Podcasts about rare diseases

“They say it takes a village to raise a child. I really think it takes a village to treat a patient,” says Dr. Lanae Mullane, a naturopathic doctor and clinical strategist who has spent years at the forefront of bridging functional medicine, nutraceutical development, and digital health. In this episode of Raise the Line, host Lindsey Smith explores Dr. Mullane's view that naturopathic medicine complements conventional care by expanding -- not replacing -- the clinical toolkit, and that collaboration should be the future of medicine. “At the end of the day, collaboration and connection create the best outcomes for the people we serve,” she says. Their in-depth conversation also spans the shifting landscape of women's hormone health, including the perimenopausal transition and long-overdue calls for research equity. “We're not just smaller versions of men. We need to have dedicated research for us.” Tune in to learn about the importance of grounding health in sustainable habits, rethinking midlife care for women, and how to help patients take ownership of their health.Mentioned in this episode:Joi + BlokesSuppCoDr. Mullane's Clinical Website If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast

EPISODE DESCRIPTIONRebecca V. Nellis never meant to run a nonprofit. She just never left. Twenty years later, she's still helming Cancer and Careers after a Craigslist maternity-leave temp job turned into a lifelong mission.In this 60-minute doubleheader, we cover everything from theater nerdom and improv rules for surviving bureaucracy, to hanging up on Jon Bon Jovi, to navigating cancer while working—or working while surviving cancer. Same thing.Rebecca's path is part Second City, part Prague hostel, part Upper East Side grant writer, and somehow all of that makes perfect sense. She breaks down how theater kids become nonprofit lifers, how “sample sale feminism” helped shape a cancer rights org, and how you know when the work is finally worth staying for.Also: Cleavon Little. Tap Dance Kid. 42 countries. And one extremely awkward moment involving a room full of women's handbags and one very confused Matthew.If you've ever had to hide your diagnosis to keep a job—or wanted to burn the whole HR system down—this one's for you.RELATED LINKSCancer and CareersRebecca Nellis on LinkedIn2024 Cancer and Careers Research ReportWorking with Cancer Pledge (Publicis)CEW FoundationI'm Not Rappaport – Broadway InfoFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship opportunities, email podcast@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

“It's kind of a miracle, frankly,” says Dr. John Buse, a distinguished professor at the University of North Carolina School of Medicine, referring to the effectiveness of GLP-1 receptor agonist medications such as Ozempic in treating type 2 diabetes, promoting significant weight loss, and reducing cardiovascular risk. As a physician scientist for the last three decades at UNC, Dr. Buse has played a key role in ushering in this new era of diabetes care, leading or participating in over 200 clinical studies on this class of drugs and others. “Nothing has impacted diabetes care like the GLP-1 receptor agonists. I have lots of patients whose diabetes was never well controlled who have seen all their metabolic problems essentially resolved.”  In this fascinating conversation with Raise the Line host Lindsey Smith, Dr. Buse not only explains how these drugs work, but also provides a clear-eyed look at side effects, and addresses issues of cost and access. Join us for the remarkable story – including the role played by Gila monsters -- behind one of the biggest developments in medicine over the past several years from a world renowned diabetes researcher and clinician. Mentioned in this episode:UNC 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

In this episode, we speak with Associate Professor Leszek Lisowski, Head of the Translational Vectorology Unit at the Children's Medical Research Institute (CMRI), about the cutting-edge world of gene therapy. He explains how viral vectors are engineered to deliver life-saving treatments for rare genetic diseases - many of which are so uncommon, they're only known by the name of the affected gene. Despite being often overlooked, genetic diseases impact 10% of adults and 30% of children in hospitals. Leszek sheds light on the challenges of diagnosis, the promise of emerging genetic testing, and how his work is paving the way for more accurate, effective therapies. Linkedin: Children's Medical Research Institute, Leszek Lisowski Facebook: @jeansforgenes Instagram: @jeansforgenesau

“It wasn't a profession, it was a way of life,” observes internationally respected psychiatrist Dr. Nasser Loza, reflecting on a century-long family legacy in mental health care that began when his grandfather founded The Behman Hospital in Cairo. In this candid Raise the Line conversation with host Michael Carrese, Dr. Loza traces the transformation of psychiatry he's witnessed in his long career as increases in classifications, payment bureaucracy, reliance on pharmaceuticals, and technological disruption have each left their mark. The cumulative costs associated with these changes have, he laments, pushed care out of reach for many and hindered the human connection that is key to the discipline. He describes his prescription for countering these trends as a focus on effective and modest aims. “Rather than saying, come and see me in therapy for five years and I will make a better person out of you, I think focusing on symptom-targeted help is going to be what is needed.”  In this wide-ranging interview, you'll also learn about progress on advancing the rights of mental health patients and lowering stigmas, how to manage the rise of online therapy and use of AI chatbots, and the importance of empathy and transparency in mental health counseling. Don't miss this valuable perspective on a critically important dimension of healthcare that's informed by decades of experience as a clinician, government official and global advocate. Mentioned in this episode:The Behman HospitalMaadi Psychology 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

Kerry Mello-Parker, Director of Rare Diseases and REMS programs at Shields Health Solutions, addresses the complexities and challenges faced by patients with rare diseases including diagnostic delays and limited access to medication. Using an integrated specialty pharmacy model, Shields works with pharmacists to have direct access to the EHR, enabling better patient monitoring, shorter time to initiate medication, tracking outcomes, and providing patients with a direct line of communication to their care team. Pharmacists treating rare diseases are also supported with specialized information on medication administration, side effects and complex billing.  Kerry explains, "Shields Health Solutions is a specialty pharmacy accelerator. We partner with over 80 health systems across the United States. We support them in establishing and growing a specialty pharmacy. We help them to access critical medications. Some of them are not available at traditional pharmacies, and we support them in managing clinical quality care programs for their patients." "I'd like to step back a little and talk about what a rare disease is and how we define it. Currently, it is defined as a condition that affects fewer than 200,000 people. However, over 7,000 rare diseases exist. So when we do the math, we come to see that they are not so rare. And some estimates show that up to 10% of the US population may actually have a rare disease. And what I've seen is that there are really three main complexities of treating rare diseases and challenges that patients may face. One of them is that there is a lack of available treatment options when compared with more common diseases. So, for example, only about 10% of rare diseases have an FDA-approved treatment option, but that is changing. We have the Orphan Drug Act, which has actually changed the landscape. It has incentivized and facilitated the development of medications to treat rare diseases." #ShieldsHealthSolutions #IntegratedCareModel #SpecialtyPharmacy #RareDiseases #MedicationAdherence shieldshealthsolutions.com Listen to the podcast here

Kerry Mello-Parker, Director of Rare Diseases and REMS programs at Shields Health Solutions, addresses the complexities and challenges faced by patients with rare diseases including diagnostic delays and limited access to medication. Using an integrated specialty pharmacy model, Shields works with pharmacists to have direct access to the EHR, enabling better patient monitoring, shorter time to initiate medication, tracking outcomes, and providing patients with a direct line of communication to their care team. Pharmacists treating rare diseases are also supported with specialized information on medication administration, side effects and complex billing.  Kerry explains, "Shields Health Solutions is a specialty pharmacy accelerator. We partner with over 80 health systems across the United States. We support them in establishing and growing a specialty pharmacy. We help them to access critical medications. Some of them are not available at traditional pharmacies, and we support them in managing clinical quality care programs for their patients." "I'd like to step back a little and talk about what a rare disease is and how we define it. Currently, it is defined as a condition that affects fewer than 200,000 people. However, over 7,000 rare diseases exist. So when we do the math, we come to see that they are not so rare. And some estimates show that up to 10% of the US population may actually have a rare disease. And what I've seen is that there are really three main complexities of treating rare diseases and challenges that patients may face. One of them is that there is a lack of available treatment options when compared with more common diseases. So, for example, only about 10% of rare diseases have an FDA-approved treatment option, but that is changing. We have the Orphan Drug Act, which has actually changed the landscape. It has incentivized and facilitated the development of medications to treat rare diseases." #ShieldsHealthSolutions #IntegratedCareModel #SpecialtyPharmacy #RareDiseases #MedicationAdherence shieldshealthsolutions.com Download the transcript here

The blood-brain barrier (BBB), formed by brain endothelial cells, pericytes, and astrocytes, is organized into a neurovascular unit that regulates the exchange of proteins between blood circulation and brain parenchyma. Human stem-cell-based models using brain endothelial cells are a powerful tool to investigate how disease-related conditions might affect the blood-brain barrier integrity. However, the cell type composition is critical to faithfully model transcytosis across the blood-brain barrier. Our guests today developed a blood-brain model using induced pluripotent stem cells (iPSCs)-derived endothelial cells with brain-specific identity. Using this model they were able to investigate how disease risk factors affect intracellular transport and reveal a new role for ApoE4 in the regulation of iron metabolism at the blood-brain barrier. GuestsRoberto Villaseñor, Principal Scientist and Laboratory Head of the Brain Delivery, Neuroscience and Rare Diseases at the Roche Innovation Center in Basel, Switzerland Martina Pigoni, Senior Discovery Scientist at Roche Innovation Center in Basel, Switzerland HostJanet Rossant, Editor-in-Chief, Stem Cell Reports and The Gairdner FoundationSupporting ContentApoE4 disrupts intracellular trafficking and iron homeostasis in a reproducible iPSC-based model of human brain endothelial cells, Stem Cell ReportsAbout Stem Cell ReportsStem Cell Reports is the open access, peer-reviewed journal of the International Society for Stem Cell Research (ISSCR) for communicating basic discoveries in stem cell research, in addition to translational and clinical studies. Stem Cell Reports focuses on original research with conceptual or practical advances that are of broad interest to stem cell biologists and clinicians.X: @StemCellReportsAbout ISSCRWith nearly 5,000 members from more than 80 countries, the International Society for Stem Cell Research (@ISSCR) is the preeminent global, cross-disciplinary, science-based organization dedicated to stem cell research and its translation to the clinic. The ISSCR mission is to promote excellence in stem cell science and applications to human health.ISSCR StaffKeith Alm, Chief Executive OfficerYvonne Fisher, Managing Editor, Stem Cell ReportsKym Kilbourne, Director of Media and Strategic CommunicationsMegan Koch, Senior Marketing ManagerJack Mosher, Scientific DirectorHunter Reed, Senior Marketing Coordinator

In this episode of BioTalk Unzipped, Gregory Austin and Dr. Chad Briscoe sit down with Dr. Binodh DeSilva, Senior Vice President of Bioanalysis at Ultragenyx Pharmaceutical, to explore the science and soul behind rare-disease drug development.From her early days studying electrochemistry at the University of Kansas to leading cutting-edge bioanalytical programs at Ultragenyx, Dr. DeSilva shares how curiosity and community shaped her four-decade career. She discusses the profound responsibility of working with limited, often irreplaceable patient samples with care.A special thanks to AAPS (https://www.aaps.org/) for their help and support of this episode.The conversation dives into:Balancing rigor and agility in small-population clinical studiesLeveraging entrepreneurial mindsets from biotech within big pharma frameworksThe promise of dried blood spots (DBS) and patient-centric samplingMentorship, curiosity, and the future of scientific leadershipHer return to Sri Lanka with KU faculty to recruit the next generation of scientistsThroughout the discussion, DeSilva underscores a recurring theme: science thrives when curiosity meets compassion. This episode is a masterclass in both.Guest LinksDr. Binodh DeSilvahttps://www.linkedin.com/in/binodh-desilva/ Ultragenyx Pharmaceuticals - https://www.ultragenyx.com/ HostsDr. Chad Briscoehttps://www.linkedin.com/in/chadbriscoe/ Celerion - https://www.celerion.com/ Gregory Austinhttps://www.linkedin.com/in/gregoryaustin1/ Celerion - https://www.celerion.com/ Keywords: BioTalk Unzipped, Binodh DeSilva, Ultragenyx, rare disease research, bioanalysis, dynamic drug development, dried blood spots, DBS sampling, biologics, AAPS NBC 2025, Gregory Austin, Chad Briscoe, Celerion, scientific leadership, mentorship in science, biopharma innovation, curiosity in research, Sri Lanka scientists, analytical chemistry, pharma innovation, drug development ethics.

Rare diseases affect only a small number of Canadians, but a lack of adequate testing and treatment reveals some of the key weaknesses in our health care system.These illnesses – which affect about one in 12 Canadians – raise hard questions about health care costs, access, and fairness, and test how well Canada's fragmented health governance systems can adapt to new challenges.For a closer look at Canadian rare disease policy, Macdonald-Laurier Institute Senior Fellow John Adams joins Inside Policy Talks. Adams is a management consultant and one of Canada's leading advocates for patients with rare diseases. Adams is the co-founder of CanPKU and chair of the Best Medicines Coalition, which represents millions of Canadian patients. His personal journey as a parent and caregiver for his son, who has a rare disease, has left Adams with unique insights on drug access, rare disease policy, and health care reform.On the podcast, he tells host Shawn Whatley, a physician and senior fellow at MLI, that one of the key steps Canada could take to better serve patients with rare diseases is passing an orphan drug law like the one that exists in the United States. These laws incentivize the development of new drugs for rare diseases that are otherwise unprofitable due to small patient populations.

In this week's episode of the Xtalks Life Science Podcast, host Ayesha Rashid, Senior Life Science Journalist at Xtalks.com, spoke with R. Nolan Townsend, MBA, CEO of Lexeo Therapeutics, a company developing gene therapies for cardiovascular diseases as well as CNS disorders including Alzheimer's disease. Lexeo recently announced a partnership to advance cardiac RNA therapeutics as well as $80 million in equity financing. Mr. Townsend has been CEO of Lexeo Therapeutics since 2020. He previously held senior leadership roles at Pfizer, including President of Rare Disease for both North America and International markets, and began his career in healthcare investment banking at Lehman Brothers. He currently also serves on several boards, including Arbor Biotechnologies, the Biotechnology Innovation Organization (BIO) and the Martha's Vineyard Museum. He is also a member of the New York City Economic Development Corporation's Life Sciences Advisory Council. Mr. Townsend received his MBA from the Harvard Business School and his Bachelor of Arts in Economics from the University of Pennsylvania. Tune in to hear how Lexeo is shaping the future of genetic medicines under Mr. Townsend's leadership. For more life science and medical device content, visit the Xtalks Vitals homepage. https://xtalks.com/vitals/ Follow Us on Social Media Twitter: https://twitter.com/Xtalks Instagram: https://www.instagram.com/xtalks/ Facebook: https://www.facebook.com/Xtalks.Webinars/ LinkedIn: https://www.linkedin.com/company/xtalks-webconferences YouTube: https://www.youtube.com/c/XtalksWebinars/featured

Sally Wolf is back in the studio and this time we left cancer at the door. She turned 50, brought a 1993 Newsday valedictorian article as a prop, and sat down with me for a half hour of pure Gen X therapy. We dug into VHS tracking, Red Dawn paranoia, Michael J. Fox, Bette Midler, and how growing up with no helmets and playgrounds built over concrete somehow didn't kill us.We laughed about being Jewish kids in the suburbs, the crushes we had on thirty-year-olds playing teenagers, and what it means to hit 50 with your humor intact. This episode is part nostalgia trip, part roast of our own generation, and part meditation on the privilege of being alive long enough to look back at it all. If you ever watched Different Strokes “very special episodes” or had a Family Ties lunchbox, this one's for you.RELATED LINKSSally Wolf Official WebsiteSally Wolf on LinkedInSally Wolf on InstagramCosmopolitan Essay: “What It's Like to Have the ‘Good' Cancer”Oprah Daily: “Five Things I Wish Everyone Understood About My Metastatic Breast Cancer Diagnosis”Allure Breast Cancer Photo ShootTom Wilson's “Stop Asking Me the Question” SongFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

“When I was in medical school, no one had even heard of mitochondrial disease. Today, every student who graduates here knows what it is and has seen a patient with it,” says Dr. Mary Kay Koenig, director of the Center for the Treatment of Pediatric Neurodegenerative Disease at UTHealth Houston McGovern Medical School. That remarkable change in awareness has been accompanied by advances in genetic sequencing, the development of clinical guidelines, and the emergence of potential treatments in some forms of mitochondrial disease. In fact, Dr. Koenig's multidisciplinary team at UTHealth's Mitochondrial Center of Excellence has been a key player in clinical trials that may yield the first FDA-approved treatments for it. As you'll learn in this Year of the Zebra conversation with host Michael Carrese, her work in neurodegenerative diseases also includes tuberous sclerosis, where advanced therapies have replaced the need for repeated surgeries, and Leigh Syndrome, which has seen improvements in diagnoses and supportive therapies leading to better quality of life for patients.  Tune in as Dr. Koenig reflects on an era of progress in the space, the rewards of balancing research, teaching and patient care, and the need for more clinicians to center listening, humility and honesty in their approach to caring for rare disease patients and their  families.Mentioned in this episode:Mitochondrial Center of ExcellenceCenter for the Treatment of Pediatric Neurodegenerative Disease 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 travel to the offices of Pharming Group in Leiden, the Netherlands, to chat with the newcomer CEO Fabrice Chouraqui.Fabrice discusses the fascinating history of Pharming, with its first commercial drug RUCONEST produced in the milk of transgenic rabbits. He also talks about the growth of Pharming from a protein therapy-focused biotech into a European multi-asset heavyweight, with a market cap of at least €800 million. ⭐️ ABOUT THE SPEAKERFabrice Chouraqui has been the CEO of Pharming Group since March 2024. Prior to this, he was a CEO-Partner at the US biotech venture capital firm Flagship Pioneering as well as CEO of the Flagship portfolio company Cellarity.He also served at Novartis and Bristol-Myers-Squibb for 10 years each, with his career beginning in R&D at pharmaceutical companies that were predecessors to today's Sanofi.

In this heartfelt episode of It Happened To Me, hosts Cathy Gildenhorn and Beth Glassman sit down with Nikki McIntosh, a rare disease advocate, writer, and mother whose life changed when her son Miles was diagnosed with Spinal Muscular Atrophy (SMA). Nikki McIntosh is the founder of Rare Mamas®, a resource, and community dedicated to supporting and empowering mothers of children with rare diseases. She is the author of Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease and host of the Rare Mamas Rising podcast. Her mission stems from the profound need she felt after her son was diagnosed with a rare disease, fueling her with a passion and purpose to offer a lifeline of hope and connection to other rare moms. Nikki is a sought-after speaker and a trusted voice in the rare disease space. From national conferences and patient advocacy group gatherings to biotech industry meetings and media interviews, Nikki passionately advocates for the rare disease community. She lives in Southern California with her husband, Tony, and their sons, Mason and Miles. In 2013, at just eighteen months old, Nikki's youngest son, Miles, was diagnosed with spinal muscular atrophy (SMA)—a rare, degenerative neuromuscular disease. Told there was no treatment, no cure, and that regression was inevitable, Nikki refused to accept a future that offered only decline. She walked away from her career and poured herself into caregiving, advocacy, and an unrelenting search for answers. That search led her and her husband to a clinical trial for a drug that showed promise. Miles was enrolled. The treatment was effective. That drug—now known as Spinraza—went on to become the first-ever FDA-approved treatment for SMA. From that breakthrough moment, Nikki immersed herself in the world of rare disease advocacy. She began writing down everything she wished she had known at the beginning of their journey. With a deep desire to empower other rare moms, she wrote the book Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease. Nikki continues to walk this road alongside her son, and alongside the millions of mothers who are parenting children with rare diseases. She has a deep passion for providing strategies, strength, support, and sisterhood to her fellow rare moms. In This Episode, You'll Learn: What Spinal Muscular Atrophy (SMA) is and how it affects children and families Nikki's emotional journey from diagnosis to advocacy How her son's participation in a clinical trial offered hope and insight The inspiration behind Rare Mamas and its empowering message Strategies for parents navigating rare disease diagnoses and complex healthcare systems The importance of building community and finding your voice as a caregiver How to balance hope for new treatments with the daily realities of care Resources:  Nikki's website that houses all her projects, RareMamas.com  Buy Nikki's book: Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Listen to Nikki's podcast: Rare Mamas Rising Learn more about SMA via MedlinePlus Patient Empowerment Program, another podcast in our science podcast network Gene Pool Media, is hosted by one of the pharmacists that helped develop Spinraza, the first FDA approved treatment for SMA. Miles was part of the clinical trial.  Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

In this episode of Radio Maine, Dr. Lisa Belisle welcomes back Dr. Chuck Radis—rheumatologist, author, and storyteller—to discuss his newest book, Mystery in the Room (RHEUM): A Physician's Journey Treating Patients with Rare Diseases. Drawing inspiration from Oliver Sacks and John McPhee, Dr. Radis blends medical insight with personal reflection, exploring the art of diagnosis, the humanity behind clinical encounters, and the balance between science and empathy. Together, they discuss how technology, including AI, might paradoxically help physicians reconnect with patients, why listening remains medicine's most powerful diagnostic tool, and how life on Peaks Island continues to shape Dr. Radis's perspective as both a doctor and a writer. Radio Maine is proudly sponsored by the Portland Art Gallery, where we explore and celebrate creativity and the human spirit.

Dr. Nikki Maphis didn't just lose a grant. She lost a lifeline. An early-career Alzheimer's researcher driven by her grandmother's diagnosis, Nikki poured years into her work—only to watch it vanish when the NIH's MOSAIC program got axed overnight. Her application wasn't rejected. It was deleted. No feedback. No score. Just gone.In this episode, Oliver Bogler pulls back the curtain on what happens when politics and science collide and promising scientists get crushed in the crossfire. Nikki shares how she's fighting to stay in the field, teaching the next generation, and rewriting her grant for a world where even the word “diversity” can get you blacklisted. The conversation is raw, human, and maddening—a reminder that the real “war on science” doesn't happen in labs. It happens in inboxes.RELATED LINKS:• Dr. Nikki Maphis LinkedIn page• Dr. Nikki Maphis' page at the University of New Mexico• Vanguard News Group coverage• Nature article• PNAS: Contribution of NIH funding to new drug approvals 2010–2016FEEDBACK:Like this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, visit outofpatients.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

“Giving learners options gives them a better learning experience. It's more holistic and more comprehensive,” says Sean Moloney, CEO and founder of EmbodyXR, an extended reality platform focused on the use of immersive technologies in medical education. In this eye-opening Raise the Line conversation, Moloney explains how AI-powered extended reality (XR) --which integrates augmented, virtual, and simulation-based environments -- allows learners to interact with patients, explore multiple diagnostic choices, and experience varied outcomes based on their decisions. The result, he notes, is not only stronger engagement in learning, but a measurable improvement in understanding. Despite these gains, Moloney is quick to point out that he sees these technologies as complements to traditional training, not substitutes for it. “We'll never replace in-person teaching,” he says, “but we can make learners even better.” Beyond training future clinicians, the EmbodyXR platform is also offering new modes of patient and caregiver education, such as augmented reality guidance for using medical devices at home. Join host Lindsey Smith as she explores how EmbodyXR achieves and maintains clinical accuracy, the connectivity it offers between headsets, personal computers and mobile devices, and other capabilities that are shaping the future of how healthcare professionals and patients will learn. Mentioned in this episode:EmbodyXR 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

Partnerships between biopharmaceutical companies and patient organizations can play a critical role in improving access and outcomes for people with rare diseases. However, to do so, companies must listen to patient communities and address the unique challenges they face. We spoke to Laura Russo, U.S. patient engagement lead for Pfizer, discusses how the company's patient-facing teams work to bridge health systems and patient communities, how they help people with rare diseases navigate the healthcare system, and how they improve access through customized approaches ranging from providing transportation to care for people with sickle cell disease to providing education and support to community health workers.

Carla Tardiff has spent 17 years as the CEO of Family Reach, a nonprofit that shouldn't have to exist but absolutely does—because in America, cancer comes with a price tag your insurance doesn't cover.We talk about shame, fear, burnout, Wegmans, Syracuse, celebrity telethons, and the godforsaken reality of choosing between food and treatment. Carla's a lifer in this fight, holding the line between humanity and bureaucracy, between data and decency. She's also sharp as hell, deeply funny, and more purpose-driven than half of Congress on a good day.This episode is about the work no one wants to do, the stuff no one wants to say, and why staying angry might be the only way to stay sane.Come for the laughs. Stay for the rage. And find out why Family Reach is the only adult in the room.RELATED LINKSFamily ReachFinancial Resource CenterCarla on LinkedInMorgridge Foundation ProfileAuthority Magazine InterviewSyracuse University FeatureFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Why has America struggled so much to effectively manage the opioid use crisis? One of the answers, as you'll learn in this eye-opening episode of Raise the Line, is rooted in laws and attitudes from the early 20th century that removed addiction from the realm of medicine and defined it as a moral failing.  “The federal Harrison Act of 1914 forbade any physician from prescribing opioids to people with addiction, so it became more the purview of law enforcement or behavioral health or religion,” says Dr. Melody Glenn, who regularly confronts the consequences of this history during shifts in the emergency department at Banner-University Medical Center in Tucson, Arizona. And as Glenn explains to host Caleb Furnas, the resulting stigma associated with addiction has extended to the treatments for it as well, especially methadone, despite its effectiveness. Drawing on her dual expertise in emergency and addiction medicine, Glenn dispels misconceptions that medication-assisted treatment merely replaces one addiction with another, and emphasizes that harm reduction is critical to saving lives. Her desire to break prevailing stigmas led her to discover the story of Dr. Marie Nyswander, who pioneered methadone maintenance therapy in the 1960s and is featured in Dr. Glenn's new book, Mother of Methadone: A Doctor's Quest, a Forgotten History, and a Modern-Day Crisis. You'll leave this instructive interview understanding the roots of our flawed approach to addiction treatment, meeting an overlooked pioneer in the field, and admiring a devoted and compassionate physician who is following in her footsteps.  Mentioned in this episode:Banner-University Medical CenterMother of Methadone book 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

Five years ago, we first spoke with Nikki McIntosh. In this episode, Nikki returns to share her journey as a mother of a child with spinal muscular atrophy (SMA) and the profound impact of clinical trials on her son's life. Miles is growing up and has started playing wheelchair tennis. Nikki shares the joy this brings to her. Nikki also discusses the emotional roller coaster of navigating rare diseases, the importance of community support, and her new book, 'Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease.' The conversation and the book highlight resilience, advocacy, and the need for actionable strategies for parents facing similar challenges.https://raremamas.com

“We don't view a person with chronic pain as someone who has a chronic illness and the effect of that is we can't follow patients continuously over prolonged periods of time,” says Dr. Jacob Hascalovici, a neurologist and pain specialist based in New York City.  In co-founding Bliss Health, Dr. Jacob, as he is known, has set out to create a continuous care model for chronic pain treatment that matches the approach taken for patients with diabetes or high blood pressure. The Bliss Health formula includes an initial meeting with a physician that produces a care plan; remote therapeutic monitoring on an ongoing basis; and a monthly meeting with a nurse to review data and determine next steps, including additional appointments with physicians as needed.  All of this occurs via a digital platform which provides a welcome option for patients with mobility issues and can fill gaps in access to specialists, especially in rural areas. Dr. Jacob is also hoping to make chronic pain patents feel respected, which is not always the case in their encounters with the healthcare system. “Because pain is not something that can be seen or measured, oftentimes patients feel marginalized, dismissed and disempowered by providers.” Join Raise the Line host Lindsey Smith for a valuable conversation that also touches on policy changes that could strengthen telemedicine, and has details on the first non-opioid based pain medication to receive FDA approval in over 20 years.Mentioned in this episode:Bliss 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

Hunter syndrome is caused by the body's inability to produce a critical enzyme needed to break down cellular waste. The condition can cause damage to organs throughout the body as well as to the brain. A new generation of therapies in development, including a gene therapy currently under review by the U.S. Food and Drug Administration, that has the potential to address the neurological symptoms of the disease. Still, patient advocates have been frustrated by regulatory delays and are seeking to push the FDA and Congress to take action. We spoke with Kristin McKay, CEO of the Hunter syndrome patient advocacy organization Project Alive, about the need for new therapies, the importance of early detection, and the patient community's concerns with regulatory delays in approving needed treatments. An editor's note: Since recording this podcast, the FDA granted accelerated approval to Stealth Biotherapeutics' Forzinity for Barth syndrome, which is referenced in the discussion.

Jennifer J. Brown is a scientist, a writer, and a mother who never got the luxury of separating those roles. Her memoir When the Baby Is Not OK: Hopes & Genes is a punch to the gut of polite society and a medical system that expects parents to smile through trauma. She wrote it because she had to. Because the people who gave her the diagnosis didn't give her the truth. Because a Harvard-educated geneticist with two daughters born with PKU still couldn't get a straight answer from the very system she trained in.We sat down in the studio to talk about the unbearable loneliness of rare disease parenting, the disconnect between medical knowledge and human connection, and what it means to weaponize science against silence. She talks about bias in the NICU, the failure of healthcare communication, and why “resilience” is a lazy word. Her daughters are grown now. One's a playwright. One's an artist. And Jennifer is still raising hell.This is a conversation about control, trauma, survival, and rewriting the script when the world hands you someone else's lines.Bring tissues. Then bring receipts.RELATED LINKS• When the Baby Is Not OK (Book)• Jennifer's Website• Jennifer on LinkedInFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, visit outofpatients.show.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

In recent months, public health advocates in the United States have raised concerns about proposed changes to vaccine policy, cuts to food assistance programs, rollbacks of environmental protections and reductions in public health staffing. Chief among them has been Dr. Georges Benjamin who, as executive director of the American Public Health Association (APHA) since 2002, has led national efforts to create a healthier America. Raise the Line host Lindsey Smith recently sat down with Dr. Benjamin to understand more about the current state of public health and explore the path forward, and learned that a top priority for APHA is battling the misinformation that Dr. Benjamin believes is fueling support for many of these changes. “The challenge we have right now is that as a society, we've gone into our little corners and live in our own ecosystems. More people are getting their information from a single source and they're not validating that information to make sure that it's true.” Tune into this thoughtful and timely conversation to hear Dr. Benjamin's advice for curbing the spread of misinformation, how APHA is trying to help people understand the value of public health initiatives, and what the U.S. can learn from other countries about improving public health. Mentioned in this episode:American Public Health Association 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 Dalila Sabaredzovic's sons were diagnosed with an ultra-rare genetic condition, she faced more questions than answers. But through resilience, advocacy, and the power of collaboration, her family's story has become a beacon of hope in rare disease research. In this deeply moving episode of Sounds of Science, Dalila shares her journey from despair to discovery—and how a global village of scientists came together to pursue a personalized treatment that could change everything.Show NotesTaking a Customized and Collaborative Approach to Therapeutic DevelopmentDrug Discovery Services | Charles RiverASO Screening Services | Charles RiverRare Disease Research for Drug Development | Charles RiverTwo in Eight Billion | Eureka blog

How can healthcare leaders and marketers build trust and meaningful connections with rare disease patients and caregivers? In this week's episode, I sit down with Sugata Biswas, Co-Founder & Managing Principal, and Emily Anderson, Associate Director of Patient-Centered Research at Cadence Communications & Research, to explore their human-centered approach to rare disease research and patient engagement. This episode is packed with insights on patient-first research, authentic social media strategies, and lessons that can be applied across rare and mainstream healthcare markets.

Sarah Aswegan, a seasoned biopharma leader and strategic advisor for global rare disease solutions, shares her journey from sales in pharma to her consulting work today. She discusses her experience in transitioning biopharma companies from clinical to commercial success, the evolution of medtech in diagnosing and managing rare diseases, and the collaborative efforts required to bring innovative treatments to market. She also shares insights on current trends in gene therapy, the dynamics of funding, and the importance of data in advancing care for rare disease patients. Guest links: www.saraaswegan.com  Charity supported:  Interested in being a guest on the show or have feedback to share? Email us at theleadingdifference@velentium.com.  PRODUCTION CREDITS Host & Editor: Lindsey Dinneen Producer: Velentium Medical   EPISODE TRANSCRIPT Episode 065 - Sara Aswegan [00:00:00] Lindsey Dinneen: Hi, I'm Lindsey and I'm talking with MedTech industry leaders on how they change lives for a better world. [00:00:09] Diane Bouis: The inventions and technologies are fascinating and so are the people who work with them. [00:00:15] Frank Jaskulke: There was a period of time where I realized, fundamentally, my job was to go hang out with really smart people that are saving lives and then do work that would help them save more lives. [00:00:28] Diane Bouis: I got into the business to save lives and it is incredibly motivating to work with people who are in that same business, saving or improving lives. [00:00:38] Duane Mancini: What better industry than where I get to wake up every day and just save people's lives. [00:00:42] Lindsey Dinneen: These are extraordinary people doing extraordinary work, and this is The Leading Difference. Hello and welcome back to another episode of The Leading Difference podcast. I'm your host Lindsey, and today I'm delighted to welcome to the show, Sarah Aswegan. Sarah is a seasoned biopharma leader helping organizations transition and grow from clinical to commercial success. She prides herself on the success of leading multiple global cross-functional teams and contributing to the success of the franchise areas she oversaw and served. Until recently, she's applied these experiences while serving in a consultancy capacity for many small to midsize biotechs entering or expanding in rare disease. She has also successfully helped organizations to start and scale adjacent spaces to biopharma, and most recently has been serving as a Global Head of Commercial Assets, Brands, and Care Solutions, and has led transformational change at UCP, having been part of the design and scale of the business unit for rare disease. She maintains a strong network among clinicians, access, bioethicists, and patient advocacy globally. Well, thank you so much for joining us today. I'm so excited to speak with you. [00:01:52] Sara Aswegan: Thanks, Lindsey. It's nice to be here. [00:01:54] Lindsey Dinneen: Wonderful. Well, I'd love, if you wouldn't mind, sharing a little bit about yourself and your background and what led you to medtech. [00:02:02] Sara Aswegan: Yeah, thanks Lindsey. You know, I, I started my career ages ago in the pharma side of things, and as my career has grown, so has the exposure across pharmaceuticals, into biotech and including aspects of medtech. As we look at some of the areas I've spent the last 18 years in rare disease, the medtech component is coming in largely around if we think about the diagnosis component and then the management of the different conditions over the lifespan of a child or adult affected by a rare condition. You can see things really evolving. I started my career on the sales side of things. My education is in business and communication, so anyone can learn the science if you have good mentors and people to help you along the way. And I was really, really fortunate to work amongst a team of amazing individuals, both in the US and then now having lived away for about 15 years outside of the US that have helped open my eyes to what can be possible and the differences by markets. And as I mentioned, I spent the last 18 years in the rare disease space really helping companies of all sizes build out and scale their teams, bringing in new assets and bringing solutions to the field of rare disease. And it's something I'm very passionate about. [00:03:06] Lindsey Dinneen: Yeah. Well, thank you for sharing a little bit about that. So I'm curious, that's a very specific niche and I would love to understand how you arrived at that and how you realized, "Oh, this is what I'm meant to be doing." [00:03:19] Sara Aswegan: Yeah. So I made a move geographically and company-wise to a small firm at the time. We were just a very small team. We called it the bootstrapping team at Shire Human Genetic Therapies, and I moved from the Chicago area to Boston, and that was my first really exposure to rare diseases. And, it's a completely different field and it continues to evolve even to this day. But the closeness and proximity you have to patients and their families and those with unmet need. And I have, you know, a couple of close friends as well as a family member that's been affected by a rare disease. So as you're seeking care and support for them, it's not always about the medications. It's about that total person and thinking really holistically about the individual and their care teams that are impacted by those conditions. So the external community we were serving really drove me and introduced me to something that I've stayed with, and it brings great passion to try to find ways to support individuals in our western society, but also looking at low middle income countries and helping facilitate diagnosis to treatment to, again, that whole supportive care and largely from the internal teams within the organizations I've worked with has just is been tremendously rewarding and also equally challenging. It's beautiful to see progress. I mentioned diagnosis and. One of the areas I worked in initially was in the lysosomal storage disease area. And it's the age-old question on diagnosis. Do you facilitate newborn screening, for example, so when your child is born, you have a heel prick done and you can do a series of tests depending on the state you live in, and in some countries in Europe it's also provided. But if there's not a therapy, is it okay to do that type of diagnosis support. And so that challenge, you know, in seeing the policy evolve on a state by state basis. When I began in the rare disease space and MPS Type Two Hunter Syndrome, it's a condition that affects mostly boys and a very small part of our population. We knew we could do newborn screening and there was a therapy available, but it wasn't only realized until a few years ago to introduce newborn screening to help those families at the point of birth to know if their child was affected, and therefore start a different trajectory on how they planned for care for them and plan for if there was a medication or other supportive tools and resources available for them. So it's been extremely dynamic to see how things have evolved. And then now as you see medical and pharma medical technology advance as well into gene therapies. You're seeing news about gene therapy and it's a one time treatment and then the individual hopefully will not have be re redos in their lifetime. Along with that come challenges on that diagnosis piece to make sure they're eligible for the gene therapy. So again, through the device and technology sector, it plays a key role. In addition to the supportive care that goes on for some of these really severe conditions, people have some pretty dynamic needs and it's great to see how things are progressing, but it's still as equally as frustrating, whether you're on the manufacturer side or the family side, to see things be kind of slow sometimes. [00:06:15] Lindsey Dinneen: Yeah, of course. And you're dealing with a specific situation where many times-- please correct me if I'm wrong-- but it seems like many times there's these kinds of studies and conditions are not funded very well in terms of finding solutions to the problem. So how is that something that you, well, first of all, of course we're in a very interesting season of life right now. So how are you seeing funding evolve over the years for these different diseases that are a little bit more rare, and what can we all do in terms of even just awareness and understanding? [00:06:51] Sara Aswegan: Yeah, so that's a huge question. We could probably have about five conversations on this just to scratch the surface, Lindsey. I think if I reflect on the question on what we've seen around funding, I mean there are some wonderful, supportive grants available for the brilliant scientists we have around the world that have a curiosity. So making sure we can facilitate that ongoing academic environment to explore and test the hypothesis. And one of the things that you see coming along, and it's not really around-- I won't think about funding as just pure financial-- but it's the funding of the smarts that go around the table. You see a lot more collaboration amongst academia, industry governments coming together to help build and scale so that there's an awareness and understanding of a condition. I mean, a pediatrician could go through their entire career and never see a boy with Hunter Syndrome. It's just that rare. At the same time, and on the converse of that, if you're working in an industry where you do have access to more funds, the introduction of AI and looking at how we look at drug targeting, drug target selection, genetics and precision medicine have come along quite leaps and bounds in the last several years, but we're still not quite there. But you're seeing advancements with the different cell and gene therapies, having that precision medicine as an option. It's coming forward. The challenge is the size of studies are normally very small because the population is small. So thinking about patient recruitment, how can we help facilitate better identification of individuals that may be out there and not have received diagnosis because of the rarity of the condition? So looking at technology and advancement of integrated electronic health records up to and including, how do we look at the trial designs? And how do manufacturers, academics, industry, and agencies work together to think a little differently around even designing clinical endpoints for the studies that really are meaningful, that will make a difference. And how do you balance that, right? Correct risk benefit conversation, in the spirit of doing no harm. But if there's one chance and there's something available, how do you do that? And coming all the way downstream. If you think about where the organizations have advanced their thinking, their approach, and put funds behind, it's also that ongoing care of the individuals. If you look at the upstream, the types of tests that are available. It could be cancer, it could be the area I am so passionate about in genetic disorders, but it can also be thinking about the workflows that come into play in helping facilitate consistency of care across state borders, across country borders. It's a key piece that are really advancing in real time, but we're still trying to overcome the hurdles that are real. And that's things around data privacy. How do we navigate that in a really meaningful way with the right ethics and integrity. If we think about the regulators, this isn't a huge anti-infective or cardiac study that's ongoing, that there are gonna be tens of thousands of people. So how can we think a little bit differently on advancing the care. In the area I'm working in, Lindsey, especially with some of these individuals that are kids, if they don't get access to care by a certain age point, their window of treatment has closed. And so what could we do to help facilitate earlier diagnosis and then that advanced care. And so I think we can see a lot of really good intentions, and I think the most beautiful thing is even the collective gathering of different patient organizations that have a shared interest of a disease coming together and also helping raise research funds to help support the scientists that have a hypothesis on something that may really make a difference and may matter. [00:10:21] Lindsey Dinneen: Yeah. Yeah. Okay, so, there has been so much innovation in the last few years-- of course, even before that, but it seems to be extremely exciting in the last few years-- especially things like CRISPR and all sorts of new technologies emerging. What are some of the exciting trends that you're seeing in this space specifically that give you hope as you continue to look forward and look for solutions? [00:10:45] Sara Aswegan: I think for me, I mentioned, I touched on it lightly. I think it's that collective, that collaboration and the openness now. The FDA has advanced the way that they think and engage with agencies as well as industry partners. And so what I mean by that, Lindsey, is they're not just engaging with the scientists or with the manufacturers, the drug developers. They're also bringing patients in. And so that collaborative environment, they're even beginning conversations when there's discussion on clinical trial design to understand what really matters. Is it a six minute walk test or is it something around real behavioral or other abilities that can be learned and retained over time that help benefit the quality of life? If you're not gonna be able to cure something, what's really important at that patient front to help facilitate something meaningful. So I think that type of conversation also with the agencies looking at, there was an amazing session held in Europe recently in the mucopolysaccharidosis or the lysosomal storage disease area, looking at advancements of science and saying, can we look at biomarkers alone and create that relationship and understanding there is a clinically meaningful impact if we can address this biomarker. And so, companies like Ultragenyx have really pushed to have that conversation and dialogue and have a drug filed now that's under review based on biomarker endpoints alone, where five years ago, you would never have imagined that being possible. [00:12:12] Lindsey Dinneen: Yeah. Yeah. You touched on something that I would really love to explore a little bit deeper, and that is, when there's a situation that right now we don't have a cure for this disease-- and, you know, obviously we're still working towards it-- but if we don't have a cure, but we are trying to improve the quality of life, how do you balance that in your specific field in terms of: obviously you want the patients to live the best quality of life that they can while balancing so many other, and I don't mean this in a callous way at all, just from a practical perspective, balancing all of these other considerations and things that are also desiring funding and all those competing priorities. So how do you balance that? How, how does that come into play? [00:12:57] Sara Aswegan: So that's a big one. It's a tough one. And I'll oversimplify it and just say data. And what I mean by that, Lindsey is really looking at, with the technology at our fingertips, regardless of the geography you're living in, there's a lot of meaningful information that can be captured. And it's not, again, around one aspect of a disease, but it's the totality of health. So really looking at what could be possible in capturing, is it around energy levels, activity levels. And you'll see that oftentimes in play with the gene therapy, for example, when it's administered, you may have up to 15 years of follow up that you're capturing specific data points. But even in advance of a drug approval, and an area I am also equally passionate about, is access to unlicensed medicines for individuals that can't travel to a clinical trial site and could benefit from an investigational therapy, how do we do that with the right balance in place? And part of that is data and having the willingness of a participant or family member to be so consented in and participating in the study for their child to share that data and share that real world data or real world evidence so that you can measure back and show what impact that drug or treatment or intervention has been having on the individual. So I think it's around that and figuring out how we can overcome some of the complexities and challenges that are real. Not everyone has electronic health records. There's still lots of paper-based offices out there. But in the meantime, there's a lot of advancements in technology. So how do you appropriately use that, that it's also not overburdensome for the individual, for the family as well, that you're doing what really matters and measuring back and having the right conversations with the individuals affected, the investigators, the clinicians, but then the regulators, and going back and sharing why this can be something to help substantiate. It's not your standard phase 1, 2, 3 clinical trial design. That's, yes, there's rigor, but it's a different way of looking at using data to help us advance our understanding of a disease and what's needed by the individual affected. [00:14:53] Lindsey Dinneen: Yeah. So, so when you're speaking with these families and or-- well, first of all, let me actually back up. Do you have direct communication with some of these families and patients that you're working with? [00:15:04] Sara Aswegan: Yes. [00:15:05] Lindsey Dinneen: Yeah. And so when that happens, how. How is it for you? I mean, this is such a challenging area that you have devoted your life to and to, and I'm so impressed with that. And, you're doing the work that's helping save lives and make a difference. But that must be really challenging from a personal level to have these difficult conversations. So how do you balance that as a practitioner and somebody who's desiring to help, but you also have this real life compassion and human being that you're trying to help? [00:15:38] Sara Aswegan: It's tough and it's tremendously rewarding. At the same time, I have so many patient stories I can share with you of meeting them and meeting 'em where they are. I made a trip to Sao Paulo, Brazil once, Lindsey, and met a family that were living in the favelas there, and their aim was to help raise awareness for Hunter's Syndrome because their son had been undiagnosed. They knew something was wrong. He was nonverbal. He had some physical presentation that you could understand. There was something going on, but the technology wasn't there for them. The access to the care center wasn't there for them to get a diagnosis. They were taking buses for hours to different clinics to figure out what's wrong with our son. And he finally received a diagnosis of Hunter Syndrome and they wanted to share the photos because kids with Hunter Syndrome do have some different dysmorphism. So there's something that's strange. They have a bossy forehead, or their bridge of their nose is a little different. Their bellies might be a little bit bigger. So if you start looking at all of these different clues and putting it together, you might suspect and go-- there's other things going on, for sure. So I'm oversimplifying this. However, getting a diagnosis for him by just raising awareness to other families of the physical presentation and what their experience was extremely meaningful for them. And on balance, a family in Florida that I met and their son was diagnosed at age 18 months because their grandmother had seen a program on Mystery Diagnosis and said, "That sounds like my grandson." And so creating the conversation and meeting people where they are is really important because you may have some individuals that are very aware of how drugs are developed and all of the rigor that goes through that to then others that just they don't understand that some drugs are intended for a specific indication, specific population, and helping explain why their child may not be eligible for a particular study. It's tough, and that's not my responsibility, but the clinical teams and the clinicians that are having those conversations. So it's listening and really coming with a open heart and mind and having empathy to help figure out how can you educate. It's even moving into gene therapy. What does gene therapy actually mean? What are the risks? I'm afraid this sounds like it's something so futuristic. What will this mean for my son or daughter in 10 years from now? And, we may not have all of the answers, but you know, science has advanced and it's that risk benefit that you have to exercise. But really it's that coming with compassion and a listening ear and understanding and being honest. And if I can't help, maybe there's someone else that can help or there's a, did you know, there's a clinic here or a center there and helping that network stay connected and thrive is really important. And also being their voice, Lindsey, I mean, we can, we have an opportunity on our pharma, biomedtech side of the world that we can share what we've observed and try to apply that as we come to work every day and think about that family we met in Brazil or in Boston or in Florida or in, you know, Frankfurt, and whatever they may be experiencing. So it's being their advocate in other areas as well. [00:18:34] Lindsey Dinneen: Yeah, exactly. So with what you deal with, I am wondering what kinds of misconceptions or myths do you often encounter that are interesting and yet you would prefer to correct so that those of us in the general population are more informed? [00:18:52] Sara Aswegan: That's a good one. So I think having worked in the rare disease space, one of the biggest scrutinies there, there's on two sides of the coin. One is around diagnosis and why we can't do more around diagnosis. And sometimes the science is just not there yet. So again, to some of these experiences, like the story of the family in Brazil, it may not be about a blood test. It may be about a physical appearance and helping people piece things together. I think on the other end is at the point of delivery of the diagnosis and then if there is a treatment or intervention that can be taken, and not everyone has the same principle in their heart. There are companies that are motivated for different reasons, but certainly the big topic is are around drug prices, whether it's a gene therapy or a chronic lifetime medication, of how do we navigate that and how do we navigate that in a better way? And I think we have to start looking as an industry, as a community of people, of how do we address that? The cost of doing a clinical trial is tremendous. It's hugely expensive. Does it warrant though huge price tags on drugs forever in perpetuity? What's that right balance? And I think having a level of social responsibility and looking at alternatives. And so imagine if we could reduce the time for clinical studies for requirements because we're able to look at other data. Things like the biomarker approach and the follow on real world data that could be captured, could that help us in the total overall offering and the cost to the overall health system? Maybe. I think that as an industry, every company operates with different principles and wanting to do best for the patient community. Some are more profit driven than others, and so that's a reality, and it's one that I get so often at dinners with friends or in personal conversations, professional conversations, and it's a tough one. At the same time, a study of 60 individuals could be double digit millions of dollars. Just the cost of facilitating the study, the production costs of some of these highly technical compounds of different therapies also becomes a factor. So you have to put all these pieces together and really explore what's driving that. [00:20:57] Lindsey Dinneen: Yeah, of course. And yes, I'm sure that's a really difficult conversation to have too, when you're especially working directly with patients and trying to explain all of that and that's a lot. That's a challenge. [00:21:10] Sara Aswegan: Yeah. Yeah. [00:21:11] Lindsey Dinneen: But on the flip side, you know, of course the work that you do makes a huge impact, and I'm wondering if there are any stories that come to mind that just really reinforced to you, "You know what? I am in the right place at the right time, in the right industry." [00:21:25] Sara Aswegan: Absolutely. And I think it goes to, I touched on it very briefly, and there are people that aren't living in near major cities, near major medical centers, and that should not make them obsolete from receiving the best care. And there are two things that have happened and partly because of the pandemic, but also partly because of the willingness to educate and have that connected community amongst clinicians, is around that access to unlicensed medicine and finding pathways that it's not just because a doctor says your son or daughter needs this medication. I'm going to reach out to the manufacturer to see if I can get access because they're not near a clinical trial site or they don't wanna participate, or they're unable to participate in a study. But finding means to do that. And there have been some really creative ways that clinicians have been able to do that, of setting up qualified treatment centers where the individual can go to receive the treatment and then that continuity of care is provided then over the life of their disease. It's something that's become real and meaningful, and you would be shocked at the number of individuals around the world that are receiving access to medicines that normally might have only 10 years ago been available if you were living in the Western Europe or the United States because studies weren't conducted in their country and so there's no pathway for access that is all changing. Those dynamics are changing. It takes a team of people, though. It takes regulators, it takes lawmakers, it takes industry. It takes our logistics teams to be sure if something's stored at cold chain, that that product is delivered in the right context at the right time, just in time for that patient to receive it. So it's a complex challenge, but it's one that we've seen serve individuals in a really meaningful way. And without that, they wouldn't have, they wouldn't have another option. [00:23:11] Lindsey Dinneen: Yeah. So having that impact and just being able to reinforce in those moments of maybe when it's especially difficult or you're especially frustrated like, "Oh my gosh, I wish I could help X, Y, and Z," at least you can look back and go, "Yes, but look at all this that we are doing." [00:23:26] Sara Aswegan: You know, Lindsey, also it's that education piece and being curious and asking questions. The scientific community and one of the lead leaders in the NPS community is in North Carolina, Joe Munzer. Dr. Joe Munzer, he's brilliant. And one of the initiatives that we started was something called a masterclass. And so with Dr. Munzer and seven or eight other clinicians from around the world, we literally went on an educational program around the world. And some of the individuals that had just come out of their postgraduate work, pediatric geneticists or neurologists meeting the number one or two people that know this space so well, being mentored by them. And now those individuals are facilitating their class, the same type of class in their local language to their local communities and creating that level of education and awareness. I mean, it's just to see that real impact over time. I actually get goosebumps just thinking back on the impact that has had. And you've got a community of clinicians that they're, I mean, there's a lot of needs still to study medical genetics. And so hopefully we have individuals that are scientifically interested and will continue that that journey so that they can be the next teachers across borders. That makes the difference. [00:24:37] Lindsey Dinneen: Yeah. Absolutely. Wow. Yeah. Thank you for sharing that. I was also getting goosebumps just listening to it because that's incredible ripple effect that you had and continue to have. That's amazing. [00:24:47] Sara Aswegan: Yeah. Yeah. [00:24:47] Lindsey Dinneen: Yeah. Oh man. Okay. Well, I could talk about this for a long time, but pivoting the conversation a little bit, just for fun. Imagine that you were to be offered a million dollars to teach masterclass on anything you want. It can be within your industry, but doesn't have to be. What would you choose to teach? [00:25:05] Sara Aswegan: Wow. That is a great question, Lindsey. A masterclass-- a million dollars-- a masterclass on anything I would want. I would be drawn to some of the advancements we're seeing in gene therapies, but I think that would be, I wanna try to serve a broader population. Do you know? I think it's, I think if I could look, I would do something around looking back on some of these, if you will use cases and best practices, to share those learnings, just because we know the impact that it will have and has had and continues to have. And not just on the scientific community, but it ripples down into the patient communities of asking that question of "what can be possible, how can we together." Instead of " no," it's actually, "yes and" or "no and" we hear something else, another construct. And really breaking it down to really enforce what I've talked about on several moments during our conversation today is it can't just be the manufacturer, the, or the developer. It can't just be academia. It can't just be health authorities or regulators. It's a collective community and it has to include that patient within that conversation to help for that learning and advancement and understanding. And so I think it's something around that, the best practices, use cases, and really things that made a difference. Meeting people where they are of a good understanding of the science, not good understanding of the science, that crosses all levels. Drug development overall. The total continuity of care for my individual affected. It's not just about a drug, but it's about assistive devices or other tools that they can have a better life. And so being really thoughtful about that I think would be something that would be really amazing. That it's actually captured and taught back. [00:26:47] Lindsey Dinneen: Yeah, absolutely. That would be a fantastic masterclass. All right, and then how do you wish to be remembered after you leave this world? [00:26:56] Sara Aswegan: Well, at some point I know my husband will admit I have the best sense of humor. [00:27:01] Lindsey Dinneen: Yes. [00:27:02] Sara Aswegan: I think for me, Lindsey, I really would hope that people would say an open heart, a generous heart, and just a connector of people, personally, professionally. It takes two seconds to be kind and open and nobody has all the answers. So help people connect with others and be willing to say, "How can I help?" [00:27:20] Lindsey Dinneen: Yeah, absolutely. Yeah. And then final question, is one thing that makes you smile every time you see or think about it? [00:27:31] Sara Aswegan: I just came in from my garden and I have to say, seeing my advancement of fostering my garden and I've got things blooming now. There is hope. [00:27:40] Lindsey Dinneen: I love that. I feel that way every time I somehow succeed in keeping a plant alive. [00:27:45] Sara Aswegan: There is hope. It's really around the simple things, right? That's it. [00:27:49] Lindsey Dinneen: Yeah, absolutely. Now, for any of our listeners who are excited to get to know about you and your work a little bit more, can you just share briefly what is it that you do right now to help companies succeed and how can people get in touch with you? [00:28:02] Sara Aswegan: Thanks, Lindsey. So I am currently doing some advisory board work for a couple of consultancies as well as helping some small and mid-sized biotechs figure out their pathway and how they go to market. How do they facilitate access to unlicensed medicines? I'm passionate about the rare space, so I'm serving also on a couple of special projects on getting drugs and diagnostics into low middle income countries. And it's something I'm very passionate about and I've got a great network of people. So if I can't help, I'm always happy to say, "Not me, however, I know someone you should talk to." And to get in touch, it's not easy to spell, but it's www.saraaswegan.com. And again, if I can't help, I might know someone who can. And I think it's just, it's really good to share our knowledge and experience and really make a difference however we can. [00:28:47] Lindsey Dinneen: Yeah. Absolutely. Well, thank you, Sara. This has been absolutely incredible to learn from you, to hear about your story. So thank you for sharing and being open. I really appreciate that. And my goodness, I just wish you the most continued success as you work change lives for a better world. [00:29:03] Sara Aswegan: Thanks Lindsey, and thanks for everything you're doing. Really, hats off. Thanks a million. [00:29:07] Lindsey Dinneen: Of course, and have the best rest of your day. And thanks also to our listeners for tuning in. If you're feeling as inspired as I am right now, I'd love it if you shared this episode with a colleague or two and we'll catch you next time. [00:29:22] Ben Trombold: The Leading Difference is brought to you by Velentium. Velentium is a full-service CDMO with 100% in-house capability to design, develop, and manufacture medical devices from class two wearables to class three active implantable medical devices. Velentium specializes in active implantables, leads, programmers, and accessories across a wide range of indications, such as neuromodulation, deep brain stimulation, cardiac management, and diabetes management. Velentium's core competencies include electrical, firmware, and mechanical design, mobile apps, embedded cybersecurity, human factors and usability, automated test systems, systems engineering, and contract manufacturing. Velentium works with clients worldwide, from startups seeking funding to established Fortune 100 companies. Visit velentium.com to explore your next step in medical device development.

In this episode of Once Upon a Gene, Effie sits down with Dr. Maya Gosztyla from Brainstorm Therapeutics to explore one of the most exciting frontiers in rare disease research - organoids. These “mini brains in a dish” are clusters of real human brain cells grown from a child's stem cells. They're giving researchers and families new ways to study disease, test drugs, and imagine personalized treatments. Effie and Maya talk about: What organoids are and why they matter for rare diseases How organoids could replace traditional mouse models, speeding research while reducing reliance on animal studies The potential for organoids to accelerate drug development and get treatments to clinical trials faster How these tiny models might unlock personalized medicine, tailored to each child's unique mutation Why this shift from “watching and waiting” to testing and acting could be transformative for families Maya brings not only her scientific brilliance but also her heart and connection to the rare disease mission. This conversation will expand your sense of what's possible for the future of research, treatment, and hope for our kids.

This episode of Standard Deviation features Oliver Bogler in conversation with Dr Na Zhao, a cancer biologist caught in the crossfire of science, politics, and survival. Na's life reads like a brutal lab experiment in persistence.She grew up in China, lost her mother and aunt to breast cancer before she turned twelve, then came to the United States to chase science as both an immigrant and a survivor's daughter. She worked two decades to reach the brink of independence as a cancer researcher, only to watch offers and grants vanish in the political chaos of 2025.Oliver brings her story into sharp focus, tracing the impossible climb toward a tenure-track position and the human cost of a system that pulls the ladder up just as people like Na reach for it. This conversation pulls back the curtain on the NIH funding crisis, the toll on early-career scientists, and what happens when personal tragedy fuels professional ambition.Listeners will walk away with a raw sense of how fragile the future of cancer research really is, and why people like Na refuse to stop climbing.RELATED LINKSDr Zhao at Baylor College of MedicineDr Zhao on LinkedInDr Zhao's Science articleIndirect Costs explained by US CongressFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

“Probably the most exciting thing I've seen in gene therapy over the last ten years is we now have a lot of tools for selective delivery, which will hopefully make treatments more safe and a lot more successful,” says Dr. Jessica Duis, a geneticist and pediatrician focused on the management of individuals with complex, rare disorders. Dr. Duis, who has worked on several gene therapies that are now approved or progressing through the accelerated approval pathway, is currently VP of Clinical Development at GondolaBio, a clinical-stage biopharmaceutical company focused on developing therapeutics for genetic diseases. As you'll learn in this Year of the Zebra episode with host Lindsey Smith, Dr. Duis is encouraged by other recent advances in genetic technology as well, and thinks momentum will grow as breakthrough treatments emerge. “I think we're hopefully going to continue to see companies that are working in rare disease be more successful and really drive how regulators think about making decisions in terms of bringing treatments to patients. I think we're at the tip of the iceberg in terms of the future of truly transformational therapies.”  This wide ranging conversation also explores Dr. Duis' team approach to patient care, her work on clinical endpoints, the importance of patient communities, and her book series, Rare Siblings Stories.Mentioned in this episode:GondolaBioRareDiseaseDocElsevier Healthcare Hub on Rare DiseasesRare Sibling Stories 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

Katie Henry has seen some things. From nonprofit bootstraps to Big Pharma boardrooms, she's been inside the machine—and still believes we can fix it. We go deep on her winding road from folding sweaters at J.Crew to launching a vibrator-based advocacy campaign that accidentally changed the sexual health narrative in breast cancer.Katie doesn't pull punches. She's a born problem solver with zero tolerance for pink fluff and performative empathy. We talk survivor semantics, band camp trauma, nonprofit burnout, and why “Didi” is the grandparent alter ego you never saw coming.She's Murphy Brown with a marimba. Veronica Sawyer in pharma. Carla Tortelli with an oncology Rolodex. And she still calls herself a learner.This is one of the most honest, hilarious, and refreshingly real conversations I've had. Period.RELATED LINKS:Katie Henry on LinkedInKatie Henry on ResearchGateLiving Beyond Breast CancerNational Breast Cancer CoalitionFEEDBACK:Like this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Rare diseases do not receive enough attention for the impact they have on patients and their families. This is what AlphaRose's founder and CEO Casey McPherson learned after his daughter was diagnosed with a rare condition. In a conversation with host Ari Berman, McPherson shares how he switched from music to founding his own pharmaceutical company, what technologies AlphaRose is developing, and how his company is creating environments that allow innovation and iteration. He also shares his thoughts on embracing failure in order to make progress and emphasizes holding compassion and understanding for the patients and families that are impacted by rare diseases—because you never know what it's like until it happens to you. Bio-IT World's Trends from the Trenches podcast delivers your insider's look at the science, technology, and executive trends driving the life sciences through conversations with industry leaders.

Dr. David Fajgenbaum, MD, MBA, MSc, is a pioneering physician-scientist, tenured professor at the Perelman School of Medicine at the University of Pennsylvania, and national bestselling author who transformed his personal battle with the rare, deadly Castleman disease into a global mission to accelerate cures for humanity's 12,000 known diseases. Diagnosed after losing his mother to cancer, Fajgenbaum endured five near-death experiences before using his medical training to identify sirolimus—a repurposed drug—as a life-saving treatment, achieving remission marking over a decade cancer-free as of 2025. A Georgetown University graduate with advanced degrees from Oxford and Wharton, he co-founded the Castleman Disease Collaborative Network (CDCN) and Every Cure, leveraging AI and drug repurposing to unlock hidden treatments, earning spots on TIME's 2025 TIME100 Health list and major media recognition for his "cure thyself" story. Through his book Chasing My Cure and speaking engagements, Fajgenbaum inspires hope, advocates for patient-driven research, and pushes for policy changes to speed up cures for rare diseases affecting millions worldwide. Shawn Ryan Show Sponsors: https://americanfinancing.net/srs NMLS 182334, nmlsconsumeraccess.org. APR for rates in the 5s start at 6.327% for well qualified borrowers. Call 866-781-8900, for details about credit costs and terms. https://bunkr.life – USE CODE SRS Go to https://bunkr.life/SRS and use code “SRS” to get 25% off your family plan. https://shawnlikesgold.com https://ROKA.com – USE CODE SRS https://simplisafe.com/srs https://USCCA.com/srs https://ziprecruiter.com/srs https://gemini.com/srs Sign up for the Gemini Credit Card: https://Gemini.com/SRS #GeminiCreditCard #CryptoRewards #Advertisement This video is sponsored by Gemini. All opinions expressed by the content creator are their own and not influenced or endorsed by Gemini. The Bitcoin Credit Card™ is a trademark of Gemini used in connection with the Gemini Credit Card®, which is issued by WebBank. For more information regarding fees, interest, and other cost information, see Rates & Fees: gemini.com/legal/cardholder-agreement. Some exclusions apply to instant rewards; these are deposited when the transaction posts. 4% back is available on up to $300 in spend per month for a year (then 1% on all other Gas, EV charging, and transit purchases that month). Spend cycle will refresh on the 1st of each calendar month. See Rewards Program Terms for details: gemini.com/legal/credit-card-rewards-agreement. Checking if you're eligible will not impact your credit score. If you're eligible and choose to proceed, a hard credit inquiry will be conducted that can impact your credit score. Eligibility does not guarantee approval. The appreciation of cardholder rewards reflects a subset of Gemini Cardholders from 10/08/2021 to 04/06/2025 who held Bitcoin rewards for at least one year. Individual results will vary based on spending, selected crypto, and market performance. Cryptocurrency is highly volatile and may result in gains or losses. This information is for general informational purposes only and does not constitute investment advice. Past performance is not indicative of future results. Consult with your tax or financial professional before investing. Dr. David Fajgenbaum Links: Website - https://davidfajgenbaum.com X - https://x.com/DavidFajgenbaum IG - https://www.instagram.com/dfajgenbaum LI - https://www.linkedin.com/in/davidfajgenbaum Every Cure - https://everycure.org Castleman Disease Collaborative Network - https://cdcn.org TED talk - go.ted.com/davidfajgenbaum TED YT - https://youtu.be/sb34MfJjurc Chasing My Cure (Amazon) - https://www.amazon.com/Chasing-My-Cure-Doctors-Action/dp/1524799637 Learn more about your ad choices. Visit podcastchoices.com/adchoices

In this episode, we tune into the unfiltered voices of patients and caregivers navigating life with rare conditions.Through the power of social listening, we uncover the hidden struggles around mental health—stories often left unsaid in clinics but shared openly online. Joined by Lauren Roberts from Rareminds, we explore what these conversations reveal, why they matter, and how they can reshape support for rare disease communities.

Alexion, AstraZeneca Rare Disease welcomed government officials, academic leaders, and industry partners to its hub in Cork, reinforcing the company's commitment to productive partnerships and collaborative relationships within Ireland's life sciences sector. Alongside established global operations in Dublin and Athlone, the Cork hub demonstrates Alexion's dedication to building enduring connections across Ireland. The country continues to play a vital role as a global supply chain hub, delivering life-changing rare disease therapies worldwide - a complex mission that depends on strong collaboration to ensure quality, safety and timely access for patients in need. Cork serves as a base for senior technical roles in manufacturing, supply chain, quality, and technical operations, positioning Alexion and AstraZeneca as active contributors to a vibrant regional life sciences community. Cork and the wider Munster region boast a robust talent pool and leading academic institutions, which enables shared innovation and professional development. Cork hub for rare disease research Across Dublin, Athlone, and Cork, Alexion and AstraZeneca employ approximately 1,400 people in development, manufacturing, supply, and commercial roles, working together with colleagues, partners, and educational experts to advance solutions for rare disease patients. Shane Doyle, Senior Vice President, Global Operations and Sustainability, Alexion, AstraZeneca Rare Disease, commented: "Ireland has long stood as a cornerstone of our global network, and our partnerships here reflect both our confidence in the country's talent, infrastructure, and supportive business environment, and our shared commitment to collaboration. Working closely within the Irish life sciences community allows us to enhance specialist capabilities in supply chain and technical operations, ultimately delivering our life-changing medicines to more patients around the world." Sylvia Kiely, VP, Global Supply Chain and Product Strategy Lead, Alexion, AstraZeneca Rare Disease, said: "Cork represents a convergence of talent and academic excellence, and we look forward to deepening our relationships across Munster's educational institutions and life sciences ecosystem. By working together, we nurture future talent and build on the region's strengths through ongoing collaboration and shared purpose." Michael Lohan, CEO of IDA Ireland, added: "I would like to congratulate Alexion, AstraZeneca Rare Disease on establishing its operations hub in Cork. Their presence here underscores Ireland and indeed Cork's reputation as a key hub for the life sciences sector. With its well-established talent base, robust infrastructure, and pro-business environment, Ireland continues to attract strategic investments from world-leading companies. I would like to wish Alexion every success in the coming years." Alexion in Ireland Alexion, AstraZeneca Rare Disease in Ireland employs ~1,400 people across sites in Dublin, Athlone and Cork. Alexion is focused on the highly specialist development, manufacturing, supply, and distribution of AstraZeneca's Rare Disease portfolio. Pairing vast technical capability with deep scientific knowledge our people across Ireland lead the sector in creating innovative sustainable solutions to meet the complex needs of rare disease patients throughout the world. Alexion Alexion, AstraZeneca Rare Disease is focused on serving patients and families affected by rare diseases and devastating conditions through the discovery, development and delivery of life-changing medicines. A pioneering leader in rare disease for more than three decades, Alexion was the first to translate the complex biology of the complement system into transformative medicines, and today it continues to build a diversified pipeline across disease areas with significant unmet need, using an array of innovative modalities. As part of AstraZeneca, Alexion is continually expanding its global geographic footprint to ser...

Steve Gruber discusses news and headlines 

With nearly one in ten newborns in the US requiring care in a Neonatal Intensive Care Unit, the importance of NICUs has never been more clear. On today's episode of Raise the Line, we're shining a light on the extraordinary world of NICUs with Lindsay Howard, a veteran nurse with over 17 years of experience caring for premature and critically ill infants. She currently works in a Level IV NICU at Children's Memorial Hermann Hospital in Houston, one of the most advanced neonatal units in the country. “We call ourselves ‘the ER of the neonate world' because we're never full. We have to make space no matter what comes in off the street, and at the biggest medical center in the world, we see all the things,” she explains. In this enlightening conversation with host Lindsey Smith, Howard describes how advances in medicine have made it possible to provide more types of care for younger and smaller babies, creating a need for NICU nurses to develop subspecialties. In her case, Howard is on a dedicated team that handles the placement and maintenance of all central line IVs, and has earned certifications in neonatal and pediatric chemotherapy and biotherapies. “We see babies that we may not have seen before being born with cancerous tumors who need chemotherapy to try and eliminate it, or just give them more time with their family.” This is a revealing look inside the workings of a top tier NICU where you'll learn about approaches to care that support healthy neurodevelopment, how clinical staff handle the emotional challenges of the job, and how her own experience as a mother with twins needing NICU care impacted her work.  Mentioned in this episode:Children's Memorial Hermann Hospital 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/raisethelinepodcast

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma e Biotech world.Uniqure's gene therapy for Huntington's disease, AMT-130, has shown promising results in a 3-year study, slowing disease progression by 75%. If approved, it would be the first genetic treatment for Huntington's. Meanwhile, Acadia Pharmaceuticals has discontinued a Prader-Willi drug after a late-stage failure. Biogen received an unexpected FDA rejection for a high dose of Spinraza, and J&J received a warning letter for violations at a Korean production plant. In the competitive bioscience industry, credentials from Biotility can help advance careers. Sanofi is investing in rare disease and neuro innovation, while Lilly is expanding manufacturing facilities. Scholar Rock faced setbacks with its spinal muscular atrophy drug.Chinese biotech has rapidly risen to become a global powerhouse, with companies making significant strides in oncology and other areas. However, despite this success, Chinese biotechs are facing financial challenges similar to those in the US. The influx of interest from big pharma has been a lifeline for these companies as they strive to prove themselves on the global stage. Akeso, a rising star in Chinese biotech, has developed potential blockbuster drugs and is valued highly in the market. However, President Trump's potential executive order restricting drug licensing deals in China could pose a threat to the progress made by Chinese biotechs. Despite these challenges, Chinese companies continue to perform well, with significant investments and partnerships driving growth in the industry. Pfizer's CEO emphasized the need for the US to focus on improving and competing with China rather than trying to slow them down. The future of Chinese biotech remains uncertain in the face of geopolitical tensions, but the industry continues to innovate and attract investment from pharmaceutical companies worldwide.

Send us a text (Note: we are not able to respond but LOVE to hear from you!!)In this episode, I sit down with Nikki McIntosh, founder of Rare Mamas® and host of the Rare Mamas Rising Podcast. Nikki is also the author of Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease, a book born from her family's journey after her son's rare diagnosis.We talk about the shock of those early days, the fight for treatment, and what it's like raising one child with a rare condition and another without. Nikki shares how she turned pain into purpose, creating resources and community to give other moms strength, strategies, and hope.This conversation is full of those “me too” moments—reminders that we're not as alone as we sometimes feel. Nikki and I also touch on the rollercoaster of emotions that come with parenting in the world of rare disease, from fear and grief to joy and fierce determination. Her story is a powerful example of what it looks like to fight for your child while still choosing to build a meaningful, hope-filled life.Resources MentionedRare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease Rare Mamas communityRare Mamas Rising PodcastCure SMA (patient advocacy group)JOIN THE WAITLIST for Pathway to Peace Coaching Community Get The Special Needs Mom Survival Pack HEREConnect with Kara, host of The Special Needs Mom Podcast:Instagram: https://www.instagram.com/thespecialneedsmompodcast/Website: https://www.kararyska.com/ JOIN WAITLIST for The Pathway to Peace Coaching Community

RARE MAMAS RISING- EPISODE 52 Rare Mamas Book Release + A Special Reading from the Introduction Today is the day! Nikki's new book, Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease, is officially here. In this very special episode, Nikki celebrates release day by sharing the heartfelt introduction, giving you a first look at the hope, strength, and sisterhood at the heart of Rare Mamas. This book is a lifeline for rare moms, rare disease parents, and caregivers who are navigating the overwhelming and often isolating rare disease journey—whether you're just receiving a diagnosis or years into the caregiving trenches. If you've ever felt unseen, overwhelmed, or unsure of the path ahead, Nikki's hope is that this book and today's episode provide you with the strategies, strength, support, and sisterhood to rise to the call of rare parenting.  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 Nikki's taken her lived experiences and hard-won wisdom from over a decade and poured them into a compassionate and actionable guide to help mothers navigate the complexities of rare disease parenting while finding strength, hope, and community. Inside the book, you'll learn how to: Adopt the right mindset for the journey ahead Advocate with confidence and diplomacy Navigate complex medical, educational, and financial systems Discover practical strategies for daily challenges Feel capable and empowered to make decisions Build a circle of support you can count on Balance caregiving with your own well-being Find strength in sisterhood and shared wisdom Hold onto hope while facing the unknown Rise to the call of rare parenting   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 this episode of IDEA Collider, we are joined by Alex Telford, a biotech founder, writer, and thinker based in the San Francisco Bay Area. As the co-founder of Convoke Bio, Alex discusses his journey from studying biochemistry at UCL to founding a company that develops software tools for streamlining biopharmaceutical workflows.The conversation dives into the impact of AI and language models on the biotech industry, addressing inefficiencies in drug development, and exploring the potential of synthetic biology and personalized medicine. The discussion also touches on the future of drug discovery, China's role in biotech, and the challenges of understanding neuroscience and consciousness. Don't miss this insightful discussion on the future of biopharma innovation! 00:00 Welcome to Idea Collider00:04 Introducing Alex Telford01:59 Alex's Journey from UCL to Convoke Bio05:29 The Mission and Work of Convoke Bio07:57 Challenges in Pharma Decision Making14:05 The Role of AI in Pharma18:26 Knowledge Management and AI27:58 Staying Updated in the Fast-Moving AI Field30:25 AI's Impact on Industry Economics31:38 AI in Clinical Trials and Drug Development35:56 China's Role in Drug Discovery39:24 Neuroscience and AI: Blurring the Lines46:05 Future Predictions in Pharma51:20 Addressing Cognitive Bias in Pharma53:13 Concluding Thoughts and Future Directions Keep up with Alex Telford;LinkedIn: https://www.linkedin.com/in/alexander-telford/Website: atelfo.github.ioX: https://twitter.com/atelfoSubstack: atelfo.substack.com Follow Mike Rea On;Website: https://www.ideapharma.com/X: https://x.com/ideapharmaLinkedIn: https://www.linkedin.com/in/bigidea/ Listen to more fantastic podcast episodes: https://podcast.ideapharma.com/

“When you think about where we were as a country before Medicare and Medicaid were created and where we are now, it's an incredible story,” says Chiquita Brooks-LaSure, who until earlier this year was the administrator for the Centers for Medicare and Medicaid Services (CMS). In a recent essay for The Century Foundation, where she is now a senior fellow, Brooks-LaSure used the 60th anniversary of enactment of those foundational insurance programs to help put their impact on individual Americans, the healthcare system and society at large in perspective. One prominent example is the desegregation of hospitals, which was achieved in part by withholding reimbursements for care unless facilities served Blacks as well as whites. Another is making it possible for more people with disabilities to live at home instead of in institutional settings. But as you'll hear in this probing Raise the Line conversation with host Lindsey Smith, Brooks-LaSure worries that many gains in coverage and other progress made over the years through Medicare, Medicaid and the Child Health Insurance Program (CHIP) are at risk because of a new federal law that calls for a trillion dollar decrease in spending, resulting in potentially millions of people losing their coverage, cuts to clinical staff and medical services, and the closure of hospitals and clinics, especially in rural areas. “Most rural hospitals in this country are incredibly dependent on both Medicare and Medicaid to keep their doors open and there's an estimate that over 300 hospitals will close as a result of this legislation, so that, I think, is a place of incredible nervousness.” Whether you are a patient, provider, policymaker or health system leader, this is a great opportunity to learn from an expert source about the range of potential impacts that will flow from changes to critically important insurance programs that provide coverage to 40% of adults and nearly 50% of children in the U.S. Mentioned in this episode:The Century FoundationEssay on 60th Anniversary of Medicare & Medicaid 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/raisethelinepodcast

Sophie Sargent walked into the studio already owning the mic. A pandemic-era media rebel raised in New Hampshire, trained in Homeland Security (yep), and shaped by rejection, she's built a career out of DM'ing her way into rooms and then owning them. At 25, she's juggling chronic illness, chronic overachievement, and a generation that gets dismissed before it even speaks.We talk Lyme disease, Lyme denial, and the healthcare gaslighting that comes when you “look fine” but your body says otherwise. We dive into rejection as a career accelerant, mental health as content porn, and what it means to chase purpose without sacrificing identity. Sophie's a former morning radio host, country music interviewer, and Boston-based creator with a real voice—and she uses it.No fake podcast voice. No daddy-daughter moment. Just two loudmouths from different planets figuring out what it means to be seen, believed, and taken seriously in a system designed to do the opposite.Spoiler: She's smarter than I was at 25. And she'll probably be your boss someday.RELATED LINKSSophie on InstagramSophie on YouTubeSophie on LinkedInMedium article: “Redefining Rejection”See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

What happens when you hand a mic to the most extroverted, uncensored Gen Z career coach in New York? You get Olivia Battinelli—adjunct professor, student advisor, mentor, speaker, and unfiltered truth-teller on everything from invisible illness to resume crimes.We talked about growing up Jewish-Italian in Westchester, surviving the Big Four's corporate Kool-Aid, and quitting a job after 7 months because the shower goals weren't working out. She runs NYU Steinhardt's internship program by day, roasts Takis and “rate my professor” trolls by night, and somehow makes room for maple syrup takes, career coaching, and a boyfriend named Dom who sounds like a supporting character from The Sopranos.She teaches kids how to talk to humans. She's allergic to BS. And she might be the most Alexis Rose-meets-Maeve Wiley-mashup ever dropped into your feed. Welcome to her first podcast interview. It's pure gold.RELATED LINKS:Olivia Battinelli on LinkedInOlivia's Liv It Up Coaching WebsiteOlivia on InstagramNYU Steinhardt Faculty PageFEEDBACK:Like this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

In this episode, we dive deep with James (Jared) Maynard—a physiotherapist, strength coach, and competitive powerlifter—who not long ago faced a life-threatening health crisis. What began as a simple head cold spiraled quickly into organ failure, a rare autoimmune condition called HLH, and five weeks on life support. James takes us through the harrowing journey of fighting for his life, grappling with the loss of his physical strength, and rebuilding himself from the ground up—both physically and mentally. Through candid conversations, he and Chris explore the daunting challenges of identity shifts, the importance of resilience, and the power of community support during times of crisis. James also opens up about how this experience reshaped his values, his priorities, and his approach to coaching others through their darkest moments. Whether you're an athlete, a coach, or someone facing a difficult path, this episode is a testament to the indomitable human spirit and the transformative potential of strength—inside and out. Join us as we explore what it truly means to be resilient, and how, sometimes, losing everything can lead to a life of even greater purpose.   Key Takeaways: Resilience Is Built Before It's Needed: Jared credits years of training for literally saving his life—his physical and mental strength gave him a fighting chance. Cultivating strength, he says, is the best kind of life insurance. Redefining Identity: When everything you've built is stripped away, you're forced to confront the core of who you are. Jared opens up about the grief of losing his physical capabilities and the deep self-reflection it prompted. He urges us all to diversify our identities beyond just what we do. The Game of Inches: Recovery started not with personal records, but with celebrating the tiniest steps—holding a phone, standing for 30 seconds, building back from two-and-a-half pound plates. The real battle is finding the discipline and optimism to keep going when the wins feel minuscule. The Power of Support: Sometimes, being tough isn't about “doing it all.” Jared shares how leaning on his family, mentors, and broader community was critical—not just physically, but emotionally. Saying Yes to What Matters: Jared's brush with mortality is a powerful reminder to focus on what truly matters—his family, his mission, and savoring the small moments.   This episode of the ARCHITECT of RESILIENCE podcast is available on Apple, Spotify & YouTube, and is sponsored by  @marekhealth : Performance. Longevity. Optimization.