Podcasts about rare diseases

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]

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.

The following article of the Health industry is: 'The Critical Role of Multidisciplinary Care in Rare Diseases' by David López García, General Director Mexico, Recordati Rare Diseases. 

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.

Welcome to Episode 091 of the Beyond the Diagnosis Podcast. In this episode of Beyond the Diagnosis, Kathy sits down with hematologist Dr. Richard Godby from Mayo Clinic to explore the rapidly evolving role of artificial intelligence in rare disease and healthcare. Together, they unpack how AI is already helping patients and physicians navigate complex medical information, shorten diagnostic journeys, improve advocacy, and potentially accelerate research and treatment development. Dr. Godby also shares practical guidance on how patients and caregivers can begin using AI thoughtfully and responsibly while understanding its limitations, risks, and ethical considerations. Whether you're curious, skeptical, or already experimenting with AI yourself, this conversation offers a fascinating and hopeful look at how technology may reshape the future of rare disease care. 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: Watch Dr. Godby's presentation on AI for wAIHA Warriors hereFollow 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  

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!

Dramatic cuts to science research grants have particularly affected rare disease research. But some of the people most affected, including those with Nicolaides-Baraitser syndrome, are now organizing their own global research collaborations. The post Families organize amid government funding cuts into rare disease research appeared first on The World from PRX.

Dramatic cuts to science research grants have particularly affected rare disease research. But some of the people most affected, including those with Nicolaides-Baraitser syndrome, are now organizing their own global research collaborations. The post Families organize amid government funding cuts into rare disease research appeared first on The World from PRX.

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.

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

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.

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.

Links: Airdoctorpro.com code BIRTHHOUR for up to $300 off! Little Spoon - Go to littlespoon.com/TRYFORMULA to try Little Spoon Formula with their 2 can trial pack (Buy 1, Get 1 free - that's $30 for 2 cans). Know Your Options Online Childbirth Course - use code 100OFF for $100 off. Beyond the First Latch Course (comes free with KYO course)  Support The Birth Hour via Patreon! You can now gift memberships to Patreon here! 

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.