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Teresa Baglietto has lived through the kind of compounded harm that exposes how thin the safety net really is. In this episode she walks through a life shaped by medical neglect, personal violence, and the exhausting labor of self advocacy. She nearly died after a C section when hospital staff failed to confirm she had urinated before discharge, spending 15 days hospitalized and separated from her newborn while facing the possibility of permanent damage. In 2013 she discovered an aggressive breast cancer and waited weeks for test results and surgery while administrators stalled and passed responsibility. Care only moved forward after she threatened public exposure. Teresa also speaks openly about surviving rape in high school, losing her father to cancer at age 48 when she was 10, and growing up without reliable adults in the room. She explains why it took 7 years to write her book, why she launched a podcast, and how sales grit becomes a survival tool when patients must fight systems designed to delay them. The conversation stays specific, unsentimental, and grounded in consequence.RELATED LINKSTeresa Baglietto on LinkedInThe Ripple Effect by Teresa BagliettoIn Shock PodcastIn Shock Podcast on InstagramCanvas Rebel interview with Teresa BagliettoFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Families of children with rare, progressive, and often terminal genetic diseases are urgently pressing the FDA and Congress to accelerate access to promising therapies that could slow or halt irreversible decline. Lois Collins with the Deseret News sheds light on this issue and how Utah families are impacted.
What starts with airport chaos and accessibility frustrations turns into a meaningful conversation about what it really takes to move rare disease research forward.Sean and Kyle kick things off with travel stories from their trip to Rare At Sea, including misplaced mobility equipment, inaccessible hotel setups, and the all-too-common surprises that come with traveling disabled. Then they're joined by Derek Ansel, who pulls back the curtain on the world of clinical research—breaking down what CROs do, why diagnosis matters so much, and how patients, providers, and industry all play a role in bringing treatments closer to reality.It's equal parts relatable, informative, and encouraging—mixing everyday disability experiences with a behind-the-scenes look at the systems, strategy, and people helping drive progress in rare disease.
In this episode, the hosts unpack the controversial exit of Vinay Prasad from the FDA and what it reveals about fractures inside the MAHA coalition and the broader Trump-era health policy landscape. They examine the disputes surrounding rare-disease drug approvals—particularly Huntington's gene therapy—alongside ongoing battles over COVID vaccines, regulatory standards, and public trust in federal health agencies. The discussion also explores how political alliances, pandemic-era commentary, and conflicts with patient advocacy groups ultimately contributed to Prasad's downfall and what it may signal for the future of vaccine policy and biomedical regulation in the U.S. Connect with us further on https://sciencebasedmedicine.org/author/jonathanhoward/ The Fine Print The content presented in the "We Want Them Infected" Podcast and associated book is intended for informational and educational purposes only. The views and opinions expressed by the speakers, hosts, and guests on the podcast do not necessarily reflect the views of the creators, producers, or distributors. The information provided in this podcast should not be considered as a substitute for professional medical, scientific, or legal advice. Listeners and readers are encouraged to consult with relevant experts and authorities for specific guidance and information. The creators of the podcast and book have made reasonable efforts to ensure that the information provided is accurate and up to date. However, as the field of medical science and the understanding of the COVID-19 pandemic continue to evolve, there may be new developments and insights that are not covered in this content. The creators are not responsible for any errors or omissions in the content or for any actions taken based on the information provided. They disclaim any liability for any loss, injury, or damage incurred by individuals who rely on the content. Listeners and readers are urged to use their judgment and conduct their own research when interpreting the information presented in the "We Want Them Infected" podcast and book. It is essential to stay informed about the latest updates, guidelines, and recommendations related to COVID-19 and vaccination from reputable sources, such as government health agencies and medical professionals. By accessing and using the content, you acknowledge and accept the terms of this disclaimer. Please consult with appropriate experts and authorities for specific guidance on matters related to health, science, and the COVID-19 pandemic.
Health Affairs' Jeff Byers welcomes Deputy Editor Leslie Erdelack back to the pod to break down recent turbulence at the FDA following the departure of Vinay Prasad, whose decisions around rare‑disease gene therapies courted controversy. They explore the fast‑growing rare disease therapeutics market, why traditional clinical trials often don't work for ultra‑rare genetic conditions, and the new FDA draft guidance for rare disease drug development. On March 24th, join us for our upcoming Insider exclusive event focusing on pharmacy benefit manager reform with Harvard Medical School's Benjamin Rome.Become an Insider to get access to this event, trend reports, cheat sheets, and exclusive newsletters.Related Articles:FDA vaccines chief who ran afoul of pharma to depart (Politico)Rare Disease Therapeutics Market to Surpass US$ 495.27 Billion by 2033 as Gene Therapy, RNA-based Drugs, and Biologics Transform Patient Care (PR Newswire)FDA NEWS RELEASE: FDA Launches Framework for Accelerating Development of Individualized Therapies for Ultra-Rare Diseases FDA illuminates new approval pathway for bespoke gene editing therapies (Fierce Biotech)One Pivotal Trial, the New Default Option for FDA Approval — Ending the Two-Trial Dogma (The New England Journal of Medicine)
Science likes to call itself a meritocracy. Angela Anderson and Brandi Mattson know better. Both served as editors at elite journals (Cell and Neuron), where a single decision could determine who gets tenure, funding, or obscurity. They watched brilliant data get filtered out because the authors did not know the unwritten rules controlled by 5 dominant publishing houses with profit margins higher than Google.In 2020, amid pandemic shutdowns and national reckoning over racial injustice, they co-founded a nonprofit to expose that hidden curriculum. Through the JEDI program, they provide 10 hours of free editorial consulting to scientists who lack access to elite networks. In 1 year alone, 25 awards helped researchers salvage canceled grants, secure NSF career funding, and rebuild careers derailed by rejection.This episode pulls back the curtain on the multibillion dollar publishing engine that profits from taxpayer funded science and reveals who gets heard, who gets sidelined, and how insiders are choosing to redistribute power.RELATED LINKSAngela AndersonBrandy MattsonLife Science EditorsLife Science Editors FoundationCellNeuronNational Science FoundationFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Pushing Forward with Alycia introduces Lynsey Chediak, a disabled woman and rare disease advocate whose lived experience has shaped work spanning government, global health policy, and biotech. Lynsey shares growing up with arthrogryposis alongside an unaffected twin sister, realizing her difference at school, while also navigating chronic pain, limited medical answers, and systems not built for patients. Additionally, she speaks about how insurance barriers before the Affordable Care Act impacted access. Lynsey discusses rare disease priorities, which includes faster diagnosis, better treatment access, and policy change. Her role at BioMarin involves work to remove prior authorization in California and urging listeners to meet their local representatives. She also recounts ignoring neck pain that resulted in surgery, underscoring self-advocacy, and closes with her mantra that people are stronger than what doctors and medical charts suggest. Mindset Shifts & A-ha's ⚡ An Instant Connection
We've spoken with many guests about clinical and technological trends impacting healthcare providers, but less so about the trends on the business side of practicing medicine. So on this episode, we're going to make up for that by spending our time with Dr. Alexander Vaccaro, an influential spine surgeon and president of one of the largest musculoskeletal practices in the U.S. -- Rothman Orthopaedic Institute -- which treats patients at over 40 locations in Pennsylvania, New Jersey, New York and Florida. While Dr. Vaccaro understands the desire for financial stability that's increasingly driving young physicians into the arms of hospital systems, he worries about what's being lost with the resulting decline in the number of independent practices. “If you didn't have private practice advocating for the doctor, the insurance companies would bully the healthcare profession.” Join Raise the Line host Michael Carrese for a candid and lively conversation that also covers: How physician autonomy and entrepreneurship can drive innovation; The economic and policy forces reshaping private practice medicine; The role of research partnerships between private practices and universities. Mentioned in this episode:Rothman Orthopaedics If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast
We love to hear from our listeners. Send us a message.On episode 124 of Cell & Gene: The Podcast, Aurora Therapeutics' CEO Dr. Edward Kaye discusses the company's strategy for translating CRISPR gene editing into scalable, commercially viable medicines for rare diseases. Aurora is initially targeting phenylketonuria (PKU) using a platform approach that leverages shared components, such as lipid nanoparticles and base editors, while customizing guide RNAs for specific mutations. Dr. Kaye explains how trials, regulatory flexibility, and optimized manufacturing could make it possible to treat many genetic variants efficiently and cost-effectively. Ultimately, Aurora aims to build a repeatable model that expands gene editing access to larger rare-disease populations while keeping patients at the center of development.Subscribe to the podcast!Apple | Spotify | YouTube Visit my website: Cell & Gene Connect with me on LinkedIn
Joshua Resnikoff was a bench scientist at Harvard's Wyss Institute, surrounded by cutting-edge science. He believed healthcare could solve anything. Then his son started having unexplained recurring fevers. Monthly ER visits. Ice baths to prevent seizures. Years of diagnostic uncertainty. Finally, a diagnosis: PFAPA, a hyper-inflammatory condition so rare only 500 kids in the US have it. The doctor's response? "There's nothing we can do. It's not terminal, so don't worry about it."That was his red pill moment.On this episode of Ditch the Labcoat, Dr. Mark Bonta sits down with Joshua, founder and CEO of Sunstone Health, to explore what happens when families get trapped in the diagnostic odyssey. Joshua built a platform that compresses a seven-year diagnostic journey into 12 weeks by using AI to find hidden rare disease patients buried in insurance claims data.Dr. Bonta and Joshua tackle the hard questions: What happens when doctors don't know what's wrong? Why does the healthcare system fail zebra patients while teaching doctors to only look for horses? And what role does physician attitude play in solving diagnostic mysteries?If you've ever felt dismissed by the healthcare system or wondered whether AI can actually help real patients, this conversation will challenge everything you thought you knew about precision medicine and patient advocacy.Joshua Resnikoff's Website : https://www.sunstonehealth.com/Episode Takeaways1. The diagnostic odyssey for rare diseases averages 7 years—Sunstone compresses it to 12 weeks using AI and insurance claims data.2. "There's nothing we can do" isn't medical reality—it's often a failure of attitude, not knowledge or skills.3. Rare disease families are desperate for answers, making them vulnerable to predatory experimental treatments and unproven therapies.4. Health plans, not patients, are Sunstone's customers—financial incentives align when undiagnosed kids cost insurers millions in repeated ER visits.5. Doctors are taught "when you hear hoofbeats, think horses not zebras"—but 2% of hospital patients are zebras with no diagnosis after 24 hours.6. Genetic testing isn't just about diagnosis—it's about getting specialty guidance back to local doctors so families don't travel hours for care.7. Patient data ownership matters—families should control their genetic reports and medical records, not insurance companies.8. Expanding from genetic epilepsy into autism, familial hypercholesterolemia, and other rare diseases—the goal is to be infrastructure for all non-oncology genetic disease.Episode Timestamps04:11 – The Red Pill Moment: "There's Nothing We Can Do"07:07 – Building Community: From Desperation to Action11:42 – How Sunstone Works: Finding Hidden Patients in Claims Data19:22 – Seven Years to 12 Weeks: Compressing the Diagnostic Odyssey25:17 – Zebras vs. Horses: When Rare Disease Becomes Your Reality33:46 – The Attitude Problem: Why Doctors Give Up on Diagnostic Mysteries37:48 – Medical Desperation: Experimental Treatments and Predatory Care45:38 – The Future: Expanding Beyond Epilepsy into Autism and BeyondDISCLAMER >>>>>> The Ditch Lab Coat podcast serves solely for general informational purposes and does not serve as a substitute for professional medical services such as medicine or nursing. It does not establish a doctor/patient relationship, and the use of information from the podcast or linked materials is at the user's own risk. The content does not aim to replace professional medical advice, diagnosis, or treatment, and users should promptly seek guidance from healthcare professionals for any medical conditions. >>>>>> The expressed opinions belong solely to the hosts and guests, and they do not necessarily reflect the views or opinions of the Hospitals, Clinics, Universities, or any other organization associated with the host or guests. Disclosures: Ditch The Lab Coat podcast is produced by (soundsdebatable.com) and is independent of Dr. Bonta's teaching and research roles at McMaster University, Temerty Faculty of Medicine and Queens University.
New Zealanders with rare diseases are still waiting for action, Nearly 600 days after the government agreed to implement a strategy to help them. Rare Disorders NZ Chief Executive, Chris Higgins spoke to Corin Dann.
After Friday's news that Center for Biologics Evaluation & Research Chief Vinay Prasad will leave the FDA—again—at the end of April, stocks for several rare disease drug developers popped. UniQure, in particular, was up 51% in premarket trading on Monday. Prasad in a meeting last Thursday with select journalists called the biotech's Huntington's treatment AMT-130 a “failed” therapy, according to STAT News. Shares of Replimune and REGENXBIO—which have suffered rejections during the past year—also rose.One person who is not impressed with the plethora of rare disease drug rejections of late—H.C. Wainwright said in a note Tuesday that there have been at least five cell and gene therapies they believe could have been approved under prior FDA officials—is Wisconsin Senator Ron Johnson. Tuesday, Bloomberg News reported that Johnson has launched an investigation into these recent denials.Johnson called the FDA's request that uniQure conduct a sham surgery-controlled trial of AMT-130 “bureaucratic idiocy,” according to the publication. Meanwhile, uniQure and the FDA appear to be on different pages regarding the design of this prospective trial, with uniQure Chief Medical Officer Walid Abi-Saab referring to a 10-12 hour surgery during which [burr] holes would be drilled in patients' skulls and Prasad claiming on a media call last week that it would require only “one to three nicks in the scalp.”In other news, no episode of The Weekly would be complete without our weekly weight loss segment. Roche and Zealand Pharma's amylin analog fell short of Eli Lilly's rival candidate eloralintide; AbbVie reported what analysts called “competitive” results, with its amylin analog eliciting nearly 10% weight loss at 13 weeks in a Phase 1 trial; and Regeneron touted a much-needed Phase 3 win for Hansoh-partnered dual GLP-1/GIPR agonist olatorepatide in China. Beyond data, Novo Nordisk and Hims & Hers are together again, with Novo striking a deal to sell its injectable and oral GLP-1 medicines through the telehealth provider.Elsewhere on the business side of biopharma, experts are reporting a cut-throat atmosphere behind doors on the M&A front as the supply of companies available to buy dwindles.
Today's episode of Out of Patients welcomes Dr Pamela Buchanan, an emergency room physician with over 20 years inside American medicine who refuses to sugarcoat what the job demands and what it destroys. She worked straight through COVID as protocols changed by the day and deaths arrived faster than anyone could process. She logged 80 to 100 hour weeks. She isolated from her family to avoid bringing the virus home. Over time, survival began to feel negotiable.Dr Buchanan speaks openly about burnout as emotional flatline and about physician suicide as a predictable outcome that leadership prefers to ignore. She describes the ER as the catch all for a broken system and explains why chronic care collapses there by design. She shares the reality of trying to access mental health care while still practicing medicine, calling dozens of therapists, getting nowhere, and spending $10,000 to $15,000 out of pocket just to stay alive and functional.Listeners will hear how neurodivergence shaped her career in emergency medicine, how race and trust intersect inside hospital walls, and why doctors are leaving in waves. This conversation carries clarity, anger, humor, and hard earned truth from someone who stayed long enough to name the damage.RELATED LINKSDr Pamela BuchananStrong MedicineDr Pamela Buchanan on LinkedInDr Pamela Buchanan on InstagramEmotional Flatline articleKevinMD essay by Dr Pamela BuchananFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Today, I'm joined by the extraordinary Dr. Natalie Yivgi-Ohana, a pioneering scientist whose passion for mitochondria unlocks new frontiers in longevity medicine. Our conversation truly blew my mind—Dr. Yivgi-Ohana brings decades of expertise to demystify these tiny, ancient powerhouses that fuel every cell in our bodies, impact our hormones, drive immunity, and, as it turns out, play a central role in how we age. Episode Timestamps: Welcome to the Longevity Podcast and today's focus on mitochondria ... 00:00:00 Maternal inheritance and critical functions of mitochondria ... 00:05:56 Mitochondria as energy producers and hormone regulators ... 00:07:03 Aha moments: mitochondria control life, death, and disease ... 00:08:55 Endosymbiotic theory: how mitochondria originated ... 00:10:19 Chronic disease, aging, and the connection to mitochondria ... 00:16:10 Substrate fuels: carbs, fats, and importance of metabolic flexibility ... 00:20:18 Mitochondria's control over immune system and signaling ... 00:26:39 Mitochondrial transfer: how cells share organelle "powerhouses" ... 00:32:42 Groundbreaking therapy: transplanting mitochondria for rare diseases ... 00:36:40 Expanding mitochondrial therapies to age-related diseases ... 00:42:57 Aging in women: hormones, mitochondria, and inflection points ... 00:51:00 Stem cell exhaustion and cellular renewal ... 00:52:24 Biomarkers: ways to measure mitochondrial health ... 01:03:11 Supplements, lifestyle, and emotional health for mitochondria ... 01:15:47 Medication choices and minimizing mitochondrial toxicity ... 01:24:04 Our Amazing Sponsors: O₃RACLE by Wizard Sciences — A daily ozonated oil capsule designed to support immune balance, cellular communication, and antioxidant production without clinics, machines, or complicated routines; learn more at wizardsciences.com and use code NAT15 for 15% off. Magnesium Breakthrough by BIOptimizers — A full-spectrum magnesium supplement combining seven highly absorbable forms to support sleep, stress, muscle recovery, and nervous system balance in one nightly habit. Save 15% at bioptimizers.com/bionat with code BIONAT Vitali - combines pharmaceutical-grade copper peptides with zero-age exosomes to support clearer cellular signaling and long-term skin resilience, working with your biology instead of forcing change. Visit VitaliSkincare.com and use code NAT20 for 20% off. Nat's Links: YouTube Channel Join My Membership Community Sign up for My Newsletter Instagram Dr. Bill Lawrence Episode
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.
How can electronic capture of clinical outcome assessments (eCOA) help with the unique challenges of pediatric rare disease trials? Florence Mowlem, chief scientific officer of uMotif, joins The Scope of Things to offer her expertise on eCOA, share advice for companies on vetting technology providers, and discuss where sponsors are tripping up when it comes to pediatric rare disease trials. Plus, host Deborah Borfitz brings you the latest news on a possible probiotic for preventing immune system disorders in babies, misunderstood mechanisms of body weight regulation, a promising primary care-based weight management program, GLP-1 drugs potentially benefitting the brain, how patient-reported outcomes can improve clinician adverse event reporting, and a discovery-to-reimbursement model for cell and gene therapies. Show Notes News Roundup Preventing allergies and asthma Study in Nature Microbiology News from the Technical University of Denmark Competing body weight regulation theories Study in Nature Reviews Endocrinology News on the Pennington Biomedical Research Center website PATHWEIGH weight management process Pragmatic study in Nature Medicine News on the University of Colorado Anschutz website Diabetes drugs reduce risk of dementia Study in Drug Safety News on McGill University website PRO data improved side effect grading Study in The Lancet Oncology Blog post on EORTC website Development model for cell and gene therapies Research article in Molecular Therapy, Methods and Clinical Development News on the Lund University website Guest Florence Mowlem, chief scientific officer at uMotif The Scope of Things podcast explores clinical research and its possibilities, promise, and pitfalls. Clinical Research News senior writer, Deborah Borfitz, welcomes guests who are visionaries closest to the topics, but who can still see past their piece of the puzzle. Focusing on game-changing trends and out-of-the-box operational approaches in the clinical research field, the Scope of Things podcast is your no-nonsense, insider's look at clinical research today.
This week’s podcast summarizes some highlights in scientific research and includes a recognition of Rare Disease Week and actions taken by the FDA to ease the criteria for evaluating genetic therapies for rare genetic disorders, the best study to date on the mortality in autism, genetic prediction of outcome in individuals with a diagnosis, and Uta Frith’s commentary on the concept of “spectrum”. https://pubmed.ncbi.nlm.nih.gov/41773580 https://pubmed.ncbi.nlm.nih.gov/41651809 https://pubmed.ncbi.nlm.nih.gov/41661606 https://archive.ph/fPscR
Dr. Barbara Paldus is the Founder and CEO of CODEX Labs, the sponsor of this episode.She grew up around Nobel Prize winners, built biotech manufacturing equipment for vaccines and cancer therapeutics, and then sold her company after an 8 year old threatened suicide.Her son's severe eczema pushed her into an unregulated $100,000,000,000 skincare market where parents are told to trust labels that nobody verifies. She explains how corticosteroid ladders leave patients with years long withdrawal, why U.S. ingredient oversight lags Europe, and how chemotherapy destroys the same skin and gut barriers seen in inflammatory disease.The conversation tracks the real stakes behind “clean” marketing: a child's immune system, hospital infections like MRSA, and patients trying to survive treatment without new damage. She also details the research path from Irish medical manuscripts to microbiome science and why sick populations become the only reliable regulators when policy fails.RELATED LINKSBarbara PaldusCodex LabsSekhmet VenturesDr Peter LioFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
We've had many conversations on Raise the Line about the challenges of health communication in today's world of information overload, but none of our guests have the kind of expertise Dr. Tesfa Alexander has acquired in a career that has taken him from Madison Avenue to the halls of government and academia. From guiding tobacco education research at the FDA to leading public health initiatives at MITRE, Dr. Alexander has developed a deep understanding of the science and strategy behind effective health communication. “Successful campaigns keep the long game in mind where you want to develop a lasting relationship with your target audience,” he tells host Lindsey Smith. That relationship needs to be built on understanding culture, beliefs, priorities and daily realities, and only then can you develop messaging that will resonate, he explains. Dr. Alexander also believes these relationships can be leveraged to help people sort out facts from misleading or inaccurate claims. “I strongly recommend shifting our focus from combating misinformation head on, and instead working with the communities who we are seeking to serve.” This fascinating look at communication science also covers: How stories drive belief; The importance of working with community partners who are trusted messengers; The power of audience segmentation. Tune in as Dr. Alexander unpacks what it takes to influence beliefs, and ultimately behaviors, in an era defined by misinformation and institutional mistrust. Mentioned in this episode:Lerner Center for Public Health Advocacy If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast
Send a textIn this deeply moving episode of unLimited with Elisabeth Carson, Elisabeth sits down with Lina El Zein to share a story of resilience, faith, and unimaginable strength.What started as mysterious symptoms and unexplained panic attacks eventually revealed something far more serious — a rare genetic condition called VHL that affects Lina and her children. For years, she was told her symptoms were psychological. The truth was something entirely different.In this raw and honest conversation, Lina opens up about:• Discovering the diagnosis that changed her life• The moment she learned she passed the condition to her children• Living year to year while holding on to hope• The emotional and spiritual strength it takes to keep showing up every day• Why science, faith, and community give her hope for the futureThis episode is not just about hardship — it's about perspective, courage, and the power of hope even in life's most uncertain moments.Lina's story is a powerful reminder that sometimes our greatest challenges reshape who we become.✨ Watch until the end for a perspective on life that will truly shift the way you see everything.⸻Follow Lina El Zein:Instagram: https://www.instagram.com/linaelzein⸻Listen to more episodes of unLimited with Elisabeth Carson:YouTube: https://youtube.com/@elisabethcarson⸻If you enjoy powerful conversations about healing, resilience, spirituality, and transformation, make sure to subscribe and turn on notifications so you never miss an episode. Support the show
Dr Eugene Manley grew up in Detroit in the 1980s cycling through emergency rooms 20 to 30 times a year with asthma and anaphylaxis while hospital staff talked past his family and buried them in paperwork they could not decode. He responded by earning a BS in mechanical engineering an MS in biomedical engineering and a PhD in molecular biology cell biology and biochemistry. Along the way he tore his ACL training for a jiu jitsu black belt worked 86 straight days in a lab during his doctorate and learned how academic and clinical systems punish people who refuse to shrink.In this episode Manley walks through a recent post surgery ordeal at Mount Sinai Queens where staff falsified records attempted an illegal discharge and nearly sent him home on the wrong blood thinner. He explains how medical racism shows up in charts staffing and decision making and why measurable equity fails without accountability. Listeners hear how his STEMM and Cancer Health Equity Foundation builds pipelines for underrepresented students challenges clinical trial design and teaches patients how to protect themselves when institutions lie. RELATED LINKS• Eugene Manley Jr• STEMM and Cancer Health Equity Foundation• Village Voice• LUNGevity FoundationFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Can a strong U.S. biopharma industry be reconciled with the successful emergence of China? And can China be a catalyst of positive change across the global industry, even if this implies some level of rebalancing away from the U.S.? On the latest BioCentury This Week podcast, BioCentury's analysts discuss a Guest Commentary by McKinsey Senior Partner Emeritus Franck Le Deu, who argues that a multipolar biopharma world in which the U.S. continues to thrive even as China becomes meaningfully stronger can emerge.The analysts also discuss BioCentury's latest Rare Disease Spotlight, which focuses on a wave of therapies aiming to activate retinal function in Stargardt disease patients.Turning to FDA, BioCentury Washington Editor Steve Usdin discusses recent public statements by FDA Commissioner Marty Makary, questions about Vinay Prasad's future, and the plausible mechanism pathway.View full story: https://www.biocentury.com/article/658606 #GlobalBiopharma #ChinaBiotech #RareDisease #StargardtDisease #FDAPolicy 00:00 - Introduction02:47 - Multipolar Biopharma World13:39 - Rare Disease Spotlight25:15 - Makary Remarks31:14 - Plausible Mechanism FrameworkTo submit a question to BioCentury's editors, email the BioCentury This Week team at podcasts@biocentury.com.Reach us by sending a text
Aubrey Masango speaks to Dr Chris Hendriks, Chief Medical Officer at Decentra Health and Chief Community Impact Officer at A Rare Cause to discuss the state of rare diseases in South Africa; the efforts being made to support patients and families. Tags: 702, Aubrey Masango show, Aubrey Masango, Bra Aubrey, Dr Chris Hendriks, Decentra Health, Rare Disease, Bicornuate uterus, Charge Syndrome The Aubrey Masango Show is presented by late night radio broadcaster Aubrey Masango. Aubrey hosts in-depth interviews on controversial political issues and chats to experts offering life advice and guidance in areas of psychology, personal finance and more. All Aubrey’s interviews are podcasted for you to catch-up and listen. Thank you for listening to this podcast from The Aubrey Masango Show. Listen live on weekdays between 20:00 and 24:00 (SA Time) to The Aubrey Masango Show broadcast on 702 https://buff.ly/gk3y0Kj and on CapeTalk between 20:00 and 21:00 (SA Time) https://buff.ly/NnFM3Nk Find out more about the show here https://buff.ly/lzyKCv0 and get all the catch-up podcasts https://buff.ly/rT6znsn Subscribe to the 702 and CapeTalk Daily and Weekly Newsletters https://buff.ly/v5mfet Follow us on social media: 702 on Facebook: https://www.facebook.com/TalkRadio702 702 on TikTok: https://www.tiktok.com/@talkradio702 702 on Instagram: https://www.instagram.com/talkradio702/ 702 on X: https://x.com/Radio702 702 on YouTube: https://www.youtube.com/@radio702 CapeTalk on Facebook: https://www.facebook.com/CapeTalk CapeTalk on TikTok: https://www.tiktok.com/@capetalk CapeTalk on Instagram: https://www.instagram.com/ CapeTalk on X: https://x.com/CapeTalk CapeTalk on YouTube: https://www.youtube.com/@CapeTalk567See omnystudio.com/listener for privacy information.
To mark Rare Disease Day, this special Spotlight episode explores why rare diseases - affecting an estimated one in 17 people in the UK – still face years of diagnostic delays and limited treatment options.Host Sarah Darwood speaks to CEO of LifeArc Dr Sam Barrell and Terry Pirovalakis, whose son Michael has been diagnosed with the rare neurological disorder SPG50. Their discussion looks at the reality of the “diagnostic odyssey”; gaps in data, investment and regulatory pathways; and the financial and structural challenges that limit progress in rare conditions.They also explore the growing role of parents as advocates and innovators, the case for a national rare disease champion, and why a more joined-up approach across government, regulators, industry and charities is essential to delivering faster diagnoses and access to life-changing therapies.This New Statesman podcast episode has been fully funded by LifeArc.Find out more about LifeArc's Taskforce Report and recommendations.LISTEN AD-FREE:
Parenthood doesn't always unfold the way we imagine.In this Rare Disease Day special, Sarah shares her family's lived experience of parenting a child with a rare disease — from diagnosis and grief to resilience and connection. This conversation explores how labels can become tools for finding support, not reasons for hiding, and how A Different Story was created as a community for parents in the Netherlands to be seen, heard, and held.This episode may feel heavy for some — and deeply affirming for others. It is shared with care, dignity, and the belief that no one should navigate this journey alone.
On this episode of This Week in Pharmacy, we spotlight two major conversations shaping the future of pharmacy practice in 2026. First, we welcome Dr. Lisa Faast, PharmD, founder of DiversifyRx, to discuss the Pharmacy Profit Summit 2026 and how independent pharmacies can strengthen margins, diversify revenue streams, and build sustainable growth models in today's reimbursement environment. Then, we turn to Rare Disease Day 2026 with Richard Ferris, PharmD, Chief Commercial & Clinical Officer at PantherRx, to discuss specialty pharmacy leadership, pharmacist impact, and new patient feedback data revealing communication gaps in rare disease care. Segment 1: Pharmacy Profit Summit 2026 Guest: Dr. Lisa Faast, PharmD | Founder, DiversifyRx Dr. Faast joins us to break down the vision behind Pharmacy Profit Summit 2026 — an event designed to equip pharmacy owners with practical strategies to increase profitability while maintaining clinical excellence. Key Topics Covered: • Why independent pharmacies must move beyond traditional dispensing revenue • Diversification strategies including niche services and high-value offerings • Real-world financial benchmarks pharmacy owners should track • How mindset, leadership, and data discipline drive sustainable profitability • The importance of collaboration and shared intelligence among pharmacy entrepreneurs The Pharmacy Profit Summit is not just about revenue — it's about equipping pharmacy owners to compete intelligently in a rapidly consolidating healthcare market. Segment 2: Rare Disease Day 2026 Guest: Richard Ferris, PharmD | PantherRx Rare Pharmacy In recognition of Rare Disease Day 2026, we are honored to welcome Richard Ferris, PharmD, to discuss the critical role pharmacists play in specialty pharmacy and rare disease care. PantherRx recently released survey findings examining patient and caregiver experiences within rare disease treatment journeys. Key Study Highlights: • 90% of patients and caregivers report delays due to communication gaps • 68% report waiting for updates from providers, pharmacies, or insurers • 90% say they manage the care process themselves • 72% desire a dedicated care coordinator • 73% agree it is unclear who is responsible for coordinating rare disease care Despite advances in specialty therapeutics, patients are still asking for the fundamentals: clear communication, coordinated care, and personalized support. Richard discusses: • The growing importance of specialty pharmacists as care coordinators • Why rare disease patients often feel burdened by system fragmentation • How specialty pharmacy can close communication gaps • The need for pharmacist-led continuity in complex therapy management Rare Disease Day reminds us that specialty pharmacy is not only about high-cost medications — it is about human connection, long-term coordination, and advocacy for patients navigating some of the most complex clinical journeys in healthcare. From business sustainability to patient-centered specialty care, this episode reinforces two realities: Pharmacy must remain financially strong to survive. Pharmacists must remain clinically present to lead. As the profession evolves, profitability and patient advocacy are not opposing forces — they are interdependent pillars of pharmacy's future. Listen now and join the conversation shaping Pharmacy in 2026.
It's Rare Disease Week! And the Boston Globe held its second annual Rare Disease Summit, shining a spotlight on the 30 million people living with a rare disease in the US. In this BONUS live recording of Say More, we talk to Boston Children's Hospital head of pediatrics Dr. Wendy Chung about strides in newborn genetic screening, and Bob and Bobby Coughlin, a father and son whose lives have been transformed by a breakthrough cystic fibrosis drug that's changing the outlook for people with the disease. Email us at saymore@globe.com. To sign up for the Boston Globe Events newsletter, click here.
Rare Disease Day Special | Let's Talk RareThis Rare Disease Day, Let's Talk Rare releases a special episode focused on the data and real-world context behind rare diseases.The episode features Iro Malekous, consultant at Partners4Access, who discusses:Key statistics shaping the rare disease landscapeWhat those numbers mean for patients and familiesGaps in diagnosis, access, and treatmentWhy Rare Disease Day remains an important global awareness momentThis episode takes a clear, evidence-based look at rare diseases while grounding the discussion in lived experience.
We're marking Rare Disease Month 2026 by highlighting the powerful story of Shanthi Hegde, a young patient advocate working to transform how bleeding disorders are understood, treated, and supported. This work is fueled by her own arduous journey with two rare bleeding disorders and immune dysregulatory syndrome, and an extended diagnostic odyssey marked by dismissal, underdiagnosis, and structural bias. “I was told many times by many providers that these disorders are not common in Indians and that my bruises were there just because I'm brown.” Admirably, Shanthi pushed past this mistreatment, advocated for her medical needs, and devoted herself to tackling a range of issues confronting rare disease patients from mental health access to affordable drug pricing to research equity. In this remarkable Year of the Zebra conversation with host Lindsey Smith, you'll also learn about: Shanti's work with the Hemophilia Federation of America; How gaps extend beyond treatment to include insurance coverage, provider training, and substance use care; What clinicians can do to improve the work they do with rare disease patients. Join us for a conversation that connects patient voice to system change, and explores what real equity for rare disease communities will require. Mentioned in this episode:Hemophilia Federation of AmericaShanthi's LinkedIn Profile If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast
In this special Rare Disease Day episode of the Brain & Life podcast, co-hosts Dr. Daniel Correa and Dr. Katy Peters respond to your listener questions. They explore how rare diseases can affect relationships, offer guidance on planning for the future, and share tips for explaining complex medical conditions to others. Resources Mentioned In the Mix with Rob Floyd: Lessons on Mixology and Moyamoya What is Pompe Disease? Surviving Stroke: A Story of Perseverance and Grace CADASIL Foundation Pompe Disease News We want to hear from you! Have a question or want to hear a topic featured on the Brain & Life Podcast? · Record a voicemail at 612-928-6206 · Email us at BLpodcast@brainandlife.org Social Media Hosts: Dr. Daniel Correa @neurodrcorrea; Dr. Katy Peters @KatyPetersMDPhD
Living with Angelman Syndrome: Christopher's Story Hosted on Acast. See acast.com/privacy for more information.
Rare diseases are not that rare. More than 300 million people have one of the 7,000 rare diseases around the world, and many more people are affected by the impact on their families. On this podcast we learn more about the personal impact of rare diseases, hear about the World Health Assembly (WHA) Resolution on Rare Diseases which aims to get governments to create action plans, and speak to a private sector company on why it's worth paying more attention to the issue. Hosts: Robin Pomeroy, head of podcasts, World Economic Forum Antonio Estrella, lead, Health For All, Centre for Health and Healthcare, World Economic Forum Guests: Will Greene, board member, Foundation for Prader-Willi Research (FPWR) Alexandra Heumber, CEO, Rare Diseases International: Soraya Bekkali, senior vice president, Europe, Canada & International Alexion, AstraZeneca Rare Disease. Links: White Paper: Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity: https://www.weforum.org/publications/making-rare-diseases-count-how-better-data-can-unlock-a-multitrillion-dollar-opportunity/ Why rare diseases are a proving ground for medical innovation: https://www.weforum.org/stories/2026/01/rare-diseases-and-medical-innovation/ World Health Assembly (WHA) Resolution on Rare Diseases: https://apps.who.int/gb/ebwha/pdf_files/WHA78/A78_R11-en.pdf Related podcasts: How Africa is harnessing tech to deliver healthcare: https://www.weforum.org/podcasts/radio-davos/episodes/africa-cdc-health/ More than just a toothache: how to tackle the huge costs of poor oral health: https://www.weforum.org/podcasts/radio-davos/episodes/dental-oral-health-crisis/ Neurotechnology could help billions of people. Has its time come?: https://www.weforum.org/podcasts/radio-davos/episodes/neurotechnology-jen-french-tom-oxley/ How one global health leader prepares teams for the unexpected: Gavi CEO: https://www.weforum.org/podcasts/meet-the-leader/episodes/sania-nishtar-gavi-preparation-global-health/ Bridging the gap in women's health research, policy and innovation: Kearney: https://www.weforum.org/podcasts/meet-the-leader/episodes/paula-bellostas-muguerza-kearney-womens-health/ Check out all our podcasts on wef.ch/podcasts: YouTube: https://www.youtube.com/@wef Radio Davos - subscribe: https://pod.link/1504682164 Meet the Leader - subscribe: https://pod.link/1534915560 Agenda Dialogues - subscribe: https://pod.link/1574956552
For 30 years, the AOP Health Group has been dedicated to developing innovative solutions to address unmet medical needs, particularly in the fields of rare diseases and intensive care medicine, and notably in cardiology and pulmonology, as well as haemato-oncology and advanced therapies. As Rare Disease Day approaches, in a special episode of the pharmaphorum podcast, sponsored by AOP Health, we spoke with Melissa Fellner, VP of Global Therapeutic Areas, Commercial Operations, at AOP Health, to discuss AOP Health's work in the rare disease space. Fellner describes the unique challenges faced in R&D in the rare disease space, as well as how advanced therapies are changing the treatment landscape, and what the future could hold, in terms of technological innovation and personalisation. What becomes clear is the key role that collaboration plays, from the very early stages of clinical trial design and beyond. You can listen to episode 246 of the pharmaphorum podcast in the player below, download the episode to your computer, or find it - and subscribe to the rest of the series – on Apple Podcasts, Spotify, Overcast, Pocket Casts, Podbean, and pretty much wherever else you download your other podcasts from. About the interviewee Melissa Fellner is Vice President of Global Therapeutic Areas at AOP Health. She holds a Master's in Biology, as well as an MBA from The Rady School of Management at University of California, San Diego. Fellner brings more than 25 years of experience across research, clinical development, commercialisation, and global marketing within the pharmaceutical industry. She began her career in 2000 as a research scientist and moved into clinical trial research in the United States and Canada in 2004 with a global contract research organisation. In 2009, Fellner transitioned into commercialisation consulting, partnering with large pharmaceutical companies on market access and launch strategy. She joined MedImmune, part of AstraZeneca, in 2012 as manager of access services operations, marking her move into the biopharmaceutical industry. In 2017, Fellner advanced into AstraZeneca's commercial organisation, serving as associate director of consumer marketing for respiratory biologics and later as global marketing director for the same franchise. In 2022, she relocated to Vienna and assumed the role of business unit director for respiratory, immunology, and vaccines, with responsibility for strategy, performance, and commercial leadership. Fellner joined AOP Health in 2025, where she oversees the company's global therapeutic areas. In this role, she leads lifecycle strategy development and drives international brand integration across functions and markets to accelerate sustainable portfolio growth. About AOP Health AOP Health is a global enterprise group with roots in Austria, where the headquarters of AOP Orphan Pharmaceuticals GmbH ("AOP Health") is located. Since 1996, the AOP Health Group has been dedicated to developing innovative solutions to address unmet medical needs, particularly in the fields of rare diseases and intensive care medicine. The group has established itself internationally as a pioneer in integrated therapy solutions and operates worldwide through subsidiaries, representations, and a strong network of partners. With the claim "Needs. Science. Trust." the AOP Health Group emphasizes its commitment to research and development, as well as the importance of building relationships with physicians and patient advocacy groups to ensure that the needs of these stakeholders are reflected in all aspects of the company's actions.
Episode #194: In this episode, Kimberly Lovi interviews Stephanie Luciano Novo about Epidermolysis Bullosa (EB), a rare genetic skin disease. They discuss the impact of EB on children and families, Stephanie's personal connection to the cause, and the community's efforts to raise awareness and funds for research. The conversation highlights the advancements in treatments and the importance of community involvement in fundraising events like the plunge. The episode emphasizes the urgency of finding a cure and the inspiring resilience of those affected by EB. Chapters 00:00 Introduction to Epidermolysis Bullosa (EB) 06:06 Personal Connection to EB and Community Involvement 12:08 Understanding the Impact of EB on Families 18:03 The Role of Fundraising and Community Events 23:57 Advancements in EB Research and Treatments 29:54 Call to Action and Community Engagement Follow Kimberly on IG: @kimberlylovi EBRB (EB Research Partnership) https://www.instagram.com/ebresearch/ Matter of Time Film https://www.instagram.com/matteroftimefilm/ Matt Finlin - Director of Matter of Time https://www.instagram.com/mattfinlin/ Eddie Vedder, Pearl Jam frontman, is a co-founder of EBRP https://www.instagram.com/eddievedder/ Jill Vedder - ChairWoman at the EB Research Partnership https://www.instagram.com/jill.vedder/ The official Plunge For Eoldie - Plunge for EB account https://www.instagram.com/plungeforelodie/
Welcome to Episode 088 of the Beyond the Diagnosis Podcast. During Rare Disease Week 2026, we're shining a spotlight on something that moves our community forward in powerful ways: advocacy. On this episode we sit down with Nate Saelinger — a Histiocytosis Youth Ambassador, high school sophomore, and passionate advocate — who went to Capitol Hill to participate in Rare Disease Week with the EveryLife Foundation for Rare Diseases. Diagnosed with Langerhans Cell Histiocytosis as a child and continuing to manage diabetes insipidus, Nate is using his voice to help shape conversations around research funding, policy, access to medication and the future of rare disease care. His story is a powerful reminder that advocacy has no age limit — and that sharing lived experience can drive real change. Let us know what you think! Leave us a review, drop us a comment or share an idea for a future podcast with us at podcast@histio.org. Take a screenshot and tag us @histiocytosis_association on Instagram. We'd love to hear your feedback! Be sure to subscribe so you can be notified the moment a new episode of Beyond the Diagnosis is released. Resources mentioned in the podcast: Rare Disease Week with Every Life Foundation Follow the Histiocytosis Association on social media: Facebook: https://www.facebook.com/histio Twitter: @histiocytosis Instagram: histiocytosis_association YouTube: https://www.youtube.com/@Histiocytosis Music: “Heroes” by Noah Smith
Airing just days ahead of Rare Disease Day 2026, this mdgroup live episode focuses on the voices that matter most in rare disease research: patients and caregivers. Miriam is joined by Sarah Woods, rare disease patient, rare mom, and Founder of the Serenely Guided Foundation for Rare Diseases, for an honest and insightful conversation shaped by lived experience. Drawing on her personal journey and over 20 years of experience as a business and communications leader, Sarah shares why patient and caregiver perspectives must evolve beyond “input” to true leadership roles within clinical trial design. Together, they explore how patient-centricity, when implemented meaningfully, can enhance trial experiences, foster engagement, and ultimately lead to improved outcomes for the rare disease community.
Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Today, we delve into a compelling array of advancements and strategic shifts that are shaping the healthcare landscape across the globe.In recent times, the pharmaceutical and biotech sectors have showcased remarkable resilience and innovation, driving forward with significant scientific breakthroughs and clinical trial results. A standout achievement comes from Novo Nordisk, whose recent Phase 2 trial results for its triple agonist targeting obesity reported a remarkable weight loss of up to 19.7% in patients over 24 weeks. This promising development positions Novo Nordisk as a formidable contender in the obesity treatment market, potentially affecting giants like Eli Lilly. With obesity being a significant global health challenge, these findings underscore the potential of multi-targeted approaches in managing this complex condition.Regulatory landscapes continue to evolve, with pivotal approvals marking milestones for therapies targeting rare diseases. Immedica Pharma's Loargys received FDA approval for treating hyperargininemia associated with arginase 1 deficiency, highlighting perseverance in overcoming regulatory hurdles after a prior rejection. Additionally, Sanofi and Regeneron's Dupixent achieved its ninth FDA approval, underscoring its versatile potential across multiple indications. These approvals not only reflect regulatory progress but also emphasize the critical role of persistence in drug development.Ethical considerations remain at the forefront of industry discussions, particularly highlighted by Novartis' settlement in a lawsuit concerning the use of Henrietta Lacks' cells without consent. This resolution underscores ongoing ethical challenges within biomedical research, emphasizing the need for ethical vigilance as companies increasingly rely on human-derived materials.Significant business trends are shaping strategic directions within the industry. Pfizer's acquisition of marketing rights for Sciwind's GLP-1 receptor agonist in China exemplifies a calculated move to dominate the obesity treatment market. This strategic acquisition allows Pfizer to leverage China's vast market potential for type 2 diabetes medications and positions it favorably for future weight loss treatments.On the manufacturing front, AbbVie has made substantial investments in U.S. infrastructure, committing $380 million to new North Chicago API plants as part of a decade-long strategy to inject $100 billion into U.S. operations. This initiative highlights a commitment to bolstering domestic production capabilities amidst global supply chain uncertainties.The complexities of drug development are further illustrated by Roche's decision to halt the development of Enspryng for Duchenne muscular dystrophy due to unsatisfactory progress. This shift in focus reflects the inherent challenges of drug repurposing and the necessity of robust clinical evidence to support new indications.Geopolitical factors also play a significant role in shaping industry dynamics, with recent U.S. Supreme Court decisions impacting international trade agreements. Such geopolitical influences can significantly affect pharmaceutical companies' operations and strategic planning.The collaboration between Astellas and Vir Biotechnology reflects another significant trend in strategic partnerships within the industry. Their $1.7 billion deal centered on a novel bispecific T-cell engager for prostate cancer underscores the growing importance of immuno-oncology and innovative approaches to targeting hard-to-treat cancers.The regulatory front continues to see transformative changes with the FDA unveiling draft guidance for a new approval pathway tailored for bespoke gene-editing therapies. This initiative could expedite personalized genetic treatments and transform patSupport the show
Jenny Opalinski has spent more than a decade inside hospitals where people lose the ability to speak, breathe, swallow, and sometimes survive. A medical speech language pathologist by training, she worked in ICU, neuro rehab, and long term acute care settings, including a Level 1 trauma center, where she watched clinicians absorb 10 to 15 traumatic events in a single shift and then get told to move the crash cart faster next time.That lived reality pushed her to co found The Wellness Shift, an advocacy and education platform focused on healthcare worker burnout, suicide, and assault. In this conversation, Opalinski walks through the moment that changed everything for her: standing in a hospital hallway listening to a family wail after a failed code, followed by a debrief that addressed logistics and ignored grief entirely.She also explains how that work led to Humanity Rx, her podcast about the human cost of medicine, and Dragon's Breath: Calming Tricks for Big Feelings, a children's book that translates evidence based breathing and regulation strategies into language kids can actually use. The episode covers moral injury, time scarcity, false wellness, respiratory muscle training, and why empathy keeps getting treated as an optional expense instead of clinical infrastructure.RELATED LINKSJenny Opalinski on LinkedInThe Wellness ShiftHumanity RxDragon's Breath: Calming Tricks for Big FeelingsAspire Respiratory ProductsFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
If you've ever felt like healthcare "listens" to patients the way a cat listens to a vacuum… this episode is for you. Wes Michael (Rare Patient Voice) breaks down what it really takes to build a community where patients feel safe, respected, and actually heard and how that trust turns into better research, better decisions, and better outcomes in rare disease. Skot and Wes talk about the company's evolution, why patient time should be compensated, how surveys and interviews turn lived experience into usable insight, and the difference between "collecting data" and "earning truth." You'll also hear why caregivers matter, what advocacy looks like in practice, and how meaningful work scales when you protect the human part of the process. Timestamps: 00:00:00 – Intro & Highlights 00:04:34 – Rare Disease Day and Why This Conversation Matters 00:05:04 – The 12-Year Cycle: Why Wes Chose to Make a Big Change 00:07:41 – Working with Pharma: Where Patient Insight Fits 00:08:19 – Paying Patients for Their Time (and Why That's Respect) 00:09:35 – Surveys, Interviews, and Capturing the Real Story 00:13:26 – Turning Lived Experience into Useful Data and Decisions 00:17:22 – Caregivers: The Missing Piece Most People Overlook 00:23:59 – Lightning Round: Trust Killers, Hiring Lessons, Keeping Promises 00:32:20 – Advocacy, What's Next, and Wrap-Up Website: rarepatientvoice.com LinkedIn: www.linkedin.com/in/wesmichael Instagram: www.instagram.com/rarepatientvoice Facebook: www.facebook.com/rarepatientvoice
In recognition of Rare Disease month we are bringing you a conversation that we first published in May 2024.In this interview, John Crowley shares how his children's diagnosis with Pompe disease propelled him from a concerned father into the rare disease biotech world, ultimately helping develop a life-saving enzyme replacement therapy. He reflects on the journey that followed—building Amicus Therapeutics, advocating for patient-centered innovation, and witnessing his children grow into adulthood with resilience, purpose, and optimism. John is currently CEO of the Biotechnology Innovation Organization (BIO).
RARE MAMAS RISING- EPISODE 55 Plugging Into the Rare Community In this special Rare Disease Day episode of Rare Mamas Rising, Nikki McIntosh reads the chapter "Plugging Into the Rare Community" from her book Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease and reflects on what Rare Disease Day has taught her as a rare disease mom. This heartfelt episode explores the power of the rare disease community, the importance of caregiver support, and why connection among rare moms can change the way we carry even the hardest seasons of rare disease parenting. Whether you are newly navigating a diagnosis or years into your caregiving journey, this episode offers encouragement, validation, and a reminder that no rare mama was meant to do this alone. Links & Resources Mentioned: For more info on Rare Disease Day, check out: https://www.rarediseaseday.org https://rarediseases.org For more support and sisterhood, check out Nikki's new book, Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease. Order the book today at the links below: Amazon Apple Books Barnes & Noble Bookshop.org Books-A-Million IndieBound Indigo Kobo Porchlight Book Info: www.raremamas.com/book CONNECT WITH NIKKI Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com PODCAST INFO podcast@raremamas.com
Few issues have tested public trust in medicine as deeply as vaccines, and few individuals have influenced that dialogue more than Dr. Paul Offit, director of the Vaccine Education Center at the Children's Hospital of Philadelphia and a longtime member of the FDA's Vaccine Advisory Committee. In this timely and candid interview with Raise the Line host Lindsey Smith, Dr. Offit points to this year's severe flu season and a resurgence of measles as alarming proof points of how a changing federal perspective on vaccine policy is having a real impact on public health. “You'd like to think you can educate about the importance of vaccines, but I fear at this point the viruses themselves are doing the educating.” In this wide ranging discussion, Dr. Offit also addresses: The rigorous and painstaking process of developing vaccines, based on his experience co-inventing the rotavirus vaccine. Shifting levels of public trust in scientific organizations. Promising innovations in vaccine development. Don't miss this deeply-informed perspective on the interplay of science, policy, and public education, and his encouraging message to young clinicians about managing the current challenges in public health. Mentioned in this episode: Vaccine Education Center at Children's Hospital of PhiladelphiaPerelman School of Medicine If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast
Sunstone Health CEO Joshua Resnikoff joins Chris Lustrino to explain how Sunstone uses AI on healthcare claims data to proactively identify children with developmental delay—starting with epilepsy and autism—and help families reach the right specialists and diagnostics faster.They break down what claims data is, why the healthcare system is reactive by default, and how Sunstone's approach can compress what often takes years into roughly weeks by flagging high-need cases, coordinating advanced diagnostics, and delivering actionable next steps. Joshua also shares Sunstone's go-to-market strategy (positioned as an employer-paid benefit), why the pricing model is designed to reduce “point-solution bloat,” and how expansion could move across employers, TPAs, reinsurers, and large insurers. 00:00 Needle-in-a-haystack intro03:13 What Sunstone does (AI + claims data)05:32 Flagging patients vs. diagnosing07:21 Employer benefit + privacy model15:54 GTM + sales cycle reality17:57 Outcome-based pricing model20:16 Unit economics ($10k per case)22:11 Expansion paths + other diseases26:23 Fundraise use of proceeds28:03 Investor closing
Sarah Gromko and Matthew Zachary go back to SUNY Binghamton in the early 1990s, when they were barely 19 and living inside rehearsal rooms. She starred in campus musical theater productions. He served as pianist and music director for many of those shows and played rehearsal piano for the THEA101 repertory company. This episode reunites two former theater nerds who grew up and took very different paths through art, illness, and work that still circles the same truth.Gromko trained as a singer and composer, studied film scoring at Berklee College of Music, worked in New York and New Orleans, then moved into healthcare as a speech language pathologist and recognized vocologist. She explains aphasia, apraxia, dysarthria, and dysphagia with clarity earned from the clinic. She recounts helping a 16 year old gunshot survivor in New Orleans speak again using Melodic Intonation Therapy. The conversation covers voice banking for ALS, gender affirming voice care, and the damage caused when medicine confuses speech loss with intelligence loss. The result feels like an epic reunion powered by 1990s nostalgia and sharpened by decades of lived consequence.RELATED LINKSSarah GromkoGramco VoiceMelodic Intonation TherapyFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
When Terry Pirovolakis learned his son had an ultra-rare neurodegenerative disease, SPG50, he refused to accept “no options.” What started as a desperate search for hope became Elpida Therapeutics, a nonprofit driving gene therapy innovation for multiple rare diseases. In this episode, Terry shares the remarkable journey from diagnosis to clinical trials, the power of partnerships, and why urgency matters when every day counts.Show NotesFrom Mystery to Medicine: The Science Behind a Mother's Search | PodcastTaking a Customized and Collaborative Approach to Therapeutic Development | PodcastRare Disease Research for Drug Development | Charles RiverRare Disease | Charles RiverDiscovery | Charles RiverBeyond The Diagnosis
“I do not believe we should be testing to test. We have to know, is this test going to change management and is it going to make a difference,” says pediatric allergist-immunologist Dr. Zachary Rubin. His knack for providing that sort of straightforward guidance explains why Dr. Rubin has become a trusted voice on allergies, asthma, and vaccines for his millions of followers on social media platforms. It's also why we couldn't ask for a better guide for our discussion on the rise in allergies, asthma, and immune-related conditions in children, and how families can navigate the quickly evolving science and rampant misinformation in the space. On this episode of Raise the Line, we also preview Dr. Rubin's new book, All About Allergies, in which he breaks down dozens of conditions and diseases, offering clear explanations and practical treatment options for families. Join host Lindsey Smith for this super informative conversation in which Dr. Rubin shares his thoughts on a wide range of topics including: What's behind the rise in allergic and immune-related conditions.Tips for managing misinformation, myths and misunderstandings. How digital platforms can be leveraged to strengthen public health.How to build back public trust in medicine.Mentioned in this episode:All About Allergies bookBench to Bedside PodcastInstagramTikTokYouTube Channel If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast
Matt Hampton and Dr Tom Ingegno came into my world the way the best guests always do. They found me first. They pulled me onto their Irreverent Health Podcast, a show that blends medicine, curiosity, and unapologetic nonsense the same way Gen X kids blended Saturday morning cartoons with nuclear-war anxiety. We recorded together, we went off the rails together, and by the end I told them the rule. If you ever come to New York, you sit in my studio. No exceptions.They showed up. They took the hot seat. They told Alexa to shut up. They joked about Postmates. They compared bifocals before I even hit record. From there it turned into a full blown eighties time machine powered by weed policy, AI diagnostics, acupuncture philosophy, art school trauma, cannabis data science, paranormal detours, and the kind of deep cut pop culture references only Gen X survivors can decode.Matt builds AI systems. Tom heals people with needles and a lifetime of East Asian medicine. Together they make healthcare funny without pretending it works. They remind you that curiosity carries weight when the system collapses under its own stupidity.This episode is a reunion of three loudmouths raised on Atari, late night cable, and the hard lesson that you either tell the truth or get flattened by it. Go subscribe to Irreverent Health. These guys earned it.RELATED LINKS• Irreverent Health Podcast• Matt Hampton – Consilium Institute• Envoy Design• Dr. Tom Ingegno – Charm City Integrative Health• The Cupping Book• You Got Sick—Now What?• Matt Hampton on LinkedIn• Dr. Tom Ingegno on LinkedInFEEDBACKLike this episode? Rate and review Out of Patients on your favorite podcast platform. For guest suggestions or sponsorship email podcasts@matthewzachary.comSee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.
Both of this week's stories come from Chan Zuckerberg Initiative's Rare As One Project grantees, who share their deeply personal experiences with rare diseases and illustrate how research is so essential in the search for better treatments and cures. (For more stories like these, you can also check out our previous episode The Story Collider produced with Rare As One in 2019, 2021, 2023, and 2024, as well as our Rare Disease playlist.)Part 1: After multiple relapses, Carlos Guerrero-Anderson takes a chance on an experimental treatment for his rare cancer. Part 2: Angie Weaver holds onto an unshakable belief that her daughter, who has a rare SCN2A disorder, will beat the odds. Carlos Guerrero-Anderson is an executive leader and patient advocate committed to amplifying the voices of Hairy Cell Leukemia and rare disease communities. Diagnosed with a rare blood cancer at age 25, Carlos transformed his personal journey into a lifelong mission to advance equity and create inclusive spaces for patients and families. He currently serves as the Director of Multicultural Engagement & Insights at the Hairy Cell Leukemia Foundation, supporting patients through education, outreach to underrepresented communities, data analysis, program promotion, and the sharing of diverse patient stories. With over 20 years of experience in healthcare insights and data-driven communications, Carlos combines strategic expertise with a lived perspective to create and lead culturally responsive programs that strengthen trust, amplify patient voices, and deliver measurable impact across diverse communities. He is an active member of several national patient advocacy groups, and his work has been featured at national conferences, most recently at the NORD Rare Disease Summit 2025. Carlos believes that storytelling is one of the most powerful tools for breaking barriers, building trust, and ensuring that no patient has to fight alone. Angie Weaver is the Director of Philanthropy and Development for the FamilieSCN2A Foundation, whose mission is to accelerate research, build community, and advocate to improve the lives of those affected by SCN2A-related disorders around the world. After her daughter Amelia was diagnosed with SCN2A, Angie became a passionate advocate for rare disease families—sharing her story to advance research, policy change, and awareness. She lives in northern Minnesota with her husband, Josh, and their youngest daughter, Penelope.See 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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