A potential treatment for Angelman syndrome, GTX-102, has been granted both orphan drug and rare pediatric disease designations by the U.S. Food and Drug Administration (FDA) to support and help speed its advancement. The companies co-developing GTX-102 plan to file an investigational new drug application with the FDA in early 2020,…
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
Lowering the levels of two proteins involved in nerve cell development and tightly linked to the activity of UBE3A — the enzyme that is faulty in Angelman syndrome — could be an attractive way of reversing the deficits in nerve cell communication that characterize UBE3A-related disorders, according to a recent…
Neuren Pharmaceutical’s candidate NNZ-2591 has shown positive effects in a mouse model of Angelman syndrome, treating all symptoms of the disease, the company announced. These results were used to submit an Orphan Drug application to the U.S. Food and Drug Administration (FDA). Angelman syndrome…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
Spaced training interventions may be used to minimize learning impairments associated with neurological disorders, including Down and Angelman syndrome, a mouse study has found. The results, “Spaced training improves learning in Ts65Dn and Ube3a mouse models of intellectual disabilities,” were published in Translational Psychiatry. In psychology…
Behavioral tests based on how well a child performs specific tasks may be promising tools for evaluating memory and motor abilities in those with Angelman syndrome (AS) and be of particular use in clinical trials, a pilot study reports. The study, “Using Behavioral Approaches to Assess Memory, Imitation and…
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…
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