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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 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…

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 disease. The team claims that such alterations might have serious implications and should be taken into account when selecting this…

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 review. The review, “Investigating humor in social interaction in people with intellectual disabilities: A systematic review of the literature,”…

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 two disorders, however, was not established and may be coincidence. The study, “Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical…

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 placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE…

Nonepileptic myoclonus is a common feature in Angelman adolescents and young adults, and although it does not affect consciousness or cause cognitive consequences, it can affect quality of life significantly, a study shows The research, “Myoclonus in Angelman Syndrome…