Vital Science

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” figure that Rich continues to draw inspiration from when seeking new, innovative solutions to treat this progressive, neurodegenerative condition.  

Join us for this interview as Rich discusses the origins of Cure Rare Disease, Terry’s ongoing legacy, the collaborative effort it takes to advance the drug development journey, the important role of the patient voice when developing treatments, and the future of rare disease research. 

Show Notes 

• What We Owe Terry Horgan: Reflections from Providers, Family, and Scientists 
• Letter From Terry's Parents 
• The Disruptors - Meet Rich 
• In Vitro Assays for Duchenne Muscular Dystrophy 
• 2022 World Congress Video 
• Duchenne Muscular Dystrophy Studies 
• Rare Disease Research for Drug Development 
• Scientific Collaboration Leads to Faster Drug Development 
• Cure Rare Disease 

For the 850 million people around the world suffering from chronic kidney disease, the grind of dialysis treatment can wear them down in more ways than one.   

Dr. Andy Herbert, co-founder of Invizius, is out to change that. This five-year-old company started from humble beginnings and is currently developing H-Guard® Priming Solution, which increases the effectiveness of dialysis while negating, or eliminating, its potentially dangerous side effects. It will be used in an upcoming first-in-human clinical trial and has the potential to improve patients’ quality of life – both physically and mentally.  

Join Dr. Herbert as we discuss the origins of Invizius, how H-Guard works, why dialysis can take a toll on mental health, and how working with a strategic partner has helped Invizius progress this treatment.

Show Notes  

 
Invizius 

Charles River's Nonclinical Support Helps Invizius Secure MHRA Approval for First-in-Human Trial of H-Guard® Hemodialysis Solution 

Renal Disorders | Charles River 

Preclinical CRO Services for Safety Assessment 

Inflammation | Charles River

Over the past 12 months, we have shared some remarkable stories from the scientific community, but three of the most impactful have come from “Disruptors” in their respective fields. Relive these stories with our hosts on the year-end edition of Vital Science.

Show Notes  

• The Disruptors: Conversations in Science 
• Meet Valerie 
• Meet Wise 
• Charles River | Gene Therapy for Neurological Disorders 
• In Vitro and In Vivo Model of Amyotrophic Lateral Sclerosis  
• https://www.criver.com/eureka/neuroinflammation-in-spinal-cord-injury-a-necessary-evil 
• W.M. Keck Center for Collaborative Neuroscience 

When Maria Picone’s daughter was diagnosed with Prader-Willi Syndrome (PWS), she turned to the internet for answers.  

What she found was an online community of caregivers sharing their experiences with PWS, giving her comfort and direction with what to do about her daughter’s rare disease. It also spurred her and her husband to create TREND Community, an online platform for caregivers of rare diseases to not only share their experiences, but also make positive contributions to scientific literature.  

Join us as we discuss the philosophy of TREND Community, how it transforms general discussions into real-world clinical research, how collaboration drives their progress, what’s next for TREND, and what you can do to help advance their mission.   

 
Show Notes

Trend Community - Impact Through Insights

Trend Community Report on Identifying Mental Health Challenges Experienced by Caregivers in Rare Disease Communities: A Social Media Analysis

Charles River | Rare Disease

The Disruptors: Innovation in Drug Discovery

Imagine a world where your child has a rare disease that’s so rare, it doesn’t have a name and only a handful of people around the world have a similar condition. It can leave you feeling helpless and alone knowing the odds are stacked against you. 

This is the situation Bo Bigelow experienced with his daughter, Tess. She suffers from a USP7, a neurodevelopmental disorder that impacts her motor function, speech, and bone development. Tess’ condition left Bo looking for help… and he found a lot of other patients and families with other ultra-rare diseases that wanted to share their stories too. Today, Bo’s initiatives have given hope to other people and help them find strength in knowing they’re not alone. 

Join us as we discuss the ways Bo documented his daughter’s journey, learn more about USP7-related diseases and their impact, how Bo created the Disorder Channel as a way for other rare disease patients to tell their stories, what progress is being made to learn more about Tess’ condition through the Foundation for USP7-Related Diseases, and how you can help advance their research. 

Show Notes

Rare Disease | Charles River

Foundation for USP-7 Related Diseases

Stronger Every Day Blog

Stronger Every Day Podcast

The Disorder Channel

18-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 

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  

Spastic Paraplegia 50 (SPG50) is a neurodegenerative and neurodevelopmental disorder that is known to affect only 80 people around the world, including just one person in Canada.  

Unfortunately for Terry Pirovolakis, it happens to be his son, Michael. As a result, he’s teamed up with gene therapy experts, CROs, and nonprofits to research, manufacture, and deliver a therapy to help his son and others suffering from this ultra-rare disease, but the clock is ticking.   

Join us as Terry discusses his grassroots efforts to raise money and found the Cure SPG50 Foundation, how SPG50 affects the body, the future of research and development for this disease, and what you can do to help Terry’s efforts. 

Show Notes:

• Sounds of Science E33: A Father's Fight 
• Eureka Blog: The Hunt for a Solution to SPG50 
• Cure SPG50 - We Did It 
• Rare Disease 
• Cell and Gene Therapy Products & Services 
• Neuroscience Studies 
• Family of baby boy with ultra-rare disease aims to raise $3M for gene therapy 
• Toronto boy with rare genetic disorder begins treatment after family raises US$3 million 
• Single-patient gene therapy clinical trial at SickKids carves a path for Precision Child Health 
• Elpida Therapeutics

For Valerie Estess, finding a cure for ALS is personal.

Her sister, Jenifer, was diagnosed with this crippling disease in 1998, which led to the founding of Project ALS, a nonprofit designed to raise awareness and eventually find a cure. Nearly 25 years later, they have raised over $100 million and helped develop Jacifusen, the first therapy designed to help treat ALS. However, Valerie believes their work is far from finished.

Join us for an intimate discussion on the origins of Project ALS, their collaborative efforts with leading scientists, academic institutions, and contract research organizations to further their knowledge of the disease, and what lies ahead for Project ALS’ mission and research.

SHOW NOTES

• Project ALS
• The Hermstad Legacy: Advances in Treatments for ALS
• Jaci's Genes
• Neuroscience Studies
• S3, E04: From Humble Beginnings to Potential Treatment for ALS
• Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis

What happens when you combine an industry-altering, AI-powered platform with a leading CRO's preclinical expertise? 

That’s what Valo Health and Charles River are answering with the introduction of Logica™. This revolutionary platform aims to accelerate drug discovery and development by finding the most viable molecules faster, helping biotechs and pharma focus their resources only on the ones that will evolve into therapies that patients will receive more quickly.  

Join Guido Lanza (Valo) and Julie Frearson (Charles River) as they discuss the components of Logica™, what makes it unique from other platforms, and how it will transform the future of drug discovery.  
 

Show Notes 

• https://www.criver.com/products-services/discovery-services/logica-transformative-drug-design 
• https://www.criver.com/insights/charles-river-and-valo-health-launch-logica 
• https://www.criver.com/eureka/medicine-meet-ai-how-machine-learning-transforming-drug-discovery  
• Valo Health Is Partnering With Charles River Laboratories To Accelerate Preclinical Drug Discovery  
• Charles River, Valo Enter AI-enabled Drug Discovery Pact 

Drug developers face long odds and complex regulatory challenges when it comes to crafting a suitable candidate. In fact, only one of every 10 drug candidates gain regulatory approval, and when they do, it takes an average of 14 years and costs well over $2 billion.  

So what makes for a successful candidate? It starts with a suitable screening platform that identifies targets and the molecules that bind to them to create a therapeutic response. Retrogenix is one such platform that the top 20 drug developers in the world currently use to increase their chances of success thanks to its unique technology that doesn’t require animal models or human tissue to evaluate effectiveness.  

Join us to find out how Retrogenix works to identify targets, accelerate drug development, get vulnerable patients the therapies they need more quickly, and adapt to meet the growing demands of regulatory agencies. 

Show Notes 

• Charles River Acquires Retrogenix 
• Retrogenix Cell Microarray Technology 
• De-risking Therapies and Vaccines for Use During Pregnancy 
• Assessing ADC Anticancer Therapeutics via Antibody Specificity Screening 
• Screening and Profiling Assays 
• Off-Target Screening Cell Microarray Assay  
• Webinar: Building a comprehensive lead enabling library  
• Poster: Off-target Assessment of Biotherapeutics for us During Pregnancy 
• Case Study: Antibody Drug Conjugate Off-Target Binding Screen

Aled Edwards’ vision of science is set to shake the foundation of drug discovery and development as we know it.  

The Director of M4K Pharma and CEO of the Structural Genomics Consortium is leading the charge for a more open scientific approach. It’s a parallel universe where scientists can work together and get therapies designed to treat rare diseases in the hands of patients even faster – one that isn’t bound by patents, siloes, and profits. 

Join Aled as he discusses the “open science” approach, the current state of the pharmaceutical industry, and what the future holds for genetic biology.

Show Notes 

• M4K Pharma Open Science for Children's Health 
• Structural Genomics Consortium 
• The Disruptors - Meet Aled 
• A Deadly Brain Cancer in Children 
• Tackling DIPG with Open Science 
• The Journal of Medicinal Chemistry—Leveraging an Open Science Drug Discovery Model to Develop CNS-Penetrant ALK2 Inhibitors for the Treatment of Diffuse Intrinsic Pontine Glioma 

Resources 

• M4K Pharma Open Science for Children's Health 
• SGC 
• The Disruptors - Meet Aled

A medic by trade, Mark Kotter has always held a particular interest in neuroscience and stem cell research.

As founder and CEO of bit.bio, he's overseen the development of a unique approach to "reprogram" stem cells and change them into consistent and scalable disease-relevant cells, which can then be screened for potential therapeutics to help treat such diseases as Huntington's Alzheimer's, and ALS.

Hear about this revolutionary technology and how it works, what benefits it can provide researchers, and how it could very well shape the future of drug development.

Show Notes 

• Stem Cells for Drug Discovery 
• Building a Stable of Stem Cells 
• Conversations in Science With Disruptors Leading the Way 
• Neuroscience | Charles River 
• bit.bio 

Resources 

• https://www.bit.bio/news/focus-on-a-founder-with-mark-kotter-celebrating-10-years-of-community 
• https://www.criver.com/eureka/podcast/e28-building-the-building-blocks-of-life  
• https://www.criver.com/about-us/disruptors/meet-mark?region=3601 
• https://www.bit.bio/ 
• Stem Cells for Drug Discovery 
• Next Generation Reprogramming of Human iPSCs to Generate Disease-specific Glutamatergic Neurons Carrying HTT Gene for Huntington’s Disease Research and Drug Discovery
  https://www.criver.com/neuroscience-2021