News

Boston-based FDNA has launched a new global initiative to promote medical research collaborations and to develop new precision approaches for diagnosing and treating disease, including Angelman syndrome, the company said. The initiative, called Genomics Collaborative, uses computer analysis and artificial intelligence technologies to integrate genetic information with the physical and biological characteristics…

The loss of a fundamental protein in the brain may explain how genetic changes in Angelman syndrome lead to the neurological impairments seen in this condition and in other autism spectrum disorders (ASDs). Researchers reached this conclusion in a study titled, “Loss of…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

On the last day of February every year, hundreds of patient organizations worldwide get together to raise awareness for rare diseases. This year, to celebrate Rare Disease Day on Feb. 28, the Angelman Syndrome Foundation (ASF) is challenging all families to share their story to inspire the Angelman…

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…