Podcasts about rare diseases

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

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/  

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

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

Today, we're joined by Professor Matthew Wood, a leading figure in neuroscience and RNA-based therapeutics. He is Professor of Neuroscience at the University of Oxford, Deputy Head of the Medical Sciences Division, and Director of both the MDUK Oxford Neuromuscular Centre and the Oxford-Harrington Rare Disease Centre, a groundbreaking partnership between the University of Oxford and Harrington Discovery Institute dedicated to accelerating therapies for rare genetic diseases affecting millions worldwide.In today's episode we discuss his vision for making antisense oligonucleotides (or ASOs) and gene editing more modular, more scalable, and faster by collaborating with regulators, scientists, and patient groups to bring hope to those with rare neuromuscular and genetic conditions.With rare disease day coming up just next week, I hope you enjoy the insights that Professor Wood shares on the future of the fight against rare disease.01:23 – Meet Matthew Wood07:26 – The Oxford-Harrington Rare Disease Centre10:33 – Collaborations, philanthropy, and industry partnerships13:55 – Key challenges in rare disease therapy development20:00 – Modular and scalable platforms for ASOs28:08 – Scaling gene editing like CRISPR for rare diseases32:38 – Role of AI and computational tools in acceleration37:28 – Future breakthroughs in rare disease treatments44:07 – Advice for new researchers in the fieldInterested in being a sponsor of an episode of our podcast? Discover how you can get involved here! Stay updated by subscribing to our newsletterTo dive deeper into the topic: Prader Willi syndrome: five much-anticipated therapies poised for approval First-ever approval for Barth Syndrome treatment: what does this mean for ultra-rare disease therapeutics? When rare diseases are not so rare after all: A closer look at where and why this happens

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

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

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

In this special episode, recorded live at the 2025 Genomics England Research Summit, host Adam Clatworthy is joined by parents, clinicians and researchers to explore the long, uncertain and often emotional journey to a genetic diagnosis. Together, they go behind the science to share what it means to live with uncertainty, how results like variants of uncertain significance (VUS) are experienced by families, and why communication and support matter just as much as genomic testing and research. The panel discuss the challenges families face when a diagnosis remains out of reach, the role of research in refining and revisiting results over time, and how collaboration between researchers, clinicians and participants could help shorten diagnostic journeys in the future. Joining Adam Clatworthy, Vice-Chair for the Participant Panel, on this episode are: Emma Baple – Clinical geneticist and Medical Director, South West Genomic Laboratory Hub  Jamie Ellingford – Lead genomic data scientist, Genomics England  Jo Wright – Member of the Participant Panel and Parent Representative for SWAN UK  Lisa Beaton - Member of the Participant Panel and Parent Representative for SWAN UK  Linked below are the episodes mentioned in the episode:  What is the diagnostic odyssey?  What is a Variant of Uncertain Significance?  Visit the Genomics England Research Summit website, to get your ticket to this years event. You can download the transcript, or read it below. Sharon: Hello, and welcome to Behind the Genes. My name is Sharon Jones and today we're bringing you a special episode recorded live from our Research Summit held in June this year. The episode features a panel conversation hosted by Adam Clatworthy, Vice-Chair of the Participant Panel. Our guests explore navigating the diagnostic odyssey, the often-complex journey to reaching a genetic diagnosis. If you'd like to know more about what the diagnostic odyssey is, check our bitesize explainer episode, ‘What is the Diagnostic Odyssey?' linked in the episode description. In today's episode you may hear our guests refer to ‘VUS' which stands for a variant of uncertain significance. This is when a genetic variant is identified, but its precise impact is not yet known. You can learn more about these in another one of our explainer episodes, “What is a Variant of Uncertain Significance?” And now over to Adam. -- Adam: Welcome, everyone, thanks for joining this session. I'm always really humbled by the lived experiences and the journeys behind the stories that we talk about at these conferences, so I'm really delighted to be hosting this panel session. It's taking us behind the science, it's really focusing on the people behind the data and the lived experiences of all the individuals and the families who are really navigating this system, trying to find answers and really aiming to get a diagnosis – that has to be the end goal. We know it's not the silver bullet, but it has to be the goal so that everyone can get that diagnosis and get that clarity and what this means for their medical care moving forwards.    So, today we're really going to aim to demystify what this diagnostic odyssey is, challenging the way researchers and clinicians often discuss long diagnostic journeys, and we'll really talk about the vital importance of research in improving diagnoses, discussing the challenges that limit the impact of emerging research for families on this odyssey and the opportunities for progress. So, we've got an amazing panel here. Rather than me trying to introduce you, I think it's great if you could just introduce yourselves, and Lisa, I'll start with you. Lisa: Hi, I'm Lisa Beaton and I am the parent of a child with an unknown, thought to be neuromuscular, disease. I joined the patient Participant Panel 2 years ago now and I'm also a Parent Representative for SWAN UK, which stands of Syndromes Without A Name. I have 4 children who have all come with unique and wonderful bits and pieces, but it's our daughter who's the most complicated. Adam:  Thank you. Over to you, Jo. Jo:  Hi, I'm Jo Wright, I am the parent of a child with an undiagnosed genetic condition.  So I've got an 11-year-old daughter. 100,000 Genomes gave us a VUS, which we're still trying to find the research for and sort of what I'll talk about in a bit.  And I've also got a younger daughter. I joined the Participant Panel just back in December. I'm also a Parent Rep for SWAN UK, so Lisa and I have known each other for quite a while through that. Adam:  Thank you, Jo.  And, Jamie, you're going to be covering both the research and the clinician side and you kind of wear 2 hats, so, yeah, over to you. Jamie:  Hi, everyone, so I'm Jamie Ellingford and, as Adam alluded to, I'm fortunate and I get to wear 2 hats. So, one of those hats is that I'm Lead Genomic Data Scientist for Rare Disease at Genomics England and so work as part of a really talented team of scientists and engineers to help develop our bioinformatic pipelines, so computational processes. I work as part of a team of scientists and software engineers to develop the computation pipelines that we apply at Genomics England as part of the National Health Service, so the Genomic Medicine Service that families get referred to and recruited to, and we try to develop and improve those. So that's one of my hats. And the second of those is I am a researcher, I'm an academic at the University of Manchester, and there I work really closely with some of the clinical teams in the North West to try and understand a little bit more about the functional impact of genomic variants on kind of how things happen in a cell. So, we can explore a little bit more about that but essentially, it's to provide a little bit more colour as to the impact that that genomic variant is having. Adam: Great, thank you, Jamie. Over to you, Emma. Emma: My name's Emma Baple, I'm an academic clinical geneticist in Exeter but I'm also the Medical Director of the South West genomic laboratory hub, so that's the Exeter and Bristol Genomics Laboratory. And I wear several other hats, including helping NHS England as the National Specialty Advisor for Genomics. Adam: Thank you all for being here. I think it's really important before we get into the questions just to ground ourselves in like those lived experiences that yourself and Jo and going through. So, Lisa, I'm going to start with you. The term ‘diagnostic odyssey' gets bandied around a lot, we hear about it so many times, but how does that reflect your experience that you've been through and what would you like researchers and clinicians to understand about this journey that you're on, essentially? Lisa: So I think ours is less an odyssey and more of a roller-coaster, and I say that because we sort of first started on a genetic journey, as it were, when my daughter was 9 weeks of age and she's now 16½ – the half's very important – and we still have no answers. And we've sort of come a bit backwards to this because when she was 6 months old Great Ormond Street Hospital felt very strongly that they knew exactly what was wrong with her and it was just a case of kind of confirmation by genetics. And then they sent off for a lot of different myasthenia panel genes, all of which came back negative, and so having been told, “Yes, it's definitely a myasthenia, we just need to know which one it is,” at 4 years of age that was removed and it was all of a sudden like, “Yeah, thanks, sorry.” And that was really hard actually because we felt we'd had somewhere to hang our hat and a cohort of people with very similar issues with their children, and then all of a sudden we were told, “No, no, that's not where you belong” and that was a really isolating experience. I can remember sort of saying to the neuromuscular team, “Well is it still neuromuscular in that case?” and there was a lot of shrugging of shoulders, and it just…  We felt like not only had we only just got on board the life raft, then we'd been chucked out, and we didn't even have a floaty. And in many ways I think I have made peace with the fact that we don't have a genetic diagnosis for our daughter but it doesn't get easier in that she has her own questions and my older children – one getting married in August who's already sort of said to me, you know, “Does this have implications for when we have children?”  And those are all questions I can't answer so that's really hard. Adam:  Thank you, Lisa. Yourself, Jo, how would you describe the odyssey that you're currently experiencing? Jo: So my daughter was about one when I started really noticing that she was having regressions. They were kind of there beforehand but, I really noticed them when she was one, and that's when I went to the GP and then got referred to the paediatrician. So initially we had genetic tests for things like Rett syndrome and Angelman syndrome, which they were all negative, and then we got referred on to the tertiary hospital and then went into 100,000 Genomes. So we enrolled in 100,000 Genomes at the beginning of 2017, and we got our results in April of 2020, so obviously that was quite a fraught time. Getting our results was probably not as you would want to do it because it was kind of over the phone and then a random letter. So, what I was told in that letter was that a variant of uncertain significance had been identified and they wanted to do further research to see if it might be more significant. So we were to be enrolled into another research project called Splicing and Disease, which wasn't active at the time because everything had been put on hold for COVID, but eventually we went into that. So, I didn't know what the gene was at that point, when I eventually got the form for going to get her bloods done…  So that went off and then that came back and the geneticist said, “That gives us some indication that it is significant.” So, since that point it's been trying to find more information and research to be able to make it a diagnosis. There have been 2 sort of key things that have happened towards that but we're still not there. So one of the things is that a research paper came out earlier this year so that's kind of a little bit more evidence, it's not going to give us a diagnosis but it kind of, you know, sits there. And the other thing is that my geneticist said, “Actually, yeah, it looks like it's an important change.”  That's as far as we've got. So we've still got work to do to make it a diagnosis or not.  Obviously if it is a diagnosis, it is still a one-of-a-kind diagnosis, so it doesn't give me a group to join or that kind of thing. But now I've got that research paper that I've read and read, and asked ChatGPT to verify that I've understood it right in some places, you know, with the faith that we put into ChatGPT (laughs), I've got a better understanding and I've got something now that I can look back on, the things that happened when my daughter was one, 2, 3, 4 and her development was all over the place and people thought that I was slightly crazy for the things I was saying, that “Actually, no, I can see what's happening.” So, it's like the picture's starting to come into focus but there's work to do. I haven't got a timeframe on that, I don't know when it's going to come together. And I always say that I'm a prolific stalker of the postman; ever since our first genetic tests you're just constantly waiting for the letters to drop through the door. So a diagnostic odyssey to me is just waiting for random events. Adam: I think what you've both kind of really clearly elaborated on is how you're the ones that are having to navigate this journey, you're the ones that are trying to piece this puzzle together, and the amount of time you're investing, all whilst navigating and looking after your child and trying to cope with the daily lived experience as well. And something you've both touched on that I'd love to draw out more is about how exactly was the information shared with you about the lack of diagnosis or the VUS or what's going on, because in our case you get this bit of paper through the post that has all these numbers and it's written in clinical speak and we had no conversation with the geneticist or the doctors. You see this bit of paper and you're reading it, scared for what the future will hold for your child, but I'd love to know like how were you communicated whilst all this is going on, how did you actually find out the next steps or any kind of future guidance. Lisa: So I think in our case we kept sort of going onto neuromuscular appointments, and I think for probably the first 5 years of my daughter's life I kind of had this very naïve thought that every time we turned up to an appointment it would be ‘the one' and then…   I think it would've been really helpful actually in those initial stages if they had said to us, “Actually, we don't know when this is going to happen, if it's even going to happen, you need to kind of prepare yourself for that.” It sounds fairly obvious to say but you don't know what you don't know. And in some ways we were getting genetic test results back for some really quite horrible things and they would tell us, “Oh it's good news, this mitochondrial disorder hasn't come up,” and so part of you is like, “Yay!” but then another part of you is thinking, “Well if it's not that what is it?” And we've very much kind of danced around and still don't really have an answer to whether it's life-limiting. We know it's potentially life-threatening and we have certain protocols, but even that is tricky. We live in North Yorkshire, and our local hospital are amazing. Every time we go in, if it's anything gastro-related, they say to me, “What's the protocol from Great Ormond Street?” and I say, “We don't have one” (laughs) and that always causes some fun. We try to stay out of hospitals as much as we absolutely can and do what we can at home but, equally, there's a point where, you know, we have to be guided by where we're going with her, with the path, and lots of phone calls backwards and forwards, and then is it going to be a transfer down to Great Ormond Street to manage it. And actually the way I found out that nothing had been found from 100,000 Genomes was in a passing conversation when we had been transferred down to Great Ormond Street and we'd been an inpatient for about 6 weeks and the geneticist said to me, “So obviously with you not having a diagnosis from the 100,000 Genomes…” and I said, “Sorry?  Sorry, what was that?  You've had the information back?”  And she said, “Well, yes, did nobody write to you?” and I said, “No, and clearly by my shock and surprise.” And she was a bit taken aback by that, but it happened yet again 2 years later (laughs) when she said, “Well you know everything's been reanalysed” and I said, “No.”  (Laughs)  And, so that's very much, it still feels an awful lot like I'm doing the heavy lifting because we're under lots of different teams and even when they're working at the same hospital they don't talk to each other. And I do understand that they're specialists within their own right, but nobody is really looking at my daughter holistically, and there are things that kind of interrelate across.    And at one of the talks I attended this morning they were talking about the importance of quality of life, and I think that is something that has to be so much more focused on because it's hard enough living without a diagnosis, but when you're living with a bunch of symptoms that, I think the best way I can describe it is at the moment we've got the spokes of the umbrella but we don't have the wrapper, and we don't know where we're going with it. We can't answer her questions, we can't even necessarily know that we're using the most effective treatments and therapies for her, and she's frustrated by that now, being 16, in her own right, as well as we are. And I'm panicking about the navigation towards Adult Services as well because at the minute at least we have a clinical lead in our amazing local paediatrician but of course once we hit and move into that we won't even have him and that's a really scary place to be, I think. Adam: Jo, is there anything you wanted to add on that in terms of how you've been communicated to whilst all this is going on? Jo: Yeah, so I think part of what makes it difficult is if you're across different hospitals because they're not necessarily going to see the same information. So obviously it was a bit of a different time when I got our results, but I got our results on a virtual appointment with a neurologist in one hospital, in the tertiary hospital, and because he could see the screen because it was the same hospital as genetics, and he said, “Oh you've got this” and then the letter came through later. When I had my next appointment with the neurologist in our primary hospital, or secondary care, whatever it's called, in that hospital, he hadn't seen that, so I'm telling him the results, which isn't ideal, but it happens quite a lot. What I think is quite significant to me is the reaction to that VUS.  I have to give it, the doctors that look after my daughter are brilliant, and I'm not criticising them in any way but their reaction to a VUS is “I'm so grateful for the persistence to get to a diagnosis.” Neurologists are a bit more like “Oh it's a VUS so it might be significant, it might be nothing.” Actually, as a patient, as in a parent, you actually want to know is it significant or not, “Do I look at it or not?” And, I mean, like I said, there were no research papers to look at before anyway until a few months ago so I didn't have anything to look at, but I didn't want to look at it either because you don't want to send yourself off down a path. But I think that collective sort of idea that once someone gets a VUS we need a pathway for it, “What do we do with it, what expectation do we set the patients up with and what is the pathway for actually researching further?” because this is where we really need the research. Adam:  Thank you, Jo. So, Emma, over to you in terms of how best do you think clinicians can actually support patients at navigating this odyssey and what's the difference between an initial diagnosis and a final diagnosis and how do you then communicate that effectively to the patients and their family?   Emma: So I think a key thing for me, and it's come up just now again, is that you need to remember as a doctor that the things you say at critical times in a patient's or parent's journeys they will remember – they'll remember it word for word even though you won't – and thinking about how to do that in the most sensitive, empathetic, calm, not rushed way is absolutely key.   And there are some difficulties with that when you're in a very high-pressure environment but it is absolutely crucial, that when you are communicating information about test results, when you're talking about doing the test in the first place, you're consenting the family, you're explaining what you're trying to do and those conditions, you balance how much information you give people.    So, you were talking earlier about “So you haven't got this diagnosis, you haven't got that diagnosis,” I often think it's…  We're often testing for numerous different conditions at the same time, I couldn't even list them all to the parents of the children or the patient that I'm testing. It's key to try and provide enough information without overwhelming people with so much information and information on specific conditions you are just thinking about as a potential.  Sometimes very low down your list actually but you can test for them.    Because people go home and they use the internet and they look things up and they get very, very worried about things. So, for me it's trying to provide bite-sized amounts of information, give it the time it deserves, and support people through that journey, tell them honestly what you think the chance of finding a diagnosis is. If you think it's unlikely or you think you know, sharing that information with family is helpful.   Around uncertainty, I find that a particular challenge. So, I think we've moved from a time when we used to, in this country, declare every variant we identified with an uncertain significance. Now, if we remember that we've all got 5 million variants in our genome, we've all got hundreds and hundreds… thousands and thousands, in fact, of variants of uncertain significance in our genetic code. And actually, unless you think a variant of uncertain significance genuinely does have a probability of being the cause of a child's or a patient's condition, sharing that information can be quite harmful to people.    We did a really interesting survey once when we were writing the guidelines for reporting variants of uncertain significance a few years ago. We asked the laboratories about their view of variants of uncertain significance and we asked the clinicians, and the scientists said, “We report variants of uncertain significance because the clinicians want them” and the clinicians said, “If the labs put the variant of uncertain significance on the report it must be important.” And of course, if you're a parent, if the doctor's told you the variant is a variant of uncertain significance of course you think it's important.    So, we should only be sharing that information, in my opinion, if it genuinely does have a high likelihood of being important and there are things that we can do. And taking people through that journey with you, with the degree of likelihood, the additional tests you need to do and explaining to them whether or not you think you will ever clarify that, is really, really key because it's very often that they become the diagnosis for the family.  Did I cover everything you think's important, both of you?  Lisa: I think the one thing I would say is that when you are patient- or parent-facing, the first time that you deliver that news to the parent… you may have delivered that piece of news multiple times and none of us sit there expecting you to kind of be overcome with emotion or anything like that but, in the same way that perhaps you would've had some nerves when, particularly if it was a diagnosis of something that was unpleasant, you know, to hold onto that kind of humanity and humility. Because for those patients and parents hearing that news, that is the only time they're ever hearing that, and the impact of that, and also, they're going on about with their day, you don't know what else they're doing, what they're juggling.    We're not asking you all to be responsible for kind of, you know, parcelling us up and whatnot but the way information is imparted to us is literally that thing we are all hanging our hats on, and when we're in this kind of uncertainty, from my personal experience I'm uncomfortable, I like to be able to plan, I'm a planner, I'm a researcher, I like to sort of look it up to the nth degree and that, and sitting in a place without any of that is, it's quite a difficult place to be. And it's not necessarily good news for those parents when a test comes back negative, because if it's not that then what is it, and that also leaves you feeling floundering and very isolated at times.  Adam: Yeah, and you touched upon the danger of like giving too much information or pushing families down a particular route, and then you have to pull them out of it when it's not that.   You talked about the experience you had, you felt like you'd found your home and then it's like, “Well, no, no, sorry, actually we don't think it's that.” And you've invested all of your time and your emotion into being part of that group and then you're kind of taken away again. So it's to the point where you have to be really sure before you then communicate to the families, and obviously in the meantime the families are like, “We just need to know something, we need to know,” and it's that real fine line, isn't it?    But, Jamie, over to you. Just thinking about the evolving nature of genomic diagnosis, what role does research play in refining or confirming a diagnosis over time?  Jamie: So it's really, really difficult actually to be able to kind of pinpoint one or 2 things that we could do as a community of researchers to help that journey, but perhaps I could reflect on a couple of things that I've seen happen over time which we think will improve things. And one of that's going back to the discussion that we've just had about how we classify genetic variants. And so, behind that kind of variant of uncertain significance there is a huge amount of effort and emotion from a scientist's side as well because I think many of the scientists, if not all, realise what impact that's going to have on the families.   And what we've tried to do as a community is to make sure that we are reproducible, and if you were to have your data analysed in the North West of England versus the South West that actually you'd come out with the same answer. And in order to do that we need guidance, we need recommendations, we need things that assist the scientists to actually classify those variants.  And so, what we have at the moment is a 5 point scale which ranges from benign to likely benign, variant of uncertain significance, unlikely pathogenic variant and pathogenic variant. It's objective as to how we classify a variant into one of those groups and so it's not just a gut feeling from a scientist, it's kind of recordable measurable evidence that they can provide to assist that classification.   So in many instances what that does is provide some uncertainty, as we've just heard, because it falls into that zone of variant of uncertain significance but what that also does is provide a framework in which we can generate more evidence to be able to classify it in one direction or another to become likely pathogenic or to become likely benign. And as a research community we're equipped with that understanding –– and not always with the tools but that's a developing area – to be able to do more about it.   What that doesn't mean is that if we generate that evidence that it can translate back into the clinic, and actually that's perhaps an area that we should discuss more. But kind of just generating that evidence isn't always enough and being able to have those routes to be able to translate back that into the hands of the clinicians, the clinical scientists, etc, is another challenge. Adam:  And how do you think we can drive progress in research to deliver these answers faster, to really try and shorten those diagnostic journeys, like what are the recommendations that you would say there? Jamie:  So being able to use the Genomics England data that's in the National Genomic Reference Library, as well as kind of other resources, has really transformed what we can do as researchers because it enables teams across the UK, across the world to work with data that otherwise they wouldn't be able to work with.   Behind that there's an infrastructure where if researchers find something which they think is of interest that can be reported back, it can be curated and analysed by teams at Genomics England and, where appropriate, kind of transferred to the clinical teams that have referred that family. And so having that pathway is great but there's still more that we can do about this. You know, it's reliant on things going through a very kind of fixed system and making sure that clinicians don't lose contact with families – you know, people move, they move locations, etc. And so, I think a lot of it is logistical and making sure that the right information can get to the right people, but it all falls under this kind of umbrella of being able to translate those research findings, where appropriate, into clinical reporting.   Adam:  Thank you. And, Emma, is there anything you would add in terms of like any key challenges that you think need to be overcome just to try and shorten the journeys as much as possible and find the answers to get a diagnosis?  Emma: I think trying to bridge that gap between some of the new technologies and new approaches that we've got that we can access in a research context and bringing those into diagnostics is a key area to try to reduce that diagnostic odyssey, so I really want to see the NHS continuing to support those sorts of initiatives.   We're very lucky, as Jamie said, the National Genomic Research Library has been fundamental for being able to reduce the diagnostic odyssey for large numbers of patients, not just in this country but around the world, and so trying to kind of look at how we might add additional data into the NGRL, use other research opportunities that we have in a more synergistic way with diagnostics I think is probably key to being able to do that.    We are very lucky in this country with the infrastructure that we've got and the fact that everything is so joined up. We're able to provide different opportunities in genomics for patients with rare conditions that aren't so available elsewhere in the world.  Adam: Great, thank you. I think we're it for time, so thank you very much to the panel. And I'd just say that if you do have any further questions for ourselves as participants then we're only too happy to pick those up. Thank you for lasting with us ‘til the end of the day and hope to see you soon.  -- Sharon: A huge thank you to our panel, Adam Clatworthy, Emma Baple, Jo Wright, Lisa Beaton and Jamie Ellingford, for sharing their insights and experiences. Each year at the summit, the Behind the Genes stage hosts podcast style conversations, bringing together researchers, clinicians and participants to discuss key topics in genomics.  If you're interested in attending a future Genomics England Research Summit, keep an eye out on our socials. If you'd like to hear more conversations like this, please like and subscribe to Behind the Genes on your favourite podcast app. Thank you for listening.    I've been your host, Sharon Jones. The podcast was edited by Bill Griffin at Ventoux Digital and produced by Deanna Barac.

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.

We begin the show with a remembrance of Alex Pretti, a 37-year-old ICU nurse who was shot and killed by federal agents on the streets of Minneapolis.The killing of Pretti has unnerved the nation as a whole, but also had an even more profound impact on the tight-knit community of front-line workers who serve as the foundation of our healthcare system. In a time of crisis, they are looking for health leaders to meet the moment and offer unconditional support.Not every event in a fast-paced world requires a statement or action from health brands, but when an ICU nurse is the victim of both senseless violence and vicious disinformation, the moment arises.  As for the main interview, pharma editor Lecia Bushak speaks with Haymarket Media colleague Vera Luxner at Rare Disease Advisor about some upcoming initiatives related to Rare Disease Month, which takes place in February.Then, editor-in-chief Jameson Fleming and editor-at-large Steve Madden join the Trends segment to discuss the recent launches of the nomination period for the 2026 Agency 100, the MM+M Awards and the Healthcare Marketers Survey.Music: “Deep Reflection” by DP and Triple Scoop Music. Check us out at: mmm-online.com Follow us: YouTube: @MMM-onlineTikTok: @MMMnewsInstagram: @MMMnewsonlineTwitter/X: @MMMnewsLinkedIn: MM+M To read more of the most timely, balanced and original reporting in medical marketing, subscribe here.Music: “Deep Reflection” by DP and Triple Scoop Music. Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.

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/

Running for Time: Chad Eddy's Mission Against Cystic FibrosisFor Chad Eddy, the fight against cystic fibrosis isn't abstract, it's personal. He's the proud uncle of two nieces born with CF. One is still living.When his goddaughter was born in 1998, (he asked their names not be used) the second of his nieces diagnosed with cystic fibrosis, Chad's world changed. He quickly realized that simply walking in charity events or asking friends and family to donate wasn't enough. Love demanded action. Hope demanded movement.He wanted to do more. He wanted to be part of the generation that finds the cure. It's his motto.In 2017, Chad's heart broke when one of his nieces lost her courageous fight with CF. But even in grief, he found his purpose. He made a promise to her, and to his living niece, and to every person living with CF, that he would keep running toward a cure.Now, Chad isn't running for a medal. He's running for time. Time for those who can't breathe freely. Time for families waiting on a cure. Time for the breakthroughs that can change everything.His mission has taken shape in an extraordinary endurance challenge: running 6.5 miles every 6.5 hours for 65 straight hours , all to raise $65,000 for cystic fibrosis research.This is not a race. It's a test of heart, exhaustion, and purpose, run one step, one story, one promise at a time.Already, more than 80 donors have stepped forward, contributing over $11,000 to support Chad's mission. But this is no longer just a personal challenge, t's a movement.Through a short documentary film, that movement, and its heartbeat, will be captured forever.For everyone still fighting for breath, Chad runs because every moment counts. And he won't stop until cystic fibrosis is a disease of the past.For more information and to donate:: https://fundraise.cff.org/roseup2025/65milesin65hoursforCF To see the trailer for Generation: Cure: https://youtu.be/YyI_rNXuNAI?si=pk_tBY3NZkdtdfTn 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

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

When a toddler with a neurodevelopmental delay, poor muscle tone, and no hair came to Caleb Bupp's genetics clinic, it led not only to the discovery of a new, ultra-rare disease, but the identification of a potential treatment in DFMO, a drug long used to treat a chronic parasitic disease. Bupp is now collaborating with others including Every Cure, a nonprofit biotech working to expand the use of repurposed drugs. While a number of patients have begun using the drug, the U.S. Food and Drug Administration has urged the group to move forward with a clinical trial. We spoke to Bupp, pediatric geneticist at Corewell Health Helen DeVos Children's Hospital in Grand Rapids, Michigan, about the discovery of the condition known as Bachmann-Bupp syndrome, how he and his colleagues identified a potential treatment in an existing drug, and the path forward.

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.

Synopsis: At a moment when biotech is rethinking growth, innovation, and patient impact, Alok Tayi sits down with Christophe Bourdon, Chief Executive Officer of LEO Pharma, to explore what it truly means to build a purpose-driven, commercial-stage biotech. Drawing on three decades across Sanofi, Alexion, Amgen, and now LEO Pharma, Christophe shares a clear conviction: innovation only matters when it meaningfully changes patients' lives. At LEO Pharma, that belief is shaping a focused strategy in medical dermatology, where over one-third of the global population is affected and thousands of skin diseases still lack approved treatments. The conversation spans LEO Pharma's evolution into a nearly $2B growth company, the rise of first-in-class therapies in atopic dermatitis and chronic hand eczema, and why formulation science, rare disease execution, and “white-glove” patient support are essential to changing standards of care. Christophe also offers sharp perspectives on AI-enabled scouting, the accelerating innovation coming out of China, and why biotech must resist “me-too” products in favor of true clinical breakthroughs. From JPMorgan Healthcare Conference insights to deeply human stories of rare disease care at 4 a.m., this episode is a masterclass in disciplined growth, differentiated innovation, and patient-first leadership. Biography: Christophe joined LEO Pharma as CEO in April 2022 and has since led the company through a strategic transformation, sharpening its focus on innovation and external partnerships. Under his leadership, LEO Pharma has accelerated growth in key markets, advanced its pipeline, and strengthened its culture, reinforcing its position as a global leader in medical dermatology. Before joining LEO Pharma, he served as CEO of Orphazyme A/S. Earlier in his career, he held senior leadership roles at Amgen, including Senior Vice President and General Manager for the U.S. Oncology Business, and at Alexion as Senior Vice President, EMEAC, overseeing the commercial development of ultra-orphan therapies across 40 countries. Christophe holds an MBA from the International Institute for Management Development (IMD) in Lausanne, Switzerland, and a B.A. from the Institut Supérieur de Gestion (ISG) in Paris, France.

When Patricia Weltin's daughters were diagnosed with Ehlers-Danlos Syndrome after years of uncertainty, she turned her frustration into a global movement. In this episode of Sounds of Science, Patricia shares the story behind Beyond the Diagnosis, a powerful art and advocacy initiative that uses portraiture to humanize rare diseases and inspire empathy in medical professionals, students, and communities around the world. From medical schools to courthouses and even Parisian galleries, the traveling exhibit is reshaping how we see children with rare diseases—not as diagnoses, but as vibrant individuals with stories worth telling. Tune in to hear how Patricia's mission is bridging the gap between science and compassion, and how you can help carry it forward.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

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.

Fan Mail: Tell Wendy how you're saying yes to yourself!Say YES to a Space to Dream Solo Retreat at the Phineas Wright House. Learn more and save your date here. Explore other opportunities to say YES to yourself here. Welcome to the Say YES to Yourself! Podcast—the show for midlife women, empty nesters, and anyone navigating life after divorce, burnout, or big transitions. If you're ready to shed cultural expectations, reconnect with your true self, and put your joy first—you're in the right place.In this episode, Wendy is joined by Ashley Hamic, rare disease mom and founder of Wishwear Accessories. What started as a wheelchair blanket for a friend has grown into a joyful, functional brand, proving that when you say yes to yourself, beautiful things unfold.They explore:Why joy needs to be planned, engaged with, and celebratedHow rare disease families find meaning in the smallest glimmersThe power of setting intentional rhythms in your relationshipThis is a conversation about embracing chaos, leaning into what you love, and discovering that if you set the intention for joy, it will come to you. Press play and discover how contrast can deepen your capacity for joy.Connect with Ashley:Instagram @wishwearaccessoriesFacebookLinkedInTikTokWishWearAccessories.comReferenced in this Episode:The Kind of Leadership That Sparks Innovation | Elizabeth BieniekFrom Life Sentence to Second Chances: A Story of Freedom & Redemption | Judy HendersonOnce Upon a Gene PodcastThe Plated Prisoner Series________________________________________________________________________________________ Connect with Wendy: LinkedinInstagram: @phineaswrighthouseFacebook: Phineas Wright House Website: Phineas Wright House PWH Farm StaysPWH Curated Experience and Travel Interested in being a guest on the show? Send your pitch to podcast@phineaswrighthouse.com Podcast Production By Shannon Warner of Resonant Collective Want to start your own podcast? Let's chat! If this episode resonated, follow Say YES to Yourself! and leave a 5-star review. It helps more women in midlife discover the tools, stories, and community that make saying YES not only possible, but powerful.

Our guest this week Hugh Hempel of Denver, CO, 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 Part 1 of a 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.. 

New research is transforming the outlook for cervical and uterine cancers -- two of the most serious gynecologic malignancies worldwide – and we'll be hearing from one of the people shaping that progress, Dr. Mary McCormack, on this episode of Raise the Line. From her perch as the senior clinical oncologist for gynecological cancer at University College London Hospitals, Dr. McCormack has been a driving force in clinical research in the field, most notably as leader of the influential INTERLACE study, which changed global practice in the treatment of locally advanced cervical cancer, a key reason she was named to Time Magazine's 2025 list of the 100 most influential people in health. “In general, the protocol has been well received and it was adopted into the National Comprehensive Cancer Network guidelines which is a really big deal because lots of centers, particularly in South and Central America and Southeast Asia, follow the NCCN's lead.”In this conversation with host Michael Carrese, you'll learn about how Dr. McCormack overcame recruitment and funding challenges, the need for greater access to and affordability of treatments, and what lies ahead for women's cancer treatment worldwide. Mentioned in this episode:INTERLACE Cervical Cancer Trial 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

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.

Medical oncologist, geriatrician, and physician scientist GJ van Londen and Chief of Genetic and Genomic Medicine at the University of Pittsburgh School of Medicine Gerald Vockley discuss the article "FDA delays could end vital treatment for rare disease patients." GJ and Gerald explore the complex regulatory impasse where the U.S. Food and Drug Administration denied standard approval for elamipretide despite a positive advisory committee vote, creating a financial crisis that threatens to cut off supply for everyone. GJ shares his personal journey from treating cancer to living with primary mitochondrial myopathy, while the conversation emphasizes the critical need for the agency to use the flexibility granted by the Orphan Drug Act to save a treatment that has already proven its worth. Join us to understand the life-or-death stakes hidden behind administrative decisions. This episode is presented by Scholar Advising, a fee-only financial advising firm specializing in providing advice for DIY investors. If you want clear, actionable strategies and confidence that your financial decisions are built on objective advice without AUM fees or commissions, Scholar is designed for you. Physicians often navigate complex compensation structures, including W-2 income, 1099 work, production bonuses, and practice ownership. Scholar's highly credentialed advisors guide high-earners through decisions like optimizing investments for long-term tax efficiency and expert strategies for financial independence. Every recommendation is tailored to the financial realities physicians face. VISIT SPONSOR → https://scholaradvising.com/kevinmd SUBSCRIBE TO THE PODCAST → https://www.kevinmd.com/podcast RECOMMENDED BY KEVINMD → https://www.kevinmd.com/recommended

It's the story Becky Quick never thought she would tell.  Her own.As a mom to a child with a rare genetic disease, Squawk Box co-host Becky Quick dove into the hidden world of the many ways biological chance can change our lives. Thirty million Americans have a rare disease, which impact small numbers of patients.  Two-thirds of those thirty million are children; 95% of rare diseases don't have an FDA-approved treatment. But despite those eye-popping numbers, millions of people continue to suffer from diseases that often go overlooked by the broader healthcare industry. Small patient populations mean drug companies and investors aren't willing to invest in the space, and outdated regulatory frameworks make the process of developing lifesaving treatments too slow for the families that need them.Becky and her husband Matt Quayle share the journey of their 9-year old daughter Kaylie, who has a rare genetic condition called SYNGAP-1.  Over the next several episodes of The Path, Becky will highlight the unique challenges faced by millions of Americans, put a spotlight on the bottlenecks slowing progress in the rare disease space, and talk with stakeholders who have the power to bring about change.Join us in advancing awareness and understanding of rare diseases. Visit CNBC.com/Cures to access clips, resources, or to sign up for our weekly newsletter. Follow Becky Quick on X: @BeckyQuickPlease share your thoughts or rare disease story in the comments, and join us on The Path. Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.

Pulitzer Prize-winning NYTimes Opinion columnist Tom Friedman shares his perspective on the United States' indefinite involvement in Venezuela. He warns that without a pathway toward functioning democracy, the country's “mafia leadership” may remain in place. President Trump is speaking out against defense company stock dividends and buybacks. Plus, Becky Quick shares her personal connection to CNBC's newest initiative, CNBC Cures. In a conversation with former FDA Commissioner Dr. Scott Gottlieb, she discusses the scale of rare diseases and the regulatory hurdles that impact treatments for diagnoses like that of her own daughter, Kaylie. Join us in advancing awareness and understanding of rare diseases. Listen to The Path with Becky Quick, and visit CNBC.com/Cures to access clips, resources, or to sign up for our weekly newsletter.  Tom Friedman - 13:05Dr. Scott Gottlieb - 26:06 In this episode:Becky Quick, @BeckyQuickJoe Kernen, @JoeSquawkAndrew Ross Sorkin, @andrewrsorkinKatie Kramer, @Kramer_Katie Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.

Trevor Maxwell lived the archetype of masculinity in rural Maine. Big, strong, splitting wood, raising kids, and carrying the load. Then cancer ripped that script apart. In 2018 he was bedridden, emasculated, ashamed, and convinced his family would be better off without him. His wife refused to let him disappear. That moment forced Trevor to face his depression, get help, and rebuild himself. Out of that came Man Up To Cancer, now the largest community for men with cancer, a place where men stop pretending they are bulletproof and start being honest with each other.Eric Charsky joins the conversation. A veteran with five cancers, forty-nine surgeries, and the scars to prove it, Eric lays out what happens when the military's invincible mindset collides with mortality. Together, we talk masculinity, vulnerability, sex, shame, and survival. This episode is blunt, raw, and overdue.RELATED LINKSMan Up To CancerTrevor Maxwell on LinkedInDempsey CenterEric Charsky on LinkedInStupid 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.