News

The U.S. Food and Drug Administration (FDA) has granted both orphan drug and rare pediatric disease status to ION582, Ionis Pharmaceutical’s investigational treatment for Angelman syndrome. The announcement of the new FDA designations — both aimed at encouraging the therapy’s development — follows the launch of the…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

A novel gene therapy that codes for a version of the UBE3A protein that can be secreted by cells outperformed a gene therapy coding unmodified UBE3A protein in a rat model of Angelman syndrome, a new study reports. The study, “Improving Gene Therapy for Angelman Syndrome with…

Lower the levels of a small RNA molecule called miR-134 was shown to protect against seizures for both old and young mice in a model of Angelman syndrome in a study. The study, “AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome,” was…

Mice with Angelman syndrome (AS) show clear abnormalities in walking patterns, and assessing these patterns may be useful for measuring the efficacy of potential therapies, a new study indicates. “Gait analysis proved a reliable, translational assay that can accomplish within-subject lifespan development, regression, progression and/or decline without confounding test–retest…

A previously unreported variant in the UBE3A gene caused an inherited form of Angelman syndrome in six members of a Chinese family, a study reports. The finding expands the genetic spectrum of Angelman syndrome and supports genetic counseling for those affected, its researchers said. The study, “…

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…

A comprehensive genetic test called whole-exome sequencing (WES) can identify potential rare and disease-causing mutations that would be missed by standard tests for Angelman syndrome, a case report on a 2-year-old girl in Indonesia highlights. The case study, “The role of whole exome sequencing in the…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…