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Episode 135: of the American Grown Podcast in the Colortech Creative Solutions studios with Luke Hains Spine Specialist & Advocate for Duchenne Muscular Dystrophy.In this episode, I sit down with my cousin Luke Hains, a spine specialist for VB Spine. Luke opens up about growing up in Lebanon, PA, and how his younger brother's battle with Duchenne Muscular Dystrophy shaped his purpose. From working in medical tech to running marathons and raising awareness, Luke's story is driven by one thing: showing up for the people you love.To learn more about Duchenne Muscular Dystrophy click here: https://www.mda.org/disease/duchenne-muscular-dystrophySHOW SPONSORS:College Knowledge Foundation. Your path to higher education.A&M Pizza. Authentic Italian quality meals.Boyer's Tavern. Proper food & drinks made by slightly improper people.Triggered 22. Support a local veteran and help spread awareness for PTSD & #22aday.Cleona Coffee Roasters. A small batch coffee roastery & coffee shop, veteran & first responder owned located inside 911 Rapid Response in Annville PA.Modern Gent Customs. We don't make basics...We make statements.Hains Auto Detailing. Have your car smiling from wheel to wheel.Hossler Engraving. Looking for unique handcrafted gifts for all occasions Zach has you covered.Angelo's Pizza. Enjoy mouthwatering Italian dinners.Take a sip or snack break.SIP: Garage Beer.SNACK: Jurgy.OFFICIAL STUDIO SPONSOR: Colortech Creative Solutions. Colortech Creative Solutions takes your creative projects from visualization to realization. We've been doing so since 1980 all while keeping your budget in mind.To see photos of today's guest follow our Social media: IG- https://www.instagram.com/americangrownpodcast/ FB-https://www.facebook.com/profile.php?id=100077655465940 or visits us at https://rss.com/podcasts/americangrownpodcast/
Dr. Jamie Wells is back—and this time, she brought a book. We cover everything from biomedical design screwups to the glorified billing software known as the EHR. Jamie's new book, A Clinical Lens on Pediatric Engineering, is a masterclass in what happens when you stop treating kids like small, drunk adults and start designing medicine around actual human factors. We talk about AI in pediatric radiology, why drug repurposing might save lives faster than biotech IPOs, and the absurdity of thinking one-size-fits-all in healthcare still works.Jamie's a former physician, a health policy disruptor, a bioethicist, an MIT director, and a recovering adjunct professor. She's also a unicorn. We dig into the wonk, throw shade at bad design, and channel our inner Lisa Simpsons. This one's for anyone who ever wondered why kids' hospitals feel like hell and why “make it taste like bubblegum” might be the most important clinical innovation of all time. You'll laugh, you'll learn, and you might get angry enough to fix something.RELATED LINKSJamie Wells on LinkedInBook: A Clinical Lens on Pediatric Engineering (Amazon)Book on SpringerDrexel BioMed ProfileGlobal Blockchain Business CouncilJamie's HuffPost ArticlesFEEDBACKLike 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.
“[Rare Diseases Research] deserves to be celebrated the same way that we celebrate athletes and sports in this country.” “Giving is the greatest form of getting.” “You always have a chance to positively impact other people, it's just a matter of what you do with the moments you have.” Episode summary | In this episode of ROG, Shannon Cassidy interviews Brett Brackett, the executive director of Uplifting Athletes, who shares his journey from being a college and NFL athlete to leading a nonprofit focused on supporting the rare disease community. Brett discusses the importance of generosity, the impact of rare diseases, and how Uplifting Athletes engages college athletes in philanthropy. He emphasizes the power of community, the significance of research in rare diseases, and the misconceptions surrounding athletes. The conversation highlights the importance of using one's platform for good and the profound impact of giving back. R.O.G. Takeaway Tips | Generosity can take many forms, including time, talent, and treasure. The average path to diagnosis for rare diseases is 3-5 years. One in ten Americans is affected by a rare disease. Uplifting Athletes hosts events to raise awareness and funds for rare diseases. The Young Investigator Draft celebrates researchers in rare disease research. Athletes often use their platforms to give back to the community. Misconceptions about athletes often overlook their generosity and impact. Success is defined individually, not by external standards. Chapters | 00:00 Introduction to Generosity and Leadership 02:27 Brett Brackett's Journey from Athlete to Advocate 05:32 The Importance of Family and Support Systems 07:27 Uplifting Athletes: Mission and Impact 12:26 Understanding Rare Diseases 16:14 Events and Community Engagement 20:28 Stories of Generosity and Giving Back 25:14 The Power of Generosity 30:20 Misconceptions About Athletes 31:49 The Penn State Experience 33:49 Impacting Lives Through Generosity 35:18 Lessons from Football and Life 39:19 Leadership and Personal Growth Guest Bio | Brett Brackett is a New Jersey native whose passion for helping others has guided him to make a lasting impact on the rare disease community. Through his athletic career and now with Uplifting Athletes, Brett has used the platform of sport to inspire hope, raise awareness, and drive change for those impacted by rare diseases. An exceptional athlete, Brett transitioned from being a top-rated quarterback in high school to a standout wide receiver and co-captain at Penn State, where he earned degrees in Marketing and Economics. His professional football career saw him thrive as an undrafted tight end with teams such as the Miami Dolphins, Philadelphia Eagles, Jacksonville Jaguars, Tennessee Titans, and Seattle Seahawks. In 2017, Brett joined Uplifting Athletes full-time as Chapter Success Manager, where his leadership and experience in sports helped expand the organization's reach. His deep commitment and strategic vision led him to step into an organizational leadership role in 2018. Since then the organization has funded over $1.2 million in rare disease research grants, hosted over 2,000 individuals impacted by rare disease for one-of-kind Uplifting Experiences and developed 450 student-athletes who have been trained to serve people impacted by rare diseases through Uplifting Athletes' programming. Brett lives in Pennsylvania with his wife Jamie and their four children. Guest Resources: www.upliftingathletes.org Instagram: @UpliftingAthletes LinkedIn: /Uplifting-Athletes X: @UpliftingAth Facebook: UpliftingAthletes Bridge Between Resources: 5 Degree Change Course Free N.D.I. Network Diversity Index Free Generosity Quiz Credits: Brett Brackett, Host Shannon Cassidy, Bridge Between, Inc. Coming Next: Please join us next week, Episode 238, Special Guest, Linda Shively.
"Oh, the people you'll meet, and the places you'll go..."That classic Dr. Seuss line couldn't have been more true when I found myself at a rare disease conference, taking with Dr. Gabriel Cohn. A quiet presence with a resume that reads like a roadmap through the last 30 years of rare disease breakthroughs, Dr. Cohn is the kind of person who reminds you just how much heart and science it takes to change lives.Dr. Gabe Cohn is the Executive Director and Medical Director of the Rosenau Family Research Foundation. He stepped into the role in October, bringing with him over three decades of experience that spans academic medicine and the biotechnology industry. A licensed, board-certified Clinical Geneticist and Obstetrician-Gynecologist, Dr. Cohn has contributed to the development of multiple therapeutics aimed at treating rare genetic disorders—a career built on both clinical precision and compassionate innovation.Beyond RFRF, he's also the Chief Medical Officer at iECURE, Inc., a biotech company pioneering gene editing therapies for rare diseases. His prior leadership roles at Homology Medicines, AVROBIO, OvaScience, and Shire reflect a steady focus on advancing gene therapy and editing platforms. Since 2017 alone, he's played a pivotal role in getting five different cell and gene therapy programs past the critical regulatory gatekeeping stages of IND and CTA submissions.Dr. Cohn isn't just a scientist—he's a builder, a connector, and a relentless advocate for the potential of genetic medicine to rewrite the future for patients with rare diseases.If you would like to get a hold of the Rosenau Foundation: https://rosenaufoundation.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
How do you lead at the cutting edge of health, data, and AI—while staying deeply human?Angeli Möller has led global data science teams across pharma giants, co-founded one of Europe's most ambitious AI alliances, and now builds high-performance biotech strategies with precision. But what truly sets her apart isn't just her technical fluency—it's her clarity, courage, and care in how she builds teams, solves problems, and pushes the boundaries of innovation.In this episode, Angeli opens up about the quiet frustrations that fuel her mission, the invisible cost of ignoring innovation, and the principles that guide her client work today. Whether you're an investor, founder, or policymaker, her journey will reshape how you think about leadership, AI, and what truly moves the needle in healthcare.Here's what you'll take away:Why most AI projects fail—and how to spot the ones that won't.How to lead technical teams with vision, warmth, and accountability.Why proprietary data matters more than fancy algorithms.What real innovation feels like—and how to know when you're missing it.At the center of it all: a calm, fiercely smart leader who sees through the noise and builds what matters.As she says: “Start with the real problem. If you don't understand the problem, AI won't help you.”Timestamps & Topics
ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich's Ataxia Kyle was diagnosed with Friedreich's Ataxia at age 17. It's a disease that affects balance and coordination and has symptoms of scoliosis, vision loss, hearing loss and life-shortening heart complications. At the time he was diagnosed, he ignored that his future would be much different than what he'd imagined. After a few years, he wanted to take a cross-country bike ride. Kyle reads a page from his book about how he convinced his parents to join him. Jennifer Siedman, Mother to Ben Jennifer loved a little boy with a rare disease called Sanfilippo Syndrome. That boy graced this Earth for 17 years with a big lion roar of a laugh and a gentle heart. He loved farms, tractors, baseball and chocolate donuts. His quiet determination convinced a researcher to pursue a treatment and because of it, there are other children today with Sanfilippo Syndrome who's future might look different than his. Jennifer knows who she is today because she was Ben's mother. Jennifer shares a story of her mother-in-law who, through her own determination, modeled the skills she would need to be the best mother and advocate she could be to Ben. Liz Morris, Mother to Colson The Pacific Northwest is abundantly beautiful. Seattle's true appeal is in it's wild spaces. Carkeek Park in northern Seattle is one of Liz's favorites with organic healing powers she needs. Trails lead through the lush woods, there's an expansive shoreline with built-in driftwood seating and open green hills overlooking the sea and mountains. Liz and her husband sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked of their future. They talked of the future they wanted for their future child, which Liz was six months pregnant with. Colson was born in October 2016. He was impacted by mitochondrial disease, a genetic disorder that compromised his body's ability to turn food into energy. Liz shares a story of living with enough. Ashley Fortney, Mother to Davis In 2014, Ashley welcomed her son Davis into the world after a difficult pregnancy filled with many hospitalizations and much worry. From the start, the doctors thought there might be something different about Davis. Davis was diagnosed with Koolen-de Vries syndrome at age 7, but he's continued to grow, learn and prove that nothing can stop him. Ashley shares all the ways that Davis has helped the family grow and find support from others in the community and all the ways he makes the world a better place. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
"It was pretty apparent to me that something was going on with him," says Kristi Levine, describing the realization that, based on her experience as a Montessori teacher, her infant son, Trey, was missing developmental milestones. Unfortunately, Kristi's hunch turned out to be correct and Trey was later diagnosed with a rare genetic mutation called CACNA1A which is impacting his motor skills, balance, coordination and speech. Kristi and her husband, Eric, join host Michael Carrese on this installment in our Year of the Zebraseries to help us understand the disorder and its implications for Trey and their family, which includes Trey's older sister Stella. “There's a lot of guilt involved in being a parent of a child who has a disability because you never feel like you're doing enough,” shares Eric, even though they both work full time and have becoming experts at juggling work, caregiving, advocating, and volunteering with the CACNA1A Foundation. In this candid interview, Eric and Kristi discuss the challenges of parenting a child with complex medical needs, the importance of community support, the ongoing search for treatment options, and share some advice for clinicians caring for patients and families living with rare disorders. “We just want medical professionals to respect and understand what we're dealing with on a day-to-day basis and to see our kids holistically, and not just try to fix the problem medically. Understand that for us, the biggest thing that we want for our kids is just their quality of life.”Mentioned in this episode:CACNA1A Foundation 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
The Hidden Lightness with Jimmy Hinton – Hudson's pediatrician initially dismissed the signs that Twyla spotted. But his mom, listening to the voice of someone who knew her child day in and day out, pressed further. That decision, sparked by a teacher's concern, opened the door to an early diagnosis of adrenoleukodystrophy (ALD) — a rare and...
Erica Campbell walked away from corporate life, took a hard left from the British Embassy, and found her calling writing checks for families nobody else sees. As Executive Director of Pinky Swear Foundation, she doesn't waste time on fluff. Her team pays rent, fills gas tanks, and gives sick kids' parents the one thing they don't have—time. Then, breast cancer hit her. She became the patient. Wrote a book about it. Didn't sugarcoat a damn thing. We talk about parking fees, grief, nonprofit burnout, and how the hell you decide which families get help and which don't. Also: AOL handles, John Hughes, and letters from strangers that make you cry. Erica is part Punky Brewster, part Rosie the Robot, and part Lisa Simpson—with just enough GenX Long Island sarcasm to make it all land. This one sticks.RELATED LINKSPinky Swear FoundationThe Mastectomy I Always Wanted (Book)Erica on LinkedInThink & Link: Erica Campbell“Like the Tale of a Starfish” - Blog Post“Cancer Diagnosis, Messy Life, Financial Support” - Blog PostFEEDBACKLike 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.
Translational trends at this year's ASCO meeting featured new and selective ways to target cell surface receptors on solid tumors. On the latest BioCentury This Week podcast, BioCentury's analysts discuss the findings from Executive Director of Biopharma Intelligence Lauren Martz's deep dive into first-in-human studies at the American Society of Clinical Oncology meeting, including how immunocytokines, solid tumor CAR Ts and Chinese innovation are thriving in early trials.The analysts also examine the signs of strain and resilience in biotech's crossover investors, as well as FDA's plans for revamping rare disease regulation. This episode of BioCentury This Week was sponsored by ICON Biotech.View full story: https://www.biocentury.com/article/656139#biotech #biopharma #pharma #lifescience #RandD #DrugDevelopment00:01 - Sponsor Message: ICON Biotech02:11 - ASCO's First-in-Human Trials12:46 - Crossover Investor Health Check22:54 - FDA's Rare Disease PlansTo submit a question to BioCentury's editors, email the BioCentury This Week team at podcasts@biocentury.com.Reach us by sending a text
In this special episode (#34) of BioTalk Unzipped, recorded live at the AAPS NBC conference in Boston, Gregory Austin and Dr. Chad Briscoe sit down with AAPS President Dr. Russ Weiner for an unfiltered look inside AAPS NBC, at the state of rare disease research, the evolution of therapeutic modalities, and the human stories that drive scientific innovation.From navigating the emotional weight of personal loss to watching his son experience the field firsthand, Russ shares not only his scientific insights but the heart behind his leadership. The conversation spans topics like the rising promise of AI diagnostics, challenges with biomarker sampling logistics, the role of CROs in rare disease trials, and the future of autologous vs. allogeneic therapies.Dr. Weiner also offers an inspiring vision of industry collaboration, sharing how organizations like AAPS are becoming conduits for progress across low- and middle-income countries, underrepresented diseases, and emerging biotechnologies. Whether you're in the lab, the boardroom, or on the frontlines of clinical trials, this episode will reignite your sense of purpose in this field.00:00 Preview & Intro01:22 What is conference life like as AAPS President02:27 Mentoring & Fatherhood at AAPS03:54 Setting up the Meeting Season for AAPS05:43 Life back in the Rare Disease Space - a Passion10:58 The different costs of pharmaceutical & biotech research12:59 The generosity of Rare Disease Patients14:41 Dr. Chad Briscoe asks Russ what can we do to help advance Rare Disease efforts19:57 Rare Disease conversations happening at AAPS and global reach22:37 Broad use of new technologies, including Olink24:10 Biggest change expected in Pharma in 10 yearsDr. Russ Weinerhttps://www.linkedin.com/in/russellweiner/ AAPS - https://www.aaps.org/home Dr. Chad Briscoehttps://www.linkedin.com/in/chadbriscoe/ Celerion - https://www.celerion.com/ Gregory Austinhttps://www.linkedin.com/in/gregoryaustin1/ Celerion - https://www.celerion.com/ Takeaways:Treating rare diseases early is not only life-saving—it's economically sound. Gene and cell therapies may carry high price tags, but they dramatically reduce long-term costs.The diagnostic delay for rare diseases—often 4 to 7 years—remains one of the biggest barriers to treatment. AI-powered diagnostics and data integration could change that.Dr. Russ Weiner shares how personal loss fueled his career in science and how mentoring the next generation, including his son, brings it full circle.The shift toward allogeneic cell therapies and in vivo CAR-T treatments will be key to driving down costs and increasing global accessibility.CROs must evolve: future-ready organizations will localize biomarker analysis and forge relationships with rare disease investigators to improve site performance.Technologies like Olink are revolutionizing biomarker discovery, enabling cost-effective, high-resolution multiplexing that was previously out of...
Patient advocate Tami Burdick discusses her article, "How collaboration saved my life from a rare disease doctors couldn't diagnose." Tami shares her personal and arduous journey with granulomatous mastitis (GM), a rare and poorly understood condition, and how embracing collaborative health care in three key ways led to her successful remission. She details the crucial partnership between her conventional Western medicine doctor, surgical breast oncologist Dr. Kelly McLean, and her functional medicine practitioner, Jared Seigler, which allowed for innovative testing and a broader perspective on her illness. Tami also highlights the power of patient-to-doctor collaboration, emphasizing how her own relentless research and self-advocacy were instrumental in uncovering answers that the traditional system initially missed, largely due to time constraints on physicians. Furthermore, she underscores the profound impact of patient-to-patient collaboration through her support group, where shared experiences and knowledge provided critical guidance and helped others navigate the complexities of GM. Tami's story is a testament to the potential of integrating different medical approaches, the necessity of patient empowerment, and a call for systemic changes in health care to foster more such collaborations, including better insurance coverage for alternative practices and more dedicated time for doctor-patient interactions. Our presenting sponsor is Microsoft Dragon Copilot. Want to streamline your clinical documentation and take advantage of customizations that put you in control? What about the ability to surface information right at the point of care or automate tasks with just a click? Now, you can. Microsoft Dragon Copilot, your AI assistant for clinical workflow, is transforming how clinicians work. Offering an extensible AI workspace and a single, integrated platform, Dragon Copilot can help you unlock new levels of efficiency. Plus, it's backed by a proven track record and decades of clinical expertise and it's part of Microsoft Cloud for Healthcare–and it's built on a foundation of trust. Ease your administrative burdens and stay focused on what matters most with Dragon Copilot, your AI assistant for clinical workflow. VISIT SPONSOR → https://aka.ms/kevinmd SUBSCRIBE TO THE PODCAST → https://www.kevinmd.com/podcast RECOMMENDED BY KEVINMD → https://www.kevinmd.com/recommended
Allyson with a Y. Ocean with two Ls. And zero chill when it comes to changing the face of cancer care. Dr. Allyson Ocean has been quietly—loudly—at the center of every major cancer breakthrough, nonprofit board, and science-backed gut punch you didn't know you needed to hear. In this episode, she joins me in-studio for a conversation two decades in the making. We talk twin life, genetics, mitochondrial disease, and why she skipped the Doublemint Twins commercial but still ended up as one of the most recognizable forces in oncology. We cover her nonprofit hits, from Michael's Mission to Let's Win Pancreatic Cancer to launching the American Jewish Medical Association—yes, that's a thing now. We get personal about compassion in medicine, burnout, bad food science, and microplastics in your blood. She also drops the kind of wisdom only someone with her résumé and sarcasm can. It's raw. It's real. It's the kind of conversation we should've had 20 years ago—but better late than never.RELATED LINKS:– Dr. Allyson Ocean on LinkedIn– Let's Win Pancreatic Cancer– NovoCure Leadership Page– Michael's Mission– American Jewish Medical Association– The POLG Foundation– Cancer Buddy App (Bone Marrow and Cancer Foundation)– Dr. Ocean at OncLiveFEEDBACK: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.
This latest episode in the series "What You May Have Missed at ATS 2025," features Donna Appell, RN, immediate-past-chair of the Public Advisory Roundtable (PAR), a unique feature of the American Thoracic Society. Helping to integrate the patient perspective in research and clinical care, PAR is comprised of nearly 15 respiratory-related patient organizations. Ms. Appell sat down with host Patti Tripathi to discuss PAR events at ATS 2025 as well as the work of the Hermansky-Pudlak Syndrome Network, Inc, of which Ms. Appell is founder and executive director.6:40 How do groups like the Hermansky-Pudlak Syndrome Network work with the ATS on grand funding?16:35 Why is it important that PAR have a presence at the International Conference?
Sponsored by Invivyd, Inc.Nobody wants to hear about COVID-19 anymore. Especially not cancer patients. But if you've got a suppressed immune system thanks to chemo, radiation, stem cell transplants—or any of the other alphabet soup in your chart—then no, it's not over. It never was. While everyone else is getting sweaty at music festivals, you're still dodging a virus that could knock you flat.In this episode, Matthew Zachary and Matt Toresco say the quiet part out loud: many immunocompromised people may not even know they have options beyond vaccines. Why? Because the system doesn't bother to tell them. So we're doing it instead. We teamed up with Invivyd to help get the word out about tools other than vaccines that can help prevent COVID-19. We break down the why, the what, and the WTF of COVID-19 risk for cancer patients and why every oncologist should be talking about this.No fear-mongering. No sugarcoating. Just two guys with mics who've been through it and want to make sure you don't get blindsided. It's fast, funny, and furious—with actual facts. You've got more power than you think. Time to use it.RELATED LINKSExpand Their OptionsInvivydMatt Toresco on LinkedInOut of Patients podcastFEEDBACKLike 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.
We have a special guest on today's episode whose voice will be familiar to regular listeners. Last year at this time, Dr. Raven Baxter occupied the Raise the Line host chair for a special ten-part series we produced in collaboration with the Cohen Center for Recovery from Complex Chronic Illness (CoRe) at Mount Sinai in New York City, where she serves as the Director of Science Communication. The series explored the latest understandings of post-acute infection syndromes -- such as Chronic Lyme and Long COVID -- with an array of experts from the Center and other researchers and providers. In this episode, we check-in with Dr. Baxter to get an update on the work of the Cohen Center, especially with regard to its mission to educate providers. “We're building programs so that clinicians can earn credit for learning about chronic illnesses that are infection associated, and we've also developed a 200-page provider manual. I really think that we will be able to shift the narrative that currently exists,” Dr. Baxter tells host Michael Carrese. That narrative includes lingering skepticism among providers of some infection-associated illnesses, which Dr. Baxter witnessed herself as a Long COVID patient, an experience that has added meaningful perspective to her work. Dr. Baxter is also working on her own time to advance knowledge and combat misinformation through a robust social media presence as “The Science Maven” and helps other scientists and clinicians to do the same. "If we're not there to fill in that void, other people will fill it for us and the narrative may not be consistent with the truth or facts." This is a great opportunity to learn about the art and science of communications that can reach clinicians and patients alike.Mentioned in this episode:Cohen Center for Recovery from Complex Chronic IllnessThe Science Maven 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
Discover how artificial intelligence is transforming the future of rare disease research in the latest episode of Let's Talk Rare, the official podcast from Partners4Access (P4A). Join us as we sit down with Ilya Burkov, AI expert at Nebius to explore how cutting-edge machine learning tools are accelerating the discovery, diagnosis, and development of treatments for rare conditions. With over 300 million people affected by rare diseases worldwide, the need for faster, smarter solutions has never been greater. Ilya sheds light on the real-world applications of AI in identifying new genetic links, optimizing clinical trial data, and personalising care pathways. Whether you're a biotech professional, healthcare provider, or advocate, this episode offers critical insights into how AI is reshaping the rare disease landscape. Tune in now to understand the promises, challenges, and future possibilities of AI in rare disease development—only on Let's Talk Rare, brought to you by P4A.
Good morning from Pharma and Biotech Daily: the podcast that gives you only what's important to hear in Pharma and Biotech world.A patient death has led to the halt of Rocket's gene therapy trial for Danon disease, due to complications from an acute systemic infection. This incident highlights the unpredictable nature of gene therapies and may pose challenges for investment in the field. On the other hand, mRNA technology has been both helped and hindered by the COVID-19 pandemic. While the pandemic has increased interest and funding in mRNA research, vocal skeptics of COVID-19 vaccinations have negatively impacted the reputation of mRNA technology. Despite this, some see promise in mRNA for therapeutics in cancer and rare diseases.In other news, Prothena is considering business options after a failed phase III trial, and a new biotech company has been launched to focus on neuro diseases. Additionally, AGC Biologics will be at Bio International to showcase their capabilities in protein biologics and advanced therapies.mRNA technology played a significant role in combating COVID-19, but is now facing scrutiny due to vaccine skeptics and cuts in government funding for research. Despite this, the pandemic accelerated advancements in mRNA therapeutics for cancer and rare diseases. The lack of FDA-approved treatments for rare diseases, particularly in children, highlights a critical need for innovation in this area. The American Association for Cancer Research's annual conference will unveil data that could impact cancer treatment, while the future of vaccine development faces challenges amidst regulatory changes and funding issues. Additionally, advancements in cell and gene therapy are on the horizon. Suggestions for coverage topics in the biopharma industry are welcomed.
EPISODE DESCRIPTIONLisa Shufro is the storyteller's storyteller. A musician turned innovation strategist, TEDMed curator, and unapologetic truth-teller, Lisa doesn't just craft narratives—she engineers constellations out of chaos. We go way back to the early TEDMed days, where she taught doctors, scientists, and technocrats how not to bore an audience to death. In this episode, we talk about how storytelling in healthcare has been weaponized, misunderstood, misused, and still holds the power to change lives—if done right. Lisa challenges the idea that storytelling should be persuasive and instead argues it should be connective. We get into AI, the myth of objectivity, musical scars, Richard Simmons, the Vegas healthcare experiment, and the real reason your startup pitch is still trash. If you've ever been told to “just tell your story,” this episode is the permission slip to do it your way. With a bow, not a violin.RELATED LINKSLisa Shufro's WebsiteLinkedInSuper Curious ArchiveEight Principles for Storytelling in InnovationStoryCorps InterviewCoursera Instructor ProfileWhatMatters ProjectFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
In the latest episode of Medical Affairs unscripted, Peg Crowley-Nowick, PhD and Senior Advisor, Medical Affairs Consulting at Lumanity, engages in a compelling conversation with Eva Gallagher, PhD, CNMAP, VP, Head of Medical Affairs at Agios Pharmaceuticals. They explore the strategic role of Medical Affairs in the rare disease space, discussing best practices for building effective teams, engaging diverse stakeholders, and leveraging digital tools for education. Eva's journey and success in the field offer a blueprint for how Medical Affairs can drive impactful change and enhance patient outcomes. The discussion delves into the significance of starting Medical Affairs efforts early—sometimes as much as five to seven years before a product launch. Eva explains the critical need for educating healthcare practitioners about rare diseases, especially when those conditions are often not well-known. The episode also highlights the role of medical strategy, publication planning, and patient advocacy in creating a comprehensive approach to rare disease management. With practical examples and real-world insights, this episode provides a detailed roadmap for navigating the complexities of launching therapies in rare disease markets.
In this episode of The Clinical Research Coach, host Leanne Woehlke sits down with trailblazer Nasha Fitter—tech entrepreneur, rare disease advocate, and co-founder of both the FOXG1 Research Foundation and Citizen Health.After Nasha's daughter was diagnosed with FOXG1 syndrome, an ultra-rare neurological disorder, her world shifted. Instead of accepting the limitations of the current research landscape, she took action- building a foundation, galvanizing the scientific community, and redefining what's possible for families facing rare disease.What began as a grassroots foundation now drives innovative drug development, redefines data collection, and challenges the status quo in drug development.In this conversation, Nasha shares:How a small, determined parent community raised $10M and launched a gene therapy programWhy traditional research models fail rare disease patients—and how to fix themThe power of patient-owned data and how platforms like Citizen Health are transforming access and insightsHow to build empathy for families navigating special needsWhat pharma gets wrong (and right) in working with advocacy groupsHer vision for a precision medicine future—starting with ultra-rareThis is a story about courage, creativity, and a more inclusive, patient-driven future of medicine. Nasha's bold vision and action oriented approach will leave you inspired and hopeful.To Find Out More:Nasha Fitterhttps://www.linkedin.com/in/nashafitter/FOXG1 Research Foundation: https://www.foxg1research.org/Citizen Health:https://www.citizen.health/
In this episode of The Health Advocates, Steven Newmark is joined by Rob Long, Executive Director of Uplifting Athletes. Rob shares his journey from All-American punter at Syracuse University to rare brain cancer survivor and patient advocate. Diagnosed during his senior season, Rob’s football career was cut short, but his passion for teamwork and purpose found new life in advocacy. Through his leadership at Uplifting Athletes, Rob helps amplify rare disease awareness, fund groundbreaking research, and connect patients to uplifting experiences across the country. Join us for a conversation about resilience, purpose, and how sports can unite and empower the rare disease community. Among the highlights in this episode: 02:25: Rob shares how he started playing football, got recruited by Syracuse, and committed after being offered a full scholarship 04:05: Rob describes the symptoms leading up to his diagnosis and the moment he learned he had a large brain tumor 06:30: Rob recalls undergoing emergency surgery and being told he likely wouldn’t live more than 36 months — a moment that shifted his entire life’s trajectory 07:45: Rob explains how seeing his teammates at an important game post-surgery gave him the sense of normalcy and emotional support he desperately needed 09:24: Rob offers advice to friends and families supporting loved ones through serious illness: show up, and stay consistent 10:33: Rob shares how his teammates started the Syracuse chapter of Uplifting Athletes in his honor and how that led him to join the organization 12:42: Rob discusses connecting with patients around the country and the shared experience of living with a rare disease 14:21: Rob explains how people can support Uplifting Athletes by donating, liking and sharing content, and helping increase visibility for the rare disease community To learn more about Uplifting Athletes go to: www.upliftingathletes.org 15:34: Steven wraps the episode by reflecting on the inspiration of his story and continued advocacy Contact Our Host Steven Newmark, Chief of Policy at GHLF: snewmark@ghlf.org A podcast episode produced by Ben Blanc, Director, Digital Production and Engagement at GHLF. We want to hear what you think. Send your comments in the form of an email, video, or audio clip of yourself to podcasts@ghlf.org Catch up on all our episodes on our website or on your favorite podcast channel.See omnystudio.com/listener for privacy information.
What happens when you blend the soul of Mr. Rogers, the boldness of RuPaul, and just a pinch of Carrie Bradshaw? You get Sally Wolf.She's a Harvard and Stanford powerhouse who ditched corporate media to help people actually flourish at work and in life—because cancer kicked her ass and she kicked it back, with a pole dance routine on Netflix for good measure.In this episode, we unpack what it means to live (really live) with metastatic breast cancer. We talk about the toxic PR machine behind "pink ribbon" cancer, how the healthcare system gaslights survivors when treatment ends, and why spreadsheets and dance classes saved her sanity. Sally doesn't just survive. She rewrites the script, calls out the BS, and shows up in full color.If you've ever asked “Why me?”—or refused to—this one's for you.RELATED LINKS:Sally Wolf's WebsiteLinkedInInstagramCosmopolitan Essay: "What It's Like to Have the 'Good' Cancer"Oprah Daily Article: "Five Things I Wish Everyone Understood About My Metastatic Breast Cancer Diagnosis"Allure Photo ShootThe Story of Our Trauma PodcastFEEDBACK: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.
On this episode, Tania Simoncelli (Vice President, Translational Impact and Engagement, Chan Zuckerberg Initiative) and Nasha Fitter (Co-founder & CBO, Citizen Health and Co-founder & CEO, FOXG1 Research Foundation) join forces to discuss how rare disease patient advocacy has transformed over time and how the biopharmaceutical industry should adapt to better meet the needs of today's patients. They dive deeper into the evolution of rare disease patient advocacy groups, why industry must move beyond the hyperfocus on “blockbuster drugs” to make progress in rare disease research, and how advancements in rare disease treatments can benefit the clinical research ecosystem for all.
How do you drive awareness for a rare disease with a name that's difficult to even pronounce and a wide range of symptoms that mimic other conditions?In this episode, host Eric Racine and co-host Preeya George-Guiser sit down with Mary Jo Strobel, Executive Director of the American Partnership for Eosinophilic Disorders (APFED), about the organization's strategic approach to rare disease advocacy.Mary Jo shares how APFED blends creativity, strategy, and a patient-centered approach to raise awareness and improve lives for patients living with eosinophil-associated diseases. From creative targeted awareness campaigns to evidence-based initiatives, this conversation highlights how cross-sector collaboration can accelerate correct diagnosis and treatment and create lasting change in rare disease communities.
In this episode, Jeffrey Allen, a passionate advocate for rare disease awareness and a dedicated father to Lucas, who has creatine transporter deficiency. (CTD is also referred to as SLC6A8 Deficiency, CRTR, and X-linked Creatine Transporter Deficiency.Mutations in the SLC6A8 gene result in CTD.While patients with CTD have the necessary AGAT and GAMT enzymes to form creatine, the creatine transporter does not function properly. This results in creatine in the bloodstream, but not in the brain and muscles.) Jeffrey shares his journey of parenting a child with a rare disease, the life lessons he has learned from Lucas, and his experiences participating in the Ruck for Rare and the Beast Games. He emphasizes the importance of community support, advocacy, and the beauty found in challenges. The conversation highlights the significance of genetic testing and awareness for rare diseases, as well as the need for connection and communication among parents in similar situations.
On this episode of “Raise the Line” we welcome Dr. Sheldon Fields, a trailblazer in the nursing field and the president of the National Black Nurses Association. In a candid conversation, Dr. Fields shares his inspiring journey from the bedside to becoming a prominent figure in nursing, HIV/AIDS prevention and academia and also shares the challenges he faced as a Black man in a predominantly white and female field. "I fell in love with a profession that has not always loved me back," he tells host Kelsey Lafayette. Dr. Fields brings over thirty years of experience as an educator, researcher, clinician, administrator, consultant, health policy specialist, and entrepreneur to his current role at NBNA, and as the inaugural associate dean for equity and inclusion at the College of Nursing at Penn State University, where he also serves as a research professor. Listeners will find Dr. Fields' insights on navigating a career in healthcare particularly valuable, as he stresses the importance of resilience, continuing education, and mentorship. It's a compelling listen for anyone interested in the intersection of health, policy, and social justice.Mentioned in this episode:National Black Nurses 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/raisethelinepodcast
CTX is a rare metabolic disease that can cause seizures, developmental delays, and intellectual disability. Now, a diagnostic test that can detect the condition early is available, and a treatment that can prevent the disease's serious effects has won regulatory approval. We spoke to Bart Duell, professor of medicine at Oregon Health Sciences University, about CTX, the role OHSU played in developing a diagnostic and advancing a treatment for CTX; and the critical interplay between academic medical centers, patient advocates, and drug developers to address the needs of people with rare diseases.
How do we create continuing education that prepares clinicians to deliver life-changing diagnoses with both precision and compassion?In this episode, we explore what happens when the scientist's role as a communicator intersects with the lived experience of parenting a child with a rare disease. I'm talking with Dr. Jennifer Brown, a geneticist who recently published a memoir, When the Baby is not OK: Hopes and Genes, based on her experience of parenting children diagnosed with PKU through newborn screening. For CME professionals, this episode is a call to rethink how we center narrative, ethics, and emotional intelligence in our content, especially when evidence alone isn't enough to support meaningful patient care. Learn how outdated narratives and clinical language can alienate patients—and how reframing them can build trust and support retention in care. Hear why integrating lived experience into CME is essential for designing education that resonates beyond the exam room. Discover how personal storytelling, ethical reflection, and patient advocacy can enrich data-driven CME writing. ▶️ Press play to discover how Dr. Jennifer Brown's dual lens—as a geneticist and parent—can sharpen your skills as a more empathetic, informed CME professional. Connect with Jennifer LinkedIn Goodreads Author Site Bluesky YouTube
AI is reshaping rare disease treatments by accelerating drug repurposing, identifying therapeutic opportunities, and unlocking actionable insights hidden in clinical data. Discover how innovative frameworks and technology platforms are helping healthcare leaders, diagnostic companies, and telehealth providers uncover new treatment pathways faster and more efficiently. Dr. Sanjay Juneja (https://sjunejamd.com/) speaks with Dr. David Fajgenbaum (https://www.linkedin.com/in/davidfajgenbaum) about the ethical imperative of using AI-driven drug repurposing to address underserved rare conditions and the growing potential to surface overlooked therapies. Gain practical insights on decision-making, data analysis, and scalable solutions that can impact patient care.
Episode DescriptionAudra Moran is the President and CEO of OCRA—Ovarian Cancer Research Alliance—which means she spends her days doing things most of us wouldn't survive five minutes doing: merging nonprofits, leading national patient support programs, funding lifesaving research, surviving pharma grant hell, and trying to reach every woman in America who might be slipping through the cracks. We talk about her time working with the Helen Keller National Center (yes, she knows finger spelling), her accidental journey into cancer nonprofit leadership, the weirdness of dermoid cysts, the ridiculousness of writing grants, and the absolute hellscape of diagnosis delay. Oh, and the fallopian tubes. You'll never look at them the same way again.This episode is funny, raw, deeply personal, and loaded with Gen X movie references and random facts about Paul Rudd, Terminator 2, and flipbook apps at 3am. Audra drops wisdom, humility, and a few hot takes on AI, advocacy, and what it really means to lead when the boulder keeps rolling downhill.RELATED LINKSAudra Moran on LinkedInOvarian Cancer Research Alliance (OCRA)Audra's profile on OCRACURE Today interview: Leading the FightOCRA + AI & Data: Overlooked PodcastFEEDBACKLike 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.
When Hannah Lowe's son was diagnosed with a rare disease, she turned fear into fuel and founded the L-CMD Research Foundation and led a successful $2M peer-to-peer fundraising campaign from scratch. In this episode, she shares her journey, the unique challenges of leading rare disease research, and how personal storytelling and community-driven fundraising can accelerate impact against all odds.
A 70-year-old person with cystic fibrosis. It's a phrase that wasn't just uncommon a few decades ago—it was virtually unheard of.When Luanne McKinnon was diagnosed in 1969 at just 13 years old, doctors told her parents she might live to be 19 years old. Today, Luanne stands on the edge of her 70th birthday—a milestone that not only redefines possibility but embodies resilience, creativity, and purpose.Born in Dallas, Texas in 1955, Luanne was diagnosed at a time when cystic fibrosis was still barely understood. No vests. No targeted medications. No community. And yet, she carved out a life of profound impact. “I stand as a witness to the possible.” says Luanne McKinnonAfter earning a Master of Fine Art in Painting and a PhD in Art History, she launched a celebrated career in the visual arts—owning an art dealership in New York City, directing major university museums, publishing works, and curating over 35 exhibitions. She even became a Fellow at the prestigious Getty Research Institute.And while that would be more than enough for most of us, Luanne continued to pour herself into advocacy—serving as Co-chair for Stanford's Patient and Family Advisory Committee, raising awareness for CF patients before and after transplant. In 2011, she underwent a successful double-lung transplant at Stanford, and fourteen years later, she is still very much living proof.This episode is not about her equally remarkable husband—EMMY award-winning filmmaker Daniel Reeve—though we'll mention him later. This is about Luanne—her life, her art, her truth, and her refusal to let a diagnosis define the limits of her possibility. She says, “I stand as a witness to the possible.”And after listening to this conversation, I think you'll believe in the possible, too.Welcome, to a very special episode of the Living with cystic fibrosis podcast and our incredible guest, Luanne McKinnon. 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
RARE MAMAS RISING- EPISODE 49 Holding On To Our Identity with Rare Mama Nikki McIntosh In this empowering Mother's Day episode of Rare Mamas Rising, host Nikki invites listeners into a raw, tender conversation about what it means to hold on to your identity while parenting a child with a rare disease. From personal reflections to stories from fellow rare moms, this episode explores the invisible shifts in identity and small but powerful ways to reconnect with who you are. Because this Mother's Day, we're celebrating the whole you— not just the caregiver, but the creative, the dreamer, the friend, the person. This episode is a tribute to the woman behind the diagnosis — a celebration of who you are, who you were, and who you're becoming. 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
Send us a textIn this special episode of Confessions of a Rare Disease Mama, I'm sharing the live audio from a panel I had the honor of moderating at the Global Genes Rare Advocacy Exchange. This conversation dives into the power of creative fundraising—something so many of us in the rare disease community are tasked with, whether we feel ready or not.You'll hear from three incredible rare parents who are using their voices, talents, and grit to fund life-changing research and support. We talk strategy, heart, and the very real emotional toll (and triumph) that comes with fundraising for our children.
“Blind baseball - it's like the great equaliser. I've found the experience of playing the adaptive sports just as fulfilling, motivating, and frankly competitive as the sports I played as a sighted person growing up.” Our guest on Outlook this week was used to adversity in life, having faced both grief and treatment of a serious chronic illness as a teenager. When Zach Ship was newly blind, years later, he was wished a “Happy Disability Pride Month” by The Lighthouse Guild and he didn't believe there was much to be proud of though he soon learned otherwise. Zach explains to us some of the rules of blind baseball and about what it meant to him when he discovered the sport, in its adaptive form, which gave him something back of the years playing sports like baseball competitively. So when he heard a documentary on the blind baseball team was being made, he was thrilled others might see what blind baseball (difficult to imagine for so many) is like.. So from our friendly cross-border Major League team rivalry to the support group and club we three are all a part of/considering starting, Ship has been through everything( from acute/sudden and unexpected health situations/acquired disability to the loss of a parent at a young age) and shares some of the lessons on the possibilities of adaptation and the power of community. “No way of reacting is right or wrong, but focusing on what things we do still have, the things you can still enjoy. Even if it's just you can eat this delicious meal or you can feel the sun on your face. It could be small things or it could be big things, always keeping that very very close in mind is critical.” We first heard Zach Ship on “It Happened to Me, A Rare Disease and Medical Challenges Podcast - It happened to me. I'm not alone and neither are you.” This is the message he both benefited from thanks to others, in his own journey, but also the message he believes as he's become a disability advocate now himself. To learn more about Blind Baseball and the documentary being made about Zach Ship's team, check out this Indiegogo page: https://www.indiegogo.com/projects/blind-baseball-documentary-halfway-funded#/ Watch the documentary teaser trailer here: https://vimeo.com/963770229
Christine Verini is a pharmacist by training, a nonprofit CEO by title, and an unapologetic empath by design. She now leads CancerCare, one of the oldest, least-known, and most impactful organizations in the country that actually helps real cancer patients deal with the practical garbage no one likes to talk about—like paying rent, affording a ride to chemo, or feeding their kids.We talk about her career pivot from industry to impact, what it's like trying to scale empathy without losing your soul, and the daily gut-punch of knowing there are millions of people who still have no idea that CancerCare exists. Christine gets real about leadership, advocacy, burnout, and why being “pan-cancer” matters more than ever in a world obsessed with biomarkers, buckets, and branding.She also dishes on what AI gets dead wrong, what patients actually want when they call for help, and why “ghosting” someone with cancer is still a thing. Buckle up. This one's packed with heart, brains, and a little righteous rage.RELATED LINKSCancerCareChristine Verini on LinkedInChristine's CEO Announcement – PR NewswireCancer Health 25: Christine VeriniChristine on HealthyWomenBIO Convention Speaker ProfileFEEDBACKLike 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.
There are some incredible humans on planet Earth and Dr. Shoshana Shendelman is one of them. Dr. Shendelman is a PhD in cellular, molecular, and biophysical studies, and has committed her professional career to tackling some of medicine's toughest challenges, curing rare and underserved diseases. Dr. Shendelman sits on Columbia University's board of trustees and is vice chair of its medical board. She also IPO'd her company Applied Therapeutics, which eventually exceeded a billion-dollar market cap. But sometimes life takes unexpected turns. We can all relate. Applied Therapeutics and Dr. Shendelman's important research and development surrounding treatments for three diseases became entangled in an FDA procedural technical issue. Thank you, Dr. Shendelman, for joining me on Some Future Day to share your inspirational journey across the business of biotech, academia, and family. Wait until you hear about this incredible family! Enjoy.Order Marc's new book, "Some Future Day: How AI Is Going to Change Everything"Sign up for the Some Future Day Newsletter here: https://marcbeckman.substack.com/Episode Links:Dr. Shoshana on LinkedIn: https://www.linkedin.com/in/shoshana-shendelman-phd-8756926/Applied Therapeutics: https://www.appliedtherapeutics.com/To join the conversation, follow Marc Beckman here: YoutubeLinkedInTwitterInstagramTikTok
Eight miles. Two friends. One cause.In this inspiring episode, Jacob Venditti opens up about his life with cystic fibrosis, offering candid updates on his health and the challenges he faces as he prepares for a lung transplant. He emphasizes the vital role of community support and shares how his work with the Live Fearlessly Foundation fuels his mission to empower others. Jacob also sheds light on the rare disease income threshold amendment he's championing, which aims to create more equitable opportunities for patients. The conversation builds toward his upcoming Crossing 4 CF event, showcasing his unwavering resilience and commitment to living fearlessly.The heartfelt conversation continues with Rob Brown. Rob talks about their upcoming 80-mile paddle race aimed at raising awareness for cystic fibrosis (CF). Jacob shares how open ocean paddling has become both a personal passion and a powerful way to connect with the CF community. Rob reflects on his enduring friendship with Jacob and their mutual love for surfing. Together, they highlight the healing power of the ocean—physically, mentally, and emotionally—especially for those living with CF. To connect with Jacob and his team: https://livefearlesslyfoundation.com 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
This episode is Part 2 of our series “What We Can Learn from the Rare Disease Community.” Last week, we heard from Bobby Glen about navigating the healthcare system as a parent of a child with HNRNPH2. Today, his wife Nicole—who is also a pediatrician—joins us to share how raising a child with a rare disease has shaped the way she practices medicine, approaches patient advocacy, and supports families navigating speech and communication challenges.Event Alerts:Docs on Stuttering – May 8 (Use "PROUD25" at checkout for a free ticket)Docs on Disability – May 15, featuring Marlee Matlin's Sundance-premiered documentaryPhilly Proud Stutter Gathering – May 19Save The Date: Proud Stutter Annual Gala in San Francisco – October 9 (listeners get 50% off tickets!)And yes, Survivor fans—our recap will be back to cover the season finale, which airs on May 21, 2025! Go Mitch!Support this podcast at — https://redcircle.com/proud-stutter/exclusive-contentAdvertising Inquiries: https://redcircle.com/brandsPrivacy & Opt-Out: https://redcircle.com/privacy
We're honored to continue our global tour of medical education today with Professor Katarzyna Taran, MD, PhD, a pioneering interdisciplinary researcher of tumor cell biology, an award winning educator noted for her focus on student engagement, and -- in a first for a Raise the Line guest -- a shooting sports certified coach and referee. As Professor Taran explains to host Michael Carrese, these seemingly disparate professional activities require the same underlying attributes: patience, the ability to overcome barriers, openness and adaptation. She believes those last qualities are especially important for today's medical students to acquire given the accelerated pace of change in healthcare. “They need to be equipped with the ability for critical thinking, to analyze and synthesize, and to search for unconventional solutions.” Professor Taran tries to impart these skills, in addition to the medical and scientific knowledge students must know, through a high level of engagement. “Teaching is relational, so try to be familiar with students' concerns. Talk to them, listen to them and you will become someone they trust.” In this wide-ranging and engaging conversation, Professor Taran also discusses her work as the head of the Laboratory of Isotopic Fractionation in Pathological Processes in Chair of Oncology, the use of neurodidactics in teaching, and the connection between the science of pathology and the future of humans in space. Mentioned in this episode:Medical University of Lodz 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 special episode of the #BeyondHAE podcast, we hear from three passionate young advocates, Zach, Angel, and Arabel who took their voices to Capitol Hill during the EveryLife Foundation's Rare Disease Week events. Representing the HAEA community, they met with legislators to push for policies that improve the lives of people with rare diseases and their families.Tune in as they share their experiences from the event, discuss the importance of Rare Disease Day, and break down the key issues they advocated for. They'll also explore ways that you, no matter where you are, can get involved in rare disease advocacy from home.Join us for an inspiring conversation about the power of young advocates, the policies that matter, and the impact they hope to make for the HAE and rare disease community!This youth produced podcast is brought to you thanks to the support of the Hereditary Angioedema Association, a patient advocacy organization serving the needs of the HAE patient and caregiver community. To learn more about the HAEA and access our incredible support network, visit, www.haea.org.Thank you to our sponsors, KalVista and Pharvaris.
A few years ago we had the pleasure of speaking with Jonathan Ogurchak about the success of his company STACK. Now we have invited him back to see how the business has progressed and learn about his new venture, Zeal Specialty Pharmacy. As a pharmacist, Jonathan observed significant inefficiencies and a need to modernize processes. This set him on a course to develop and deliver better technology that would ultimately improve patient care. Today, he is a recognized serial entrepreneur, a leader in technology, and a man whose latest endeavor is centered on the delivery of medication to individuals with rare diseases. Here are highlights of our conversation: -An Update on STACK: The business has expanded its product offerings including a new product called On Queue, an operations workflow platform to enhance the pharmacy patient journey and capture valuable data. They now have customers in the US, Canada, Mexico, and Dubai. -Healthcare Compliance: STACK software helps organizations manage compliance by providing easy access to regulations for different states and purposes and automating processes for accreditation, compliance, and training for pharmacies. -Zeal's Branding Strategy: Jonathan explained the origin of the company name "Zeal" as a play on the term "zebra" in the medical community, representing rare and orphan diseases. The zebra also represents an effort to connect with patient communities through tasteful and purposeful branding. -Advice for Founders: Finding a mentor and maintaining a network for personal and professional growth is critical for new founders. He shared his experiences as a business owner and entrepreneur, highlighting the need to foster a healthy balance between work and personal life. He shared the significance of family and prioritizing time with loved ones, as businesses and jobs can change but family remains constant. -Building Culture: Jonathan discussed the pharmacy's leadership development initiative, which includes a book club focused on customer service and growth. He mentioned the book "Unreasonable Hospitality" and the Disney Institute program. Jonathan also shared that he encourages team members to explore different industries for innovative ideas. About the guest: Jonathan Ogurchak, PharmD, CSP, CPHIMS, is a specialty pharmacy veteran, having served in numerous roles across pharmacies, associations, and education for the last 15 years. Currently, he is the CEO & Founder of STACK, a software firm with two commercially available platforms: its namesake, STACK, a pharmacy information management platform designed to curate and organize information necessary to run successful pharmacies, professional associations, and higher education institutions; and OnQueue, a workflow platform built to optimize the patient journey for pharmacies and clinics. He is also the CEO and co-founder of Zeal Specialty Pharmacy, an independent rare-disease pharmacy leveraging both the above technologies to create the best experiences possible for patients, prescribers, and pharma partners across the country. Jonathan is an adjunct faculty through Duquesne University and the University of Pittsburgh, precepts pharmacy students virtually at 25 schools of pharmacy nationwide, focused on specialty pharmacy programs and processes, and his specialty pharmacy textbook is in pre-publication. Connect with Jonathan: Website: https://www.managewithstack.com/ Website: https://www.zealsp.com/ Connect with Allison: Feedspot has named Disruptive CEO Nation as one of the Top 25 CEO Podcasts on the web, and it is ranked the number 6 CEO podcast to listen to in 2025! https://podcasts.feedspot.com/ceo_podcasts/ LinkedIn: https://www.linkedin.com/in/allisonsummerschicago/ Website: https://www.disruptiveceonation.com/ #CEO #leadership #startup #founder #business #businesspodcast Learn more about your ad choices. Visit megaphone.fm/adchoices
Jennifer Finkelstein is not here for your pity, your pinkwashed slogans, or your performative awareness campaigns. She's a 20-year young adult breast cancer survivor who turned trauma into a blueprint for action and built 5 Under 40, a no-BS nonprofit supporting women diagnosed with breast cancer under 40.In this episode, we go full Gen X therapy session—from SNL nostalgia and cold caps to the absurdity of finding out you have cancer while looking for the remote. Jen drops real talk about founding a nonprofit when nothing existed for her age group, why mental health support isn't optional, and how passing down designer scarves can mean arming someone for battle.If you're looking for honesty, grit, and a few inappropriate jokes about gastroenterology, this one's for you. You'll laugh, you might cry, and you'll definitely leave knowing why Jennifer Finkelstein is a survivor, a fighter, and a damn legend.RELATED LINKS5 Under 40 FoundationJennifer Finkelstein on LinkedInAbout 5 Under 40: Board of DirectorsDan's Papers: 5 Under 40 Supports Young Breast Cancer SurvivorsFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship inquiries, email podcast@matthewzachary.com.Let me know if you want shorter pull quotes, audiogram text, or promotional copy for LinkedIn, Instagram, or your newsletter.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Bobby Glen shares his family's journey, from getting a diagnosis to participating in a clinical trial, and the importance of early screening and community support. This is Part 1 of a two-part series about raising a child with HNRNPH2, a rare disease that affects speech and motor skills. Part 2 will feature his wife, Nicole, who reflects on how this experience has shaped her work as a pediatrician and her views on patient advocacy and communication differences like stuttering.If you'd like to reach out to Bobby, you can email him at glennrw@gmail.com.Support this podcast at — https://redcircle.com/proud-stutter/exclusive-contentAdvertising Inquiries: https://redcircle.com/brandsPrivacy & Opt-Out: https://redcircle.com/privacy
Host: Denise M. Dupras, M.D., Ph.D. Guest: Michael Zimmer, Ph.D., Director of Rare Diseases at Moderna Therapeutics This episode of Genes & Your Health welcomes Dr. Michael Zimmer from Moderna Therapeutics, who discusses how mRNA technology is being applied to treat rare genetic diseases, especially liver-based metabolic disorders. Dr. Zimmer explains how mRNA can help the body produce missing proteins, the challenges of delivering these therapies, and the promise they hold for previously untreatable conditions. Connect with us and learn more here: https://ce.mayo.edu/online-education/content/mayo-clinic-podcasts
What happens when a black belt, sword-slinging fitness icon gets cancer—twice? She picks up a camera and dares the universe to test her again.Ilaria Montagnani is not your average anything. She's been building strong bodies (and stronger minds) for over 30 years as the founder of Powerstrike. She's part Jane Fonda, part Uma Thurman, and very much the action hero you wish was your personal trainer.In this episode, we talk about what happens when everything you built your life on—movement, strength, purpose—gets sideswiped by disease. Twice. Ilaria opens up about diagnosis shock, bad doctor vibes, wielding swords post-mastectomy, and why working out through treatment is the best revenge.We get into scanxiety, menopause side effects, nutrition spirals, and the moment she realized the fitness industry needed more truth—and less bullshit.This one's real, raw, and will either guilt you into planking or inspire you to finally cancel that gym membership you've never used. Either way, you're gonna feel something.RELATED LINKSStronger for Life documentaryPowerstrike official siteIlaria on InstagramIlaria on LinkedInWorkout programs and DVDsForza Sword Workout on AmazonFEEDBACKLike 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.
Today, approximately 10,000 rare diseases collectively affect as many as 400 million people around the world, and women leaders have long been at the forefront of bringing awareness to these diseases and driving change. Katie Couric moderates a panel that includes Tania Simoncelli of Chan Zuckerberg Initiative, whose “Rare as One” campaign gives to rare disease researchers and support groups, Tara Zier who founded the Stiff Person Syndrome Research Foundation, Susan Dando of the Smith-Kingsmore Syndrome Foundation, and Dr. Christina Miyake, a researcher studying TANGO2 deficiency disorder. This panel will explore the resilience, determination, and ingenuity required to address the unique challenges in rare disease advocacy and research. Panelists will share their experiences in breaking barriers, leading patient-centered initiatives, and building collaborations that move the needle toward treatments and cures. #SponsoredbyCZISee omnystudio.com/listener for privacy information.
Helene M. Epstein is not here to make friends with the healthcare system. She's here to dismantle the bullshit, one catastrophic medical error at a time. A marketing agency veteran turned patient safety firebrand, Helene's journey from copywriter to cancer misdiagnosis survivor, to “badass queen of patient safety,” is one hell of a ride.We talk about how her son was misdiagnosed over 15 times (yes, really), why some doctors should come with warning labels, and how American healthcare gaslights patients like it's a competitive sport. She also explains why she's giving away her new book for free, one chapter at a time, and how AI might actually be useful—if it stops hallucinating citations.This is not a light listen. It's the real deal. You'll walk away angry, inspired, and a lot more dangerous as a patient.RELATED LINKSHelene's Substack: https://helenemepstein.substack.comPatient Safety Resources: https://www.pfps.usSociety to Improve Diagnosis in Medicine: https://psnet.ahrq.gov/issue/society-improve-diagnosis-medicineHelene's Website: https://www.hmepstein.com/meet-heleneLinkedIn: https://www.linkedin.com/in/hmepsteinFEEDBACKLike 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.
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