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...
Jul 16, 2024•32 min•Season 5Ep. 10
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...
Jun 18, 2024•41 min•Season 5Ep. 9
Stimulant use in the United States has exploded into a nationwide crisis, as deaths and emergency room visits resulting from methamphetamine and cocaine use are rising at an alarming rate. The overall substance abuse disorder crisis is further exacerbated by the high level of fentanyl use, which has long been referred to as an opioid epidemic, and the increasing use of more than substance at once. One fundamental limitation on the ability to respond to the crisis is that, to date, there is no FD...
May 21, 2024•27 min•Season 5Ep. 8
At Mission Therapeutics, Sarah Almond serves as their Head of Pharmacology, but she wears many hats to help develop potential treatments for neurodegenerative conditions. Their main area of focus centers around research into deubiquitinating enzymes (DUBs), which may impact neurodegeneration. By studying DUBs, Sarah and her team have been able to generate highly targeted and potent molecules that contribute to developing safe and effective therapeutics. In fact, one of these compounds (MTX325) i...
Apr 16, 2024•17 min•Season 5Ep. 7
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 Cu...
Feb 20, 2024•36 min•Season 5Ep. 6
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 c...
Jan 16, 2024•28 min•Season 5Ep. 5
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-...
Dec 19, 2023•10 min•Season 5Ep. 4
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 literatu...
Nov 14, 2023•45 min•Season 5Ep. 3
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...
Oct 17, 2023•54 min•Season 5Ep. 2
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 becam...
Sep 19, 2023•33 min•Season 5Ep. 1
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 Riv...
Jul 18, 2023•26 min•Season 4Ep. 10
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 tou...
Jun 20, 2023•24 min•Season 4Ep. 9
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 200...
May 16, 2023•31 min•Season 4Ep. 8
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 ho...
Apr 18, 2023•31 min•Season 4Ep. 7
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 def...
Mar 21, 2023•29 min•Season 4Ep. 6
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...
Feb 21, 2023•28 min•Season 4Ep. 5
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 neurodegenerativ...
Jan 17, 2023•31 min•Season 4Ep. 4
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, than...
Dec 13, 2022•16 min•Season 4Ep. 3
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 g...
Nov 15, 2022•30 min•Season 4Ep. 2
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, t...
Sep 20, 2022•35 min•Season 4Ep. 1
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 Jul...
Jul 19, 2022•35 min•Season 3Ep. 10
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...
Jun 21, 2022•20 min•Season 3Ep. 9
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...
May 17, 2022•28 min•Season 3Ep. 8
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 resear...
Apr 19, 2022•28 min•Season 3Ep. 7
Imagine a gene therapy treatment that gives drug-resistant focal epilepsy patients more control over their seizures and ultimately improve their quality of life? We sat down with Karin Agerman to discuss this possibility and discovered that her work at Combigene is at the forefront of a novel gene therapy called CG01. Find out how this single-injection therapy is giving renewed hope to this patient population and learn more about CombiGene’s research into CG01. SHOW NOTES Cell and Gene Therapy S...
Mar 15, 2022•22 min•Season 3Ep. 6
In March 2020, we invited Josh Cohen and Justin Klee on Vital Science to discuss Amylyx Pharmaceuticals, a company that had one simple mission – to improve the quality of life for those battling neurodegenerative diseases. Since their humble beginnings , what was once a company with less than ten employees has grown exponentially. Get the latest from Josh and Justin as they rejoin our podcast to discuss the new drug application process for AMX0035, what they’ve learned from their experiences, an...
Jan 18, 2022•33 min•Season 3Ep. 4
The role of human cells and tissues is key in the development of next-generation therapies. With just a few samples, donors contribute to scientific advancements in medicine. This is especially true with cell and gene therapy, a field that is projected to grow over the next several years, and with it comes the growing need to find reliable and recallable donors willing to help those in need. In our latest episode of Vital Science, learn more about the critical role these unsung heroes play in ad...
Dec 21, 2021•15 min•Season 3Ep. 3
From a young age, Kim Noonan knew what she wanted in life — a career in science and a desire to help. When her mother succumbed to gastric cancer, it drove her even more to help people, especially cancer patients. Today, she’s at the forefront of a potentially game-changing development in cancer therapy — using bone marrow-infiltrating lymphocytes (MILs) designed to target and kill cancerous tumors of all shapes and sizes. Find out how her early work with myeloma patients started her road to dis...
Oct 19, 2021•29 min•Season 3Ep. 2
Huntington’s disease may only affect one in every 10,000 people in the United States, but its symptoms can drastically debilitate a person’s quality of life. For Ignacio Muñoz-Sanjuan, he witnessed first-hand the devastating effects this disease can have. He’s visited parts of the world that have the highest prevalence of Huntington’s disease on the planet, including Taiwan and South America. Today, he’s involved with two different nonprofit organizations seeking to accelerate the development of...
Sep 21, 2021•32 min•Season 3Ep. 1
Sanath Ramesh was determined to track down the resources needed to repurpose a drug for his son Raghav’s ultra-rare disease. This determination led him to apply his experiences and empower the rare disease community with his collaborative platform, the OpenTreatments Foundation. Find out how his repurposed drug platform is now giving hope to other rare disease patients. EPISODE LINK OTHER RESOURCES: Open Treatments Repurposing Compound Libraries High-Throughput Screening...
Jul 20, 2021•38 min•Season 2Ep. 11
