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RSS Angelman Syndrome News – The Web's Daily Resource for Angelman Syndrome News
  • Translating Angelman patient registry boosted participation June 5, 2024
    The translation into other languages of the Global Angelman Syndrome Registry (GASR) website has substantially boosted global participation by families affected by Angelman syndrome, a study shows. Researchers say adopting multiple languages “helps build and maintain engagement with global disease communities.” The approach could also serve as an example for other rare disease registries that […]
  • Sisters’ Angelman syndrome tied to new UBE3A mutation May 1, 2024
    A previously unreported mutation in the UBE3A gene was found to be the cause of Angelman syndrome for two sisters. The sisters’ journey to obtaining a correct diagnosis was detailed in a paper, “Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey,” published […]
  • Patient, parent life quality affected by emotional, sleep problems in AS April 3, 2024
    Emotional and behavioral problems are the symptoms of Angelman syndrome (AS) that most significantly predict lower life quality in children with the genetic disease, according to a study from the Netherlands. Moreover, these issues — along with a child’s sleep problems — were found to have the greatest impact on parental caregivers’ personal time, anxiety, […]
  • Results of KIK-AS Angelman gene therapy study due 1st half of year March 6, 2024
    The Phase 1/2 KIK-AS clinical trial, which is testing the experimental genetic therapy GTX-102 in children with Angelman syndrome, has finished enrolling patients. With 74 enrolled, including 53 in dose-expansion groups, the therapy’s developer Ultragenyx Pharmaceutical said results will be available in the next few months. “With completion of enrollment in the Phase 1/2 trial, we […]
  • Shared mission to rally support for International Angelman Day February 7, 2024
    Supporters globally are poised for International Angelman Day (IAD), set aside annually on Feb. 15, to call attention to Angelman syndrome and the 500,000 people globally estimated to be affected by the complex neurological disorder. In addition to spreading awareness about Angelman, the event seeks to unite and mobilize Angelman families and organizations around a shared […]
  • Practicing fine motor skills in Angelman, a spoonful at a time February 1, 2024
    As Juliana, my 13-year-old daughter with Angelman syndrome, gets older, improving her skills stays at the forefront of our daily living. We work on toileting, tooth brushing, and stair climbing. Any task that practices her fine motor skills is also on the list. One of those ongoing skills is using a spoon to feed herself. […]
  • A strange sound may mean my Angel’s communication is improving January 4, 2024
    For the last few months, an odd sound has been emerging from my daughter’s room. My 13-year-old Angel, Juliana, is stuck making an “ugh” sound. The sound is annoying, and it’s left me baffled about whether we’re facing regression or progression with her communication. It’s hard to tell which it is, but because I lean […]
  • Device for home monitoring of sleep with Angelman’s seen as effective January 3, 2024
    A device to remotely monitor sleep in Angelman syndrome (AS) patients, called EarlySense, was found to be feasible for characterizing their sleep patterns in an at-home setting, according to a recent report. The no-contact device recognized sleep patterns similar to those recorded with the gold-standard polysomnography (PSG) test, which involves placing multiple sensors on a person’s […]
  • FAST, UPenn team to advance gene therapy candidate for Angelman December 6, 2023
    The Foundation for Angelman Syndrome Therapeutics (FAST) has teamed up with the University of Pennsylvania to develop an investigational gene therapy for Angelman syndrome. The nonprofit has sponsored preclinical research at the Gene Therapy Program at the University of Pennsylvania since 2017 to develop a gene therapy for Angelman syndrome that can be delivered to […]
  • Paying attention to self-care and well-being is key for caregivers November 30, 2023
    When you’re a caregiver to someone with Angelman syndrome, making time for yourself seems like an impossibility. However, I consider this necessity an important part of my caregiver responsibilities. After all, if I don’t look out for my own well-being, I’ll burn out. And that will make the job of taking care of my 13-year-old […]