Moving FAST to Treat Angelman Syndrome

05/16/23 • 30 min

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

Show Notes

Previous Episode

Free for Life: The Story of n-Lorem Foundation

When patients face the diagnosis of a rare disease, they face a costly, uphill battle to develop a treatment for their condition... that is, if they ever do.

Dr. Stanley Crooke is aiming to change that. As the CEO of n-Lorem Foundation, his mission is to provide personalized treatments to ultra-rare disease patients for free as long as they live, no questions asked. Thanks to his humility, coupled with the generosity of other individuals and companies, ultra-rare disease patients have a renewed hope to get the treatments others may not be able to provide.

Join Dr. Crooke as he reflects on his humble beginnings at Ionis, the approach n-Lorem takes to developing drugs for ultra-rare diseases, and what the future holds for research in this area.

Show Notes

Next Episode

SCA3: A Family Affair

Spinocerebellar ataxia type 3 (SCA3) is a neuromuscular disease affecting just 50,000 people in the United States, including three generations of the Klassen family.

Greg Klassen, his father, and his son have all been diagnosed with this rare condition that impacts the central nervous system, affecting balance, coordination, and mood. Motivated by the 50/50 chance his son Jeff will develop its unforgiving symptoms, Greg joined the board of the Cure Rare Disease foundation and is currently in touch with the efforts being made to develop a treatment that will improve his quality of life and others affected by SCA3.

Join us for a conversation on how Greg copes with SCA3 in his own life, what the rare disease community is doing to raise awareness, how antisense oligonucleotides (ASOs) could lead to a potential treatment, and what it would mean to him if a cure was developed.

Show Notes