Description
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
At Mission Therapeutics, Sarah Almond serves as their Head of Pharmacology, but she wears many hats to help develop potential treatments for neurodegenerative conditions.
Their main area of focus centers around research into deubiquitinating enzymes (DUBs), which may impact...
Published 04/16/24
When he founded Cure Rare Disease in 2018, Rich Horgan was primarily focused on finding a treatment for his younger brother Terry, who had an ultra-rare form of Duchenne Muscular Dystrophy (DMD).
Suffering from a disease that has no cure, Terry served as a “selfless, brave, and courageous”...
Published 02/20/24