Vital Science

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 FO...

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, wou...

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....

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 molecule...

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...

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...

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...

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 d...

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...

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 the...

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 advanc...

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...

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...

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, coupl...

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 medicatio...

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...

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 designati...

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 wo...

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 o...

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...

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 t...

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...

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...

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...

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 patien...