Podcasts about rare diseases

"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

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.

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

When Kasey Walsh's daughter was diagnosed with an ultra-rare genetic disorder, she discovered a frustrating paradox: researchers desperately needed insights from patient families, yet institutional barriers made it nearly impossible to capture the nuanced, lived experiences that could inform drug development and improve care. Drawing on her background as a healthcare service coordinator and her firsthand experience navigating rare disease research, Walsh created Winsights, a platform that transforms casual patient conversations into structured, regulatory-grade data while ensuring families retain ownership and control over how their contributions are used. Walsh, founder and CEO of Winsights, discusses her daughter's diagnostic journey, the critical gaps in how patient experience informs drug development, and how Winsights empowers rare disease communities to drive research priorities.

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.

In this episode of Better Thinking, Nesh Nikolic speaks with Dr Eden Robertson about the psychosocial needs of families affected by rare disease and how lived experience can drive better, more compassionate healthcare.Dr Eden Robertson is a Sydney‑based behavioural scientist specialising in understanding and addressing the psychosocial needs of children and families navigating complex, rare disease. For more than a decade, she has worked alongside families, clinicians and advocacy organisations to identify unmet needs and co‑design interventions that are both evidence‑based and genuinely usable in real‑world care. Her academic training spans a Bachelor of Psychology (Honours), a Graduate Certificate in Adolescent and Young Adult Health and Wellbeing, and a PhD in Medicine. Eden has made significant contributions to her field, including developing the world's first family decision‑making resource for childhood cancer clinical trials, designing and evaluating a new model of care for caregivers of children with genetic epilepsy, and more recently supporting people affected by inherited retinal diseases to better understand and engage with advanced therapeutics. Highlighting her leadership in the field, she was awarded a prestigious Fulbright Scholarship in 2020.Drawing on experience across academia, health services and the non‑profit sector, Eden brings a unique cross‑system perspective that strengthens her ability to translate evidence into meaningful, practical solutions for children, families and the teams who support them.

A mother, advocate and one woman's global fight for access. Beth Vanstone is working to ensure rare disease patients don't have to wait for the treatments they need to survive. Sometimes the most powerful friendships begin in the most unexpected places.  Beth Vanstone and I first connected on social media. At the time, we were simply two moms navigating the complicated, emotional, and relentless world of cystic fibrosis. But eventually the online messages turned into something more meaningful. Then, Beth attended one of The Bonnell Foundation's Gala events. That's when we finally met in person.  And from that moment on, we became dear friends.  It's proof that social media, when used for connection and purpose, can build incredible relationships. But what inspires me most about Beth isn't just our friendship. It's her relentless determination. Beth is the mother of Madi, who was diagnosed with cystic fibrosis at just eight months old. Suddenly Beth was navigating a healthcare system, researching treatments, learning medical language, and fighting for her daughter's future. Beth didn't stop there. Instead of focusing only on her own family, she chose to fight for every family. Today, Beth is a powerful advocate in Canada and a member of the Ontario Rare Action Group, where she works to improve access to life-saving therapies for people living with rare diseases like Cystic Fibrosis. And the reality she's fighting against is one many people don't understand. Most healthcare systems, not just in Canada but around the world were built to treat common diseases. They weren't designed for rare conditions that affect smaller populations. Because of that, patients with rare diseases often face enormous barriers: long approval timelines, delayed access to medications, and exhausting advocacy battles just to receive treatments that already exist. In some cases, patients wait months — even years — for medications that could dramatically improve or extend their lives. Beth is working to change that. Through her advocacy, she's pushing for reforms that could make a real difference for patients across Canada and beyond: • Faster access to innovative therapies • Improved newborn screening programs • Better diagnostic pathways • Centers of excellence for rare diseases • Removing financial barriers like deductibles that prevent families from accessing public programs And she's also raising an important global conversation. Here in the United States, lawmakers have debated policies like the Most Favored Nation Model, which look to international drug pricing systems like those in Canada and Europe as a model. But Beth reminds us that every system has challenges, and for rare disease patients, those challenges can be life-changing. Because when access to medication is delayed… Access is denied. And that's why advocacy across borders matters. She's not just advocating for her daughter. She's advocating for every patient still waiting for their breakthrough. And today, we're talking about what needs to change and how all of us can help make it happen. 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

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.

"When the workforce does not align with the population, your system is misaligned by design." That candid observation comes from Tina Loarte-Rodríguez, DP, RN who has spent much of her two decade career in patient safety, risk management, and systems leadership as the only Latina in the room, which she sees as a signal of a systemic failure that demands structural solutions. As we mark National Nurses Month, Dr. Loarte-Rodríguez joins Raise the Line from Elsevier  host Lindsey Smith to explain why a culturally congruent workforce has important implications for access, trust and quality of care. This wide-ranging discussion also covers: What Dr. Loarte-Rodriguez means by "narrative infrastructure" and how a book series born during COVID is now shaping workforce conversations nationwide;   The case for making mentorship a core institutional system;   Why nursing burnout is not about a lack of resiliency.  Mentioned in this episode: Latinas in NursingThe Connecticut Center for Nursing Workforce 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 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.

Three million Canadians live with a rare disease, but many still struggle to get treatment. Jeremy Harany was diagnosed as a child with hypophosphatasia, which weakens bones and can cause early tooth loss, but then spent decades without answers. A chance connection later in life led him to life-changing treatment. Now he's pushing for faster, more consistent care for others with rare diseases.

Six days I've spent on the politics of AI — who got told, paid, asked, recorded, who showed up, who got the bill distributed before the senator read it. Today is a different question. Does the technology actually do something that matters?Today's article is about rare diseases. 30 million Americans live with one. The average diagnostic odyssey is seven years. AI is starting to compress that to weeks.Rare disease is the cleanest commercial case in medical AI. Motivated families. Niche markets. The orphan drug pipeline is a $200 billion market by 2030. Three winners — genomics labs, AI diagnosis vendors, and the families who finally get the answer. The losers are the data brokers who sat on it for a decade.But genomic data isn't like other medical records. It's hereditary. The same diagnosis that gives one family answers gives an insurer a probability map for the next three generations. The diagnosis is medicine. The leak is policy.And the bottleneck isn't intelligence. The model has been clinical-grade for 18 months. The patient still waits seven years. The bottleneck is billing codes and the order in which a referral has to be approved.This is the article that justifies the noise. Six days of AI policy argument matter because of stories like this. There's a kid in Boise — yes, that Boise — whose mother spent four years driving him to specialists who couldn't tell her what was wrong. AI named it in eleven minutes. That kid doesn't care who wrote the New Jersey compliance bill. He cares that he finally has an answer.Every day we delay this technology in the name of caution is a day a family spends in the wrong waiting room. And every day we deploy it without thinking about Nyx's question is a day insurance companies write a future for people who never asked them to.⏱️ Chapters0:00 — Six days of policy. One day of medicine.0:25 — MiniDoge: rare disease is the cleanest commercial case0:55 — Nyx: genomic data leaks three generations1:25 — HH: the bottleneck isn't intelligence — it's the paperwork1:50 — MiniDoge: three winners and the brokers who sat on it2:15 — Saarvis: a generation given back⚡ Learn agentic ai free - https://staas.fund/ai-workshop ⚡-----

Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. In a rapidly evolving industry landscape, artificial intelligence has emerged as a game-changer, transforming how major pharmaceutical companies approach drug development and diagnostics. Roche's strategic acquisition of PathAI for over $1 billion exemplifies this shift, highlighting the growing importance of AI-driven diagnostics in digital pathology. This move signals a broader trend where AI is no longer just a theoretical concept but a practical tool enhancing healthcare delivery. Alnylam's recent challenges with its web-based presentation of Amvuttra data underscore the need for accuracy in representing clinical data digitally—showing that while AI can offer innovative ways to present data, it also demands rigorous standards to ensure clarity and prevent misleading claims. On the regulatory front, the FDA's evolving stance on cell therapy Ebvallo, alongside its new one-day assessment pilot program, is shaping the industry's regulatory environment. The reconsideration of Ebvallo's earlier rejection due to single-arm trial data concerns illustrates the FDA's willingness to adapt its regulatory framework to accommodate innovative therapies. This adjustment could potentially pave the way for other gene therapies in development, including those by UniQure. Moreover, Sanofi's withdrawal of Tzield from the FDA's contentious Commissioner's National Priority Voucher program reflects ongoing debates about expedited review processes, underscoring the need for transparent and efficient pathways for bringing new therapies to patients swiftly. Additionally, the FDA's AI-guided inspection pilot aims to modernize compliance strategies and enhance pharmaceutical manufacturing oversight. In clinical trials, companies continue to face both triumphs and setbacks. Entrada Therapeutics experienced a significant decline in stock value following underwhelming Duchenne Muscular Dystrophy trial results, potentially reshaping competitive dynamics in favor of rivals like Novartis. Conversely, Angelini Pharma is making strategic moves with its $4.1 billion acquisition of Catalyst Pharmaceuticals, targeting market expansion in the U.S. through Firdapse, which is poised to make significant impacts in treating rare diseases. MingMed Biotechnology's promising phase 2 results for QA102 could signal new treatment paradigms for dry AMD—a condition with limited current interventions. Therapeutic innovation is also being driven by policy shifts that encourage research into psychedelic drugs for mental health treatment. Optimi Health's IPO indicates growing investor interest in this area, fueled by regulatory easing under recent executive orders aimed at facilitating psychedelic research. Strategic pipeline adjustments are evident as companies realign their focus based on emerging data insights. Ascendis Pharma's decision to halt its IL-2 oncology program marks a shift toward more promising avenues, while Beone Medicines' restructuring reflects a similar strategy by discontinuing several early-stage cancer programs. The industry's dynamism is further illustrated by Eli Lilly's substantial $4.5 billion investment in expanding its Indiana campus. This move not only enhances Lilly's capacity for genetic medicine and metabolic disease manufacturing but also underscores a broader industry commitment to precision medicine and biologics—fields anticipated to play pivotal roles in future healthcare solutions. Meanwhile, Bayer's acquisition of Perfuse Therapeutics seeks to bolster its ophthalmology portfolio, addressing significant unmet needs in eye disease treatments. Novo Nordisk's success with Wegovy highlights strong market demand for effective obesity treatments, demonstrating an industry-wide shift towards addressing lifestyle-related diseases. LegislSupport the show

The doctor is in....the box.  That's one way to describe how patients are now encountering their physicians in what's being described as the future of telehealth. Imagine that instead of a cancer patient in a rural area driving hours for an appointment to see their specialist at an academic health center, they can go to their local clinic and see a life-size, real-time, 3-D projection of them in a seven foot tall light box.  The doctor can see the patient through two-way video, and is assisted by a clinician in the exam room. The technology behind this remarkable scene is provided by a Los Angeles based start-up called Proto Hologram, whose founder and chairman, David Nussbaum, joins us on this episode of Raise the Line from Elsevier. "Our holograms start where Zoom ends and where physically being there begins," says Nussbaum, a TIME Healthcare100 honoree who has spent the last decade developing commercial and educational applications for holograms.  In addition to clinical settings, Proto units are being used at medical schools and senior living facilities and are playing a role in public health campaigns about breast cancer and vaccines. Join host Lindsey Smith for a fascinating conversation that covers: The role of holograms in extending access to specialty care; How the technology could be used to combat loneliness among seniors; Nussbaum's philosophy of "commercializing the impossible". Mentioned in this episode: Proto Hologram 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

Matching phenotype to genotype at scale could transform how rare diseases are found, understood, and treated. Komodo Health has partnered with GeneDx to build one of the most comprehensive longitudinal rare disease datasets ever assembled. John Wollman, head of revenue strategy at Komodo Health, discusses how Komodo's longitudinal real‑world data on more than 330 million de-identified U.S. patient journeys, combined with GeneDx's genomic testing and rich phenotypic information, can shorten diagnostic odysseys, rapidly enable natural history studies, and help stakeholders across the rare disease continuum make smarter and faster decisions for people living with rare diseases.

RARE MAMAS RISING- EPISODE 56 Learning to Mother Ourselves   In this Mother's Day episode of Rare Mamas Rising, Nikki explores what it means for rare moms to mother themselves with the same tenderness, attention, and care they so freely give their children. From noticing our needs before they become emergencies, to honoring our limits, speaking to ourselves with kindness, advocating for our own well-being, creating a soft place to land, and making room for joy and delight, this episode is a gentle reminder that rare mamas are worthy of good care too. Because we are not only the ones who comfort, protect, and hold everyone else—we are human beings with hearts that need holding, bodies that need rest, and spirits that need tending. Happy Mother's Day, rare mamas! 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

In a wooded campground cabin in the early 2000s, 19 year old Ben Unger stood in the doorway and watched 20 naked men form a circle around a crying teenager. A counselor held up two tangerines and shouted, “These are your balls.” The exercise claimed to cure same sex attraction by forcing young men to “reclaim” their masculinity from overbearing mothers. Phones had been confiscated. Parents had paid thousands of dollars. Religion supplied the script. Pseudoscience supplied the props.Ben had grown up in an Orthodox Jewish community in Brooklyn and later studied in Israel to become a rabbi. When he admitted he felt attracted to men, rabbis told him to eat 7 figs a day, immerse in a ritual bath 5 times daily, or marry a woman and trust that “if there's friction, it works.” At 19, he entered conversion therapy through an organization called Jews Offering New Alternatives to Homosexuality, known as JONAH. He left with depression, religious trauma, and 6 months of silence toward the mother he had been taught to blame.Years later, represented by the Southern Poverty Law Center, Ben helped sue JONAH for consumer fraud in a landmark New Jersey case. The argument centered on evidence, not theology. Sexual orientation cannot be changed. The jury deliberated for 3 hours and ruled against the organization. The verdict helped reshape how states regulate conversion therapy and protect minors from psychological harm disguised as treatment.Today, Ben runs Buff Personal Training in New York City, a gym built on autonomy, mental health, and self respect. His story traces the arc from institutional control to self authorship. The conversation examines religion, LGBTQ rights, conversion therapy, consumer protection law, and the lasting cost of being told your identity is a disorder.RELATED LINKSBen Unger on LinkedInBen Unger on InstagramBUF Personal TrainingSouthern Poverty Law CenterJONAHFEEDBACKLike 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.

Between 1918 and 1920, the Spanish Flu killed 50 million people worldwide.  This pandemic, arrived on the heels of WW1, and between the two events, nearly 5% of the world's population was killed.  But there was another pandemic occurring, one that is less well known and less frequently talked about, that remains a mystery to this day.  In the winter of 1916 in Europe, people were seeking medical attention for general malaise.  At first, it looked like a mild case of the flu with fever, headaches, and fatigue.  Many would recover, but some would begin exhibiting tremors and many slowed down mentally and physically, until they were completely immobile despite being conscious and alive.  The symptoms presented on a spectrum, but patients sometimes experienced lethargy or even obtundation, paralysis of eye muscles, rigid muscles, frozen posture, loss of speech, and sudden immobility.  In some cases, the progression was overnight.  In others, it took weeks to months.  Doctors called it Encephalitis Lethargica, but no one really understood it.  Some patients slept for days.  Others stayed awake, trapped inside bodies that no longer moved.  Hundreds of thousands of people lost the ability to walk and talk, and then in 1928 new cases just stopped appearing.  By then, however, there had been more than 1 million cases, and half of those had ended in death.  Those that did survive, often developed a post-encephalitic Parkinsonism leaving them rigid, slow, and unable to move normally for the rest of their lives.And then, just as mysteriously as it appeared… it vanished.  So what was this disease? A viral epidemic? A post-war complication? Something we still don't fully understand?  This week, we're diving into one of the most unsettling medical mysteries in modern history, Encephalitis Lethargica, also known as the Sleeping Sickness.Send us Fan MailSupport the showTheme song by INDA

Show Notes:  Miguel Sancho shares his background, mentioning his small-town roots in eastern Kansas and his education at Harvard and Phillips Andover Academy where he studied government and history. He discusses his initial plan to pursue a PhD and become an academic but instead moved to New York City to try his hand at music. Miguel transitioned from music to journalism, starting in 1993, and worked in various roles, including as an investigative journalist for Inside Edition, and 20/20 a prime time show on ABC News, and CBS News. Launching a Production Company Miguel talks about his personal life, including his marriage, children, and the challenges of raising a son with a rare immune deficiency. He describes the six-year journey to find a bone marrow transplant for his son, which ultimately succeeded at Duke University Hospital. Miguel left ABC News to start his own production company, working on specials and series for various networks, including A&E and News Nation. He mentions his book More Than You Can Handle, published in 2021, and his new book Evidence of the Extraordinary, set to be released soon. Exploring Evidence of the Extraordinary Miguel discusses his new book, Evidence of the Extraordinary, which explores unexplained phenomena like UFOs, legendary creatures, and miracles. It was derived from one of the television shows Miguel produced. He explains how the COVID-19 pandemic led him to take on a show on the History Channel called The Proof is Out There, which investigates anomalous phenomena. Miguel shares his initial skepticism about the paranormal but acknowledges the importance of investigating these phenomena with a journalistic approach. He talks about some of the most extraordinary unexplained phenomena, including deep-sea discoveries, and  the Havana Syndrome. He highlights the challenges of balancing skepticism with the possibility of rare, unexplained events, and the importance of humility when addressing what we think we know.   Undercover Journalism at Inside Edition Miguel describes his experience at Inside Edition, where he wore hidden cameras to investigate corrupt and criminal organizations. He shares specific cases, including infiltrating a pit bull fighting ring and a drug-dealing carnival worker. Miguel discusses the legal and ethical considerations of undercover journalism, emphasizing the importance of thorough research and planning. He reflects on the skills required for undercover work, such as acting stupid and eliciting information from subjects, and how the public's cognitive dissonance plays a role in limiting detection. Challenges of Working in Television Miguel talks about the transition from being an employee at networks to running his own production company. He explains the process of setting up an SCorp and the responsibilities of managing a production company, including pitching shows and maintaining client relationships. Miguel describes the development process of selling a show to a network, including creating detailed pitch documents and securing talent. He discusses the challenges of the evolving TV industry, including the rise of streaming platforms and the need for scalable content. Life Altering Challenges Miguel shares the personal story of his son's rare immune deficiency and the journey to find a cure. He describes the emotional and practical challenges faced by his family, including the impact on their mental and physical health. Miguel highlights the importance of medical research and the role of institutions like the National Institutes of Health and Duke University Hospital in providing life-saving treatments. He reflects on the broader implications of rare disease diagnoses on families and the need for support and understanding. Harvard Reflections Miguel reminisces about his time at Harvard, mentioning influential professors like Bernard Bailyn, Elaine Scarry, and Judith Shklar. He discusses the impact of Judith Shklar's teachings on individual rights, group rights, and the importance of avoiding cruelty. Miguel shares his experience of reading E.O. Wilson's "On Human Nature" years after his course with Wilson, which led to a new appreciation for Wilson's work. He reflects on the lasting influence of these professors on his professional and personal life. Current Projects Miguel talks about his current projects, including a new show in development and his ongoing work with News Nation. He discusses the potential of prediction markets and interactive elements in future TV content to engage younger audiences. Miguel reflects on the evolving landscape of the TV industry and the importance of adapting to new technologies and platforms.  Timestamps: 02:02: Personal Challenges and Professional Pivots  04:26: Investigating Unexplained Phenomena 18:28: Investigative Techniques and Notable Cases 33:43: Transition to Independent Production 41:42: Impact of Rare Diseases on Families  42:21: Influence of Harvard Professors  Links: LinkedIn: https://www.linkedin.com/in/miguel-sancho-b7aa37a/ More than You Can Handle: https://www.penguinrandomhouse.com/books/611475/more-than-you-can-handle-by-miguel-sancho/ Evidence of the Extraordinary: https://www.simonandschuster.com/books/Evidence-of-the-Extraordinary/Miguel-Sancho/9781668085455 *AI generated show notes and transcript  

“One of the reasons The Pitt has been so successful is because it's showing real expertise in a time when everybody thinks they're an expert,” says Dr. Mel Herbert, who brings decades of experience as an emergency medicine specialist to his work as a writer and consultant on the hit HBO Max show. Dr. Herbert, who was also a consultant on the groundbreaking TV drama ER, is one of seven physicians on The Pitt's writing and production team, which explains the high degree of medical accuracy that is a hallmark of the show. But Dr. Herbert is also proud of the emotional accuracy captured on screen. “It's about the emotions. It's about the stress. It's about how it really affects the doctors and the nurses that I've found the most interesting to write about.” In this candid conversation with host Lindsey Smith, Dr. Herbert talks about his own struggles coping with the demands of life in the emergency room and the importance of letting clinicians know that help is available. “You don't have to suffer. We can help you now in ways we couldn't even do ten years ago. That's the story I want to tell.”  In addition to his work using TV as an educational vehicle, Lindsey and Dr. Herbert discuss his real world efforts to provide emergency medicine education across the globe through his companies EM:RAP and EM:RAP GO.  Stay tuned to this very special episode of Raise the Line with Elsevier in which you will also: Learn how writers tackle misinformation and hot button health topics; Get a behind the scenes look at how actors learn complex medical terminology; Discover who Dr. Herbert's favorite characters are. Mentioned in this episode: The PittMental Health Resources from American College of Emergency PhysiciansEM:RAPThe Extraordinary Power of Being Average 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

Whole genome sequencing is reshaping the rare disease diagnostic odyssey by replacing years of serial, narrow gene panels and helping patients with suspected rare diseases obtain faster, more definitive answers. Akash Kumar, co‑founder and chief medical officer of MyOme, discusses where genome sequencing now fits into care pathways, how it captures hard‑to‑detect variant types; and what it means for treatment decisions, clinical trial access, and the emotional burden on families searching for a diagnosis.

One of the most persistent barriers in rare disease drug development isn't the science — it's identifying and reaching the small number of patients who could benefit from emerging therapies.Without solving this, even the most promising innovations risk never reaching the people who need them most.In our latest podcast episode, we explore how the industry can better connect patients to clinical trials — and why this is critical to accelerating progress in rare disease.We're delighted to welcome Dr Jennifer Levin, CEO of Medzown, who shares how her team is working to redefine the healthcare ecosystem by improving patient access to advanced therapies and clinical trials across cancer, rare, and complex diseases.If you're working in clinical development, patient recruitment, or rare disease, this is a conversation worth your time.

Drew Flugstad-Clarke never planned to work in brain cancer. She planned to play Division I soccer at Georgetown. She planned to paint. She even tried investment banking, answering emails at 4am in a cubicle that never slept. Then in June 2022 her father, Jim, was diagnosed with glioblastoma at 57. He died 1 day shy of 7 months later, just before his 58th birthday. His symptoms began with emotion, not seizures. A steady HR executive suddenly cried. His golf game slipped. By the time he entered the hospital for a scan, he did not leave without surgery. A subway poster for a 5K became a lifeline. Drew showed up. She found a community. She later joined the American Brain Tumor Association as Community Manager for the Eastern Region. This conversation walks through anticipatory grief, caregiving in real time, strategic numbness, and what it costs to curate hope when the median survival clock is already ticking.RELATED LINKSDrew Clark Flukestad on LinkedInTopor StudiosAmerican Brain Tumor AssociationGeorgetown University Women's SoccerFEEDBACKLike 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.

Learn how AI and whole genome sequencing are transforming rare disease diagnostics, reducing the diagnostic odyssey for families and enabling faster, more accurate clinical decision-making. This episode was recorded live at Becker's 16th Annual Meeting on April 15, 2026.It features insights from Dr. Shannon Haymond, Chief of Pathology and Laboratory Medicine at Ann & Robert H. Lurie Children's Hospital of Chicago and Vice Chair for Pediatric Pathology at Northwestern University Feinberg School of Medicine and Dr. Calum Yacoubian, Director for Health Data Enablement, Applied AI Science, IQVIA. This episode is sponsored by IQVIA.

"Headache is just a teeny piece of the puzzle," says Dr. Regina Krel, an insight that's at the heart of why migraine syndrome, one of the leading causes of disability worldwide, remains so persistently misunderstood. In this informative conversation with Raise the Line from Elsevier host Michael Carrese, Dr. Krel, the director of Headache Medicine at Hackensack University Medical Center, explains migraine as a storm that sensitizes the entire brain, not just the site of the headache, which explains the long list of symptoms people experience including sensitivity to light and sound, brain fog, fatigue and problems with balance. “The headaches can be severe, but it's the other symptoms that really kind of take over your whole body that make patients dysfunctional.” Dr. Krel also explains why migraine disproportionately impacts women in the prime of their working and caregiving years, and offers guidance for treating migraines in women, whose symptoms are commonly dismissed by non-specialists. Stay tuned to also learn about: The "migraine triangle"; Why stigma around migraine persists even in doctors' offices; New treatment options including neuromodulation devices. Mentioned in this episode: Headache Center at Hackensack University Medical Center 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

There are few neurodegenerative diseases as devastating as Huntington's. It's sometimes likened to having Parkinson's, ALS and Alzheimer's all at the same time, with symptoms that include progressive motor dysfunction, cognitive decline and behavioural change. It's also hereditary — if a person has the faulty gene that causes the disease, there's a 50 percent chance their children will have it, too. In the fall of 2025, however, scientists announced that, for the first time, they could reduce the progression of Huntington symptoms using a new gene therapy. While that clinical breakthrough came with several caveats, it also heralded a possible new paradigm for drug discovery. In this episode, we explore how this innovative therapy works and what it could mean for the treatment of other rare diseases.  Featured in this episode: Rachel Harding is an assistant professor in the department of pharmacology and toxicology at the University of Toronto and a principal investigator at the Structural Genomics Consortium. Her work on Huntington's disease has been recognized with major early-career awards, highlighting both scientific excellence and the potential patient impact of her research program. Further reading: Research is unravelling the mystery of what causes Huntington's disease, a devastating brain disease In a first, a gene therapy seems to slow Huntington disease “Best news” for Huntington's disease community comes with unanswered questions The Huntington's disease research pipeline World's first patient treated with personalized CRISPR gene editing therapy at Children's Hospital of Philadelphia Solve for X is brought to you by MaRS, North America's largest urban innovation hub and a registered charity. MaRS supports startups and accelerates the adoption of high-impact solutions to some of the world's biggest challenges. For more information, visit marsdd.com.

Janine Durso spent 30 years inside pharmaceutical advertising shaping healthcare narratives before becoming a belief strategist and founder of The Believist. In November 2024, during a routine Zoom coaching session, she felt what she called a sharp, terrible pain in the right side of her head. Within hours she was in surgery for a ruptured brain aneurysm. She does not remember the ambulance, the ICU, or the first weeks that followed. She spent 5 weeks in intensive care, then 10 days relearning how to walk, calculate simple change, and manage basic cognition. Doctors later placed a stent and continue monitoring a second unruptured aneurysm.This episode traces the moment she told her husband something broke in my brain, the 14 days doctors called touch and go, and the slow mental rebuild that followed. It also examines insurance barriers that require 2 direct relatives with aneurysms before screening coverage, and why she now lobbies in Washington for change.RELATED LINKSJanine DursoThe BelievistBrain Aneurysm FoundationWhite Plains HospitalDr. Jared CooperFEEDBACKLike 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.

Carolyn Philstrom is an ordained minister in the Evangelical Lutheran Church in America and works as a healthcare chaplain, with experience at both a major academic teaching hospital and in hospice. She lives with her husband Rory and their two children Edan, 7 and Josephine 3. Edan was one of the first humans to be diagnosed with Spinal Muscular Atrophy on the newborn screen in Minnesota and was treated before the onset of symptoms. He is a miracle child, developing without signs or symptoms of SMA. She is an independent rare disease advocate, working to advance newborn genomic sequencing, helping SMA patients in other countries create patient advocacy groups, and assists companies who are dedicated to affordable and accessible gene therapies expand and advance their mission. Carolyn is a proud monthly donor to Genomes2People, Dr. Robert Green's (Harvard University) non-profit working to advance genomic medicine. Most recent blog about our story (2025) Blog I wrote for Harvard University (2024) Speech I gave for Harvard University (2024) Washington Post article about newborn screening Bloomberg Article about newborn screening Dr. Tim McLerran is a physician-turned product leader with a mission to bring human and machine intelligence together in the service of clinical challenges. During a research fellowship at the University of California, San Diego, Tim co-developed methods to rapidly measure the molecular milieu of human blood using mass spectrometry. This exposed him to the massive volume of data in precision medicine, and precipitated a realization that artificial intelligence would have to be a part of medicine in order for us to make full use of the data available for each patient. As an entrepreneur and product leader, Tim has developed and deployed systems which provide AI support to clinicians in diagnosis, management, documentation, and patient communication. He is dedicated to the quadruple aim of healthcare, practices user-centered design, favors lean and agile methods of software development, and actively advocates for the ethical principles laid out by the American Medical Association in their November 2024 statement "Augmented Intelligence Development, Deployment, and Use in Health Care.

To mark the sixth anniversary of Raise the Line from Elsevier we're revisiting one of the most remarkable stories we've had the privilege of sharing over the last 575 episodes. To do that, we're delighted to welcome back Dr. David Fajgenbaum, a physician-scientist who repurposed an existing medication that saved his own life from Castleman disease, an ultra-rare condition that nearly killed him on five occasions. Because there was no treatment specifically for Castleman, Dr. Fajgenbaum set out to find a previously approved medication that might work. “I eventually found a drug that was made for another disease 50 years ago. It's been over 12 years that I've been doing great on this medicine.”   When he first joined us in 2022, Dr. Fajgenbaum was just launching a non-profit organization called Every Cure with the hope of replicating the success he achieved in his own case, and as you'll learn in this inspiring interview with host Lindsey Smith, its work has already saved thousands of lives. “It's a tragedy if someone dies while there's already a drug in their local hospital that could help them.”  In the latest installment of our Year of the Zebra series on rare conditions, you'll hear an inspiring example of a life saved by this approach and also learn about: The role of artificial intelligence in scanning thousands of medications and diseases to find possible matches; How Every Cure decides which drugs merit the costly research needed to confirm a match;  Dr. Fajgenbaum's philosophy of “living in overtime.” Mentioned in this episode:Every Cure Osmosis Video on Castleman Disease Dr. Fajgenbaum's Bestselling Memoir, Chasing My Cure 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

Many viewers know Becky Quick as the steady voice on CNBC's “Squawk Box,” where she explains what's happening on Wall Street and interviews the world's top business leaders.  Now, she joins Mark Masselli and Margaret Flinter to share a very different story, one she lived privately for years while navigating her daughter's rare genetic diagnosis. Quick's […] The post Why CNBC's Becky Quick is Bullish on Rare Disease Cures: Her Family's Story appeared first on Healthy Communities Online.

Send us Fan MailWhy does it take five years to diagnose a child with a genetic disease when the answer is available in 48 hours?In this clip from our episode “How Genomics Is Transforming Rare Disease Care”, host John Driscoll and guest Katherine Stueland, CEO of GeneDx, expose one of the most frustrating gaps in pediatric medicine today.

Rebecca Benghiat holds a JD, passed the bar, and skipped corporate law to build mental health systems instead. She now serves as Chief of Staff and Head of Impact at Inner Foundation, where she helps direct capital toward emerging adults ages 18 to 30 and asks a hard question every day: Is this actually working?In this conversation, she dismantles the myth of easy fixes. She explains why mental health measurement resists clean metrics, why a PHQ 9 score starts a conversation but never finishes one, and why “scale” often flatters institutions more than it helps people. She breaks down how impact investing shapes care delivery, why schools need networked systems not slogans, and why friction might be developmentally necessary.The stakes are real. Vulnerable families navigate snake oil, glossy apps, and pay to play algorithms while carrying the burden of choice in crisis. Benghiat lives inside that complexity and refuses to simplify it.RELATED LINKSRebecca BenghiatInner FoundationAspen Ideas HealthThe Jed 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.

Are You A Narcissist? The Truth Behind This Personality Disorder Narcissistic personality disorder develops through a combination of genetics and childhood development. While the term is often used casually to describe selfish behavior, a true diagnosis reflects a much more complicated disorder. Our expert addresses common misconceptions and explains the roots of this often-villainized condition. Guests: Wendy T. Behary, clinical psychotherapist, author, Disarming the Narcissist   The Return Of Measles: The Hidden Dangers Of This Preventable Disease Despite being declared eliminated in America more than two decades ago, measles has made a significant resurgence and is on track to break modern records. With no known treatment, patients must try to manage symptoms like high fever and potential respiratory or neurological complications that can be fatal for unvaccinated children. Our expert explains the dangers of the current uptick in cases and sets the record straight on vaccine misinformation. Guests: Dr. Ben Bradley, medical director, ARUP Laboratories, assistant professor, University of Utah School of Medicine   Medical Notes: Conquering Your Phobias, Managing Adult Asthma, And The New Era Of Injectable Bandages Scientists have discovered how to inject bandages into the body. How to manage your adult asthma. Are you addicted to food? Can you ever truly conquer a fear? Facebook: ingoodhealthpodX: @ ingoodhealthpodIG: @ingoodhealthpodYouTube: @ingoodhealthpodSpotify Apple Podcast In Good Health PodcastSubscribed to the newsletterFull ArchiveContact UsBecome an Affiliate Hosted by Simplecast, an AdsWizz company. See pcm.adswizz.com for information about our collection and use of personal data for advertising.

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At age 12, Dr. Chrystal Starbird stood by a pond after turning her mother in to the police. She watched tadpoles and fish move beneath the surface and found a strange kind of order. Science became her refuge long before it became her career. Years later, she built that refuge into a profession. She now serves as an Assistant Professor at the University of North Carolina, studies structural biology tied to cancer and Alzheimer's disease, and won Cell's first Rising Black Scientist Award in 2020. On paper, she fits the model of success. In practice, she had to fight for basic access at every stage.Conference travel required upfront cash she did not have. Networking favored pedigree over merit. Mentorship often depended on who knew your name in the room. Chrystal learned those rules, then chose to break them open for others.Oliver Bogler examines what Chrystal calls the advocacy tax. She has delivered over 70 invited talks. Nearly 40 percent focus on equity, mentorship, and policy. Academic reward systems do not count that labor toward tenure. She still does it.Through her leadership at the Life Science Editors Foundation, Chrystal helped build the JEDI program, which pairs underrepresented scientists with editors from journals like Cell and Nature. The program has supported over 100 awardees with more than 1,000 hours of mentorship. This episode exposes how biomedical science rewards output while ignoring the work required to make the system accessible. It also shows what happens when the people most affected refuse to step back.RELATED LINKSDr. Chrystal StarbirdStarbird LabLife Science Editors FoundationJEDI ProgramFEEDBACKLike 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.

How AI Could Strengthen the Doctor-Patient Relationship: Dr. Ashwin Vasan, Senior Fellow in Health Policy and Global Affairs at Yale School of Public Health and Affiliate Faculty at Yale Jackson School of Global Affairs “Ultimately, AI needs to be a tool that doesn't break down trust or empathy or clinical judgment, but rather helps enhance those things.” That aspirational perspective from Dr. Ashwin Vasan, Senior Fellow in Health Policy and Global Affairs at the Yale School of Public Health and Affiliate Faculty at the Yale Jackson School of Global Affairs, frames a nuanced conversation about one of healthcare's most consequential changes. Drawing on his experience as New York City Health Commissioner during the COVID-19 crisis and decades in global and public health, Dr. Vasan argues that the future of AI in medicine should be shaped less by the technology itself than by the values guiding its implementation, and that physicians need to play an active role in this process. “I think it behooves us to engage with this technology and steer it in the directions that we want as a society.” This timely discussion also offers Dr. Vasan's thoughtful perspectives on: How AI could allow physicians to focus on the human side of care; The risks of AI reinforcing inequities and driving costs higher; Public health as the marriage of science, society and trust. Join host Lindsey Smith for a valuable Raise the Line episode on how AI can be harnessed to benefit patients and provides alike.  Mentioned in this episode: Yale School of Public Health Yale Jackson School of Public Affairs 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