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) is currently enrolled in a clinical trial to test its safety and pharmacokinetics ah ..read more

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 tak ..read more

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 ..read more

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. K ..read more

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 tran ..read more

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 ..read more

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 f ..read more

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 impac ..read more

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 ..read more

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 Polic ..read more