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 from the cerebral cortex, where it likely exerts its function. According to the authors, this could be one of…
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#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach
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 and affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate,…
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 in adult and adolescent Angelman patients. Alex Kolevzon, MD, professor of psychiatry and pediatrics at the Icahn School…
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 mouse model of Angelman syndrome imprinting defects,” was published in the journal Human Molecular Genetics. Angelman syndrome is…
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. The study, “A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs…
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 Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…
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 one of its major binding partners, the proteasome, contributing to disease symptoms. The study, “Angelman syndrome-associated point mutations…
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 Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…
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 the brain of adult animals, a mouse study reveals. The study, “Adult Ube3a gene reinstatement restores the electrophysiological deficits…
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 I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome,” was published in Molecular Autism. Angelman…
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