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Vasanta Pundarika built her career inside healthcare investment banking before launching Lotuspring, an advisory firm focused on women's health and behavioral health. She spent nearly 20 years advising healthcare systems, treatment providers, and growth stage companies on mergers, financing, and operational strategy while watching the industry repeatedly misunderstand the people it claimed to serve.The conversation starts unexpectedly with anthropology, bread, and language. Vasanta explains how she spent years changing the pronunciation of her own name to make other people comfortable before eventually reclaiming it. That thread opens into a much larger discussion about adaptation, identity, and what institutions quietly train people to tolerate.From there, the discussion moves into behavioral health, women delaying care, and the invisible labor that healthcare business models routinely ignore. During COVID, Vasanta noticed men's behavioral health units refilled faster than women's units. The reason had nothing to do with demand. Women were still home managing caregiving responsibilities, children, aging parents, and households while their own mental health collapsed in the background.The episode examines what happens when healthcare companies become “snazzy big brands” before building real clinical substance underneath. Vasanta describes the tension between mission and margin inside healthcare startups, private equity backed care models, and behavioral health expansion. The conversation pushes on who benefits when healthcare scales aggressively, who absorbs the operational pressure, and how patient trust erodes long before executives notice it on a dashboard.They also discuss patient advocacy culture, anthropology as systems analysis, healthcare capitalism, prior authorization, investor language, and why some clinically excellent companies never survive long enough to scale.RELATED LINKSVasanta PundarikaLotuspringWomen's Health HorizonsSakhi for South Asian SurvivorsNACDPrinceton University Anthropology DepartmentFEEDBACKLike 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.
The following article of the Health industry is: “The Three Pillars of Diagnosis in Rare Diseases” by David López García, Former Managing Director for Mexico and CAAC Region, BioMarin Pharmaceuticals México.
Brad Power spent years advising major corporations on systems design, process engineering, and decision making before lymphoma shoved him into the patient side of American healthcare. Instead of accepting the experience at face value, he started reverse engineering the machinery around cancer itself. Brad is the founder of Cancer Patient Lab and Open Cancer AI, two projects built around a blunt reality most patients discover too late: the healthcare system rewards people who know how to navigate it. Everyone else risks getting steamrolled by information asymmetry, insurance barriers, administrative friction, and institutional incentives designed around efficiency instead of human survival.The conversation starts with Harvard Business Review and Tumblr blogs before moving directly into the darker architecture underneath modern cancer care. Power explains how hospitals optimize for throughput, how insurance companies reward operational consistency over personalized medicine, and why many patients quietly end up needing a crash course in oncology, reimbursement policy, and behavioral psychology while fighting for their lives.The discussion digs into CAR-T therapy, functional testing, AI assisted decision support, and the growing collision between personalized medicine and standardized care pathways. Power argues that engaged patients often get better outcomes because they learn how to push for off guideline treatments, contest denials, and ask smarter questions. The counterpoint lands hard: patients should never have needed to become experts in the first place.The episode also explores the cultural consequences of AI entering cancer care. OpenAI advertising, data privacy, trust erosion, pharmaceutical influence, and “agentic AI” all collide inside a healthcare economy already drowning in distrust. Power sees artificial intelligence as a force multiplier for patient literacy and access. The larger system still decides who gets approved, who gets delayed, and who gets left behind.By the end, the conversation lands exactly where modern healthcare keeps forcing people to land: survival increasingly depends on learning how the machine works before the machine works on you.RELATED LINKSBrad PowerCancer Patient LabOpen Cancer AIHarvard Business ReviewResearch to the PeopleCAR T Cell 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.
Lisa Gurry, Chief Business Officer at GeneDx, is transforming the diagnosis of rare diseases in children by providing comprehensive genetic testing. Using exome and genome sequencing, they deliver rapid, accurate results that enable early intervention and access to therapies. Through partnerships and a network of genetic counselors, GeneDx connects patients with specialists and clinical trials to ensure equal access for children and has established a comprehensive database that supports clinical care and drug development and helps identify previously undiagnosed or misdiagnosed conditions. Lisa explains, "The average diagnostic odyssey, or the time it takes to get a diagnosis, is tragically far too long for most families. It can take five years or more to get that diagnosis. And it's typically because the system tends to wait and see to provide the genetic tests that could give a diagnosis very quickly. At GeneDX, we've focused on exome and genome testing, which enables us to have a very comprehensive view across variants of potential diagnoses. And so that's our recommendation: any family that is experiencing a developmental delay has concerns with epilepsy, autism, or any number of genetic potential conditions. The beautiful part about a genetic test is that it can give you the answer you need to know what action to take." "It's remarkable how much science and technology have evolved. So we did our first exome test in 2011, and since then we've sequenced over one million exomes and genomes. So, a tremendous amount of progress has been made in the number of children that we've diagnosed. That's possible because science and technology have advanced, the cost of the test has dramatically reduced, and our ability to deliver that at scale is something that we've been investing in for the last 25 years." #GeneDx #RareDisease #Genomics #Pediatrics #PrecisionMedicine #GeneticTesting #Epilepsy #GeneTherapy #RealWorldData #Biopharma #ClinicalTrials #HealthcareInnovation genedx.com Listen to the podcast here
Lisa Gurry, Chief Business Officer at GeneDx, is transforming the diagnosis of rare diseases in children by providing comprehensive genetic testing. Using exome and genome sequencing, they deliver rapid, accurate results that enable early intervention and access to therapies. Through partnerships and a network of genetic counselors, GeneDx connects patients with specialists and clinical trials to ensure equal access for children and has established a comprehensive database that supports clinical care and drug development and helps identify previously undiagnosed or misdiagnosed conditions. Lisa explains, "The average diagnostic odyssey, or the time it takes to get a diagnosis, is tragically far too long for most families. It can take five years or more to get that diagnosis. And it's typically because the system tends to wait and see to provide the genetic tests that could give a diagnosis very quickly. At GeneDX, we've focused on exome and genome testing, which enables us to have a very comprehensive view across variants of potential diagnoses. And so that's our recommendation: any family that is experiencing a developmental delay has concerns with epilepsy, autism, or any number of genetic potential conditions. The beautiful part about a genetic test is that it can give you the answer you need to know what action to take." "It's remarkable how much science and technology have evolved. So we did our first exome test in 2011, and since then we've sequenced over one million exomes and genomes. So, a tremendous amount of progress has been made in the number of children that we've diagnosed. That's possible because science and technology have advanced, the cost of the test has dramatically reduced, and our ability to deliver that at scale is something that we've been investing in for the last 25 years." #GeneDx #RareDisease #Genomics #Pediatrics #PrecisionMedicine #GeneticTesting #Epilepsy #GeneTherapy #RealWorldData #Biopharma #ClinicalTrials #HealthcareInnovation genedx.com Download the transcript here
By the time the paper hit version 71, Dr. Nirosha Murugan had already done the hard part. The data were real. The experiment had worked. A team of researchers had used a wearable bioreactor to trigger limb regeneration in frogs, a result with obvious implications for regenerative medicine. But the science still wasn't getting over the line. The problem wasn't the work. It was the translation.On this episode of Standard Deviation, host Oliver Bogler talks with Dr. Nirosha Murugan, a biophysicist and Tier II Canada Research Chair in Tissue Biophysics at Wilfrid Laurier University, about what happens when a scientist working at the edges of quantum biology, bioelectricity, and tissue regeneration runs headfirst into the unwritten rules of academic publishing. Murugan's research asks biologists to think beyond molecules and chemistry alone, and to consider the physical signals, electromagnetic fields, and invisible forces that shape development and healing. It is ambitious science. It is also exactly the kind of work that can make gatekeepers nervous.Bogler follows Murugan through the less glamorous part of discovery: the hidden curriculum of getting a paper published, securing scientific credibility, and learning that data do not simply “speak for themselves.” Murugan describes how jargon buried the pitch of her own work, how a lack of editorial support left her at a disadvantage, and how the JEDI program at the Life Science Editors Foundation paired her with a former journal editor who taught her how to structure a manuscript, write a cover letter, and survive peer review.The result was publication in Science Advances, but the larger story is about power. Who gets taught the rules of biomedical research. Who has access to grant writers, editors, and institutional polish. Who is left to brute-force their way through the maze. And how one scientist, having finally found the map, now makes sure her own trainees do not have to learn it the hard way.RELATED LINKSDr. Nirosha MuruganWilfrid Laurier UniversityLife Science Editors FoundationJEDI ProgramScience Advances paper on limb regenerationFEEDBACKLike 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.
For many families navigating chronic illness, it's hard to imagine what the future might look like for their child. This week on Inside the Children's Hospital, Katie Taylor sits down with Vincent Rosche, a patient advocate, fitness enthusiast, and survivor who has spent most of his life navigating complex medical challenges. Diagnosed with chronic intestinal pseudo-obstruction (CIPO) at just 9 months old, Vincent grew up with feeding tubes, central lines, frequent hospitalizations, and even battled thyroid cancer as a teenager. Today, Vincent works as the Community Engagement Coordinator for the Oley Foundation, connecting patients and families receiving home nutrition support with resources, education, and peer support. In this inspiring conversation, Vincent shares: • His earliest memories of growing up in the hospital • The profound impact Child Life Specialists and therapy dogs had on his experience • What his parents did that made the biggest difference during difficult times • Navigating school while managing complex medical needs • Learning to advocate for himself as a patient • How fitness transformed his health and confidence • Becoming a bodybuilding competitor despite lifelong health challenges • The importance of community, connection, and peer support • Resources available through the Oley Foundation for pediatric and adult patients ⏰ Timestamps 00:00 Introduction 00:50 Vincent's diagnosis and medical journey 02:52 Life today: advocacy, fitness, and dogs 04:02 Therapy dogs and Child Life memories 05:43 Earliest hospital experiences 07:14 The role of family and support 10:21 Advice for parents navigating chronic illness 17:34 School and growing up medically complex 23:24 Learning self-advocacy 28:20 Discovering fitness 32:59 Becoming a personal trainer 36:15 Competitive bodybuilding 37:59 Joining the Oley Foundation 40:23 Peer support and patient advocacy 45:12 Resources for families 49:49 How to connect with Vincent 51:05 Lessons learned and proudest accomplishments 58:47 A message of hope for parents 01:00:00 Closing Vincent offers a powerful message to parents who are in the thick of it right now: you're doing better than you think, and your child remembers your love more than your mistakes. Whether you're a parent, caregiver, healthcare professional, or someone living with a chronic condition, this conversation is filled with hope, perspective, and practical wisdom. Learn more about the Oley Foundation at https://oley.org Connect with Vincent: Instagram: @chronically_fit_life Facebook: Vincent Rosche Connect with us! Instagram: @childlifeoncall + @insidethechildrenshospital Subscribe: Never miss an episode on Apple Podcasts or Spotify. Visit insidethechildrenshospital.com to search stories and episodes easily Leave a Review: It helps other families find us and access our resources Medical information shared in this episode is not a substitute for professional medical advice. Please consult your care team for guidance specific to your child and family. Keywords: Chronic Illness, Rare Disease, Patient Advocacy, Medical Parenting, Pediatric Healthcare, Feeding Tube, TPN, Chronic Intestinal Pseudo-Obstruction, Child Life Specialist, Resilience
In this episode of Let's Combinate: Drugs + Devices, Subhi Saadeh talks with Julia Anthony, founder and chief strategy officer of Solution Medical, about adrenal crisis, emergency hydrocortisone, and what it takes to build a drug-device combination product from a patient need.Julia was born with salt-wasting congenital adrenal hyperplasia, a life-threatening form of adrenal insufficiency. Because her body cannot make cortisol, she takes cortisol replacement daily and may need an emergency hydrocortisone injection during a crisis.The problem?The current emergency injection can take upto 14 steps to prepare, mix, and administer.Julia explains why the liquid and powder need to stay separate for stability, why the current process is so difficult during an emergency, and how Solution Medical is developing a proprietary dual-chamber primary container to simplify reconstitution while maintaining shelf life without refrigeration.We also discuss how the company evolved from a device idea into a drug-led 505(b)(2) NDA program, the development of a four-step prefilled syringe and two-step auto-injector, human factors testing with both patients and injection-naive users, manufacturing challenges in aseptic processing, supplier trust, regulatory strategy, and the broader platform potential for other mix-before-inject drugs.Chapters00:00 Meet Julia Anthony01:04 Living Without Cortisol02:03 The 14-Step Injection05:01 Building a Combination Product07:54 From Device Concept to Pharma Company10:06 Needles, Steps, and Testing13:25 Patient Insights and Human Factors16:58 Real-World Access Challenges21:50 Why Not a Liquid Formulation?24:15 Regulatory Pathway: 505(b)(2)25:13 Manufacturing and Partner Trust27:32 Rare Disease and Supplier Power31:53 Platform Vision Beyond Adrenal Insufficiency38:05 Reconstitution Is the Hard Part41:12 COVID Tailwinds and Timeline43:38 Where to Find Solution Medical44:42 Final Thoughts on CortisolAbout SubhiSubhi Saadeh is a consultant, trainer, and auditor focused on quality, regulatory, manufacturing, and supplier challenges for drugs, devices, and combination products.Through Let's Combinate, Subhi helps companies navigate the messy intersection of pharmaceutical and medical device requirements through consulting, training, audits, and practical education.He also hosts Let's Combinate: Drugs + Devices, where he speaks with leaders building, regulating, manufacturing, and improving combination products.
Dr. Jess Peatross trained in conventional medicine and worked as a hospitalist before she started questioning why so many chronically ill patients kept getting worse inside the healthcare system she trusted. Her perspective carries weight because she spent years following every protocol exactly as taught before walking away from hospital medicine entirely.Raised in Huntington, West Virginia during the opioid crisis, she entered medicine believing the system existed to heal people. Instead, she found hospitals driven by billing codes, liability management, and pharmaceutical dependence while patients with chronic illness, autoimmune disease, mold exposure, and chronic pain cycled endlessly through appointments and prescriptions.Dr. Peatross explains what pushed her toward functional medicine, cannabis therapy, and prevention focused care after watching patients improve only after leaving conventional treatment pipelines behind. The conversation tackles physician burnout, chronic illness stigma, healthcare incentives, and the growing collapse of trust between patients and institutions.The discussion also moves into supplements, environmental toxins, ultra processed food, and the uncomfortable economics behind keeping people permanently sick but continuously billable. Dr. Peatross describes the professional backlash that comes with challenging medical orthodoxy while Matthew connects her experience to the broader erosion of public trust across American healthcare.Together they unpack what happens when patients stop believing the system can help them and start searching elsewhere for answers.RELATED LINKSDr. Jess PeatrossInstagramMarshall UniversityBrave New WeedFEEDBACKLike 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.
In one of the most heartfelt conversations ever on The Joseph Graham Show, Joseph sits down with Brett Rezewski to talk about the part of his life most people never see online — the battle his wife faced with a rare disease that led to a stroke, and the way Brett stepped into the role of full‑time caretaker, business owner, and father, all while holding onto his faith in Christ.Brett opens up about the fear, the exhaustion, the prayers, and the moments where he didn't know how he would make it through. He shares how God met him in the darkest seasons, how his marriage grew stronger through suffering, and how being a caretaker reshaped his understanding of love, leadership, and calling.This episode is raw, emotional, and deeply inspiring. It's a story of a man choosing faith over fear, commitment over comfort, and love over circumstance.His wife's rare disease and the day everything changedThe stroke that reshaped their marriage and daily lifeWhat it means to be a husband when your spouse can't fight for herselfBalancing caregiving, fatherhood, and running a businessHow Christ sustained him through exhaustion, fear, and uncertaintyThe spiritual lessons learned in hospital rooms and quiet moments with GodWhy suffering can deepen faith instead of destroying itHow Brett and his wife stay united, hopeful, and anchored in ScriptureThe calling men have to lead with love, sacrifice, and spiritual strengthReal leadership starts at home — especially when life falls apart.God often does His deepest work in seasons of suffering.Marriage is a covenant, not a convenience.Being a caretaker is one of the highest forms of love.You can carry heavy responsibility when Christ carries you.Faith doesn't remove the storm — it gives you strength to walk through it.Instagram: @brett_rezewskiCoaching & Programs: (Add link if you want it included)Joseph Graham is a sales leader, podcast host, and coach helping business owners build selling systems that scale. Through The Joseph Graham Show, he spotlights leaders, thinkers, and innovators making an impact in business, mindset, faith, and personal growth.Connect with Joseph:Website: JoeGrahamReal.comInstagram: @joegrahamrealYouTube: The Joseph Graham ShowLinkedIn: Joseph GrahamKey Topics CoveredKey TakeawaysConnect with Brett RezewskiAbout Joseph Grahamhttps://a.co/d/0j9xgC8ohttps://www.instagram.com/brett_rezewski?igsh=cGN5ODhjbXZzZ3Mx&utm_source=qr
This episode, recorded at the ASGCT 2026 Annual Meeting in Boston, focuses on Molecular Therapy Advances’ upcoming special issue, Beyond prevalance: How rare diseases are reshaping therapeutic innovation. Listen as Editor-in-Chief of Molecular Therapy Advances, Dr. Mohamed Abou-el-Enein, discusses the evolution of therapeutic development for rare diseases with guest editors Drs. Jennifer Adair, Claire Booth, Terence Flotte, and Donald Kohn. Music: 'Electric Dreams' by Scott Buckley - released under CC-BY 4.0. www.scottbuckley.com.auShow your support for ASGCT!: https://asgct.org/membership/donateSee omnystudio.com/listener for privacy information.
Families seeking a diagnosis for a rare disease often face a protracted diagnostic odyssey that can include ER visits, specialist referrals, and dead ends, even at world-class medical centers. Parents bounce from doctor to doctor while payers absorb mounting costs, and the pivotal moment of putting a name to a disease—which can reduce unnecessary care and emotional distress—arrives late, if at all. Sunstone Health is seeking to industrialize the path to answers by using AI to scan claims data for patterns that flag likely genetic disease, recruiting high-risk families, and fast-tracking whole-genome sequencing through a top clinical lab. Sunstone Health founder Joshua Resnikoff discusses how his son's rare disease diagnostic odyssey gave rise to the company, how Sunstone is working to transform the path to a diagnosis, and its business model of relying on the savings it delivers to self-funded employers.
Farla Efros is a senior retail executive and former CEO who built and sold companies before facing her own breast cancer diagnosis. She brings that same operational mindset into a healthcare system that expects patients to manage complexity while they are at their most vulnerable.She was on a client call in Spain when the diagnosis came through. A clear mammogram had missed it. An MRI caught it. Within hours, she was ordering binders, building a plan, and structuring her treatment like a turnaround strategy. Every appointment became a meeting. Every doctor faced an agenda with dozens of questions. She paid out of pocket for PET scans that were denied and hired a third party firm to validate her treatment path when her own doctors resisted outside input. The conversation tracks what happens when a high-functioning executive enters a system built on delay, denial, and fragmentation. Efros describes negotiating for tests, managing physician relationships, and assembling an “executive board” of advisors across conventional and alternative care. She calls the experience “the worst client I ever had,” exposing how administrative burden shifts onto patients and families.The tension sits between what worked for her and what is inaccessible to most. Her approach requires confidence, time, and fluency in navigating power. The system rewards that behavior while quietly failing patients who cannot replicate it. Insurance coverage still left her paying out of pocket. Doctors pushed standard protocols over precision medicine. Survivorship offered little support once treatment ended.This episode examines how cancer care operates as a series of incentives rather than a coordinated system, and why patients are forced to become operators just to get through it.RELATED LINKSFarla EfrosFarla Efros on LinkedInF*ck CancerF*ck Cancer on AmazonAccentureCTOAMPULL QUOTES“I treated cancer like the worst client I ever had.”“They wouldn't approve the test, so I paid for it myself.”“Every appointment was a negotiation.”FEEDBACKLike 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.
In this episode of PeDRA Pearls, we explore the discovery of Bachmann-Bupp syndrome and the remarkable collaboration that transformed a single patient observation into a growing body of research and a promising treatment pathway. Host Jenn Dawson speaks with Caleb Bupp, MD, Andre Bachmann, PhD, and Liz VanSickle, PhD, about the genetics, skin and hair findings, and translational science behind this ultra-rare disorder, as well as the critical role pediatric dermatologists can play in recognizing patients, advancing research, and building connections for families navigating rare disease.
A new peer-reviewed study of nationwide German data finds suspected adverse-event reports for COVID-19 vaccines were sharply elevated in the earliest weeks of rollout, then fell suddenly. The authors call it a possible batch-dependent safety signal. Danish physician Dr. Vibeke Manniche, the study's lead author and the only Danish doctor to speak out publicly against lockdowns from the start, joins to break down the findings. Published in the International Journal of Risk & Safety in Medicine, the analysis covers the first three and a half years of Germany's vaccination campaign. For one product, early-rollout reporting rates were roughly 80 times higher than the rates seen just weeks later. Dr. Manniche also makes the case for why the US could learn from Denmark's childhood vaccine schedule. Filmmaker Michael Pack, president of Palladium Pictures, discusses their new WSJ Opinion documentary “The Lockdown Dissidents.” Director Rand Courtney speaks on “La Lucha: Getting Schooled in America,” which follows five teens through poverty, trauma, and a broken school system. Dr. Drew is featured in the film. Dr. Vibeke Manniche, MD, PhD, is a Danish physician and author of 35 books on children, family, sleep, and medicine. With 34 years of medical practice, she has worked in epidemiology across rare diseases and public health. She was the only Danish doctor to speak publicly against COVID lockdowns from the outset. Follow at https://x.com/mannichevibeke Michael Pack is the President and CEO of Palladium Pictures LLC, an independent film company he launched in 2023 with his wife, Executive Producer Gina Cappo Pack. Palladium focuses on high-quality documentaries across long-form features, short-form series, and a film incubator program. He is producer and director of The Lockdown Dissidents, part of WSJ Opinion Docs. Follow at https://x.com/MichaelPack_ Rand Courtney is the director of La Lucha: Getting Schooled in America, an award-winning film streaming free on Plex, Xumo, Documentary+, Tubi, Fawsome, and Fandango at Home. The film follows five at-risk teens navigating poverty, crime, and a broken education system in Pacoima, Los Angeles. Learn more at https://creativedeviants.com 「 SUPPORT OUR SPONSORS 」 • FATTY15 – The future of essential fatty acids is here! Strengthen your cells against age-related breakdown with Fatty15. Get 15% off a 90-day Starter Kit Subscription at https://drdrew.com/fatty15 • PALEOVALLEY - "Paleovalley has a wide variety of extraordinary products that are both healthful and delicious,” says Dr. Drew. "I am a huge fan of this brand and know you'll love it too!” Get 15% off your first order at https://drdrew.com/paleovalley • THE WELLNESS COMPANY - Counteract harmful spike proteins with TWC's Signature Series Spike Support Formula containing nattokinase and selenium. Learn more about TWC's supplements at https://twc.health/drew 「 ABOUT THE SHOW 」 This show is for entertainment and/or informational purposes only, and is not a substitute for medical advice, diagnosis, or treatment. Executive Producers • Kaleb Nation - https://kalebnation.com • Susan Pinsky - https://x.com/firstladyoflove Content Producer • Emily Barsh - https://x.com/emilytvproducer Learn more about your ad choices. Visit megaphone.fm/adchoices
While Elsevier's most recent Clinician of the Future Report shows increasing adoption of artificial intelligence tools among physicians and nurses, and optimism that they will improve quality of care in the future, a majority raised concerns about trust and reliability. To increase the level of trust, 60% said transparent citations of evidence-based and peer-reviewed research will be key. How to provide that transparency is our focus today as Raise the Line host Lindsey Smith welcomes Elsevier colleagues Rhett Alden and Raman Kaur to guide us through the complexities involved, including the concept of traceability and what role it plays in how AI tools such as Elsevier's ClinicalKey AI are built and deployed. “Traceability changes the confidence that a clinician has in an AI tool so that they aren't trusting the AI, they're trusting the underlying evidence they're consuming from the AI-assisted platform,” says Raman, who brings years of experience as a primary care practitioner to her work. It's also important, Rhett adds, to provide additional information, pulled from both the clinician's query and the patient's medical record, to inform clinical thinking. “ClinicalKey AI can be more than a response engine by establishing a larger context to provide a more precise answer for that individual patient.” In this thought-provoking discussion, these experts also provide insights on: Mitigating bias in AI results; Using AI responsibly with sustainability in mind; What type of clinician will benefit most from AI Mentioned in this episode: ClinicalKey AI Clinician of the Future Report 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
Welcome to Episode 092 of the Beyond the Diagnosis podcast! In this episode we're exploring the often-overlooked mental health impact of rare disease across every stage of the journey, from the uncertainty before diagnosis to treatment, remission, and beyond. Licensed social worker Doris Dahdouh joins us to discuss the emotional realities patients, caregivers, and siblings face, including anxiety, grief, guilt and isolation, while offering practical ways to cope through clear communication, intentional support, daily routines, gratitude, and peer connection. The conversation is compassionate, validating, and deeply practical, reminding listeners that feeling overwhelmed is normal and that no one has to navigate rare disease alone. Let us know what you think! Leave us a review, drop us a comment or share an idea for a future podcast with us at podcast@histio.org. Take a screenshot and tag us @histiocytosis_association on Instagram. We'd love to hear your feedback! Be sure to subscribe so you can be notified the moment a new episode of Beyond the Diagnosis is released. Resources mentioned in the podcast: Learn more about our Peer Support Groups at www.histio.org/resource-overview/peer-connection Follow the Histiocytosis Association on social media: Facebook: https://www.facebook.com/histio Twitter: @histiocytosis Instagram: histiocytosis_association YouTube: https://www.youtube.com/@Histiocytosis Music: “Heroes” by Noah Smith
A Different Story was born out of our experience of parents to a little boy living with a rare neurological disease. From obtaining a diagnosis to finding quality care to fighting for accessible education and to building a supportive community, their experience in this journey is the foundation of A Different Story. Together in conversation... The post
In 2020, Emily Mendenhall drove from Washington, DC to Okoboji, Iowa, a town of 800 that swells to 200,000 every summer, and walked into a pandemic that looked nothing like the one dominating national headlines. Inside gas stations and bars, masks marked you as an outsider. In one stop, a man told her family they would not be served if they kept theirs on. Her 6 year old daughter cried, confused. Mendenhall, a medical anthropologist at Georgetown University, did what she always does. She started asking questions. Over months, she interviewed neighbors, former classmates, and local officials, including her own brother in law who helped lead the local COVID response. The result became Unmasked, a case study in how community identity, economics, and politics shaped public health decisions in real time. That work led directly into her latest book, Invisible Illness: A History, from Hysteria to Long COVID, where she tracks a much older problem. Patients with chronic illness, especially women, often fail to meet medicine's demand for proof. Without a clear diagnosis, they lose access to care, insurance coverage, and legitimacy. Mendenhall argues that long COVID did not create this failure. It exposed it.This conversation centers on how healthcare systems reward certainty and punish complexity. Long COVID clinics send patients to 17 specialists without resolution. Insurance structures require diagnoses that many conditions cannot provide. Medical training still struggles to integrate trauma, mental health, and chronic disease into a coherent model of care.Mendenhall brings lived experience into the conversation. After COVID, she dealt with months of fatigue and escalating anxiety that altered her baseline health. She does not claim the label of long COVID, but she understands how quickly the system becomes harder to navigate once symptoms stop fitting clean categories. The stakes are not theoretical. In the United States, access to healthcare, disability benefits, and treatment still depends on whether a condition can be measured, coded, and reimbursed. For millions living with invisible illness, the burden of proof becomes the illness itself.RELATED LINKSEmily MendenhallInvisible Illness: A History, from Hysteria to Long COVIDScience PoliticsGeorgetown UniversityFEEDBACKLike 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.
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Plus: Chevron strikes deal with Microsoft to power West Texas AI data center. And a SoftBank-backed robotics company plans to go public in Hong Kong. Danny Lewis hosts. Learn more about your ad choices. Visit megaphone.fm/adchoices
It's been one year since the U.S. Centers for Disease Control and Prevention, in an unprecedented move, dismissed all the members of its Advisory Committee on Immunization Practices (ACIP), kicking off what would turn out to be a very concerning and busy year for infectious disease specialists. We're going to recap this turbulent period – which includes a resurgence of measles, an unusually rough flu season, the emergence of a new COVID strain and outbreaks of hantavirus and Ebola – with Dr. William Schaffner, one of the country's most frequently quoted medical experts on infectious disease, vaccination, and public health. As a member of ACIP for decades, Dr. Schaffner brings unique insight into the dismantling of the committee and the distrust of vaccines that lies at the root of the changes. As he explains to Raise the Line host Lindsey Smith, while many vaccine critics are beyond reach, there are those he describes as vaccine hesitant that may be persuadable if the right approach is taken. “Beyond providing facts, we have to listen to them and respond to their concerns and make them feel comfortable. Information is fundamental, but behavior change only comes with a change in attitude.” Tune in for a wealth of wisdom and context that includes observations on: What's complicating containment of the Ebola outbreak; Challenges in public health communication in the current social media environment; What grade health authorities should get on their response to the hantavirus outbreak. Mentioned in this episode:Vanderbilt University 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
At the World Federation of Hemophilia World Congress in Kuala Lumpur, thousands gathered to discuss the future of bleeding disorders care. Gene therapies. Rebalancing agents. Artificial intelligence. New possibilities seemed to be everywhere. But beneath the excitement, one question echoed throughout the meeting: who still gets left behind? In this episode of the Global Hemophilia Report, Patrick Lynch sits down with Believe Limited's Amy Board, WFH Humanitarian Aid Director Assad Haffar, and Sanofi's Bonnie Anderson to explore the promises of innovation, the realities of global inequity, and the humanitarian efforts working to close the gap. From breakthrough science to life-changing access programs, this conversation examines what "Treatment for All" really means in 2026. Guests: Amy Board – Director, Engagement and Programs, Believe Limited Assad Haffar – WFH Humanitarian Aid Director Bonnie Anderson – Head of Humanitarian Aid, Rare Diseases at Sanofi Senior Advisor: Donna DiMichele, MD Hosted by: Patrick James Lynch Featured Advertiser: Sanofi Subscribe to the Global Hemophilia Report Show Notes: Connect with the Global Hemophilia Report Global Hemophilia Report on LinkedIn Global Hemophilia Report on X/Twitter Global Hemophilia Report on Facebook Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook BloodStream on X/Twitter
At 25, Jace Yawnick was building a career in health and wellness sales, chasing growth, status, and the usual young adult fantasy of getting somewhere fast. Then his body stopped cooperating. Fatigue turned into chemotherapy. The diagnosis was primary mediastinal B cell non Hodgkin lymphoma, and the rest of his life split into before and after. Now in remission, he talks about cancer the way people actually live it, not the way nonprofits package it. He gets into survivorship, mental health, young adult isolation, and the deadening absurdity of prior authorization. One of the sharpest parts of the conversation lands on a simple American insult disguised as policy: treatment innovation means very little when insurance can still deny the scan, the drug, or the next step. Jace has seen that firsthand, including during routine monitoring after active treatment. This episode tracks what happens when a young cancer patient becomes a public voice and refuses to play mascot. It covers oncology, insurance, remission, advocacy, and the long mental hangover that follows survival. It also names the part too many institutions dodge: the system works great right up until it doesn't, and when it fails, patients get handed the bill, the panic, and a camera if they want anyone to care. RELATED LINKSJace Beats CancerJace Yawnick on LinkedImConquer Cancer ArticleCURE Today ArticlePyure BrandsFEEDBACKLike 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.
Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]
Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]
Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]
Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]
Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]
Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich's ataxia, and Alzheimer's research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter's diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]
At 20 years old, newly arrived from Puerto Rico and trying to build a future in science, Benjamin Suarez Jimenez found himself sitting in front of two senior faculty members accused of plagiarism. He knew the material. He had done the work. His mistake came from failing to cite class notes during an exam because nobody had told him that was expected. In a matter of minutes, he watched what felt like his entire career flash before him.On this episode of Standard Deviation, host Oliver Bogler examines the hidden architecture of academic science through the experiences of Dr. Benjamin Suarez Jimenez, Assistant Professor at the University of Rochester and a neuroscientist studying PTSD, anxiety, trauma, and spatial cognition through virtual reality and video game environments.Benjamin traces his path from Puerto Rico to the mainland United States, through the NIH, Columbia University, and eventually to leading his own laboratory. Along the way, he encountered a series of barriers that had little to do with scientific ability and everything to do with access to unwritten rules. From academic gatekeeping to grant writing expectations, he learned that success in biomedical research often depends on knowledge that never appears in a textbook.Oliver explores how those invisible obstacles shape careers, influence research funding, and determine who gains access to opportunity. The conversation also examines the Justice, Equity, Diversity, and Inclusion Program at the Life Science Editors Foundation, which pairs scientists from underrepresented backgrounds with experienced scientific editors. Through that mentorship, Benjamin transformed a critical grant proposal into a successful pilot award that helped launch an NIH R01 application.The discussion extends beyond one scientist's experience. Benjamin describes helping a former mentee navigate dissertation roadblocks that threatened her graduation, illustrating how institutional bureaucracy can delay careers and discourage talented researchers. Together, they explore the hidden administrative burden, cultural barriers, and bias that many scientists carry alongside their research, and what happens when someone who receives support turns around and opens the door for others.RELATED LINKSLife Science Editors FoundationBenjamin Suarez Jimenez LabDr. Benjamin Suarez JimenezBenjamin Suarez JimenezFEEDBACKLike 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.
"Do nothing for us without us." According to today's guest Robyn Bussey, that operating principle is the basis for effective community health work. "You don't go into a community and dictate. You go and listen and trust and be a partner," she adds. As you'll learn in this enlightening conversation, Bussey is following that approach in her current work as Just Health Director at the Partnership for Southern Equity, an Atlanta-based nonprofit advancing racial equity and shared prosperity across the South. On this episode of Raise the Line from Elsevier, Bussey provides illuminating examples of community-rooted work in South Fulton County and rural Georgia, and explains why community health workers may be the most underutilized asset in addressing health disparities. This wide-ranging interview with host Michael Carrese also explores: Bussey's candid perspective on what happened to the surge of interest in health equity that occurred during COVID; Why life expectancy gains in many Southern states have lagged behind the rest of the country; Her advice to students and early-career clinicians about where they're needed most. Mentioned in this episode: Partnership for Southern Equity 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 explainer episode, we've asked Jamie Ellingford, Lead Genomic Data Scientist for Rare Disease, to explain how genomics is helping us better understand rare conditions. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you've got any questions, or have any other topics you'd like us to explain, let us know on podcast@genomicsengland.co.uk. You can download the transcript or read it below. [00:00:00] Florence: How can genomics help us better understand rare conditions? My name is Florence Cornish, and today I am joined by our Lead Genomic Data Scientist for Rare Disease, Jamie Ellingford, and he is going to be sharing lots more insights about the topic with us. So, I guess before we begin, Jamie, it might be useful if you could explain what we actually mean by the term 'rare condition'? [00:00:25] Jamie: Sure. Hi, Florence. So, a rare condition we define as something that impacts one in less than two thousand people, and so that's something that occurs really infrequently in the population. But we know that collectively there's lots of different rare diseases. And so, the estimates are that it's about one in seventeen people in the population that are impacted by some sort of rare disease, of which we think there's over seven thousand. But research that uses data that we have here at Genomics England as well as other sources is starting to uncover more and more of these individual rare disorders. So collectively, as I just said, one in seventeen individuals, we think, is impacted by a rare disease, and that equates to almost three and a half million people here in the UK. [00:01:15] Most of these rare conditions, we think, have a genetic basis, and perhaps we'll explain a little bit more about what that means. [00:01:22] Florence: Yeah, no, it would be great to talk a little bit more about that actually. So as you said, most rare conditions we think have a genetic cause, but I think it might be helpful if you could explain what we mean when we say that something 'has a genetic cause'. [00:01:35] Jamie: Of course. So maybe we go back to kind of the basics and kind of how a person is first formed. So, at that point of fertilisation, where the sex cells from mum and dad join, we inherit one copy of our genome from mum and one copy from dad, and it's the order and the composition of these letters in our genome which makes it unique to us. Most of that genome is absolutely identical to anyone else in the human population. And a small fraction of it is unique to us and is a combination of things that we've inherited from our mothers and our fathers. And when we think about genetic causes, largely, we look at those differences. And so, what is it that's different in individuals compared to the wider population that could be driving these rare conditions? [00:02:23] Florence: So could you maybe explain a little bit more about how people's genetic material, how people's genomes differ from one another? [00:02:30] Jamie: So there's lots of different ways that we can observe these genetic differences. So some of them impact individual letters, and we, we may swap a single letter for another. [00:02:41] We can also remove small sections, so it may be that a run of three or four of these letters is deleted from someone's genome. But on the opposite end of the scale, we can also see huge changes in how that genetic material looks. So perhaps a good way to think about this is as a story. And so if our, if our genome is like any kind of good fiction story that you would read, then we can have spelling mistakes that impact single words, [00:03:09] that impact whole paragraphs, or some which impact whole chapters. Lots of these different types of genetic causes can give rise to genetic conditions. And so even the smallest changes, the smallest spelling mistakes in words, can still give rise to rare genetic conditions. [00:03:26] Florence: We actually have a previous podcast episode that explores that topic in a lot more detail. So if listeners want to check that out, it's called "Are genetic conditions always inherited from parents?" So obviously, Jamie, we spoke quite a lot about DNA and genetic changes there, and this episode is all about how genomics specifically can help us better understand rare conditions. [00:03:47] Um, but what actually is genomics as a field of study? [00:03:53] Jamie: So simply put, genomics is the study of the whole genome, or at least as complete a picture of the genome as we can possibly represent. And so in the case of rare disorders, we use genomics to try and understand what the genome looks like from an affected child. [00:04:12] And, um, in some cases, we're also able to look at the whole genomes of their relatives, so perhaps their mother and their father. And we use this information to best detect and best prioritise variants that we think are giving rise to their genetic condition. But how we've done that has evolved and advanced a lot over time, has gone hand in hand with these remarkable developments in technology. [00:04:37] And so a decade ago, maybe 15 years ago, the state-of-the-art technologies were to look for single spelling mistakes or to be able to survey complete genes. Nowadays, we can generate data for the whole genome, and we can do that fairly cheaply, we can do it quickly. And we rely on computational algorithms and the development of bioinformatic resources to be able to properly make sense of that data. And so there's, there's three key aspects of bioinformatics, this discipline of integrating informatics, computational technology, with biology. [00:05:17] And so the first is, having generated some data, can we appropriately find where in the human genome that data should map to? Having done that, can we detect these differences, these small or large changes in the human genome, for that individual? And finally, can we start to make sense of those changes? Can we understand whether they exist frequently in a population or they're unique to this family and predict what potential consequence they have on a gene's function? [00:05:47] Florence: Mm. So there's obviously lots of different components of genomics, but how can all of them help us better understand rare conditions specifically? [00:05:59] Jamie: So as we've already touched upon, most rare diseases have a genetic basis, and we think that that estimate could be something like 80% of rare diseases have a genetic component to them. And what we've seen over the past decade and further, is that genomics has really transformed the discovery of new genomic conditions. [00:06:20] And so being able to look at data from the whole genome has allowed us to understand new genetic, types of genetic changes, changes in new genes, which could cause these rare conditions. And what we've seen recently is that move and that transformation from genomics as a discovery tool to a tool that we use routinely and so essentially, we've moved this technology from research laboratories into the NHS and the UK healthcare system. We've really come a long way, and so, whilst we see that the amount of genetic diagnoses that we can find is really dependent on the specific disorders, broadly, we find genetic diagnoses for somewhere between a quarter and half of the individuals that are referred. [00:07:10] What that does mean is that there's still 50% of individuals out there that get referred to these services with a rare condition where we don't find an obvious genetic answer through the implementation of genomics within healthcare. [00:07:24] Florence: Do you have, um, a specific example you could share of where genomics has had a real impact in our understanding of rare conditions? [00:07:33] Jamie: So I think all of us that have worked in this space for, for a long time have our own individual examples. We're recording this in 2026, and over the past two years, there's been a flurry of discoveries of genes which don't directly encode proteins, that cause a certain type of rare conditions, and so we call these non-coding genes. [00:07:54] These genes have recently been described as a cause of kind of wide neurodevelopmental disorders, as a cause of genetic blindness, and there's ten at the time of recording, distinct rare conditions another example that I wanted to elaborate on is something that was really personal to me because it happened really early during my development as a, as a researcher and as a, somebody who looks at genomic data very early in my career, and really kind of had a profound impact on how I think about genomics and how it can be applied. [00:08:28] And so this was an individual who was referred with a certain type of rare condition. And through the analysis of their genomic data, we identified a genetic variant in a certain gene. At the time of testing, they were in their early teenage years, and when we looked at the scientific literature, what this suggested is that other symptoms were going to develop before the age of 20. [00:08:52] And so at this point, genomic testing had been done in a really critical window for that individual and allowed them to be referred to specialist centres, and to be managed appropriately, and that's really ended up in a good outcome. And what's becoming more and more frequent is the opportunity for genomics to inform enrolment to clinical trials, the development of targeted treatments, and we hope that in the next decade or so we'll see an increased flurry of those activities. [00:09:22] Florence: Yeah. So I guess, would the headline be that genomics allows us to see changes in the genome that maybe more traditional genetic tests wouldn't have allowed us to see, and then that in turn helps us with our approaches to rare conditions? [00:09:37] Would you say that that's accurate? [00:09:40] Jamie: So it certainly gives us that opportunity. [00:09:42] Florence: So I think we'll finish there, Jamie. Thank you so much for coming on, for taking the time to speak with us. It's been very insightful. [00:09:50] Thank you very much. A pleasure to chat. [00:09:52] Florence: If listeners want to hear more explainer episodes like this, you can find them on our website at www.genomicsengland.co.uk or wherever you get your podcasts. [00:10:03]
Dr. Sarah Matt trained as a burn surgeon, working in a field where patients arrive with catastrophic injuries and survival depends on speed, skill, and resources. She left the bedside after confronting a limit that medicine does not like to admit. One physician can only see so many people in a day. The system surrounding those patients decides the rest. She moved into health technology, held leadership roles in startups, and built global infrastructure at Oracle to scale care across populations. Then she watched billions of dollars in digital health and AI initiatives stall out when they hit real clinical environments.This episode follows that pivot from surgeon to strategist and back into direct patient care in rural New York, where she now treats uninsured patients, migrant workers, and communities pushed to the margins. The conversation centers on a persistent failure across healthcare systems. Products get built for regulators, executives, and investors instead of the people who use them. The result shows up in failed adoption, broken workflows, prior authorization delays, and rising physician burnout.The discussion cuts through health policy language and lands on lived consequence. The system rewards speed over usability, scale over trust, and compliance over care. Patients absorb the fallout. Physicians carry the liability. The incentives remain intact.RELATED LINKSDr. Sarah MattThe Borderless Healthcare RevolutionThe Clinical RealistJessica FedererSovatoFEEDBACKLike 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.
Chrisy and Dr. Kingzett, two women I met when we were all trying to raise our rare voices a little louder. Christine “Chrisy” Klavitter and Dr. Kristen Kingzett are both rare disease advocates, but more importantly, they are people living this reality every single day. Chrisy lives with Stiff Person Syndrome and Myositis. Kristen is an Internal Medicine physician and an ultra-rare cancer survivor. Together, we talk about what life with rare disease actually looks like—beyond the statistics. From delayed diagnoses (which can take years, even decades) to the emotional and physical toll of navigating a fragmented healthcare system, this conversation is honest, eye-opening, and necessary. More than 30 million people in the U.S. are living with a rare disease—defined as affecting fewer than 200,000 people. Yet despite those numbers, patients are still too often misunderstood, misdiagnosed, or left to navigate care on their own. Chrisy and Kristen share what an average day can look like, the full-time job of managing health (or caring for someone who is), and what happens when patients have to push back—even redirect—the so-called experts. We also dig into the bigger questions: Why does diagnosis still take so long—and how do we fix it? What do providers, institutions, and policymakers still not understand? What do you say to someone who believes “there's nothing I can do”? And where are we actually seeing progress in healthcare? What stands out most is this: patients are not passive participants in their care—they are often the ones holding it all together. About my guests: Dr. Kristen Kingzett is an Internal Medicine physician, educator, and advocate who brings both professional expertise and lived experience, including Juvenile Idiopathic Arthritis, Common Variable Immune Deficiency, and an ultra-rare cancer. She serves on Michigan's Rare Disease Advisory Council and Legislative Disability Caucus. Chrisy Klavitter is a healthcare policy and patient advocate, biologist, and recreation therapist. Living with Stiff Person Syndrome and Myositis, she works to bridge communication gaps between patients, providers, researchers, and policymakers to improve care for complex conditions. The takeaway? Rare disease may be defined by numbers, but its impact is anything but small. And if we build a healthcare system that works for rare disease patients, we build one that works better for everyone. 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/featuredNew: Shop our merchandise! https://thebonnellfoundation.org/product-shop/Thanks 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
PJ talks about Craig Coady's situation to Padraig O'Sullivan who says things must change. Hosted on Acast. See acast.com/privacy for more information.
As concerns escalate about the deadly Ebola virus outbreak in Africa, we bring you the unique insights of Dr. Peter Piot, a renowned microbiologist who co-discovered the virus 50 years ago during the first recorded outbreak of the disease. His on-the-ground account of that crisis was provided to us in April before the current outbreak was declared, but it contains valuable historical perspective and shares lessons learned that he carried forward in his consequential career. “What I saw from the beginning is the most important thing is to listen to people and that you need to act fast to save lives, before you have the evidence you would like to have.” He followed his contributions on Ebola by diving into the fight against HIV/AIDS, eventually reshaping global response in leadership roles at the World Health Organization and United Nations. As he shares with host Lindsey Smith, the learnings in that case were more pragmatic than scientific. “We had to redefine HIV/AIDS not as a medical problem but as an economic and security problem in order to get it on the political agenda.” Tune in for a fascinating episode that takes you from the gritty frontlines of public health crises to the battles for funding and attention in the halls of power as Dr. Piot shares what it actually takes to move the world to respond effectively to health threats. Mentioned in this episode: London School of Hygiene & Tropical 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
In the late 1980s, a child exposed to fallout from the Chernobyl disaster lay in a hospital bed while doctors told his family there were no clear answers and no reliable path forward. Decades later, that same child, Yan Leyfman, walks into exam rooms as a hematology oncology fellow, expected to deliver clarity inside a system that still runs on delay, uncertainty, and institutional self preservation.This episode traces the throughline from early life shaped by radiation exposure and hospice level uncertainty to a career inside academic medicine, translational research, and oncology media. Yan built his identity around survival and usefulness, moving from patient to physician while carrying the memory of what it feels like to sit on the other side of the table. He helped launch MedNews Week during the COVID crisis to push back on misinformation and expand access to medical knowledge, stepping into a public role while still in training.The conversation stays grounded in the friction between personal narrative and system reality. Clinical training demands efficiency, hierarchy, and emotional distance. Cancer care demands time, clarity, and human connection. Those forces collide in real patient encounters where prior authorization delays, insurance barriers, and fragmented care pathways shape outcomes as much as any treatment protocol.Yan speaks openly about mentorship, belonging, and the drive to make meaning out of survival. The discussion pushes further into what the healthcare system actually rewards, what it quietly strips away, and how quickly empathy can erode under institutional pressure. The episode also examines the role of medical media, where education, industry influence, and narrative control often blur together.This is a conversation about identity under construction, about what happens when someone who remembers powerlessness steps into a role that carries authority, and about whether that memory can survive long enough to change anything.RELATED LINKSYan Leyfman on LinkedInYan Leyfman on InstagramSurviving ChernobylFEEDBACKLike 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.
Artificial intelligence is rapidly reshaping the landscape of rare disease research -- but how close are we to realizing its full potential? In this episode, Tanya Binette (Director of Therapeutic Expertise, Rare Disease at ICON plc) and Roz Round (SVP of Operational Strategy, Patient and Site Engagement at Precision for Medicine) explore how AI is being applied across the rare disease clinical trial lifecycle, from drug discovery and protocol design to patient identification and engagement.The discussion highlights both the promise and complexity of using AI in a research space defined by small patient populations, fragmented data, and unique ethical considerations. Guests emphasize the importance of patient trust, regulatory alignment, and responsible innovation, while also identifying opportunities to accelerate trials, improve access, and empower patients through AI-enabled tools.
Matthew Zachary is a brain cancer survivor, healthcare advocate, founder of Stupid Cancer and We the Patients, and host of Out of Patients. In April 2026, he returned to the stage at Merkin Hall near Lincoln Center for his first solo public piano concert in almost 22 years while launching his debut book, We the Patients: Understanding, Navigating, and Surviving America's Healthcare Nightmare.What unfolded became far larger than a concert.Over 2 hours, survivors, clinicians, advocates, nonprofit founders, journalists, pharmaceutical sponsors, and healthcare insiders gathered in one room to reflect on 30 years of survivorship, institutional failure, accidental advocacy, and the emotional afterlife of cancer. The evening moved through original piano performances, live chapter readings, and deeply personal conversations about infertility, disability, financial toxicity, insurance denials, grief, burnout, and what happens when patients spend decades navigating systems designed around transactions instead of continuity.Guests including Wendell Potter, Maimah Karmo, Craig Lustig, Shelly Fuld Nasso, Tamika Felder, and others reflected on how the modern cancer advocacy movement emerged largely because patients built parallel systems where healthcare infrastructure failed to meet human needs. The conversation explored how prior authorization, reimbursement incentives, administrative fragmentation, and institutional distrust continue shaping the patient experience across oncology and survivorship.The performance also marked a deeply personal milestone. After brain cancer compromised his left hand at age 21, Zachary spent 6 months rehabilitating both hands to return to public performance for the first time in over 2 decades. The result became part concert, part civic gathering, and part historical record of a generation of survivors who refused to disappear quietly.RELATED LINKSMZLIVE Official WebsiteMZLIVE YouTube VideoFEEDBACKLike 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.
In December 1996, a 37 year old pharmaceutical executive sat in a Borders bookstore reading medical textbooks on the floor, trying to understand a disease she had never heard of. Multiple myeloma carried a three year prognosis. Her daughter was 18 months old. Her father had just died of cancer. Within weeks, she pushed her doctors to say the quiet part clearly. This would likely end her life before her child entered kindergarten.Kathy Giusti refused to accept passive survival. She built a plan while the system offered fragments. She interviewed oncologists and fertility specialists at the same time. She pursued IVF to have a second child while preparing for treatment. She stayed employed to keep insurance coverage. Every decision carried financial, medical, and emotional risk.That same urgency exposed a deeper failure. Cancer research moved slowly. Academic centers guarded data. Clinical trials lacked coordination. Patients entered a system that demanded compliance without providing clarity. Giusti responded by building the Multiple Myeloma Research Foundation, not as a support group, but as an operating engine to accelerate drug development, fund research, and force collaboration across institutions.This episode tracks the tension between individual agency and systemic failure. Giusti describes how patients navigate diagnosis, insurance barriers, and fragmented care in real time. She explains how data, genomics, and clinical trials reshape cancer treatment while still leaving patients responsible for decisions they are not trained to make. She addresses disparities in access, the limits of early detection, and the reality that progress in oncology often depends on speed, funding, and alignment of incentives.The conversation moves between lived experience and structural critique. It names the cost of delay, the burden placed on patients to act as their own advocate, and the tradeoffs required to push a system forward that still protects itself first.⸻RELATED LINKSKathy GiustiMultiple Myeloma Research FoundationFatal to FearlessAmerican Society of Hematology⸻FEEDBACKLike 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.
The ongoing outbreak of hantavirus infections that originated with passengers on the Dutch cruise ship MV Hondius in April has generated concerns across the globe. This very rare occurrence has led to a number of deaths, required quarantining of passengers and prompted emergency responses from public health authorities in multiple countries. On this episode of Raise the Line from Elsevier, we're tapping the expertise of a leading authority on the subject, Dr. Jamie Childs of Yale University, to provide you with a scientific understanding of hantaviruses and what level of threat is posed by this situation. In short, Dr. Childs believes this is not the start of a pandemic. “The Andes variant involved here is one of the most dangerous hantaviruses, but it is totally controllable with contact tracing.” This timely conversation with host Lindsey Smith is informed by Dr. Childs' decades of hantavirus research as well as learnings from his role leading the CDC's environmental investigation during the landmark 1993 hantavirus outbreak in the Four Corners region of the American Southwest. And be sure to stay tuned to hear his concerns about the factors complicating containment of the current Ebola outbreak in East Africa. Note: this conversation was recorded on May 19th, 2026. Mentioned in this episode: Yale School of Public Health Yale Institute for Global 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
We love to hear from our listeners. Send us a message. On this week's episode of the Business of Biotech, Neil McFarlane, CEO at Zevra Therapeutics, talks about transitioning to a focused rare disease company through acquisitions, and building out a commercial organization. Neil explains the importance of working with rare disease patient advocacy groups, using AI to analyze electronic health records and claims data to identify and diagnose patients with Niemann-Pick disease type C, and adapting to regulatory inconsistencies around rare disease drug approval frameworks in the U.S. and Europe. Access this and hundreds of episodes of the Business of Biotech videocast under the Business of Biotech tab at lifescienceleader.com. Subscribe to our monthly Business of Biotech newsletter. Get in touch with guest and topic suggestions: ben.comer@lifescienceleader.comFind Ben Comer on LinkedIn: https://www.linkedin.com/in/bencomer/
Our guest this week is Mike Durso of Philadelphia, PA who is a senior vice president at Ping Identity, a cyber security firm. Mike is the father of three children including one with a very rare disease who is also involved with martial arts. Mike and his wife, Mary, have been married for 21 years and are the proud parents of three children: daughters: Giuliana (19) and Mia (9) and son Dominic (17) who has a rare genetic condition known as RBN12 gene depletion, which has created global developmental delaysWe learn about some fascinating aspects Dominic's situation, his rare disease diagnosis, his schooling at Our Lady of Confidence (OLC) Catholic School, his involvement with Montgomery City Special Olympics, Tiger Schulmann's Martial Arts and the organization's Swing for the Stars program, a special event where individuals with disabilities step into the spotlight and go one-on-one with some of the gym's top fighters. It's more than an exhibition. It's a night built on inclusion, awareness, and respect. Giving these special athletes an experience they'll never forget.Mike has also helped start the Dominator Foundation, a charity committed to raising funds for student activities & scholarships so families facing financial hardship can send their children to OLC.It's an uplifting story about faith, family, acceptance and embracing life all on this episode of the Special Fathers Network Dad to Dad Podcast.Show Notes -Phone – (267) 254-7840Email – durso2323@gmail.comLinkedIn - https://www.linkedin.com/in/michaeldurso/Spot.fund/thedominatorfoundationInstagram - https://www.instagram.com/thedominatorfoundation?igsh=MXc3NXQ5bDN1dDJ1OA==Order your copy of the new 21CD book: Dads Raising Chidlren With Special Needs & Disabilities: A Guide For 21st Century Dads on Amazon: https://amzn.to/4tdvjcvJoin 21CD on the SFN U.S. Tour, a 30 day, 50 state, 60+ stop tour taking place from May 21 to June 21, 2026: to strengthen and grow the Special Fathers Network and distribute 2,000 complimentary copies of our new book. 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.Join the SFN U.S. Tour in one of 60+ locations all across the U.S. from May 21st to June 21st. Go to www.21stCenturyDads.org for additional informaiton. Please conisder hosting, co-hosting or simoly joining the tour near your home. 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/
We mark National Mental Health Awareness Month on this episode by tapping the expertise of Dr. Steve Strakowski, an internationally recognized expert in bipolar disorder, who has spent decades studying the neurobiology and treatment of mood conditions while pushing just as hard on the structural barriers that keep effective treatments out of reach for more than half the people who need them. In this conversation with Raise the Line from Elsevier host Michael Carrese, Dr. Strakowski explains why access, not science, is now the biggest obstacle to improving mental health outcomes. He also addresses the heavy toll society pays for underfunding mental health prevention and treatment programs. “The money is spent eventually, but in the most expensive places like emergency rooms and prisons, and there is the human cost of suffering and suicides." This important discussion also covers: The persistent problem of Black patients presenting with mania being misdiagnosed with schizophrenia; Why he describes bipolar disorder as a reward-processing illness; The emerging therapies he finds encouraging. Mentioned in this episode:Indiana University 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
At 19, Shlomit woke up unable to speak. The right side of her body went numb. An emergency room sent her home and called it stress. That moment did not end in a diagnosis that changed policy or triggered reform. It sent her into a decade long pursuit of understanding how the brain fails language and how the healthcare system fails patients who cannot advocate for themselves.Shlomit trained as a speech language pathologist and spent years inside acute care hospitals and ICUs, performing endoscopies and treating patients with brain injury, stroke, and dysphagia. She watched medical teams rotate in and out, deliver dense updates, and leave families nodding without comprehension. She stayed behind and translated. Every day, patients told her she was the only one who explained what was happening. That gap is not an accident. Hospital systems optimize for throughput, not understanding. Patients move through beds based on cost, not readiness. Discharge planning becomes a financial decision wrapped in clinical language. A stay under 48 hours can shift the insurance burden dramatically, leaving patients exposed to higher out of pocket costs. Shlomit left the system and built Patient Path NYC, a private patient advocacy service. She now spends 15 to 20 hours a week per client reading charts, coordinating care teams, and translating medical decisions into plain language. Her work sits in the uncomfortable space between healthcare policy and lived experience. Families pay out of pocket to understand their own care. Hospitals benefit from the clarity she provides while maintaining the same structural incentives that created the confusion.This conversation tracks the human cost of fragmented care, the economics behind discharge decisions, and the quiet reality that patients who cannot communicate clearly often lose control of their own outcomes.RELATED LINKSShlomit LibertyShlomit Liberty on LinkedInPatient Path NYCBoard Certified Patient AdvocateFEEDBACKLike 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.
On this episode of Justin, Scott, and Spiegel we are joined by Erik Woodworth!!! Tune in to hear the Morning Boys talk about rare diseases we've had over the years. What did we overcome? Hit play to find out!
In 2020, developmental biologist Dr. Crystal Rogers drove the country roads outside Davis, California crying between grant rejections, wondering whether she was about to lose her lab, her career, and the scientific future she had spent years building. She had already done what academia tells young scientists to do. She earned the credentials. She landed a faculty position at UC Davis. She built a lab. Then the real test began.On this episode of Standard Deviation, Dr. Oliver Bogler examines the unspoken rules that determine which scientists survive academic research and which quietly disappear from it. The conversation follows Crystal Rogers and cancer biologist Dr. Michelle Mendoza as they collide with the “Hidden Curriculum” of biomedical science: the unwritten rhetoric, institutional signaling, and grant writing strategies that often decide who receives funding, tenure, and long term stability.Michelle Mendoza entered a tenure track position at the Huntsman Cancer Institute while raising 3 children, navigating a divorce, and trying to secure major NIH funding during COVID. What looked like objective scientific review turned out to depend heavily on persuasion, presentation, and insider fluency. Established researchers could promise massive research agendas based on reputation alone. Junior investigators faced a completely different standard.Oliver traces how the Life Science Editors Foundation and its JEDI program intervened by pairing scientists with former editors from journals including Cell and Nature. The work had little to do with commas or grammar. Editors challenged logic, structure, and scientific framing before grant reviewers could destroy an application in public.Both researchers eventually secured career defining grants. One realized she would keep her job and not have to move her family. The other celebrated by ordering a personalized “DEV BIO” license plate and driving through Davis blasting nineties hip hop and Beyoncé.The episode exposes how biomedical research funding rewards institutional fluency as much as scientific talent, and how hidden systems inside academic medicine continue shaping who gets to stay in science long enough to make discoveries.RELATED LINKSDr. Crystal Rogers LinkedInDr. Crystal Rogers Faculty PageDr. Crystal Rogers LabDr. Michelle Mendoza LinkedInDr. Michelle Mendoza Faculty PageHuntsman Cancer Institute Mendoza LabLife Science Editors FoundationFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
In 2008, Katy Talento walked away from Capitol Hill and into a Catholic convent. Within a year, she walked out. Within another decade, she sat inside the White House shaping health policy. Somewhere in between, she got labeled “infertile” after a single cycle of testing and spent years believing it.That label stuck. The pain that came before it never got investigated. Doctors offered birth control and moved on. No one asked why her body was struggling. No one followed the thread.Talento built her career inside the very systems she now critiques. She worked on federal health policy, global disease programs, and later advised the Trump administration on healthcare reform. She helped advance price transparency rules in a system where hospitals can still list 457 different prices for the same service.Then she left.Now she builds employer health plans that bypass insurers, PBMs, and traditional networks. Her approach replaces insurance contracts with direct payment, nurse navigators, and cost sharing models that promise simplicity but raise hard questions about risk and protection.This conversation sits in that tension.Talento describes a healthcare system shaped by layered incentives, where insurers, hospitals, and intermediaries profit from complexity. She argues that employers hold the leverage to disrupt it. The host pushes on what happens when patients fall outside those structures, when contracts disappear, and when community based models fail.The episode moves through infertility, misdiagnosis, insurance design, and the mechanics of employer sponsored care. It tracks how policy decisions made in Washington ripple into exam rooms, billing departments, and family lives.It also confronts a harder truth.Even insiders who understand the system can still get caught in it.RELATED LINKSAllBetter HealthKaty TalentoThem Before UsAn Arm and a LegRelentless Health ValueFEEDBACKLike 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.
Rihanna wants you to know what's really going on with her babydaddy! Charli XCX releases "Rock Music" and the internet has thoughts. Ed Sheeran has fallen ill.See omnystudio.com/listener for privacy information.
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