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November 16, 2018November 16, 2018

Short-term use of NSI-189 Aids Cognitive and Motor Skills in Angelman Mouse Model, Study Says

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Short-term treatment with Neuralstem‘s NSI-189 reversed cognitive and motor impairments in a mouse model of Angelman syndrome, according to study results. This early finding could help to pave the way for this compound, in ... Read more

November 9, 2018November 9, 2018

UBE3A Gene Reactivation in Inhibitory Neurons May Prevent Seizures, Angelman Mouse Study Shows

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Epileptic seizures caused by disturbances in the activity of a specific type of nerve cell called an inhibitory neuron were prevented by the reactivation of the UBE3A gene in young mice with Angelman ... Read more

November 2, 2018November 2, 2018

Researchers Closer to Understanding Role of Enzyme Behind Angelman Syndrome, Study Reports

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Researchers from the University of North Carolina have found that ubiquitin protein ligase E3A — the malfunction of which is behind Angelman syndrome development — is present in different types of neurons ... Read more

October 29, 2018October 29, 2018

#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach

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With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Credit ... Read more

October 26, 2018October 26, 2018

OV101 Improves Motor and Sleep Performance in Angelman Patients, New Data from STARS Phase 2 Trial Show

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New data from Ovid Therapeutics’ Phase 2 STARS trial shows that treatment with oral candidate OV101 once daily at a dose of 15 mg significantly improves sleep and motor skills ... Read more

October 16, 2018October 16, 2018

New Angelman Mouse Study Reveals Unexpected Consequences of Genetic Imprinting Defects

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Disrupting the regions that regulate UBE3A gene expression results in Angelman syndrome-like defects in a study using a new mouse model of the disease has found. The study, “A ... Read more

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

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