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October 12, 2018October 12, 2018

Behavioral Tests on Mice May Help Identify Therapies for Angelman Trials

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Evaluating mice bearing Ube3a mutations with a set of five behavioral tests may be a useful tool for preclinical therapy testing to identify treatments for Angelman syndrome, a study suggests. ... Read more

October 10, 2018

Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments

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Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based ... Read more

October 8, 2018October 8, 2018

UBE3A Mutation Prevents Enzyme From Binding to Proteasome, Contributing to Angelman Symptoms, Study Finds

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Researchers from Harvard Medical School have discovered that a genetic mutation in the UBE3A gene found in Angelman syndrome patients prevents an enzyme called ubiquitin ligase E3A from interacting with ... Read more

September 21, 2018

#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington

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More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products ... Read more

September 17, 2018September 17, 2018

UBE3A Gene Reactivation Restores Neuron Physiology, But Not Behavioral Defects

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Neuron activity is impaired in nerve cells located in a specific brain region of genetically engineered mice that lack the UBE3A gene. This activity can be restored upon UBE3A reactivation in ... Read more

September 10, 2018September 10, 2018

Indotecan Shows Early Promise in Treatment of Angelman Syndrome

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Indotecan (LMP400), a compound already in Phase 1 clinical trials, showed promising results as an Angelman syndrome treatment, a mouse study reported. The study, “Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase ... Read more

September 7, 2018September 9, 2018

Cells Used to Model Angelman Syndrome in Labs May Have Genetic Defect, Study Contends

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Researchers have found a specific type of genetic defect in stem cells derived from a patient with Angelman syndrome that have been used as a laboratory model to study the ... Read more

September 1, 2018October 1, 2018

Humor is Crucial for Social and Emotional Well-being in People With Intellectual Disabilities, Review Shows

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Humor is essential for the social, developmental and emotional well-being of people affected by different types of intellectual disabilities, including Angelman syndrome, and their caregivers, according to a recent literature ... Read more

August 31, 2018September 10, 2018

Dihydropyrimidine Dehydrogenase Deficiency Found in Boy Later Diagnosed with Angelman, Case Study Reports

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Angelman syndrome can occur alongside a condition called dihydropyrimidine dehydrogenase (DPD) deficiency, which has varying degrees of severity and elusive disease mechanisms, a case report suggests. A connection between the ... Read more

August 27, 2018August 27, 2018

Minocycline Fails to Show Clinical Benefits among Angelman Syndrome Patients in Phase 2 Trial

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Minocycline failed to demonstrate any clinical benefits in the treatment of children and young adults with Angelman syndrome, results of a Phase 2 clinical trial show. The study, “A randomized ... Read more

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