Vital Science – Détails, épisodes et analyse

Being the parent of a child with an ultra-rare disease can be a daunting challenge.

Nasha Fitter is no different. Her daughter Amara is nonverbal and suffers from epileptic seizures, two of the common symptoms associated with her eventual diagnosis of an ultra-rare neurodevelopmental disorder known as FOXG1 Syndrome. Motivated by her desire to learn more about this condition, she co-founded the FOXG1 Research Foundation (FRF) with her fellow peers.

Through all the challenges they’ve faced, Nasha and FRF are set to conduct critical research in the hopes of developing a treatment for not just this condition, but other ultra-rare diseases primarily affecting children to eventually give them “the life they deserve.”

Join us as we conclude season five where Nasha discusses the origins of FRF, how Amara’s life has been shaped by her diagnosis, how collaboration has helped advance the Foundation’s mission, and what you can do to support their ultimate goals.

Show Notes

• FOXG1 Research Foundation 
• FOXG1 Research Foundation's Nasha Fitter Speaks at the White House Rare Disease Forum 
• Rare Disease | Charles River 
• CRISPR/Cas9 Gene Editing | Charles River 
• ASO Screening and Profiling 

Imagine giving birth to a baby girl and noticing pieces of skin missing from her body almost immediately.  

For Sharmila Nikapota, this was the case with her firstborn, Sohana. Genetic testing revealed that she was one of the over 500,000 people globally suffering from Epidermolysis Bullosa (EB), a “constantly painful and debilitating” skin condition where minimal contact can lead to blisters, wounds, tissue damage, eating difficulties, and eye injuries, among other symptoms. After seeking answers for her daughter’s prognosis and not getting any, Sharmila started Cure EB to educate people and eventually discover ways to manage this painful condition. With the UK approving a first-of-its-kind topical treatment for EB, she hopes it’s the first of many that can give patients like her daughter a better quality of life.

Join Sharmila as she discusses how Sohana’s experience with EB has shaped her personality, the origin and mission of Cure EB, the challenges of managing Sohana’s condition, and what you can do to further Cure EB’s ultimate goals.

Show Notes 

Cure EB - Accelerating Research to End Painful Skin
Birch Bark Extract: A Review in Epidermis Bullosa
Charles River | Cell and Gene Therapy
Charles River | Rare Disease
Eureka Blog | Living Rare
Krystal Biotech Touts Topical Gene Therapy Uptake

For 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

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

• Charles River | Gene Therapy Services 
• Safety Assessment with Antisense 
• Charles Rive | Rare Disease 
• Rare Diseases - Spinocerebellar Ataxia 3 
• Cure Rare Disease 

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 
   

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 

• n-lorem Foundation 
• Charles River - Rare Disease 
• Vital Science S4, E01 Project ALS: Fueled by Love 
• 2021 Rare Disease Trailblazers 
• BioSpace: n-Lorem Foundation Preps First Doses to Treat Ultra-Rate Disease Patients for Free 
• Ionis Pharmaceuticals 
• Nature Medicine: Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis  

Imagine being diagnosed with an incurable rare disease before ever being born. This is the reality that Evie faced when she was diagnosed with hypophosphatasia, a condition impacting bone growth, breathing, and mobility, and often gives patients just 18 months to live.   

Luckily, her story doesn’t end there. At three months old, she enrolled in a clinical trial for a first-of-its-kind medication that her mom Lindsey claims “probably saved her life”. Today, Evie is 13 years old and continues to defy the odds, giving hope to other young children suffering from a rare disease that they too can find the strength to overcome anything life throws at them.  

Join Evie and Lindsey for this emotional look at their journey, how the power of collaboration has helped them along the way, and Evie’s goals for the future.

Show Notes 

• Every Patient: Evie 
• Evie's Story 
• Rare Disease Impact 
• Charles River Partners with Soft Bones: The US Hypophosphatasia Foundation 
• Probing the Genes of Rare Disease 
• No Time To Waste: Collaborative Efforts in Rare Disease Drug Discovery 
• Charles River Discovery Services 

Could it be possible to regenerate neurons in the human body? 

It’s a question that has driven Dr. Wise Young for over 40 years. He’s dedicated his career to researching spinal cord injuries and how to develop a treatment for them. Along the way, he’s discovered neurogenesis, a way to regenerate neurons in not just the spinal cord, but also the brain. Thanks to his work, what everybody told him was once impossible, is now close to becoming a reality.  

Join us as Dr. Young discusses his founding of, and work at, the W.M. Keck Center for Collaborative Neuroscience, how the components of stem cells and umbilical cord blood can help regenerate neurons, and what his vision is for the future of research in this growing field.

Show Notes 

• The Disruptors - Meet Wise 
• https://www.criver.com/therapeutic-area/neuroscience 
• https://www.criver.com/products-services/research-models-services 
• https://www.criver.com/eureka/neuroinflammation-in-spinal-cord-injury-a-necessary-evil 
• https://www.criver.com/eureka/making-efficacy-models-count 
• https://www.criver.com/molecule-type/cell-and-gene-therapy-services 
• https://www.criver.com/products-services/find-model/rnu-nude-rat?region=3611 
• https://www.criver.com/products-services/safety-assessment 
• https://www.criver.com/industry/academic

Recent advancements in research has led to the development of effective therapeutics to combat neurodegenerative diseases, giving patients a renewed sense of hope there will ultimately be a more effective treatment.

CEO Lisa Deschamps and her team at AviadoBio are among those conducting research in the space, but they’re doing things a little differently. They’ve been given a unique drug designation by the FDA to develop a treatment for frontotemporal dementia (FTD), a crippling neurodegenerative disorder that affects neuron production in people under 65. It may be a “bold and courageous” undertaking, but the benefits could affect future generations to come.

Join us as we take a look at the motivation behind the work AviadoBio is doing, what makes their therapy unique, and Lisa’s vision for their future.

Show Notes 

• AviadoBio 
• S4, E01: Project ALS: Fueled by Love 
• S3, E01: A Synergistic Approach to Treating Huntington's Disease 
• Charles River | Neuroscience 
• Charles River | Gene Therapy for Neurological Disorders 
• Charles River| GEne Therapy Services  

As we close in on the end of 2022, we’ve had the privilege to interview some amazing people who are doing great work with drug discovery.   

Join Gina Mullane and Todd Poley as we reflect on some of the memorable moments and guests from this season, including an update on Amylyx Pharmaceuticals’ new ALS treatment, Chris Claussen’s discussion on the positive impacts of psychedelic drugs, and the work of Project ALS to develop a treatment for this crippling disease.

On behalf of our entire team, thank you for listening this year. We hope you’ll join us for an exciting lineup of remarkable stories set to premiere in 2023.

Show Notes:

• Amylyx Pharmaceuticals Announces FDA Approval of RELYVRIO™ for the Treatment of ALS 
• Alzheimer’s Disease Studies  
• In Vitro and In Vivo Models of Amyotrophic Lateral Sclerosis 
• Are Psychedelics the Next Approach to Treating Mental Health Disorders? 
• FIRST PERSON LAUNCHES INNOVATIVE PRECISION-TARGETED COGNITIVE SUPPLEMENTS TO ACTIVATE THE FULL POTENTIAL OF HUMAN COGNITION 
• The Hermstad Legacy: Advances in Treatments for ALS  
• Project ALS