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.
- 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
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
30:41When 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
Evie's Story Revisited
29:16Imagine 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
Neurogenesis: Regenerating Hope
27:31Could 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
AviadoBio: Bold and Courageous
31:09Recent 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
15:51As 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
A Father’s Race Against Time
29:40Spastic 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