and possibly predict cognitive problems in patients has been identified in a study. The research, “Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome,” was published in…

To mark Feb. 15, International Angelman Day, the Angelman Syndrome Foundation (ASF) has compiled a list of f 15 simple ways to help raise awareness for Angelman syndrome worldwide and in your hometown: Ask a local pediatrician if he or she is aware of Angelman syndrome. Help doctors learn about…

David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…

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…

For the first time, researchers have characterized the nerve cell size and electrical activity in a key auditory area of the brain using a UBE3A gene mouse model. The findings may explain why those with Angelman syndrome are more susceptible to seizures. The study, “Enhanced Transmission at the Calyx…