Angelman Syndrome News – The Web's Daily Resource for Angelman Syndrome News

• Burdine, Angelman researcher and parent, recognized for work November 6, 2024
  Rebecca Burdine, PhD, a professor at Princeton University, received two awards for her contributions to Angelman syndrome research. The Angelman Syndrome Foundation awarded Burdine the 2024 Harry and Audrey Angelman Award for Meritorious Service. The award, named for Harry Angelman, the doctor who first formally described Angelman syndrome, and his wife, Audrey, is given to […]
• Processing the complexities of our son’s happy demeanor November 5, 2024
  Prior to receiving our son Jude’s diagnosis of Angelman syndrome last April, when he was just 16 months old, we beamed with pride that he was a social butterfly who brought joy to everyone he met. Jude’s cheerful personality has always drawn attention. Passersby, checkout cashiers, and waitresses often say to us, “What a happy […]
• Reflections after a year of early intervention therapy October 8, 2024
  In September, my husband and I marked a year since my son Jude, then 9 months old, started early intervention therapy, the standard of treatment for managing speech, movement, and balance disorders in those living with Angelman syndrome. A doctor who’d been treating Jude for sleep apnea since he was 3 weeks old first recommended […]
• Children’s Colorado clinic named Angelman center of excellence October 2, 2024
  The Angelman Syndrome Foundation (ASF) and the Dup15Q Alliance have designated the Chromosome 15 and Related Disorders Clinic at Children’s Hospital Colorado as a center of excellence, a recognition of the comprehensive care the clinic provides to those with Angelman syndrome and its involvement in research. The designation is given to health institutions capable of delivering […]
• Overcoming fear after an Angelman syndrome diagnosis September 10, 2024
  At 11:12 a.m. on Christmas Eve last year, I sent a text. Our son, Jude, had just turned 1, and over the past four months we’d become increasingly worried that he wasn’t meeting his developmental milestones. He was a month away from being assessed for cerebral palsy (a common misdiagnosis for Angelman syndrome) and three […]
• Anxiety, repetitive behaviors predict sleep problems in Angelman September 4, 2024
  Anxiety and repetitive behaviors are significant predictors of sleep problems among children and adolescents with Angelman syndrome, according to a new study using global registry data. Language and communication difficulties and challenging behaviors also were linked to sleep problems in these patients. “Future research needs to replicate this research and to advance clinical treatment of […]
• Angelman syndrome treatment ION582 eases symptoms: Trial data August 7, 2024
  Ionis Pharmaceuticals’ investigational Angelman syndrome treatment ION582 demonstrated a favorable safety profile and lessened overall symptoms in patients participating in the HALOS clinical trial. That’s according to six-month follow-up data from part one of Phase 1/2 study (NCT05127226), which tested three doses of ION582 — low, medium and high — injected directly into the spinal canal […]
• Here comes the sun after our son’s Angelman syndrome diagnosis August 6, 2024
  Nothing can prepare you for the beautiful and chaotic roller coaster of raising a child. For a brief moment, we felt as though the path we’d expected to follow went completely off course when we learned our one and only child would live a life of significant disadvantage. My name is Joelene Wand, and I’m […]
• Pivotal Phase 3 trial of GTX-102 expected to launch by year’s end July 25, 2024
  Note: This story was updated Aug. 13, 2024, to correct the spelling of the measure of cognitive development to Bayley-4. Authorities in both the U.S. and Europe have provided positive feedback to Ultragenyx Pharmaceutical regarding plans for a Phase 3 clinical trial testing its gene therapy candidate GTX-102 in people with Angelman syndrome. Now, having completed […]
• Did living with Angelman syndrome make me a minimalist? July 18, 2024
  As the caregiver to my 14-year-old daughter, Juliana, I’ve learned a precious life lesson that helps me function better while living with Angelman syndrome. What’s the lesson? It’s that I can’t live my life like everyone else. Years ago, when I realized this, my world got simpler. This realization isn’t a sad mantra stating what […]