Podcasts about rare diseases

“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.

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 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 Download the transcript 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 Listen to the podcast 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.

“I always say that singing and performing was as much a part of my DNA as cystic fibrosis.” Julia RaeFrom the moment Julia Rae could speak, she was singing, and from the moment she could dream, she was already imagining a bigger stage. As her mother fondly recalls, at just two years old, Julia was watching Barney on TV and asked, “How do I get in there and do that with him?” That instinct, that pull toward performance, was never just about the spotlight. For Julia Rae, the stage became her sanctuary, and later, her platform for purpose.Diagnosed with cystic fibrosis at birth, Julia's life has never followed an easy script. But instead of letting a chronic illness limit her, she embraced the full range of her voice, as a singer, actress, writer, and advocate. She didn't just want to perform; she wanted to make a difference.At 16, Julia founded Singing at the Top of My Lungs, a nonprofit inspired by her own hospital experiences. Initially, the organization supported both CF research and creative therapies at children's hospitals. But as larger institutions took a stronger lead in research, Julia saw a growing gap elsewhere.“I've decided to devote all of Singing at the Top of My Lungs to music and creative art therapies... They are significantly underfunded, not covered by insurance, and they are often, honestly, the unsung heroes of children's hospitals.”Julia's foundation now champions music and art therapies — the very programs that once transformed her own stays in sterile hospital rooms into spaces of joy and creativity. She knows firsthand that healing isn't just about medicine — it's also about expression, play, and being seen as more than your diagnosis.Her own career blossomed when a YouTube performance caught the attention of a Beverly Hills record producer, leading to her single “Be That Girl” being featured in the film The Greening of Whitney Brown. She's since performed the national anthem at major sports arenas, starred in national commercials, and most recently, in the 2024 film Playing Through. Her appearance on ABC's Listen to Your Heart introduced her to a national audience, but she never let fame outshine her mission.In parallel with her artistic pursuits, Julia has become a tireless advocate. She co-created and hosted Making It Matterwith the Boomer Esiason Foundation, currently leads Uncommon Lungs with Vertex Pharmaceuticals, and recently launched a podcast called A Deeper Look, spotlighting bold, thoughtful conversations with inspiring women.Julia Rae is more than a performer, she's a force. Her life is a testament to what happens when passion meets purpose, and when a voice refuses to be silenced by circumstance.For the chronic illness community, and for anyone who's ever been told “you can't” — Julia's story sings a different tune.She's not just making music. She's making it matter. 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

"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

Alexion recently launched the second film in its Rare Connections series, Rare Connections in gMG.Managing editor Jack O'Brien talks with Christophe Hotermans, Alexion's head of global medical affairs, about the multimedia effort to raise the profile of gMG.For this week's MM+M Fast Break, Hotermans discusses the drugmaker's latest rare disease-focused film. Step into the future of health media at the MM+M Media Summit on October 30th, 2025 live in NYC! Join top voices in pharma marketing for a full day of forward-thinking discussions on AI, streaming, retail media, and more. Explore the latest in omnichannel strategy, personalization, media trust, and data privacy—all under one roof. Don't wait—use promo code PODCAST for $100 off your individual ticket. Click here to register! AI Deciphered is back—live in New York City this November 13th.Join leaders from brands, agencies, and platforms for a future-focused conversation on how AI is transforming media, marketing, and the retail experience. Ready to future-proof your strategy? Secure your spot now at aidecipheredsummit.com. Use code POD at check out for $100 your ticket! Check us out at: mmm-online.com Follow us: YouTube: @MMM-onlineTikTok: @MMMnewsInstagram: @MMMnewsonlineTwitter/X: @MMMnewsLinkedIn: MM+M To read more of the most timely, balanced and original reporting in medical marketing, subscribe here.Music: “Deep Reflection” by DP and Triple Scoop Music.

On this edition of The Mark White Show, Dr. Adam Friedman, Professor and Chair of Dermatology at The George Washington University School of Medicine & Health Sciences, shares the critical differences between generalized pustular psoriasis (GPP) and the more common plaque psoriasis, and why timely diagnosis and awareness can save lives. Then, Jamie Harding, Associate State Director for AARP Alabama, joins me to mark the 90th anniversary of Social Security, discuss the program's impact on millions of Americans, and share how we can work together to protect and strengthen it for generations to come.

Dr. Carole Keim welcomes Dr. David Tegay, DO, to The Baby Manual to talk about genetics, the different types of testing and screening involved in genetics, and how it's a key part of pediatric medicine. Dr. Tegay was in residency when he encountered a patient who required a consult from a clinical geneticist from Mount Sinai, and the experience fascinated him so much that he moved from his internal medicine residency to a fellowship in genetics. He discusses all aspects of his field with Dr. Keim. One of the first things Dr. Tegay explains about genetic testing is that most genetic tests are no different than other routine laboratory testing, using a blood sample or even a non-invasive cheek swab or saliva sample to do the testing. It's the results that are different from other testing. He and Dr. Keim discuss how prenatal genetic testing has developed, what kind of screening might occur during pregnancy, and the types of conditions a geneticist may be looking for. Dr. Tegay sheds light on the truth of birth defects, or congenital anomalies, and how frequently they may occur, including how many are not necessarily significant. The conversation exploring DNA, genetics, and exome sequencing, and the diseases or conditions such testing may reveal, is both enlightening and informative, explaining methodology and treatment for fetal and newborn ailments.Dr. David Tegay, DO, FACMG, FACOI:Dr. David Tegay, DO, is a clinical geneticist in Great Neck, NY and has over 25 years of experience in the medical field. He specializes in the areas of Clinical Genetics and Genomics & Internal Medicine. Dr. Tegay graduated from New York Institute of Technology College of Osteopathic Medicine in 1997. He is affiliated with the medical facilities North Shore University Hospital and St. Mary's Hospital Amsterdam.__ Resources discussed in this episode:The Holistic Mamas Handbook is available on AmazonThe Baby Manual is also available on Amazon__Contact Dr. Carole Keim MDlinktree | tiktok | instagram Contact Dr. David Tegay, DO, FACMG, FACOIlinkedin

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.

In this episode, we're joined by Karen Durrant, founder of the Autoinflammatory Alliance, who shares her powerful journey from a determined parent seeking a diagnosis for her child to the leader of a global patient advocacy movement. What began as a personal quest has evolved into an international network supporting thousands affected by autoinflammatory diseases. Karen discusses how her collaboration with Dr. Fatma Dedeoglu, a leading pediatric rheumatologist, helped bridge the gap between patient experience and medical research—ultimately contributing to the development of international clinical guidelines that are transforming care for rare disease patients worldwide. 

People tend to associate an illness with something unpleasant and often dangerous, and they have their reasons to think so. But there are some diseases which, unlike a common cold, look like superpowers. At least at first sight. In this video, you will get acquainted with some of them. These rare diseases not only leave scientists confused but also make their carriers similar to superheroes! Have you caught a cold? Oh, how unlucky! All these nasty symptoms again: a runny nose, non-stop coughing, and also, it hurts to eat! But you know what? Quit nagging! Your illness will pass in (about) a week. But imagine the life of those who suffer from chronic diseases! TIMESTAMPS Super memory 1:06 Insensibility to pain 2:28 Abilities to literally anything 3:47 Insensitivity to cold 5:01 The complete absence of fear 5:58 The Vampire disorder 7:03 Octopus people 8:38 Stone Man Syndrome 9:38 Werewolf Syndrome 10:20 Foreign accent syndrome 11:21 Subscribe to Bright Side : https://goo.gl/rQTJZz ---------------------------------------------------------------------------------------- Our Social Media: Facebook: / brightside Instagram: / brightgram SMART Youtube: https://goo.gl/JTfP6L 5-Minute Crafts Youtube: https://www.goo.gl/8JVmuC Have you ever seen a talking slime? Here he is – Slick Slime Sam: https://goo.gl/zarVZo ---------------------------------------------------------------------------------------- For more videos and articles visit: http://www.brightside.me/ Learn more about your ad choices. Visit megaphone.fm/adchoices

What happens when a rare disease diagnosis changes everything? When you're told your child will never walk, never talk. On this episode, we learn about Rett Syndrome and sit down with a parent who became his daughter's fiercest champion and a patient advocate committed to giving these families hope. Join us for an inspiring conversation about finding strength, building community, and living life to the fullest.To go behind the scenes and learn more about this episode, visit “Turning Pain Into Purpose: Advocating for Families with Rett Syndrome.”Thanks for listening! We're now on YouTube- follow us here. To receive episode updates and bonus material, subscribe to our mailing list here.

“Seeing that you can get through the most difficult times in life, succeed, and then also return to your community and work in service to your community was a lesson that has stuck with me,” says Dr. Uche Blackstock, the Founder and CEO of Advancing Health Equity and our guest on this inspiring episode of Raise the Line with Osmosis from Elsevier. It was a lesson the Harvard-trained physician learned from her own mother – also a Harvard trained physician – who overcame poverty, sexism and racial bias to forge an inspiring path.  In her bestselling book, Legacy: A Black Physician Reckons with Racism in Medicine, Dr. Blackstock weaves her mother's remarkable story with her own and argues for systemic change in a healthcare system riddled with racially-biased practices and policies that impact patient outcomes. As she explains to host Lindsey Smith, Advancing Health Equity's work to drive measurable and sustainable change is focused on embedding equity as a core value in the leadership, strategy, and organizational practice of health systems. “We exist to challenge inequities, empower underrepresented communities, and help build a healthcare system where everyone can thrive.” Don't miss a thought-provoking conversation with a nationally respected voice that also addresses race correction factors that impact the care of Black patients, and the work required of health institutions to build trust in effected communities.Mentioned in this episode:Advancing Health EquityLegacy: A Black Physician Reckons with Racism in 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/raisethelinepodcast

A mysterious dust fills a young family's apartment. The truth begins to unravel when the mother gets a call from the pediatrician - the monster deep within the walls has been unleashed. 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. EP1 features Zak Orth, Jenny Maguire, Daphne Gaines, and Micheal Gaston. 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.

Send us a textIn this episode, we sit down with Dr. Garabet Yeretssian, PhD, Senior Program Manager at the Chan Zuckerberg Initiative (CZI), to discuss how collaborative infrastructure and emerging technologies are reshaping research into necrotizing enterocolitis (NEC). Garabet shares how his background in GI inflammation and rare diseases led him to focus on cross-disciplinary research support, including CZI's Rare As One Network and its emphasis on patient-led science.We explore how tools like single-cell transcriptomics, organoid modeling, and AI-driven biomarker discovery are helping scientists better understand NEC pathophysiology — and potentially identify early risk markers. Garabet also talks about the growing effort to bridge the gap between adult GI research and neonatal care, and how aligning researchers, clinicians, and families can accelerate progress in diagnosis, prevention, and treatment.The episode highlights CZI's funding approach, which requires genuine collaboration with patient organizations, and outlines strategies for researchers and clinicians to engage with private funders. For those attending the NEXT Symposium, Garabet previews his role in sessions focused on inflammation, translational science, and scalable technologies.Listeners can learn more and register for the 2025 NEXT Symposium at nextsociety.org using promo code incubator for 10% off. 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!

“Pandemics are a political choice. We will not be able to prevent every disease outbreak or epidemic but we can prevent an epidemic from becoming a pandemic,” says Dr. Joanne Liu, the former International President of Médecins Sans Frontières/Doctors Without Borders and a professor in the School of Population and Global Health at McGill University. You are in for a lot of that sort of frank and clear-eyed analysis in this episode of Raise the Line from Dr. Liu, whose perspective is rooted in decades of experience providing medical care on the frontlines of major humanitarian and health crises across the globe, as well as wrangling with world leaders to produce more effective responses to those crises and to stop attacks on medical facilities and aid workers in conflict zones. Firsthand accounts from the bedside to the halls of power are captured in her new book Ebola, Bombs and Migrants, which focuses on the most significant issues during her tenure leading MSF from 2013-2019.  The book also contains insights about the geopolitical realities that hamper this work, including lax enforcement of international humanitarian law, and a focus on national security that erodes global solidarity. Join host Lindsey Smith as she interviews this leading voice on our preparedness to meet the needs of those impacted by violent conflict, forced migration, natural disasters, disease outbreaks and other grave challenges. 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

Lexi Silver is 15 years old. She lost both of her parents before she turned 11. That should tell you enough—but it doesn't. Because Lexi isn't here for your pity. She's not a sob story. She's not a trauma statistic. She's a writer, an advocate, and one of the most emotionally intelligent people you'll ever hear speak into a microphone.In this episode, Lexi breaks down what grief actually feels like when you're a kid and the adults around you just don't get it. She talks about losing her mom on Christmas morning, her dad nine months later, how the system let her down, and how Instagram trolls tell her she's faking it for attention. She also explains why she writes, what Experience Camps gave her, how she channels anger into poems, and what to say—and not say—to someone grieving.Her life isn't a Netflix drama. But it should be.And by the way, she's not “so strong.” She's just human. You'll never forget this conversation.RELATED LINKS• Lexi on Instagram: @meet.my.grief• Buy her book: The Girl Behind Grief's Shadow• Experience CampsFEEDBACKLike 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.

“As parents dedicated to getting a treatment for our children in their lifetimes, we have turned the rare disease drug development landscape upside down and created a new model,” says Nicole Johnson, co-founder and executive director of the FOXG1 Research Foundation.  That's not an exaggeration, as the foundation is on track to make history as it begins patient clinical trials on a gene replacement therapy next year. The former TV news producer and media executive unexpectedly entered the world of patient advocacy and drug research after her daughter, Josie, was born with FOXG1, a genetic disorder which causes severe seizures and impedes normal movement, speech, and sleep among other problems. Johnson is also making an impact in another important dimension of the rare disease space in her efforts to educate parents, teachers, and students about disability inclusion through her Joyfully Josie book series and “Live Joyfully” education programs. Tune-in to this fascinating Year of the Zebra conversation with host Lindsey Smith to find out how the foundation is aiming to bring a drug to market in less than half the time and at a fraction of the cost than the industry standard, and how this model might impact research on other rare disorders. Mentioned in this episode:FOXG1 Research FoundationJoyfully Josie 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/raisethelinepodcast

RARE MAMAS RISING- EPISODE 50 Introducing Rare Mamas: A Rare Disease Parenting Book by Nikki McIntosh Nikki McIntosh—rare disease mom, advocate, caregiver, and founder of Rare Mamas—shares her biggest news yet: the upcoming release of her debut book, Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease, launching September 23rd. This heartfelt and practical rare disease parenting book is written for mothers of children with rare diseases who are navigating the overwhelming world of rare diagnoses, caregiving responsibilities, and medical advocacy. Tune in to hear the emotional story behind the book, what's inside, and how you can be part of this powerful movement of support, strength, and sisterhood for rare disease moms. In this episode, Nikki shares: Why she wrote Rare Mamas, a first-of-its-kind resource for moms raising children with rare diseases What's inside the book (28 chapters packed with caregiver tools, advocacy strategies, emotional support, and stories from lived experience) How she kept writing through surgeries, hospital stays, exhaustion, and uncertainty What this guide offers for parents of medically complex children—including guidance on healthcare, education, systems, and self-care How to join the Rare Mamas Book Interest List and help share this support resource with the broader rare disease community Links & Resources Mentioned: Join the Book Interest List: www.raremamas.com/book Follow on Instagram: @rare_mamas Become a Rare Mamas Ambassador – DM @rare_mamas or email nikki@raremamas.com to get involved   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 Mission Matters episode, Adam Torres interviews Karen Ho, Founder and CEO of Lumina BioConsulting, about her mission to fast-track therapies for pediatric rare diseases. Drawing on personal experience and deep scientific expertise, Karen explains how cutting-edge biotech and regulatory flexibility are opening new doors for children previously left without options. This interview is part of the Milken Global Conference coverage by Mission Matters. Big thanks to the ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Milken Institute⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ for inviting us to cover the conference. Follow Adam on Instagram at ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://www.instagram.com/askadamtorres/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ for up to date information on book releases and tour schedule. Apply to be a guest on our podcast: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://missionmatters.lpages.co/podcastguest/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Visit our website: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://missionmatters.com/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠More FREE content from Mission Matters here: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://linktr.ee/missionmattersmedia Learn more about your ad choices. Visit podcastchoices.com/adchoices

Michelle Andrews built a career inside the pharma machine long before anyone knew what “DTC” meant. She helped launch Rituxan and watched Allegra commercials teach America how to ask for pills by name. Then she landed in the cancer fun house herself, stage 4 breast cancer, and learned exactly how hollow all the “journey” slide decks feel when you're the one circling the drain.We talk about what happens when the insider becomes the customer, why pill organizers and wheat field brochures still piss her off, and how she fired doctors who couldn't handle her will to live. You'll hear about the dawn of pharma advertising, the pre-Google advocacy hustle, and what she wants every brand team to finally admit about patient experience.If you've ever wondered who decided windsurfing was the best way to sell allergy meds—or what happens when you stop caring if you make people uncomfortable—listen up.RELATED LINKSMichelle Andrews on LinkedInTrinity Life Sciences – Strategic AdvisoryJade Magazine – Ticking Time Bombs ArticleNIHCM Foundation – Breast Cancer StoryFEEDBACKLike 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.

Today on Raise the Line, we bring you the unlikely and inspiring story of a woman who was afraid of blood as a child but became an accomplished nurse; who struggled with learning disabilities but became an effective educator; and who, despite lacking business experience or knowledge of graphics, built a successful company that produces visually rich educational materials for nurses and other providers. “I think the theme of my life has been I have struggled with learning, and I didn't want other people to struggle,” says Jennifer Zahourek, RN, the founder and CEO of RekMed which has developed a sequential, interactive learning system that includes illustrated planners, books, and videos used by millions of students and providers. The initial focus was to provide nurses with everything they needed to know from “the basics to the bedside” but RekMed now offers content for medics, respiratory therapists, medical assistants, and veterinarians as well. Driven by her belief in the power of visual learning and her “just freakin' do it” attitude, Jennifer overcame her fear of launching a business and quickly realized just how well nursing had prepared her for the hard work and unpredictability of entrepreneurship. “Nursing teaches you how to just be resilient, to pivot, to delegate, to work on a team and to handle high stress. I think nurses could literally be some of the best entrepreneurs on the planet,” she tells host Lindsey Smith. Tune in to this lively and valuable conversation as Jennifer shares lessons from bootstrapping a publishing company, insights on the evolving landscape of healthcare education, and advice on embracing change in nursing, especially with the expanding role of AI. Mentioned in this episode:RekMed 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

Dr. Anne Marie Morse walks into the studio like a one-woman Jersey Broadway show and leaves behind the best damn TED Talk you've never heard. She's a neurologist, sleep medicine doc, narcolepsy expert, founder of D.A.M.M. Good Sleep, and full-time myth buster in a white coat. We talk about why sleep isn't a luxury, why your mattress does matter, and how melatonin is the new Flintstones vitamin with a marketing budget. We unpack the BS around sleep hygiene, blow up the medical gaslighting around “disorders,” and dig into how a former aspiring butterfly became one of the loudest voices for patient-centered science. Also: naps, kids, burnout, CPAPs, co-sleeping, airport pods, the DeLorean, and Carl Sagan. If you think you're getting by on five hours of sleep and vibes, you're not. This episode will make you want to take a nap—and then call your doctor.RELATED LINKSdammgoodsleep.com: https://www.dammgoodsleep.comLinkedIn: https://www.linkedin.com/in/anne-marie-morse-753b2821/Instagram: https://www.instagram.com/dammgoodsleepDocWire News Author Page: https://www.docwirenews.com/author/anne-marie-morseSleep Review Interview: https://sleepreviewmag.com/practice-management/marketing/word-of-mouth/sleep-advocacy-anne-marie-morse/Geisinger Bio: https://providers.geisinger.org/provider/anne-marie-morse/756868SWHR Profile: https://swhr.org/team/anne-marie-morse-do-faasm/FEEDBACKLike 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.