Podcasts about rare diseases

“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

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

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

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...

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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

In this episode of Inside Biotech, we sit down with John Marlowe and Pete Kane to explore how patient-driven innovation is transforming research on rare diseases and oncology. John shares his own 15-year medical odyssey filled with misdiagnoses and being told his symptoms were “in his head” and how his relentless determination led him to long-read sequencing which finally revealed his rare disease diagnosis. Pete, founder of Research to the People, explains how his nonprofit brings together scientists, engineers, and patients in open hackathons to tackle unsolved medical mysteries.Together, John and Pete reveal what happens when “scientific cowboys and cowgirls” unite—merging cutting-edge genomics, AI, and the power of community and collaboration to push the boundaries of diagnosis and treatment. Their story is a powerful reminder that the future of biotech is not just about technology but about people coming together to rewrite what's possible. Follow our Instagram @insidebiotech for updates about episodes and upcoming guests! To learn more about BCLA's events and consulting visit our website.Follow BCLA on LinkedIn

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.

The challenges and triumphs of living with a rare disease. Leslie Baldwin shares her personal journey with Common Variable Immune Deficiency and Ehlers-Danlos Syndrome. You'll hear what fueled her passion for advocacy and the creation of Michigan Rare (MI-RARE). Together, they discuss the power of community, the importance of patient empowerment, and how collaboration with policymakers can expand access and resources for those living with rare conditions.TakeawaysAdvocacy is essential for the rare disease community.Building connections provides vital support.Patients should feel empowered to speak up for their health.Collaboration with policymakers can drive positive change.Storytelling inspires and unites the community.Engagement raises awareness and strengthens support networks.Advocacy days introduce rare disease issues to lawmakers.Recognizing unique challenges leads to better understanding.Coalitions amplify the collective voice of rare disease advocates.Empowering patients and caregivers enhances quality of life.About Leslie BaldwinA Michigan native now living in Holt, Leslie is a rare disease advocate. She co-founding MI-RARE, a foundation uniting rare disease voices across Michigan, alongside Kayla Miller, Kathi Luis, Kortney Lee, Chris Draper, and Laura Bonnell.Her advocacy experience is wide-ranging: she has worked with Autism Speaks, National Organization for Rare Disorders (NORD), The EveryLife Foundation, NIH, CMS, and the FDA. As Director of Strategic Advancement with Texas Rare Alliance, she helped pass key legislation that earned her national recognition as a finalist for the 2023 Rare Voice Award in State Advocacy.On September 30th, MI-RARE will host the Michigan Rare Disease State Advocacy Day at the Capitol, a powerful opportunity for patients, families, and caregivers to share their stories with lawmakers and demonstrate that while each condition may be rare, together we are many.To connect go to: MI-rare.org Register for Advocacy Day opens August 4th and ends September 12th, 2025.  There is a travel stipend too. Go to the MI-Rare website.To connect with Leslie Baldwin: leslie@mi-rare.org Please like, subscribe, and comment on our podcasts!Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Watch our podcasts on YouTube: https://www.youtube.com/@laurabonnell1136/featuredThanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en

It seems there are news stories every week about the accelerating pace of innovation in gene therapy, but only about 50 therapies have been approved so far by the US Food and Drug Administration. Our guest today, Dr. Bobby Gaspar, leads a UK-based biotech company, Orchard Therapeutics, that developed one of those treatments using gene-modified stem cells in your blood that self-renew, so a single administration can give you potentially a lifelong effect. “Our approach is about correcting those hematopoietic stem cells and allowing them to give rise to cells that can then correct the disease,” explains Dr. Gaspar.  The therapy in focus is lenmeldy, the first approved treatment for metachromatic leukodystrophy, also known as MLD, a devastating inherited disorder that affects roughly 600 children worldwide. But Dr. Gaspar is optimistic that learnings from Orchard's work on MLD could be useful in treating much more common disorders including frontotemporal dementia, Crohn's disease and others. This highly informative conversation with host Lindsey Smith also explores the importance of newborn screening, community collaboration in advancing clinical trials for rare diseases, and a future in which each gene therapy will be used as a tool for specific applications.  “There will be many gene therapies available, some of which will become the standard of care for certain diseases, but it won't be for every disease.”Mentioned in this episode:Orchard Therapeutics 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

In the In Conversation With series, a part of the free DDW podcast, DDW speaks with members of the drug discovery industry about their work and how it helps turn science into business.    In this episode, Megan Thomas is in conversation with Emma Johnson, CEO of Essential Pharma, about the company's move into clinical development, with the acquisition of Renaissance Pharma's immunotherapy asset in development for the treatment of high-risk neuroblastoma in children.  You can listen below, or find The Drug Discovery World Podcast on Spotify, Google Play and Apple Podcasts. 

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.

This episode is sponsored by Invivyd, Inc.Marc Elia is a biotech investor, the Chairman of the Board at Invivyd, and a Long COVID patient who decided to challenge the system while still stuck inside it. He's not here for corporate platitudes, regulatory shoulder shrugs, or vaccine-era gaslighting. This is not a conversation about politics, but it's about power and choice and the right to receive care and treatment no matter your condition.In this episode, we cover everything from broken clinical pathways to meme coins and the eternal shame of being old enough to remember Eastern Airlines. Marc talks about what it means to build tools instead of just complaining, what Long COVID has done to his body and his patience, and why the illusion of “choice” in healthcare is a luxury most patients don't have.This conversation doesn't ask for empathy. It demands it.RELATED LINKSMarc Elia on LinkedInInvivyd Company SiteMarc's Bio at InvivydFEEDBACKLike 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.

Dr. George Magrath, CEO of Opus Genetics, discusses the company's experience in obtaining non-dilutive funding for its ultra-rare inherited retinal disease program. He highlights the challenges and advantages of this funding source, as well as the importance of establishing relationships with patient advocacy groups and foundations to mitigate risk and increase their attractiveness to traditional investors. The drive for non-dilutive funding for ultra-rare diseases is expected to become increasingly important in helping to get drugs to clinical trials. George explains, "Opus Genetics is a gene therapy company for eye disorders that occur in children. And these disorders are ultra-rare. It's 200 patients, a thousand patients per indication, and it's really good science. It's from Gene Bennett, who was the inventor of Luxturna, which was the first approved genetic medicine. And it does require some non-conventional thought on the financing, though, because these are so rare. And what we've done at Opus Genetics and have been really fortunate to be a part of is non-diluted funding from external sources. And that comes in the form of partnerships with patient families and organizations, like we just announced last week with RDH 12 Alliance." " It also comes with the Foundation Fighting Blindness, which has given us a number of grants and non-dilutive funding deals. And so those have been really important to Opus and have really helped us progress the programs. The way we think about that is the first principle is the clinical data we typically generate using our equity dollars. The preclinical work we try to do with non-dilutive funding, and that way we're able to focus on spending in rare scenarios." #OpusGenetics #RareDiseases #UltraRareDiseases #EyeDiseases #GeneTherapy #NonDilutiveFunding #Blindness #Ophthalmology opusgtx.com Listen to the podcast here

Dr. George Magrath, CEO of Opus Genetics, discusses the company's experience in obtaining non-dilutive funding for its ultra-rare inherited retinal disease program. He highlights the challenges and advantages of this funding source, as well as the importance of establishing relationships with patient advocacy groups and foundations to mitigate risk and increase their attractiveness to traditional investors. The drive for non-dilutive funding for ultra-rare diseases is expected to become increasingly important in helping to get drugs to clinical trials. George explains, "Opus Genetics is a gene therapy company for eye disorders that occur in children. And these disorders are ultra-rare. It's 200 patients, a thousand patients per indication, and it's really good science. It's from Gene Bennett, who was the inventor of Luxturna, which was the first approved genetic medicine. And it does require some non-conventional thought on the financing, though, because these are so rare. And what we've done at Opus Genetics and have been really fortunate to be a part of is non-diluted funding from external sources. And that comes in the form of partnerships with patient families and organizations, like we just announced last week with RDH 12 Alliance." " It also comes with the Foundation Fighting Blindness, which has given us a number of grants and non-dilutive funding deals. And so those have been really important to Opus and have really helped us progress the programs. The way we think about that is the first principle is the clinical data we typically generate using our equity dollars. The preclinical work we try to do with non-dilutive funding, and that way we're able to focus on spending in rare scenarios." #OpusGenetics #RareDiseases #UltraRareDiseases #EyeDiseases #GeneTherapy #NonDilutiveFunding #Blindness #Ophthalmology opusgtx.com Download the transcript here

Miss America 2025 Abbie Stockard: A Champion for Kids, Health, and Cystic FibrosisAbbie Stockard, Miss America 2025, joins us to share her incredible journey, from Auburn University nursing student and Tiger Paws dancer to national advocate and role model. At just 22, Abbie has earned over $89,000 in scholarships through the Miss America Opportunity and is using her platform to promote pediatric health, women's leadership, and awareness for cystic fibrosis (CF).Inspired by her best friend Maddie, Abbie has raised over $200,000 for CF research and was honored as the Cystic Fibrosis Foundation's “2024 Hero of Hope.” She also created High Five for Kids, a wellness program that empowers children—including those with chronic illnesses, to build healthy habits for life.In this episode, Abbie talks about balancing school, service, and advocacy, and how she's using her voice to drive real change in healthcare and beyond. Don't miss this inspiring conversation with a young woman leading with heart, purpose, and unstoppable energy. Please like, subscribe, and comment on our podcasts!Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Watch our podcasts on YouTube: https://www.youtube.com/@laurabonnell1136/featuredThanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma and Biotech world. Robert F. Kennedy Jr. faced the Senate Finance Committee in a tense hearing amidst calls for the removal of the health secretary. The committee questioned Kennedy on his recent actions, including the firing of CDC director Susan Monarez. Meanwhile, the FDA's new rare disease pathway received mixed reactions, with some questioning its tangible impacts. AC Immune downsized and refocused its pipeline, while Kennedy proposed adding seven new vaccine advisors to the ACIP. Other news included successful RNA editing in an AATD study, demands for YouTube to remove anti-vaccine videos, and a new framework for rare disease approvals by the FDA. Thank you for tuning in to today's episode of Pharma and Biotech daily.

You are in for a dose of inspiration in this episode of Raise the Line as we introduce you to a rare disease patient who was a leading force in establishing the diagnosis for her own condition, who played a key role in launching the first phase three clinical trials for it, and who is now coordinating research into the disease and related disorders at one of the nation's top hospitals. Rebecca Salky, RN, was first afflicted at the age of four with MOGAD, an autoimmune disorder of the central nervous system that can cause paralysis, vision loss and seizures. In this fascinating conversation with host Lindsey Smith, Rebecca describes her long and challenging journey with MOGAD, her work at the Neuroimmunology Clinic and Research Lab at Massachusetts General Hospital, and the importance of finding a MOGAD community in her early twenties. “There's a sense of power and security when you have others on your side. You're not alone in this journey of the rare disease,” she explains. Be sure to stay tuned to learn about Rebecca's work in patient advocacy, her experience as a nurse, and the three things she thinks are missing in the care of rare disease patients as our Year of the Zebra series continues.Mentioned in this episode:The MOG ProjectNeuroimmunology Clinic & Research Lab at Mass General 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

This week, Dr. Joel Kahn shares the case of a patient at the Kahn Center diagnosed with ATTR cardiomyopathy, a serious disorder in which a protein (amyloid) infiltrates the heart and can be fatal. It is often associated with carpal tunnel syndrome, neuropathy, and spinal stenosis. Fortunately, exciting new therapies are now available. Other topics in this episode include the latest cholesterol guidelines, niacin and mood, Galleri cancer screening, “inflammaging” in native cultures, beta-blockers after heart attack, menopause and aging, and inflammation in women. Thanks to Igennus.com — use discount code DrKahn.

After years of carrying the weight of lead, Shannon and Cooper find a path out from under the darkness and into the sunlight.LEAD: how this story ends is up to us is an audio docudrama series that tells the true story of one child, his mysterious lead poisoning, and his mother's unwavering fight to keep him safe. A true story written by Shannon Burkett. Directed by Alan Taylor. Starring Merritt Wever, Alessandro Nivola, Cynthia Nixon, and Cooper Burkett.Lead was produced by Shannon Burkett. Co-produced by Jenny Maguire. Featuring Amy Acker, Tom Butler, Dennis T. Carnegie, James Carpinello, Geneva Carr, Dann Fink, Alice Kris, Adriane Lenox, Katie O'Sullivan, Greg Pirenti, Armando Riesco, Shirley Rumierk, Thom Sesma, and Lana Young. Music by Peter Salett. “Joy In Resistance” written by Abena Koomson-Davis and performed by Resistance Revival Chorus. Casting by Alaine Alldaffer and Lisa Donadio. Sound Design by Andy Kris. Recording Engineer Krissopher Chevannes.For corresponding visuals and more information on how to protect children from lead exposure please go to https://endleadpoisoning.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

What if a scan could do more than show you a picture, what if it could tell you a story about what's happening inside a child's body, in real time?That's exactly what Dr. Chris Flask is working to make possible.Dr. Flask is a Professor of Radiology, Biomedical Engineering, and Pediatrics at Case Western Reserve University and University Hospitals of Cleveland. He's at the forefront of an exciting transformation in medical imaging, one that could change the way we care for children with rare genetic diseases like cystic fibrosis (CF) and polycystic kidney disease (PKD).“Our goal is to turn imaging, instead of just image creation, into data,” says Dr. Flask. “We want to create numbers. So we can say, this is what's going on in the lungs. And when we put these patients on modulator therapies, we can see a 10 percent improvement in their lung disease. And similar responses in the pancreas, the liver, and the gut. That's our goal—quantifying it through this fingerprinting methodology.”This approach, MRI fingerprinting, is a revolutionary leap forward. Developed over the past decade at Case Western's MRI center, it's fast, accurate, and most importantly for kids: it requires no sedation, no radiation, and no contrast agents. Each image slice takes just 15 seconds, making it safer and more accessible for the most vulnerable patients.Dr. Flask's work is supported by the NIH, the Cystic Fibrosis Foundation, and an extraordinary 42-year collaboration with Siemens MRI. Together, they're paving the way for multi-center clinical trials using this technology to better understand disease progression and therapy outcomes.This episode is all about the intersection of science, innovation, and compassion, and the powerful impact of data-driven care.We're honored to welcome Dr. Flask to the show, although he prefers we call him Chris. You won't want to miss this deep dive into what's next for pediatric imaging and precision medicine.Share with anyone who's passionate about medical innovation, pediatric health, or rare disease research. Please like, subscribe, and comment on our podcasts!Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Watch our podcasts on YouTube: https://www.youtube.com/@laurabonnell1136/featuredThanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en

On today's episode of ‘Wait, How Do You Spell That? A Rare Disease podcast brought to you by Patient Worthy. We are thrilled to share with you a story that is as powerful as it is inspiring. Our guest today is Lisa Batista, author of the newly released memoir, "Falling: A Journey of Strength, Survival and Rising," which is now available on Amazon, Barnes & Noble, and through her website, labatista.com. Lisa grew up in Brooklyn, New York, where she navigated the challenges of a walking world while living with Spinal Muscular Atrophy, or SMA. SMA is a rare, genetic disorder that is categorized as weakness and disintegration of muscles due to the loss of neurons in the spinal cord that affects the control of muscle moment and gradually causes increased weakness and loss of muscle function. In her book, Lisa shares her extraordinary journey—one marked not only by the physical realities of SMA, but also by the misunderstandings she faced from those around her. Often dismissed or accused of laziness, Lisa endured a life shaped by both her diagnosis and the abuse and misfortune that came with not being believed. Despite her muscles growing weaker, Lisa found a path to strength and survival, ultimately rising above the obstacles she faced. Today, we'll dive into Lisa's story—her struggles, her resilience, and what she hopes readers will take away from her memoir. So, sit back, get comfortable, and join us for a conversation about courage, perseverance, and the power of being seen and heard. To find your copy of Lisa's book: Amazon - Amazon.com : falling a journey of strength Barnes & Noble - falling: the journey of strength, survival and rising | Barnes & Noble® Lisa's Website - Falling - A Journey of Strength, Survival and Rising To learn more about Patient Worthy and how you can be a guest on Wait, How Do You Spell That? please visit our website at PatientWorthy.com   

In this conversation, Wendy Chung discusses the evolution of understanding genetic conditions, particularly in relation to autism, and the role of Simons Searchlight in patient advocacy. She emphasizes the importance of community support, global inclusion, and the hope for future therapies. The conversation highlights the significance of family connections and the collective effort in advancing research and treatment options for neurodevelopmental disorders.takeaways The understanding of autism has evolved significantly over the years. Community support is crucial for families dealing with genetic conditions. Simon's Searchlight aims to leverage collective knowledge for better outcomes. Language equity is essential for global participation in research. The importance of early detection and intervention cannot be overstated. Families play a vital role in providing feedback for research. The future of treatments looks promising with ongoing research. Building a supportive community can lead to better advocacy for children. The collaboration among researchers worldwide enhances the potential for breakthroughs. Celebrating milestones like 15 years of Simons Searchlight fosters hope and motivation

“You have to love what you do, especially in healthcare, and the earlier you find that, the better. So that's why I love to see HOSA helping young people find what it is that they want to do,” says Dr. David Kelly, a fellow in oculofacial surgery at University of California San Francisco and HOSA's board chair. You can still hear the excitement in Dr. Kelly's voice describing his earliest experiences with HOSA -- a student led organization with 300,000 plus members that prepares future health professionals to become leaders in international health – even though they happened sixteen years ago when he was a sophomore in highschool. Through hundreds of competitive events and hands-on projects, HOSA creates a framework for developing skills in communication, professionalism and leadership starting in middle school. Programs are offered throughout highschool and college as well, which Dr. Kelly took advantage of before becoming an active alumnus and joining the HOSA board as a way of giving back to an organization that has given so much to him. Since taking the reins as board chair last year, one key focus has been preparing to mark HOSA's 50th anniversary in 2026. Dr. Kelly sees the occasion as not only an opportunity to celebrate what HOSA has accomplished, but to ensure it is positioned to continue helping the healthcare industry tackle important challenges in the future. Examples include chronic workforce shortages and improving how clinicians communicate with patients and team members.  Join host Lindsey Smith on this uplifting Raise the Line episode for an optimistic look at the next generation of healthcare leaders.Mentioned in this episode:HOSAHOSA Alumni Registration 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

Send us a textIn this episode of At-the-Bench, hosts David McCulley and Misty Good interview Dr. Jennifer Wambach, a neonatologist and researcher specializing in rare neonatal lung diseases. Dr. Wambach shares her journey into neonatology, her research on genetic lung diseases, and the importance of mentorship in developing future physician-scientists. The conversation also covers the Undiagnosed Diseases Network, current research on genetic lung diseases including ABCA3 deficiency, and the challenges faced in rare disease research. Dr. Wambach emphasizes the need for resilience and adaptability in scientific careers, offering valuable advice for early-career investigators.Support the showAs always, feel free to send us questions, comments, or suggestions to our email: nicupodcast@gmail.com. You can also contact the show through Instagram or Twitter, @nicupodcast. Or contact Ben and Daphna directly via their Twitter profiles: @drnicu and @doctordaphnamd. The papers discussed in today's episode are listed and timestamped on the webpage linked below. Enjoy!

Niamh Ní Hoireabhaird, Disability activist and freelance journalist, assesses the new strategy on rare diseases, published by the Department of Health.

How can biotech leaders navigate the complexities of neurodegenerative research while tackling today's funding challenges? In this episode, host Elaine Hamm, PhD, welcomes Vikas Sharma, PhD, Chief Business Officer at QurAlis, for an insightful conversation on innovation, leadership, and fundraising in the biotech sector. Drawing from his extensive experience with ALS and neurodegeneration research, Vikas shares lessons on balancing science with business, navigating board dynamics, and finding creative approaches to raise capital. In this episode, you'll discover: Why genetic insights are reshaping neurodegenerative research. How to creatively approach funding when investors are focused on lower-risk, later-stage opportunities. Practical strategies for balancing science, investors, and board relationships to drive biotech success. Tune in to gain actionable strategies and leadership lessons that can help you move your biotech forward with confidence. Links: Connect with Vikas Sharma, PhD, and check out QurAlis. Connect with Elaine Hamm, PhD, and learn about Tulane Medicine Business Development and the School of Medicine. Connect with Jason Adair, MBA, and Kevin Eggan, PhD. Connect with Ian McLachlan, BIO from the BAYOU producer. Check out BIO on the BAYOU and make plans to attend October 28 & 29, 2025. Learn more about BIO from the BAYOU - the podcast. Bio from the Bayou is a podcast that explores biotech innovation, business development, and healthcare outcomes in New Orleans & The Gulf South, connecting biotech companies, investors, and key opinion leaders to advance medicine, technology, and startup opportunities in the region.

The deficits from the lead poisoning continue to intensify, Shannon channels her anger and grief into holding the people who hurt her son responsible.LEAD how this story ends is up to us is a true story written and produced by Shannon Burkett. Co-produced by Jenny Maguire. Directed by Alan Taylor. Starring Merritt Wever, Alessandro Nivola, Cynthia Nixon, and Cooper Burkett.EP4 features Eboni Booth, Sasha Eden, Kevin Kane, April Matthis, Alysia Reiner, and Mandy Siegfried. Casting by Alaine Alldaffer and Lisa Donadio. Music by Peter Salett. Sound Design by Andy Kris. Recording Engineer Krissopher Chevannes.For corresponding visuals and more information on how to protect children from lead exposure please go to https://endleadpoisoning.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

RARE MAMAS RISING- EPISODE 51 The Making of Rare Mamas: Reflections on Writing and Rare Parenting In this episode of Rare Mamas Rising, host Nikki takes listeners behind the pages of her upcoming book, Rare Mamas, to share how the writing journey mirrored the rare parenting journey in powerful and unexpected ways. Through honest storytelling, she unpacks the highs, the lows, and the lessons that connect directly to life as a rare mama. She covers: ·       The hardest and easiest chapters to write — from reliving the grief of “D-Day” to finding hope in Rising to the Call, the chapter that inspired the name of this podcast. ·       The easiest and hardest parts of the process — how writing drew on Nikki's creativity, career, and even her improv training, while publishing tested her patience and reminded her of the difficulties of rare parenting. ·       Unexpected lessons in calling and community — the reminder that doing good doesn't mean it's easy, the importance of going back to your “why,” and the gift of community and sisterhood that makes the journey possible. Nikki's hope is that listeners hear their own stories reflected in these lessons, and that when you read this book, you feel that same sisterhood woven through every page, and the solidarity of a community that is rising together.   Links & Resources Mentioned: Join the Book Interest List: www.raremamas.com/book   CONNECT WITH NIKKI   Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com   PODCAST INFO podcast@raremamas.com

2025-08-22 Hosts Craig Lipset and Jane Myles hosted a conversation with Alpa Kushillani, VP of Customer Success & Delivery with Gooseberry Research and a rare disease advocate. Alpa shares her family's journey with Duchenne muscular dystrophy and how those experiences inspired her to create new solutions for patient-centered research.We explore the realities of clinical trial participation for rare disease families—from challenges in home healthcare and nurse training to the promise of digital health tools and decentralized approaches. Alpa highlights how Gooseberry Research is working to improve trial accessibility through specialized nurse training, stronger site communication, and partnerships with technology providers.The episode also touches on trial design hurdles, the need for meaningful endpoints, and the future of decentralized clinical trials. Episode Resources:DCT Market TrendResearch About a Novel, Home-Based Assessment for Duchenne Muscular DystrophyYou can join TGIF-DTRA Sessions live on LinkedIn Live on Friday's at 12:00 PM ET by checking out our LinkedIn. Follow the Decentralized Trials & Research Alliance (DTRA) on LinkedIn and X. Learn more about Membership options and our work at www.dtra.org.

As he finished his medical school exam, David Fajgenbaum felt off.  He walked down to the ER and checked himself in.  Soon he was in the ICU with multiple organ failure.  The only drug for his condition didn't work. He had months to live, if that.  If he was going to survive, he was going to have to find his own cure. Miraculously, he pulled it off in the nick of time. From that ordeal, he realized that our system of discovering and approving drugs is far from perfect, and that he might be able to use AI to find dozens, hundreds, even thousands of cures, hidden in plain sight, for as-yet untreatable diseases. EPISODE CREDITS:Reported by - Latif NasserProduced by - Maria Paz Gutiérrezwith mixing help from - Jeremy S. BloomFact-checking by - Natalie A. MiddletonVISIT:Everycure.org (https://www.everycure.org)EPISODE CITATIONS:Books -Blair Bigham -  Death Interrupted: How Modern Medicine is Complicating the Way We DieDavid Fajgenbaum - Chasing My Cure, (https://davidfajgenbaum.com/)Radiolab | Lateral Cuts:Check out Death Interrupted (https://radiolab.org/podcast/death-interrupted), a conversation with Blair Bigham about a worldview shifting change of heart.The Dirty Drug and the Ice Cream Tub (https://radiolab.org/podcast/dirty-drug-and-ice-cream-tub) to hear the crazy story about how Rapamycin was discovered.Signup for our newsletter!! It includes short essays, recommendations, and details about other ways to interact with the show. Sign up (https://radiolab.org/newsletter)!Radiolab is supported by listeners like you. Support Radiolab by becoming a member of The Lab (https://members.radiolab.org/) today.Follow our show on Instagram, Twitter and Facebook @radiolab, and share your thoughts with us by emailing radiolab@wnyc.org.Leadership support for Radiolab's science programming is provided by the Simons Foundation and the John Templeton Foundation. Foundational support for Radiolab was provided by the Alfred P. Sloan Foundation.

“We've been able to show that even by 30 days of age, we can predict with some accuracy if a child is going to have a diagnosis of autism,” says Dr. Geraldine Dawson, sharing one of the recent advancements in early diagnosis being aided by artificial intelligence.  Dr. Dawson -- a leading scholar in the field and founding director of the Duke Center for Autism and Brain Development – explains that an AI examination of a child's pattern of visits to medical specialists in its very early life is an objective diagnostic tool that can supplement the current subjective reports from parents which vary in reliability. Another objective diagnostic tool in development uses a smartphone app developed at Duke that takes video of babies watching images and applies AI-aided Computer Vision Analysis to measure for signs of autism. This enlightening Raise the Line conversation with host Lindsey Smith is loaded with the latest understandings about Autism Spectrum Disorder including advancements in early therapeutic interventions, the interplay of genetic and environmental factors, and the role of the mother's health and exposures during pregnancy. You'll learn as well about what Dawson sees as necessary societal shifts in how autism is perceived, the numerous factors contributing to a near tripling of diagnoses over the past two decades, and how early intervention and informed advocacy can make a meaningful difference in the lives of countless families.Mentioned in this episode:Duke Center for Autism and Brain Development 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

Tuberous Sclerosis Complex, epilepsy in children, and autism parenting—in this powerful episode, women's health coach and mom of four, Erin Trier, shares her family's eight-year journey to finally receiving a TSC diagnosis for her son, Brendan. She talks about the early seizures, navigating a rare genetic disorder, and managing the added challenges of autism and uncontrolled epilepsy. Erin opens up about the emotional and mental toll, the power of vulnerability, and the practical organization systems that help her family thrive—including her genius laundry strategy. She also shares why self-care, community connection, and support are essential for parents raising a medically complex child. You will not want to miss this episode. Resources Mentioned: Erin's website: www.erintrier.com Instagram Podcast: Empowered in Health

The effects of the neurotoxin are taking their toll on Cooper as Shannon desperately tries to navigate the severity of their new reality.LEAD how this story ends is up to us is a true story written and produced by Shannon Burkett. Co-produced by Jenny Maguire. Directed by Alan Taylor. Starring Merritt Wever, Alessandro Nivola, Cynthia Nixon, and Cooper Burkett.E43 features Jenny Maguire, JD Mollison, Laith Nakli, Deirdre O'Connell, Carolyn Baeumler, Zach Shaffer, and Monique Woodley. Casting by Alaine Alldaffer and Lisa Donadio. Music by Peter Salett. Sound Design by Andy Kris. Recording Engineer Krissopher Chevannes.For corresponding visuals and more information on how to protect children from lead exposure please go to https://endleadpoisoning.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

"Burnout and trauma are not mental illnesses. They live in your physiology. They live in your biology. They live very specifically in your nervous system,” Dr. Rola Hallam says with a conviction rooted in her own successful journey to overcome the effects of chronic stress she accumulated during many years on the frontlines of humanitarian crises in Syria and other conflict zones. Out of concern for the multitudes of health professionals who, like herself, spend years carrying the weight of their traumatic experiences without seeking help, or who pursue ineffective remedies for relieving it, Dr. Rola -- as she's known – has shifted her focus to being a trauma and burnout coach. Among her offerings is Beyond Burnout, a twelve-week program that includes multimedia content as well as live coaching and teaching about developing nervous system awareness and regulation. “Most wellness initiatives fail because they're not rewiring the nervous system to come out of survival mode and back into what is called the ventral-vagal state, which is our state of social connection and of healing and repair.” She also stresses that healing is not an individual pursuit, especially for providers who work in a relational field, and teaches about the benefits of borrowing from a colleagues' state of calm and offering them the same. Don't miss this insightful and giving conversation with host Lindsey Smith that covers Dr. Rola's wrenching experiences providing care in desperate conditions, the critically important distinction between empathy and compassion, and how empowering frontline workers to heal their trauma can uplift individuals and empower entire communities. Mentioned in this episode:Dr. Rola CoachingBeyond Burnout AssessmentCanDo - Humanitarian Aid 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

As the lead wreaks havoc on Cooper's development, Shannon searches for answers. Desperate to get a handle on what was happening to her son, she grabs onto a lifeboat - nursing school. Andy tries to piece together the past to make sense of the present.LEAD how this story ends is up to us is a true story written and produced by Shannon Burkett. Co-produced by Jenny Maguire. Directed by Alan Taylor. Starring Merritt Wever, Alessandro Nivola, Cynthia Nixon, and Cooper BurkettEP2 features Keith Nobbs and Frank Wood. Music by Peter Salett. Sound Design by Andy Kris. Recording Engineer Krissopher Chevannes. Casting by Alaine Alldaffer and Lisa Donadio.For corresponding visuals and more information on how to protect children from lead exposure please go to https://endleadpoisoning.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.