The effects of Angelman Syndrome (AS) on young children are debilitating. From an early age, they face an uphill battle with this neurogenetic disease’s unrelenting symptoms, including seizures, cognitive impairments, and loss of motor function.
It can also be tough on caretakers – just ask Dr. Allyson Berent and Jennifer Panagoulias. They both have personal connections to this disease, which in Dr. Berent’s case led to her creating the Foundation for Angelman Syndrome Therapeutics (FAST) in 2008. Today, Panagoulias, whose niece has AS, serves as their head of Regulatory and Policy, tasked with the responsibility to find a path that will develop treatments to improve the quality of life for both patients and caregivers.
Join Jennifer as we discuss the origins of FAST, the science behind Angelman Syndrome, the crucial role outside partnerships have played in research, and what’s in the pipeline for potential therapeutics.
Show Notes
- Foundation for Angelman Syndrome Therapeutics
- ASOs Rescue Brain Rhythms, Sleep Patterns in Angelman Mouse Model
- A Big Year for Angelman Syndrome
- Antisense Therapies and Angelman's Syndrome
- Unsilencing Quincy
- The Quest to Cure Quincy
- Development of Potential Outcome Measures for AS Clinical Trials – Angelman Syndrome Foundation
05/16/23 • 30 min
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