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Dr Eugene Manley grew up in Detroit in the 1980s cycling through emergency rooms 20 to 30 times a year with asthma and anaphylaxis while hospital staff talked past his family and buried them in paperwork they could not decode. He responded by earning a BS in mechanical engineering an MS in biomedical engineering and a PhD in molecular biology cell biology and biochemistry. Along the way he tore his ACL training for a jiu jitsu black belt worked 86 straight days in a lab during his doctorate and learned how academic and clinical systems punish people who refuse to shrink.In this episode Manley walks through a recent post surgery ordeal at Mount Sinai Queens where staff falsified records attempted an illegal discharge and nearly sent him home on the wrong blood thinner. He explains how medical racism shows up in charts staffing and decision making and why measurable equity fails without accountability. Listeners hear how his STEMM and Cancer Health Equity Foundation builds pipelines for underrepresented students challenges clinical trial design and teaches patients how to protect themselves when institutions lie. RELATED LINKS• Eugene Manley Jr• STEMM and Cancer Health Equity Foundation• Village Voice• LUNGevity FoundationFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Aubrey Masango speaks to Dr Chris Hendriks, Chief Medical Officer at Decentra Health and Chief Community Impact Officer at A Rare Cause to discuss the state of rare diseases in South Africa; the efforts being made to support patients and families. Tags: 702, Aubrey Masango show, Aubrey Masango, Bra Aubrey, Dr Chris Hendriks, Decentra Health, Rare Disease, Bicornuate uterus, Charge Syndrome The Aubrey Masango Show is presented by late night radio broadcaster Aubrey Masango. Aubrey hosts in-depth interviews on controversial political issues and chats to experts offering life advice and guidance in areas of psychology, personal finance and more. All Aubrey’s interviews are podcasted for you to catch-up and listen. Thank you for listening to this podcast from The Aubrey Masango Show. Listen live on weekdays between 20:00 and 24:00 (SA Time) to The Aubrey Masango Show broadcast on 702 https://buff.ly/gk3y0Kj and on CapeTalk between 20:00 and 21:00 (SA Time) https://buff.ly/NnFM3Nk Find out more about the show here https://buff.ly/lzyKCv0 and get all the catch-up podcasts https://buff.ly/rT6znsn Subscribe to the 702 and CapeTalk Daily and Weekly Newsletters https://buff.ly/v5mfet Follow us on social media: 702 on Facebook: https://www.facebook.com/TalkRadio702 702 on TikTok: https://www.tiktok.com/@talkradio702 702 on Instagram: https://www.instagram.com/talkradio702/ 702 on X: https://x.com/Radio702 702 on YouTube: https://www.youtube.com/@radio702 CapeTalk on Facebook: https://www.facebook.com/CapeTalk CapeTalk on TikTok: https://www.tiktok.com/@capetalk CapeTalk on Instagram: https://www.instagram.com/ CapeTalk on X: https://x.com/CapeTalk CapeTalk on YouTube: https://www.youtube.com/@CapeTalk567See omnystudio.com/listener for privacy information.
To mark Rare Disease Day, this special Spotlight episode explores why rare diseases - affecting an estimated one in 17 people in the UK – still face years of diagnostic delays and limited treatment options.Host Sarah Darwood speaks to CEO of LifeArc Dr Sam Barrell and Terry Pirovalakis, whose son Michael has been diagnosed with the rare neurological disorder SPG50. Their discussion looks at the reality of the “diagnostic odyssey”; gaps in data, investment and regulatory pathways; and the financial and structural challenges that limit progress in rare conditions.They also explore the growing role of parents as advocates and innovators, the case for a national rare disease champion, and why a more joined-up approach across government, regulators, industry and charities is essential to delivering faster diagnoses and access to life-changing therapies.This New Statesman podcast episode has been fully funded by LifeArc.Find out more about LifeArc's Taskforce Report and recommendations.LISTEN AD-FREE:
Parenthood doesn't always unfold the way we imagine.In this Rare Disease Day special, Sarah shares her family's lived experience of parenting a child with a rare disease — from diagnosis and grief to resilience and connection. This conversation explores how labels can become tools for finding support, not reasons for hiding, and how A Different Story was created as a community for parents in the Netherlands to be seen, heard, and held.This episode may feel heavy for some — and deeply affirming for others. It is shared with care, dignity, and the belief that no one should navigate this journey alone.
A panel discussion and interactive Q & A with the strategists, developers, and researchers behind patient matchmaking initiatives. Hosted by Kira Dineen.Dr. Nara Sobreira, Matthew Osmond, and Dr. Orion Buske discuss:Patient matchmaking as a driver of diagnosisThe technology, interoperability, and structured data powering matchmaking platformsThe future of matchmaking and international collaborationLearn more about the Variant Level Matching Network.Learn more about the Matchmaker Exchange.
On this episode of This Week in Pharmacy, we spotlight two major conversations shaping the future of pharmacy practice in 2026. First, we welcome Dr. Lisa Faast, PharmD, founder of DiversifyRx, to discuss the Pharmacy Profit Summit 2026 and how independent pharmacies can strengthen margins, diversify revenue streams, and build sustainable growth models in today's reimbursement environment. Then, we turn to Rare Disease Day 2026 with Richard Ferris, PharmD, Chief Commercial & Clinical Officer at PantherRx, to discuss specialty pharmacy leadership, pharmacist impact, and new patient feedback data revealing communication gaps in rare disease care. Segment 1: Pharmacy Profit Summit 2026 Guest: Dr. Lisa Faast, PharmD | Founder, DiversifyRx Dr. Faast joins us to break down the vision behind Pharmacy Profit Summit 2026 — an event designed to equip pharmacy owners with practical strategies to increase profitability while maintaining clinical excellence. Key Topics Covered: • Why independent pharmacies must move beyond traditional dispensing revenue • Diversification strategies including niche services and high-value offerings • Real-world financial benchmarks pharmacy owners should track • How mindset, leadership, and data discipline drive sustainable profitability • The importance of collaboration and shared intelligence among pharmacy entrepreneurs The Pharmacy Profit Summit is not just about revenue — it's about equipping pharmacy owners to compete intelligently in a rapidly consolidating healthcare market. Segment 2: Rare Disease Day 2026 Guest: Richard Ferris, PharmD | PantherRx Rare Pharmacy In recognition of Rare Disease Day 2026, we are honored to welcome Richard Ferris, PharmD, to discuss the critical role pharmacists play in specialty pharmacy and rare disease care. PantherRx recently released survey findings examining patient and caregiver experiences within rare disease treatment journeys. Key Study Highlights: • 90% of patients and caregivers report delays due to communication gaps • 68% report waiting for updates from providers, pharmacies, or insurers • 90% say they manage the care process themselves • 72% desire a dedicated care coordinator • 73% agree it is unclear who is responsible for coordinating rare disease care Despite advances in specialty therapeutics, patients are still asking for the fundamentals: clear communication, coordinated care, and personalized support. Richard discusses: • The growing importance of specialty pharmacists as care coordinators • Why rare disease patients often feel burdened by system fragmentation • How specialty pharmacy can close communication gaps • The need for pharmacist-led continuity in complex therapy management Rare Disease Day reminds us that specialty pharmacy is not only about high-cost medications — it is about human connection, long-term coordination, and advocacy for patients navigating some of the most complex clinical journeys in healthcare. From business sustainability to patient-centered specialty care, this episode reinforces two realities: Pharmacy must remain financially strong to survive. Pharmacists must remain clinically present to lead. As the profession evolves, profitability and patient advocacy are not opposing forces — they are interdependent pillars of pharmacy's future. Listen now and join the conversation shaping Pharmacy in 2026.
It's Rare Disease Week! And the Boston Globe held its second annual Rare Disease Summit, shining a spotlight on the 30 million people living with a rare disease in the US. In this BONUS live recording of Say More, we talk to Boston Children's Hospital head of pediatrics Dr. Wendy Chung about strides in newborn genetic screening, and Bob and Bobby Coughlin, a father and son whose lives have been transformed by a breakthrough cystic fibrosis drug that's changing the outlook for people with the disease. Email us at saymore@globe.com. To sign up for the Boston Globe Events newsletter, click here.
Rare Disease Day Special | Let's Talk RareThis Rare Disease Day, Let's Talk Rare releases a special episode focused on the data and real-world context behind rare diseases.The episode features Iro Malekous, consultant at Partners4Access, who discusses:Key statistics shaping the rare disease landscapeWhat those numbers mean for patients and familiesGaps in diagnosis, access, and treatmentWhy Rare Disease Day remains an important global awareness momentThis episode takes a clear, evidence-based look at rare diseases while grounding the discussion in lived experience.
Gibraltar's elected representatives could debate the text of the Treaty for Gibraltar's future relationship with the EU as early as Tuesday. The Chief Minister says he envisions a vibrant, positive and growing Gibraltar after the Treaty. Ros Astengo brings us the latest from Viewpoint. Aniridia advocate Eloise Durante joins us to share her journey living with the rare genetic eye condition, with tomorrow being Rare Disease day. The season of Lent is underway, and the annual Lenten Lunches return — Navy Chaplain Father Danny Hernandez will be with us in the studio.Plus, the latest sports news.And, leading names in music education are in Gibraltar. We'll be joined by Professor Andy Stott and UK gospel singer Wayne Ellington, as well as GAMPA's Jeremy Perez. Hosted on Acast. See acast.com/privacy for more information.
Dr. Tugce Balci - Medical Geneticist with London Health Sciences Centre and Dr. Sunita Venkateswaran - a paediatric neurologist and associate professor in the Department of Paediatrics at Western University joined Mike Stubbs in the 980 CFPL studios to talk about Rare Disease Day and the SWORD (Southwestern Ontario Rare Disease) program at LHSC.
We're marking Rare Disease Month 2026 by highlighting the powerful story of Shanthi Hegde, a young patient advocate working to transform how bleeding disorders are understood, treated, and supported. This work is fueled by her own arduous journey with two rare bleeding disorders and immune dysregulatory syndrome, and an extended diagnostic odyssey marked by dismissal, underdiagnosis, and structural bias. “I was told many times by many providers that these disorders are not common in Indians and that my bruises were there just because I'm brown.” Admirably, Shanthi pushed past this mistreatment, advocated for her medical needs, and devoted herself to tackling a range of issues confronting rare disease patients from mental health access to affordable drug pricing to research equity. In this remarkable Year of the Zebra conversation with host Lindsey Smith, you'll also learn about: Shanti's work with the Hemophilia Federation of America; How gaps extend beyond treatment to include insurance coverage, provider training, and substance use care; What clinicians can do to improve the work they do with rare disease patients. Join us for a conversation that connects patient voice to system change, and explores what real equity for rare disease communities will require. Mentioned in this episode:Hemophilia Federation of AmericaShanthi's LinkedIn Profile If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast
In this special Rare Disease Day episode of the Brain & Life podcast, co-hosts Dr. Daniel Correa and Dr. Katy Peters respond to your listener questions. They explore how rare diseases can affect relationships, offer guidance on planning for the future, and share tips for explaining complex medical conditions to others. Resources Mentioned In the Mix with Rob Floyd: Lessons on Mixology and Moyamoya What is Pompe Disease? Surviving Stroke: A Story of Perseverance and Grace CADASIL Foundation Pompe Disease News We want to hear from you! Have a question or want to hear a topic featured on the Brain & Life Podcast? · Record a voicemail at 612-928-6206 · Email us at BLpodcast@brainandlife.org Social Media Hosts: Dr. Daniel Correa @neurodrcorrea; Dr. Katy Peters @KatyPetersMDPhD
Living with Angelman Syndrome: Christopher's Story Hosted on Acast. See acast.com/privacy for more information.
Episode #194: In this episode, Kimberly Lovi interviews Stephanie Luciano Novo about Epidermolysis Bullosa (EB), a rare genetic skin disease. They discuss the impact of EB on children and families, Stephanie's personal connection to the cause, and the community's efforts to raise awareness and funds for research. The conversation highlights the advancements in treatments and the importance of community involvement in fundraising events like the plunge. The episode emphasizes the urgency of finding a cure and the inspiring resilience of those affected by EB. Chapters 00:00 Introduction to Epidermolysis Bullosa (EB) 06:06 Personal Connection to EB and Community Involvement 12:08 Understanding the Impact of EB on Families 18:03 The Role of Fundraising and Community Events 23:57 Advancements in EB Research and Treatments 29:54 Call to Action and Community Engagement Follow Kimberly on IG: @kimberlylovi EBRB (EB Research Partnership) https://www.instagram.com/ebresearch/ Matter of Time Film https://www.instagram.com/matteroftimefilm/ Matt Finlin - Director of Matter of Time https://www.instagram.com/mattfinlin/ Eddie Vedder, Pearl Jam frontman, is a co-founder of EBRP https://www.instagram.com/eddievedder/ Jill Vedder - ChairWoman at the EB Research Partnership https://www.instagram.com/jill.vedder/ The official Plunge For Eoldie - Plunge for EB account https://www.instagram.com/plungeforelodie/
Welcome to Episode 088 of the Beyond the Diagnosis Podcast. During Rare Disease Week 2026, we're shining a spotlight on something that moves our community forward in powerful ways: advocacy. On this episode we sit down with Nate Saelinger — a Histiocytosis Youth Ambassador, high school sophomore, and passionate advocate — who went to Capitol Hill to participate in Rare Disease Week with the EveryLife Foundation for Rare Diseases. Diagnosed with Langerhans Cell Histiocytosis as a child and continuing to manage diabetes insipidus, Nate is using his voice to help shape conversations around research funding, policy, access to medication and the future of rare disease care. His story is a powerful reminder that advocacy has no age limit — and that sharing lived experience can drive real change. Let us know what you think! Leave us a review, drop us a comment or share an idea for a future podcast with us at podcast@histio.org. Take a screenshot and tag us @histiocytosis_association on Instagram. We'd love to hear your feedback! Be sure to subscribe so you can be notified the moment a new episode of Beyond the Diagnosis is released. Resources mentioned in the podcast: Rare Disease Week with Every Life Foundation Follow the Histiocytosis Association on social media: Facebook: https://www.facebook.com/histio Twitter: @histiocytosis Instagram: histiocytosis_association YouTube: https://www.youtube.com/@Histiocytosis Music: “Heroes” by Noah Smith
Airing just days ahead of Rare Disease Day 2026, this mdgroup live episode focuses on the voices that matter most in rare disease research: patients and caregivers. Miriam is joined by Sarah Woods, rare disease patient, rare mom, and Founder of the Serenely Guided Foundation for Rare Diseases, for an honest and insightful conversation shaped by lived experience. Drawing on her personal journey and over 20 years of experience as a business and communications leader, Sarah shares why patient and caregiver perspectives must evolve beyond “input” to true leadership roles within clinical trial design. Together, they explore how patient-centricity, when implemented meaningfully, can enhance trial experiences, foster engagement, and ultimately lead to improved outcomes for the rare disease community.
Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today, we delve into a compelling array of advancements and strategic shifts that are shaping the healthcare landscape across the globe.In recent times, the pharmaceutical and biotech sectors have showcased remarkable resilience and innovation, driving forward with significant scientific breakthroughs and clinical trial results. A standout achievement comes from Novo Nordisk, whose recent Phase 2 trial results for its triple agonist targeting obesity reported a remarkable weight loss of up to 19.7% in patients over 24 weeks. This promising development positions Novo Nordisk as a formidable contender in the obesity treatment market, potentially affecting giants like Eli Lilly. With obesity being a significant global health challenge, these findings underscore the potential of multi-targeted approaches in managing this complex condition.Regulatory landscapes continue to evolve, with pivotal approvals marking milestones for therapies targeting rare diseases. Immedica Pharma's Loargys received FDA approval for treating hyperargininemia associated with arginase 1 deficiency, highlighting perseverance in overcoming regulatory hurdles after a prior rejection. Additionally, Sanofi and Regeneron's Dupixent achieved its ninth FDA approval, underscoring its versatile potential across multiple indications. These approvals not only reflect regulatory progress but also emphasize the critical role of persistence in drug development.Ethical considerations remain at the forefront of industry discussions, particularly highlighted by Novartis' settlement in a lawsuit concerning the use of Henrietta Lacks' cells without consent. This resolution underscores ongoing ethical challenges within biomedical research, emphasizing the need for ethical vigilance as companies increasingly rely on human-derived materials.Significant business trends are shaping strategic directions within the industry. Pfizer's acquisition of marketing rights for Sciwind's GLP-1 receptor agonist in China exemplifies a calculated move to dominate the obesity treatment market. This strategic acquisition allows Pfizer to leverage China's vast market potential for type 2 diabetes medications and positions it favorably for future weight loss treatments.On the manufacturing front, AbbVie has made substantial investments in U.S. infrastructure, committing $380 million to new North Chicago API plants as part of a decade-long strategy to inject $100 billion into U.S. operations. This initiative highlights a commitment to bolstering domestic production capabilities amidst global supply chain uncertainties.The complexities of drug development are further illustrated by Roche's decision to halt the development of Enspryng for Duchenne muscular dystrophy due to unsatisfactory progress. This shift in focus reflects the inherent challenges of drug repurposing and the necessity of robust clinical evidence to support new indications.Geopolitical factors also play a significant role in shaping industry dynamics, with recent U.S. Supreme Court decisions impacting international trade agreements. Such geopolitical influences can significantly affect pharmaceutical companies' operations and strategic planning.The collaboration between Astellas and Vir Biotechnology reflects another significant trend in strategic partnerships within the industry. Their $1.7 billion deal centered on a novel bispecific T-cell engager for prostate cancer underscores the growing importance of immuno-oncology and innovative approaches to targeting hard-to-treat cancers.The regulatory front continues to see transformative changes with the FDA unveiling draft guidance for a new approval pathway tailored for bespoke gene-editing therapies. This initiative could expedite personalized genetic treatments and transform patSupport the show
Eli Lilly notches another win over Novo Nordisk, as Zepbound bests CagriSema in a head-to-head trial sponsored by Novo; The FDA kicked off Rare Disease Week, providing draft guidance on its new plausible mechanism pathway, while a bipartisan senate hearing on Thursday will focus on the authorization process for rare conditions; Another leadership change shakes up CDC; and Gilead acquires CAR T partner Arcellx for nearly $8 billion. Everything is coming up Lilly. The Indianapolis-based pharma bested its chief rival, Novo Nordisk in a head-to-head test. In a Phase 3 trial initiated by Novo itself, Lilly's Zepbound generated 25.5% weight loss while the Danish pharma's CagriSema elicited 23%. The results sent Novo's shares plummeting by an unprecedented 20% to a pre-Wegovy valuation while Lilly's market cap continues to climb. Novo attempted a comeback on Tuesday, announcing that its triple-G agonist UBT251 scored almost 20% weight loss after 24 weeks in a Phase 2 trial in China. By comparison, Lilly's own triple-G competitor retatrutide led to 17.5% weight loss over the same timeframe, according to BMO Capital Markets analysts. Novo also sweetened the pot, announcing that it would slash the prices for all three of its GLP-1 medicines starting in 2027. Meanwhile, the FDA kicked off Rare Disease Week with draft guidance on the new Plausible Mechanism Pathway for personalized therapies that was first teased in November. Jumping off last summer's Baby KJ success story, the new pathway is aimed at advancing treatments for ultra-rare diseases. And a bipartisan senate hearing on Thursday will focus on the authorization process for rare disease therapies. While the rare disease space has enjoyed recent regulatory progress, funding these vital therapies remains a challenge. Companies like the Orphan Therapeutics Accelerator (OTXL), a non-profit biotech, are trying to change this with creative approaches including tax exempt status and unique partnerships with CDMOs and CMOs. Finally, in a move that also has implication for the rare disease space, the FDA's official pivot from a two clinical trial requirement to just one for new drug applications is lighting up biopharma social media. And over at the CDC, there is more upheaval on the leadership front as National Institutes of Health Director Jay Bhattacharya replaces acting director Jim O'Neill as head of the agency, and principal deputy director Ralph Abraham steps down, citing “unforeseen family obligations.” On the business front, Gilead inked the biggest M&A deal of the year so far, acquiring CAR T partner Arcellx for nearly $8B. And Merck's Keytruda should have a few extra years of dominance thanks to a web of patents, with billions on the line. Check it out in BioPharm Executive, in your inboxes Wednesday. HostsJef Akst, Managing Editor, BioSpaceHeather McKenzie, Senior Editor, BioSpaceAnnalee Armstrong, Senior Editor, BioSpace
Seltene Erkrankungen gelten als Randthema. Das ist ein Irrtum. Zusammengenommen betreffen sie hunderttausende Menschen. Sie bleiben unsichtbar, weil sie schwer zu erkennen sind, weil sie einzeln auftreten und weil sie nicht ins gewohnte Raster passen. Für Betroffene ist der Weg oft lang. Symptome sind diffus. Therapien greifen nicht. Erst eine klare Diagnose bringt Orientierung. Sie gibt der Krankheit einen Namen – und den Familien eine Perspektive. Noch wichtiger ist die frühe Diagnose. Beim Neugeborenen-Screening zeigt sich, was Medizin leisten kann: Erkrankungen werden entdeckt, bevor sie Schaden anrichten. Rechtzeitig behandelt, entwickeln sich Kinder oft völlig normal. In den vergangenen Jahren hat sich viel verändert. Neue Medikamente greifen gezielt ein: in Stoffwechselprozesse, in Zellstrukturen, sogar in genetische Abläufe. Doch noch immer gibt es nur für einen kleinen Teil der bekannten seltenen Erkrankungen wirksame Therapien. Fortschritt braucht Geduld, Forschung und Daten. Entscheidend sind spezialisierte Zentren. Niemand kann 8.000 Krankheitsbilder überblicken. Aber wer Auffälliges erkennt, muss wissen, wohin er überweist. Vernetzung ersetzt Zufall. Register ersetzen Einzelfälle. Aktionstage schaffen Aufmerksamkeit. Doch Sichtbarkeit allein reicht nicht. Sie muss Folgen haben: klare Zuständigkeiten, gesicherte Finanzierung, strukturierte Übergänge vom Kindes- ins Erwachsenenalter. Ziel ist kein Schonraum, sondern Selbstständigkeit. Seltene Erkrankungen stellen Medizin und Gesellschaft auf die Probe. Sie zeigen aber auch, was möglich ist, wenn Wissen geteilt wird und Strukturen tragen. Man muss nur genau hinschauen.
In this week's episode of the Xtalks Life Science Podcast, host Ayesha Rashid, Senior Life Science Journalist at Xtalks, spoke with Andrea Wilkinson, Global Head of Patient Engagement & Advocacy, Epilepsy & Neuromuscular at UCB, a company dedicated to developing solutions for autoimmune and neurological conditions, including epilepsy. The company has a growing commitment to addressing unmet needs in rare neurological diseases and underserved patient populations. With fewer than 5% of clinical trials including pregnant women, major knowledge gaps persist, particularly for women with epilepsy. In this episode, we look at new research that used social media listening across several countries to uncover treatment fears, uncertainty and barriers women face during pregnancy and motherhood, and what must change to better support informed decision-making. While epilepsy is not considered a rare disease, epilepsy in pregnancy represents a small, clinically complex population that faces unique risks and persistent care gaps. Andrea is a biotech and health tech executive who has led strategic product launches for over 30 breakthrough biopharmaceutical therapies. Focused on improving outcomes for patients, particularly in rare diseases, she has worked with early- to late-stage launch teams at AstraZeneca/MedImmune, Takeda and Sanofi Pasteur. She develops platform tools, stakeholder roadmaps and patient-centered advocacy campaigns to support first-in-class medicines and address access, reimbursement, regulatory and commercial barriers. Andrea is also an angel investor with Pipeline Angels and serves on the boards of Project Open Hand and the HBA Pacific Region. She holds a BA from Louisiana Tech University. Tune in to learn more about the unmet needs, challenges and advancements in the rare disease and epilepsy spaces. For more life science and medical device content, visit the Xtalks Vitals homepage. https://xtalks.com/vitals/ Follow Us on Social Media Twitter: https://twitter.com/Xtalks Instagram: https://www.instagram.com/xtalks/ Facebook: https://www.facebook.com/Xtalks.Webinars/ LinkedIn: https://www.linkedin.com/company/xtalks-webconferences YouTube: https://www.youtube.com/c/XtalksWebinars/featured
Jenny Opalinski has spent more than a decade inside hospitals where people lose the ability to speak, breathe, swallow, and sometimes survive. A medical speech language pathologist by training, she worked in ICU, neuro rehab, and long term acute care settings, including a Level 1 trauma center, where she watched clinicians absorb 10 to 15 traumatic events in a single shift and then get told to move the crash cart faster next time.That lived reality pushed her to co found The Wellness Shift, an advocacy and education platform focused on healthcare worker burnout, suicide, and assault. In this conversation, Opalinski walks through the moment that changed everything for her: standing in a hospital hallway listening to a family wail after a failed code, followed by a debrief that addressed logistics and ignored grief entirely.She also explains how that work led to Humanity Rx, her podcast about the human cost of medicine, and Dragon's Breath: Calming Tricks for Big Feelings, a children's book that translates evidence based breathing and regulation strategies into language kids can actually use. The episode covers moral injury, time scarcity, false wellness, respiratory muscle training, and why empathy keeps getting treated as an optional expense instead of clinical infrastructure.RELATED LINKSJenny Opalinski on LinkedInThe Wellness ShiftHumanity RxDragon's Breath: Calming Tricks for Big FeelingsAspire Respiratory ProductsFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
If you've ever felt like healthcare "listens" to patients the way a cat listens to a vacuum… this episode is for you. Wes Michael (Rare Patient Voice) breaks down what it really takes to build a community where patients feel safe, respected, and actually heard and how that trust turns into better research, better decisions, and better outcomes in rare disease. Skot and Wes talk about the company's evolution, why patient time should be compensated, how surveys and interviews turn lived experience into usable insight, and the difference between "collecting data" and "earning truth." You'll also hear why caregivers matter, what advocacy looks like in practice, and how meaningful work scales when you protect the human part of the process. Timestamps: 00:00:00 – Intro & Highlights 00:04:34 – Rare Disease Day and Why This Conversation Matters 00:05:04 – The 12-Year Cycle: Why Wes Chose to Make a Big Change 00:07:41 – Working with Pharma: Where Patient Insight Fits 00:08:19 – Paying Patients for Their Time (and Why That's Respect) 00:09:35 – Surveys, Interviews, and Capturing the Real Story 00:13:26 – Turning Lived Experience into Useful Data and Decisions 00:17:22 – Caregivers: The Missing Piece Most People Overlook 00:23:59 – Lightning Round: Trust Killers, Hiring Lessons, Keeping Promises 00:32:20 – Advocacy, What's Next, and Wrap-Up Website: rarepatientvoice.com LinkedIn: www.linkedin.com/in/wesmichael Instagram: www.instagram.com/rarepatientvoice Facebook: www.facebook.com/rarepatientvoice
In recognition of Rare Disease month we are bringing you a conversation that we first published in May 2024.In this interview, John Crowley shares how his children's diagnosis with Pompe disease propelled him from a concerned father into the rare disease biotech world, ultimately helping develop a life-saving enzyme replacement therapy. He reflects on the journey that followed—building Amicus Therapeutics, advocating for patient-centered innovation, and witnessing his children grow into adulthood with resilience, purpose, and optimism. John is currently CEO of the Biotechnology Innovation Organization (BIO).
RARE MAMAS RISING- EPISODE 55 Plugging Into the Rare Community In this special Rare Disease Day episode of Rare Mamas Rising, Nikki McIntosh reads the chapter "Plugging Into the Rare Community" from her book Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease and reflects on what Rare Disease Day has taught her as a rare disease mom. This heartfelt episode explores the power of the rare disease community, the importance of caregiver support, and why connection among rare moms can change the way we carry even the hardest seasons of rare disease parenting. Whether you are newly navigating a diagnosis or years into your caregiving journey, this episode offers encouragement, validation, and a reminder that no rare mama was meant to do this alone. Links & Resources Mentioned: For more info on Rare Disease Day, check out: https://www.rarediseaseday.org https://rarediseases.org For more support and sisterhood, check out Nikki's new book, Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease. Order the book today at the links below: Amazon Apple Books Barnes & Noble Bookshop.org Books-A-Million IndieBound Indigo Kobo Porchlight Book Info: www.raremamas.com/book CONNECT WITH NIKKI Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com PODCAST INFO podcast@raremamas.com
Few issues have tested public trust in medicine as deeply as vaccines, and few individuals have influenced that dialogue more than Dr. Paul Offit, director of the Vaccine Education Center at the Children's Hospital of Philadelphia and a longtime member of the FDA's Vaccine Advisory Committee. In this timely and candid interview with Raise the Line host Lindsey Smith, Dr. Offit points to this year's severe flu season and a resurgence of measles as alarming proof points of how a changing federal perspective on vaccine policy is having a real impact on public health. “You'd like to think you can educate about the importance of vaccines, but I fear at this point the viruses themselves are doing the educating.” In this wide ranging discussion, Dr. Offit also addresses: The rigorous and painstaking process of developing vaccines, based on his experience co-inventing the rotavirus vaccine. Shifting levels of public trust in scientific organizations. Promising innovations in vaccine development. Don't miss this deeply-informed perspective on the interplay of science, policy, and public education, and his encouraging message to young clinicians about managing the current challenges in public health. Mentioned in this episode: Vaccine Education Center at Children's Hospital of PhiladelphiaPerelman School of Medicine If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast
Sunstone Health CEO Joshua Resnikoff joins Chris Lustrino to explain how Sunstone uses AI on healthcare claims data to proactively identify children with developmental delay—starting with epilepsy and autism—and help families reach the right specialists and diagnostics faster.They break down what claims data is, why the healthcare system is reactive by default, and how Sunstone's approach can compress what often takes years into roughly weeks by flagging high-need cases, coordinating advanced diagnostics, and delivering actionable next steps. Joshua also shares Sunstone's go-to-market strategy (positioned as an employer-paid benefit), why the pricing model is designed to reduce “point-solution bloat,” and how expansion could move across employers, TPAs, reinsurers, and large insurers. 00:00 Needle-in-a-haystack intro03:13 What Sunstone does (AI + claims data)05:32 Flagging patients vs. diagnosing07:21 Employer benefit + privacy model15:54 GTM + sales cycle reality17:57 Outcome-based pricing model20:16 Unit economics ($10k per case)22:11 Expansion paths + other diseases26:23 Fundraise use of proceeds28:03 Investor closing
In this episode of IDEA Collider, host Mike Rea sits down with Michelle Werner, CEO of Alltrna, to explore a groundbreaking approach that could transform how we treat thousands of genetic diseases. Michelle shares how engineered transfer RNA (tRNA) technology has the potential to address nonsense mutations — a single class of genetic errors that account for roughly 10% of genetic diseases, affecting millions worldwide. Rather than the traditional “one drug, one disease” model, Alltrna is pursuing a mutation-targeted strategy that could treat multiple diseases with a single therapeutic platform. Episode Timestamps;00:00 Welcome to Idea Collider: Asymmetric Learning in Pharma00:19 Meet Michelle Werner: Leading Alltrna's tRNA Platform02:09 From Cancer Clinic to Pharma: A Patient-First Career Path06:18 Big Pharma vs Biotech CEO: Finding Your Authentic Leadership Style09:37 Vulnerability & Psychological Safety: Building High-Trust Teams11:46 A Personal Turning Point: Her Son's Duchenne Diagnosis17:11 Rare Disease Renegades: A Nonprofit to Accelerate Innovation18:19 Why Flagship Pioneering: The Ecosystem Behind Alltrna22:31 tRNA 101: Targeting Stop-Codon Disease Across Thousands of Conditions28:46 Rethinking Trials, Indications & FDA Pathways for Mutation-First Medicines33:49 From Preclinical to First-in-Human: Alltrna's 2026 Milestones36:49 What Keeps a CEO Up at Night + Final Takeaway: Is This Rare Disease's Inflection Point? Michelle also reflects on how her personal experience as a parent of a child with a rare condition fuels her commitment to accelerating therapies for patients who currently have few or no options. This episode highlights a pivotal question for the industry:Are rare diseases at the same inflection point oncology experienced two decades ago? Don't forget to Like, Share, Subscribe, Rate, and Review! Keep up with Michelle Werner;LinkedIn: https://www.linkedin.com/in/michelle-c-werner/Website: https://www.alltrna.com/ Follow Mike Rea On;Website: https://www.ideapharma.com/X: https://x.com/ideapharmaLinkedIn: https://www.linkedin.com/in/bigidea/ Listen to more fantastic podcast episodes: https://ideacollider.simplecast.com/
Sarah Gromko and Matthew Zachary go back to SUNY Binghamton in the early 1990s, when they were barely 19 and living inside rehearsal rooms. She starred in campus musical theater productions. He served as pianist and music director for many of those shows and played rehearsal piano for the THEA101 repertory company. This episode reunites two former theater nerds who grew up and took very different paths through art, illness, and work that still circles the same truth.Gromko trained as a singer and composer, studied film scoring at Berklee College of Music, worked in New York and New Orleans, then moved into healthcare as a speech language pathologist and recognized vocologist. She explains aphasia, apraxia, dysarthria, and dysphagia with clarity earned from the clinic. She recounts helping a 16 year old gunshot survivor in New Orleans speak again using Melodic Intonation Therapy. The conversation covers voice banking for ALS, gender affirming voice care, and the damage caused when medicine confuses speech loss with intelligence loss. The result feels like an epic reunion powered by 1990s nostalgia and sharpened by decades of lived consequence.RELATED LINKSSarah GromkoGramco VoiceMelodic Intonation TherapyFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
When Terry Pirovolakis learned his son had an ultra-rare neurodegenerative disease, SPG50, he refused to accept “no options.” What started as a desperate search for hope became Elpida Therapeutics, a nonprofit driving gene therapy innovation for multiple rare diseases. In this episode, Terry shares the remarkable journey from diagnosis to clinical trials, the power of partnerships, and why urgency matters when every day counts.Show NotesFrom Mystery to Medicine: The Science Behind a Mother's Search | PodcastTaking a Customized and Collaborative Approach to Therapeutic Development | PodcastRare Disease Research for Drug Development | Charles RiverRare Disease | Charles RiverDiscovery | Charles RiverBeyond The Diagnosis
When Insurance Gets Between Doctors and PatientsDr. Elizabeth Ames and Dr. Caleb Bupp are deeply committed to their patients. But like so many clinicians today, they're spending an extraordinary amount of time battling insurance companies instead of practicing medicine.Between prior authorizations, step therapy requirements, and outright coverage denials, physicians and their teams are buried in paperwork, often at the direct expense of patient care. Time that should be spent listening, diagnosing, and treating is instead consumed by forms, phone calls, and appeals.Boston Globe reporter Jonathan Saltzman raised the concern and Dr. Ames brought it to my attention. The reporter talks about, a new program rolled out by Blue Cross Blue Shield of Massachusetts. The insurer says the initiative is designed to control rising healthcare costs for its 3 million members, noting that costs have increased by 30 percent since 2021. But, the program specifically targets physicians who bill for the most expensive visits. The reason for the increased expense, which is discussed in our podcast, is because doctors are choosing to spend more time with rare disease patients who have complicated health issues. They need to spend more time with complex medical needs patients than say, someone with a sore throat.Drs. Ames and Bupp warn that this approach fundamentally misunderstands patient care, particularly for those with complex or rare conditions. “These patients don't need less time; they need more” says Dr. Ames. Physicians argue that policies like this risk rushed appointments, strained doctor/patient relationships, and poorer outcomes. Nowhere is this more concerning than in the rare disease community, where delays and denials can be devastating.Dr. Elizabeth Ames and Dr. Caleb Bupp talk about what this looks like in real life. As pediatric geneticists, they see firsthand how insurance barriers impact families already navigating diagnostic odysseys, uncertainty, and fear. Their work sits at the intersection of cutting-edge science and deeply human stories, and insurance interference often disrupts both. Dr. Ames, “Usually we get faxes saying, this has been denied and we start working on it. But the family gets a letter that the drug they need, the process is delayed by a “no”. We try and have good communication and say, “hey, we got this denial,” we're working on it. But I think it's deaths by a thousand cuts for the family. Families take the denial as, “I'm not worth of coverage, and that's really hard”. Dr. Bupp says they have had to hire genetic counselors, a job that didn't exist even 5 years ago, “We have a job description in our organization for it now because of the complexities that come with trying to unravel these insurance situations”.We should also note that Dr. Ames, Dr. Bupp, and I all serve on the Rare Disease Advisory Council (RDAC) in Michigan. “I think rare disease advocacy, there is power in numbers. One person can be a huge difference maker, but it's not one plus one equals two. It really exponentially grows, and I think with things like rare disease advisory councils, that gives you a better connection within your state, for state government and for advocacy. And I also think, or I hope, that it gives a place for an individual to plug in and that can then magnify and amplify. their voice so that they're not alone”. Many states have RDAC's, You can see if your state has an RDAC. For more on the Michigan RDACIn this article and in the podcast we are not speaking on behalf of the council, but it's important to understand why bodies like RDAC exist in the first place. Michigan is home to approximately one million people living with rare diseases, and the RDAC was created to ensure their voices, and experiences help shape policy. RDAC meetings are open to the public, and anyone in Michigan can participate and offer public comment. We hope you join our meetings via zoom (sometimes hybrid).This conversation isn't just about insurance policies. It's about time, trust, and whether our healthcare system truly serves patients, especially those with the most complex needs. Speak up, share your story. Advocate. Make a difference, Mold the future, for future generations.To look at the Everylife Diagnosis Odyssey https://everylifefoundation.org/delayed-diagnosis-study/ discussed in the podcast. Everylife impact of diagnosis: https://everylifefoundation.org/burden-study/ Please like, subscribe, and comment on our podcasts!Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Watch our podcasts on YouTube: https://www.youtube.com/@laurabonnell1136/featuredThanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/enRead us on Substack: https://substack.com/@lstb?utm_campaign=profile&utm_medium=profile-pageWatch our trailer of Embracing Egypt: https://youtu.be/RYjlB25Cr9Y
“I do not believe we should be testing to test. We have to know, is this test going to change management and is it going to make a difference,” says pediatric allergist-immunologist Dr. Zachary Rubin. His knack for providing that sort of straightforward guidance explains why Dr. Rubin has become a trusted voice on allergies, asthma, and vaccines for his millions of followers on social media platforms. It's also why we couldn't ask for a better guide for our discussion on the rise in allergies, asthma, and immune-related conditions in children, and how families can navigate the quickly evolving science and rampant misinformation in the space. On this episode of Raise the Line, we also preview Dr. Rubin's new book, All About Allergies, in which he breaks down dozens of conditions and diseases, offering clear explanations and practical treatment options for families. Join host Lindsey Smith for this super informative conversation in which Dr. Rubin shares his thoughts on a wide range of topics including: What's behind the rise in allergic and immune-related conditions.Tips for managing misinformation, myths and misunderstandings. How digital platforms can be leveraged to strengthen public health.How to build back public trust in medicine.Mentioned in this episode:All About Allergies bookBench to Bedside PodcastInstagramTikTokYouTube Channel If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast
Matt Hampton and Dr Tom Ingegno came into my world the way the best guests always do. They found me first. They pulled me onto their Irreverent Health Podcast, a show that blends medicine, curiosity, and unapologetic nonsense the same way Gen X kids blended Saturday morning cartoons with nuclear-war anxiety. We recorded together, we went off the rails together, and by the end I told them the rule. If you ever come to New York, you sit in my studio. No exceptions.They showed up. They took the hot seat. They told Alexa to shut up. They joked about Postmates. They compared bifocals before I even hit record. From there it turned into a full blown eighties time machine powered by weed policy, AI diagnostics, acupuncture philosophy, art school trauma, cannabis data science, paranormal detours, and the kind of deep cut pop culture references only Gen X survivors can decode.Matt builds AI systems. Tom heals people with needles and a lifetime of East Asian medicine. Together they make healthcare funny without pretending it works. They remind you that curiosity carries weight when the system collapses under its own stupidity.This episode is a reunion of three loudmouths raised on Atari, late night cable, and the hard lesson that you either tell the truth or get flattened by it. Go subscribe to Irreverent Health. These guys earned it.RELATED LINKS• Irreverent Health Podcast• Matt Hampton – Consilium Institute• Envoy Design• Dr. Tom Ingegno – Charm City Integrative Health• The Cupping Book• You Got Sick—Now What?• Matt Hampton on LinkedIn• Dr. Tom Ingegno on LinkedInFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
When the person you're caring for has a rare disease, there can be extra layers of hardship and complexity starting with the challenge of finding a diagnosis. In this episode, Allison shares with Justin what it has been like to care for her husband whose disease is rare and the two discuss what this type of caregiving can look like. --- Join us for an online support group related to this episode on Sunday, February 15, from 6:00-7:15pm CT. Register Here!
Synopsis: At JPM 2026 in San Francisco, Alok Tayi welcomes Michelle Werner, CEO of Alltrna, to Biotech 2050 for a powerful conversation at the intersection of personal mission, platform biology, and rare-disease drug development. Michelle traces her two-decade career across Bristol Myers Squibb, AstraZeneca, and Novartis—and the moment everything changed when her child was diagnosed with a rare disease. That experience led her to Alltrna and its pioneering engineered tRNA platform, designed to correct nonsense mutations across hundreds—potentially thousands—of genetic disorders with a single therapeutic approach. Together, Alok and Michelle explore how tRNAs work, why “stop-codon disease” could redefine rare-disease classification, and how basket trials borrowed from oncology may accelerate development. They dive into delivery strategy, portfolio expansion into CNS and muscle disorders, regulatory innovation, and how AI is reshaping molecular design—offering a rare look at what it takes to build a first-in-class modality from the ground up. Biography: Michelle is a seasoned pharmaceutical executive with more than 20 years in the industry spanning commercial and research & development (R&D) responsibilities. Prior to Alltrna, Michelle served as Worldwide Franchise Head, Solid Tumors at Novartis Oncology, where she was responsible for delivering the disease area strategies across multiple tumors and led business development efforts resulting in a doubling of long-term portfolio value for the franchise. Previous to Novartis, Michelle was a senior leader at AstraZeneca and as Global Franchise Head in Hematology, she was critical in launching multiple indications worldwide for CALQUENCE®. Prior to this, Michelle was Head of US Oncology, where she led the business through dramatic growth in both team and revenue through eight-plus product launches. Previous to AstraZeneca, Michelle was with Bristol-Myers Squibb for 10 years in various positions of increasing responsibility including roles in sales, marketing, and market access in the US and UK, and above market in Europe (based in France) and global almost exclusively in oncology. Michelle started her professional career in R&D, working hands-on with patients at the Oncology Clinical Trials Unit at Harvard Medical School before moving into industry in clinical operations. Outside of her corporate responsibilities, Michelle is a wife and mother to three children and is a member of the rare disease community. She is currently serving a Board appointment for the non-profit organization Rare Disease Renegades, a purpose that fuels her passions both personally and professionally.
Innovating Medicine: How Science, Collaboration, and Curiosity Transform Patient CareIt is always inspiring to speak with true innovators on this podcast, the people who don't just follow the science, but actively push it forward, turning ideas into real-world solutions that change lives. We are honored to welcome Dr. Jeffry Weers whose work has profoundly impacted the cystic fibrosis (CF) community and beyond.Dr. Weers is a distinguished pharmaceutical scientist with more than 35 years of experience designing and developing novel drug-delivery systems. Throughout his career, he has focused on innovative treatments for CF, working across formulations, biologics, small molecules, and combination products. His achievements include an extensive patent portfolio and a remarkable publication record, but what truly sets him apart is his ability to translate ideas into treatments that improve patient lives. I found that many scientists like Dr. Weers are soft spoken. They don't want to brag about their scientific successes, they just want their work to speak for itself. Dr. Weers is so darn smart! He won't toot his own horn, so I must! He's a great person who is filled with so much hope for the future.One of Dr. Weers' most notable contributions is the invention of the Tobi Podhaler, a device that transformed how inhaled antibiotics reach the lungs. For people living with CF, this innovation has meant more effective, easier-to-administer treatment, significantly improving daily quality of life. His work exemplifies the power of scientific innovation to directly impact patient care.Dr. Weers delves into both the breakthroughs and the challenges of drug development. He shares insights into the ongoing hurdles of developing inhaled medications, including inhaled insulin, and emphasizes the regulatory obstacles that can slow the introduction of new anti-infectives. Yet, he remains optimistic about the future, highlighting the role of collaboration among scientists and the potential of AI to enhance medical imaging, diagnosis, and patient outcomes.Dr. Weers also stresses the critical importance of addressing infectious diseases in CF patients and the responsibility of the scientific community to advocate for better treatments. Beyond his professional achievements, he reflects on the personal side of being a lifelong scientist, sharing how interests like farming provide balance and perspective in a demanding career.I particularly loved recording this episode because Dr. Weers has a rare ability to make complex science accessible, explaining the “why” behind innovations in a way anyone can understand. For anyone curious about the intersection of science, medicine, and human impact, this conversation is both enlightening and inspiring.To watch a fabulous video that explains the creation of what it takes to get medicine into the lungs, view here: You Tube link: https://www.youtube.com/watch?v=fwglM8Zo4m0Inhaled drug delivery in CF/ YouTube link: nother YouTube link: https://youtu.be/iV27VdieQbo Please like, subscribe, and comment on our podcasts!Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Watch our podcasts on YouTube: https://www.youtube.com/@laurabonnell1136/featuredThanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en
Both of this week's stories come from Chan Zuckerberg Initiative's Rare As One Project grantees, who share their deeply personal experiences with rare diseases and illustrate how research is so essential in the search for better treatments and cures. (For more stories like these, you can also check out our previous episode The Story Collider produced with Rare As One in 2019, 2021, 2023, and 2024, as well as our Rare Disease playlist.)Part 1: After multiple relapses, Carlos Guerrero-Anderson takes a chance on an experimental treatment for his rare cancer. Part 2: Angie Weaver holds onto an unshakable belief that her daughter, who has a rare SCN2A disorder, will beat the odds. Carlos Guerrero-Anderson is an executive leader and patient advocate committed to amplifying the voices of Hairy Cell Leukemia and rare disease communities. Diagnosed with a rare blood cancer at age 25, Carlos transformed his personal journey into a lifelong mission to advance equity and create inclusive spaces for patients and families. He currently serves as the Director of Multicultural Engagement & Insights at the Hairy Cell Leukemia Foundation, supporting patients through education, outreach to underrepresented communities, data analysis, program promotion, and the sharing of diverse patient stories. With over 20 years of experience in healthcare insights and data-driven communications, Carlos combines strategic expertise with a lived perspective to create and lead culturally responsive programs that strengthen trust, amplify patient voices, and deliver measurable impact across diverse communities. He is an active member of several national patient advocacy groups, and his work has been featured at national conferences, most recently at the NORD Rare Disease Summit 2025. Carlos believes that storytelling is one of the most powerful tools for breaking barriers, building trust, and ensuring that no patient has to fight alone. Angie Weaver is the Director of Philanthropy and Development for the FamilieSCN2A Foundation, whose mission is to accelerate research, build community, and advocate to improve the lives of those affected by SCN2A-related disorders around the world. After her daughter Amelia was diagnosed with SCN2A, Angie became a passionate advocate for rare disease families—sharing her story to advance research, policy change, and awareness. She lives in northern Minnesota with her husband, Josh, and their youngest daughter, Penelope.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today, we're diving into a series of transformative events reshaping the industry landscape, from regulatory advancements to scientific breakthroughs and strategic business maneuvers.Kicking off with a significant regulatory update, the FDA's Rare Pediatric Disease Voucher Program has been rejuvenated through a newly signed government funding bill. This initiative is designed to expedite the development of treatments for rare pediatric diseases, offering crucial incentives to companies targeting this critical healthcare segment. By reauthorizing this program, there's an expectation of stimulating innovation and potentially bringing more treatments to market for conditions with limited existing therapies. This move underscores a broader commitment to addressing unmet medical needs through incentivized innovation.Turning to corporate developments, Eli Lilly is anticipating substantial growth in revenue despite facing pricing pressures on its key products, Mounjaro and Zepbound. The company projects revenues between $80 billion and $83 billion for 2026, marking a 25% increase from 2025 at the midpoint. This growth is attributed to strong product performance and strategic maneuvers within their pipeline. Eli Lilly has also made strategic decisions by optimizing its pipeline through dropping three clinical-stage drugs, including a gene therapy acquired via Prevail Therapeutics. This move points towards Lilly's focus on concentrating efforts on more promising candidates within their expansive pipeline. Additionally, Eli Lilly is expanding its GLP-1 franchise beyond metabolic diseases into immunology and inflammation with ongoing clinical trials in conditions such as asthma, psoriatic arthritis, Crohn's disease, and ulcerative colitis. This strategic expansion could lead to novel therapeutic options for chronic inflammatory diseases.Similarly, Bristol Myers Squibb is focusing on new growth drivers amid declining sales of legacy drugs. With $48.2 billion in revenue projected for 2025 largely stemming from newer products, BMS is strategically repositioning itself to maintain momentum amidst market changes.Novartis faces its largest patent expiry challenge but remains optimistic about its trajectory. CEO Vas Narasimhan suggests robust strategies are in place to counteract these patent expiries, indicating a strong focus on innovation and strategic planning to navigate these hurdles. Novartis is also refining its oncology strategy by cutting early-stage cancer candidates while adding new ones focused on promising therapeutics—a broader trend of adopting data-driven approaches to streamline drug development pipelines.Meanwhile, AbbVie continues its stronghold in the inflammatory bowel disease market with its blockbuster immunology drugs Skyrizi and Rinvoq. These products significantly contribute to AbbVie's $61.1 billion revenue, highlighting their commitment to maintaining leadership in immunology despite competitive pressures from rivals like Johnson & Johnson.Astellas has exceeded expectations with its cancer drug Vyloy overcoming a trial setback to quadruple sales in the third quarter fiscal year 2025 results. This success underscores the resilience and potential of innovative oncology treatments even when faced with clinical challenges.In financial markets, Veradermics successfully raised $256 million through its IPO, signaling strong investor interest in biotech firms with promising dermatological applications. Concurrently, Eikon Therapeutics marked the largest biotech IPO since 2024 with a $381 million listing on Nasdaq, reflecting renewed investor confidence in biotech ventures. Industry trends indicate a resurgence of interest in public markets exemplified by Eikon Therapeutics' upsized IPO alongside Veradermics' successful Support the show
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Drug development has long been a costly, trial-and-error effort, with nine out of ten clinical programs failing despite major scientific advances. One reason is that biological information remains fragmented in silos, and traditional R&D approaches often rely on narrow, task-specific datasets. Bioptimus aims to change this by using AI to build a foundation model that integrates multimodal, multiscale biological data into a single body of knowledge. The approach has particular promise for rare diseases, where patient numbers and data are scarce, preclinical models are poor, and development economics are challenging. We spoke with Jean-Philippe Vert, co-founder and CEO of Bioptimus, about the inherent messiness of biology, the potential to transform rare disease drug development with a foundation model, and how uncovering similarities between conditions could enable repurposing of existing drugs.
Bill Thach has had 9 lines of treatment, over 1,000 doses of chemo, and more scans than an airport. He runs ultramarathons for fun. He jokes about being his own Porta Potty. He became a father, then got cancer while his daughter was 5 months old. Today she is 8. He hides the worst of it so she can believe he stands strong, even when he knows that hiding has a cost.We talk about the illusion of strength, what it means to look fine when your body is falling apart, and how a random postcard in an MD Anderson waiting room led him to Man Up to Cancer, where he now leads Diversity and AYA Engagement. Fatherhood. Rage. Sex. Denial. Humor. Survival. All that and why the words good morning can act like a lifeline.RELATED LINKSFight Colorectal CancerCURE TodayINCA AllianceMan Up to CancerWeeViewsYouTubeLinkedInFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Please see the following USPI, US ISI, EU SmPC and Canadian Product Monograph for complete LIVMARLI product information: US Important Safety Information (https://livmarli.com/important-safety-information/) US Prescribing Information (https://files.mirumpharma.com/livmarli/livmarli-prescribinginformation.pdf?_ga=2.264585739.54248471… EU SmPC (https://ec.europa.eu/health/documents/community-register/html/h1704.htm) Canadian Product Monograph (https://files.mirumpharma.com/livmarli/livmarli-product-monograph-en.pdf) Learn more about the latest research for Mirum’s investigational therapies: MRM-3379 (https://mirumpharma.com/wp-content/uploads/2025/09/FXS-NDD-2025-Mouse-Model-Poster_FINAL.pdf), volixibat in PSC (https://s29.q4cdn.com/633867992/files/doc_presentations/2024/Jun/Mirum-VISTAS-and-VANTAGE-Interim-Analysis-Results-Presentation.pdf) and PBC (https://mirumpharma.com/wp-content/uploads/2025/05/Heneghan-M-EASL-2025-VANTAGE-28-week-data-with-volixibat-in-PBC.pdf), and brelovitug (https://www.natap.org/2025/AASLD/AASLD_22.htm). LIVMARLI is also currently being evaluated in the Phase 3 EXPAND study (https://clinicaltrials.gov/study/NCT06553768) in additional settings of cholestatic pruritus. References What is hepatitis delta? Hepatitis B Foundation. Accessed January 14, 2026. https://www.hepb.org/research-and-programs/hepdeltaconnect/what-is-hepatitis-delta/ Agarwal K, Jucov A, Dobryanska M, et al. Brelovitug (BJT-778) monotherapy achieved 100% virologic response in patients with chronic hepatitis D: on treatment week 48 phase 2 study results. Presented at: AASLD 2025; November 7-11, 2025; Washington, D.C. Sagnelli C, Sagnelli E, Russo A, Pisaturo M, Occhiello L, Coppola N. HBV/HDV co-infection: epidemiological and clinical changes, recent knowledge and future challenges. Life (Basel). 2021;11(2):169. doi:10.3390/life11020169 Negro F, Lok AS. Hepatitis D: a review. JAMA. 2023;330(24):2376-2387. doi:10.1001/jama.2023.23242 Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. Epidemiology of fragile X syndrome: A systematic review and meta‐analysis. doi:10.1002/ajmg.a.36511 See omnystudio.com/listener for privacy information.
Daelyn James, is someone who understands the power of owning your story. Diagnosed with cystic fibrosis at just four years old, she remembers what it felt like to go from a carefree childhood to one filled with treatments, doctor visits, and a reality she wasn't ready to face. For a long time, Daelyn kept her CF hidden because she was worried it would change how people saw her or limit what she could do.But in high school, everything shifted. Daelyn made the brave decision to stop running from her diagnosis and start embracing it as part of who she is. And that choice changed her life.Now 25, she proudly lives with CF and uses her experiences to raise awareness, connect with others, and offer hope. Her message is simple but powerful: even in the hardest moments, there is strength, there is goodness, and there is always a way forward.I'm so excited for you to hear her story.To connect with Daelyn visit her on IG: https://www.instagram.com/daelyn_j/To connect with Somer Love her IG is Love to Breath: https://www.instagram.com/lovetobreathe/ Please like, subscribe, and comment on our podcasts!Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Watch our podcasts on YouTube: https://www.youtube.com/@laurabonnell1136/featuredThanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en
“Climate change is the biggest health threat of our century, so we need to train clinicians for a future where it will alter disease patterns, the demand on health systems, and how care is delivered,” says Dr. Sandro Demaio, director of the WHO Asia-Pacific Centre for Environment and Health, underscoring the stakes behind the organization's first regionally-focused climate and health strategy. The five-year plan Dr. Demaio is leading aims to help governments in 38 countries with 2.2 billion people manage rising heat, extreme weather, sea-level change, air pollution and food insecurity by adapting health systems, protecting vulnerable populations, and reducing emissions from the healthcare sector itself. In this timely interview with Raise the Line host Michael Carrese, Dr. Demaio draws on his experiences in emergency medicine, global public health, pandemic response and climate policy to argue for an interconnected approach to strengthening systems and preparing a healthcare workforce to meet the heath impacts of growing environmental challenges. This is a great opportunity to learn how climate change is reshaping medicine, public health and the future of care delivery. Mentioned in this episode: WHO Asia-Pacific Centre for Environment and Health If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast
Shannon Burkett has lived about six lives. Broadway actor. SNL alum. Nurse. Filmmaker. Advocate. Cancer survivor. And the kind of person who makes you question what you've done with your day. She wrote and produced My Vagina—the stop-motion musical kind, not the cry-for-help kind—and built a global movement after her son was poisoned by lead dust in their New York apartment. Out of that came LEAD: How This Story Ends Is Up to Us, a documentary born from rage, science, and maternal defiance. We talked about everything from The Goonies to Patrick Stewart to the quiet rage of parenting in a country that treats public health like a hobby. This episode is about art, anger, resilience, and what happens when an unstoppable theater nerd turned science geek Jersey girl collides with an immovable healthcare system.RELATED LINKSShannon Burkett Official SiteLEAD: How This Story Ends Is Up to UsEnd Lead PoisoningLinkedIn: Shannon BurkettBroadwayWorld ProfileFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
What happens when you finally get the diagnosis that explains your whole life… and what doesn't it change at all?In this powerful episode of ListenABLE, Angus sits down with disability advocate and podcaster Kelly Berger, who shares her journey living with an ultra-rare form of congenital muscular dystrophy, Collagen 6. After years of misdiagnosis, Kelly received her genetic confirmation as an adult, a moment that brought clarity, community and a new sense of direction, without changing who she fundamentally is.Kelly speaks candidly about the emotional weight of diagnosis, navigating healthcare systems, building community, and what real accessibility actually looks like in daily life. From the realities of infrastructure in the US to the gaps between performative inclusion and genuine integration, this conversation goes well beyond awareness and into what meaningful change requires.We also dive into Kelly's podcast 'Wheel Talk', her advocacy work, and how she's helping reshape how disability, rare disease and identity are spoken about in public spaces.This is a conversation about resilience, identity, leadership and how visibility changes everything.Living with Collagen 6 congenital muscular dystrophyThe emotional impact of finally receiving a genetic diagnosisRare disease advocacy and disability representationAccessibility in infrastructure and public spacesNavigating healthcare systems and misdiagnosisDisability identity and prideBuilding community with and without disabilityLanguage, inclusion and allyshipPerformative vs meaningful disability representationCreating podcasts within the disability communityWhy visibility mattersKelly Berger is a disability advocate, podcaster and rare disease community leader living with Collagen 6 congenital muscular dystrophy. She is the co-host of Wheel Talk, a podcast exploring disability, identity and lived experience through honest, accessible conversations. Kelly works actively in advocacy, accessibility awareness and rare disease representation.ListenABLE is a podcast created to amplify disability voices, challenge stereotypes and explore what inclusion actually looks like in practice. Hosted by Angus O'Loughlin alongside Dylan Alcott, the show brings real stories, lived experience and meaningful conversations into the mainstream.Podcast: Wheel Talk with Kelly and Averyhttps://www.instagram.com/thewheeltalkpodcast/
Our guest this week is Hugh Hempel, a technology industry veteran turned health care entrepreneur and father of identical twin daughters with Niemann Pick Type C.Hugh and his wife Chris, have been married for 25 years and are the proud parents of identical twin daughters Addison & Cassidy. The girls were born in January 2004 and were both diagnosed with Niemann Pick Type C, a type of childhood ALS, a very rare neurogenerative disease. Despite heroic efforts to find a cure and treatments, very sadly the twins passed away in 2019 at age 15.After a successful tech career that included working at: IBM, Apple and Netscape, to name a few, and as a result of the twins' diagnosis, Hugh & Chris became outspoken advocates for rare disease research. They also created the Addi & Cassidy Fund, a resource for families impacted by Niemann Pick, Cyclodextrin, and a myriad of stories, and resources for families impacted by a wide range of rare diseases. Hugh has also served in a wide range of leadership positions, including Solutions Therapuetics, Sparkpr, Parent Advocist, N=1 Collaboration and Strainz. In January 2015 Hugh gave a TEDx Talk presentation entitled: Why I Changed My Mind About Medical Cannabis, coincidentally on Addi & Cassidy's 11th birthday. We'll hear about the Hempel family and about Hugh and Chris' quest to find a cure and treatments for rare and ultra rare diseases, all on this episode of the SFN Dad To Dad Podcast. This is the final sintallment of this two part interview. Show Links Phone - (775) 338-4844Email – Hugh@Hempelfamily.com LinkedIn – https://www.linkedin.com/in/hughhempel/?skipRedirect=true Website – N=1 Collaboration – https://www.n1collaborative.org/Website – Addi & Cassie Fund - https://addiandcassi.com/TEDx Talk – Why I Changed My Mind About Medical Cannabis (January2015) - https://www.youtube.com/watch?v=3N8QMeIsX2c&t=1sDr. Sanjay Gupta CNN story (11.22.14) -https://vimeo.com/420572177?fl=pl&fe=vlMayo Clinic NPT1 - https://www.mayoclinic.org/diseases-conditions/niemann-pick/symptoms-causes/syc-20355887MIPLYFFA Website - https://miplyffa.com/Special Fathers Network –SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 800+ SFN Mentor Fathers, who are raising kids with special needs, have said: “I wish there was something like this when we first received our child's diagnosis. I felt so isolated. There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through.”SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations.Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channel/UCzDFCvQimWNEb158ll6Q4cA/videosPlease support the SFN. Click here to donate: https://21stcenturydads.org/donate/Special Fathers Network: https://21stcenturydads.org/ SFN Mastermind Group - https://21stcenturydads.org/sfn-mastermind-group/Special thanks to SFN Mentor Father, SFN Mastermind Group dad and 21CD board member Shane Madden for creating the SFN jingle on the front and back end of the podcast..
We have a special episode of Raise the Line on tap today featuring the debut of host Dr. Parsa Mohri, who will now be leading our NextGen Journeys series that highlights the fresh perspectives of learners and early career healthcare professionals around the world on education, medicine, and the future of care. Parsa was himself a NextGen guest in 2024 as a medical student at Acibadem University in Turkey. He's now a general physician working in the Adult Palliative Care Department at Şişli Etfal Research and Training Hospital in Istanbul. Luckily for us, he's also continuing in his role as a Regional Lead for the Osmosis Health Leadership Initiative (OHLI). For his first guest, Parsa reached out to a former colleague in the Osmosis family, Negeen Farsio, who worked with him as a member of OHLI's predecessor organization, the Osmosis Medical Education Fellowship. Negeen is now a graduate student in medical anthropology at Brunel University of London, a degree which she hopes will inform her future work as a clinician. “Medical anthropology is a field that looks at healthcare systems and how human culture shapes the way we view different illnesses, diseases, and treatments and helps you to see the full picture of each patient.” You are sure to enjoy this heartfelt conversation on how Negeen's lived experience as a patient and caregiver have shaped her commitment to mental health and patient advocacy, and how she hopes to marry humanity with medicine in a world that yearns to heal. If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast
Michael Kramer was 19 when cancer ambushed his life. He went from surfing Florida beaches to chemo, radiation, and a bone marrow transplant that left him alive but carrying a chronic disease. He had necrosis in his knees and elbows, lost his ability to surf for years, and found himself stuck in hospitals instead of the ocean. Yet he adapted. Michael picked up a guitar, built Lego sets, led support groups, and started sharing his story on Instagram and TikTok.We talk about masculinity, identity, and what happens when the thing that defines you gets stripped away. He opens up about dating in Miami, freezing sperm at a children's hospital, awkward Uber-for-sperm moments with his brother, and how meditation became survival. Michael lost his father to cancer when he was a teen, and that grief shaped how he lives and advocates today. He is funny, grounded, and honest about the realities of survivorship in your twenties. This episode shows what resilience looks like when you refuse to walk it off and choose to speak it out loud instead.RELATED LINKSMichael Kramer on InstagramMichael Kramer on TikTokMichael and Mom Inspire on YouTubeAshlee Cramer's BookUniversity of Miami Sylvester Comprehensive Cancer CenterStupid Cancer FEEDBACKLike this episode? Rate and review Walk It Off on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Hello Everyone! I hope your holidays have been well! here is a new compilation for you all, I hope you enjoy it! Story list: In The Land Of Black And White DECAY If you're armed and at the Glenmont metro, please shoot me My patient spent eight million years under a bench at the Glenmont metro Charles Bonnet Syndrome I Have A Condition that makes me hunt people My Doctor Told Me To Keep a Journal Of My Symptoms Every Year on My Birthday I have to Die Hosted by Simplecast, an AdsWizz company. See https://pcm.adswizz.com for information about our collection and use of personal data for advertising.
Daniel Garza had momentum. Acting roles, directing gigs, national tours lined up. Then anal cancer stopped everything. Radiation wrecked his body, stripped him of control, and left him in diapers, staring down despair. His partner, Christian Ramirez, carried him through the darkest nights, changed his wounds, fought hospitals, and paid the price with his own health. Christian still lives with permanent damage from caregiving, but he stayed anyway.Together they talk with me about masculinity, sex, shame, friendship, and survival. They describe the friendships that vanished, the laughter that kept them alive, and the brutal reality of caregiving no one prepares you for. We get into survivor guilt, PTSD, and why even rocks need rocks. Daniel is now an actor, director, and comedian living with HIV. Christian continues to tell the unfiltered truth about what it takes to be a caregiver and stay whole. This episode gives voice to both sides of the cancer experience, the survivor and the one who stands guard. RELATED LINKSDaniel Garza IMDbDaniel Garza on InstagramDaniel Garza on FacebookChristian Ramirez on LinkedInLilmesican Productions Inc (Daniel & Christian)Stupid Cancer FEEDBACKLike this episode? Rate and review Walk It Off on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
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