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.
- 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
Flere episoder fra "Vital Science"
Emily Whitehead: Pioneer and Hero
33:2918-year-old Emily Whitehead aspires to be a writer, but nothing could have prepared her for the plot twist that struck her as a child. In the space of just 24 hours, five-year-old Emily suffered from various symptoms that culminated in a diagnosis of acute lymphoblastic leukemia (ALL). After almost two years of failed chemotherapy treatments, her family turned towards an experimental CAR-T therapy that had been successful with adults but never been used on a child. Three weeks later, Emily became the first child in the world to beat her cancer by “training” her immune system to fight these malicious cells. Join Emily and her father, Tom, as they relive the chain of events that led to her diagnosis, what helped her stay calm as she underwent this experimental treatment, and how the Emily Whitehead Foundation aims to help others who are going through pediatric cancer treatment.Show Notes Emily Whitehead Foundation Vital Science S3 E02: Can MILs Strike a Killer Blow to Cancer? World Congress Event Page | Charles River Cell and Gene Therapy | Charles River Oncology CRO Services | Charles River
Modernizing Drug Development
25:58For decades, researchers have utilized animal models to help predict the effects of a drug compound in humans. With recent advances in technology and the passage of the FDA Modernization Act 2.0, researchers are increasingly looking at new methods to refine, reduce, and replace in vivo testing to advance drug candidates. However, one important question remains – how are all these modern advancements and laws driving progress in drug discovery? Find out as Michael Templin, a member of Charles River’s Scientific Advisory Services team, joins us for a look at the impacts of this legislation on regulatory submission for biosimilars, how improving animal welfare will make drug development better, and what knowledge a CRO can bring to optimize projects.Show Notes Animals in Research | Charles River Basic Research | Charles River Research Models and Services FDA Modernization Act
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SCA3: A Family Affair
23:49Spinocerebellar 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 Charles River | Gene Therapy Services Safety Assessment with Antisense Charles Rive | Rare Disease Rare Diseases - Spinocerebellar Ataxia 3 Cure Rare Disease
Moving FAST to Treat Angelman Syndrome
30:42The 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
Free for Life: The Story of n-Lorem Foundation
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Evie's Story Revisited
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Neurogenesis: Regenerating Hope
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AviadoBio: Bold and Courageous
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A Father’s Race Against Time
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