Podcasts about rare diseases

In 2000, Katie Couric underwent a live colonoscopy on national television following the death of her husband, Jay Monahan, from colorectal cancer at age 42. The broadcast demystified a procedure many Americans feared, led to an estimated 20% increase in colonoscopy screenings, and became one of the clearest examples of how public storytelling can change healthcare behavior.This episode examines how celebrities, journalists, filmmakers, and entertainers helped reshape the public conversation about cancer during a period when survivorship was becoming increasingly visible. As breakthroughs in targeted therapies, immunotherapy, and early detection allowed more people to live beyond cancer, public figures used their platforms to encourage screening, reduce stigma, and accelerate research. Their influence extended far beyond awareness campaigns, helping transform cancer from a private diagnosis into a national public health conversation.Central to this story is Laura Ziskin, the Hollywood producer behind Pretty Woman and the Spider-Man films, whose metastatic breast cancer diagnosis inspired the creation of Stand Up To Cancer. Working alongside Couric and leaders from entertainment, journalism, and biomedical research, Ziskin championed a new funding model that required multidisciplinary scientific collaboration, helping accelerate discoveries that contributed to multiple FDA-approved cancer therapies. The episode also highlights the advocacy of actor Patrick Dempsey, whose family's experience with ovarian cancer led to the creation of the Dempsey Center, expanding support for patients and caregivers beyond medical treatment.The story also asks what celebrity advocacy often leaves unsaid. Financial toxicity, caregiver burden, chronic pain, mental health, and the long-term effects of treatment rarely receive the same attention as dramatic diagnoses or breakthrough cures. As cancer survivorship continues to evolve, the greatest challenge may not be convincing people to care about cancer, but helping them understand what it truly means to live with and beyond it.RELATED LINKSStand Up To Cancer⁠Katie Couric Media⁠Dempsey Center⁠American Association for Cancer Research⁠National Cancer Institute⁠Dana-Farber Cancer Institute | Adult Survivorship Program⁠FEEDBACKLike this episode? Rate and review The Cancer Mavericks: A History of Survivorship on your favorite podcast platform. For more information, visit CancerMavericks.com. Please send any questions to podcasts@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

"I'd already finished my cardiovascular unit. I'd finished my pulmonary unit. I had never heard about this in any of my classes." That was Dr. Joel Bervell's reaction to discovering that a device used every day in hospitals -- the pulse oximeter -- reads less accurately on darker skin tones. He posted a 30-second video about this consequential discrepancy that, to his utter surprise, gained over 500,000 views by the next morning. That video launched Dr. Bervell into orbit as a social media presence and created his identity as The Medical Mythbuster. In just a few years, he's built a following of two million people, earned a Peabody Award and was named to the inaugural Time 100 Creators list, all while finishing his residency.  On this episode of Raise the Line, host Lindsey Smith welcomes Dr. Bervell to explore the roots of this kind of bias and the real world impact of drawing attention to it. “The most impactful biases in medicine exist because no one stops to ask who was included in the original data and who was left out,” Dr. Bervell explains. Stay tuned to also learn about: His YouTube animated series The Doctor is In which helps kids understand how their bodies work, as well as providing medical role models; How to build trust with marginalized communities; His forthcoming book, The Default Body which examines who medicine was actually designed for. Mentioned in this episode:Dr. Bervell on InstagramTikTok ChannelFacebook"The Doctor Is In" Show 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 2006, a landmark report titled Closing the Gap: Research and Care Imperatives for Adolescents and Young Adults with Cancer confirmed what young survivors had been saying for years. While survival rates for children and older adults had steadily improved, adolescents and young adults had experienced decades of stalled progress. They had become cancer's lost generation.This episode explores how young adult survivors transformed their shared isolation into one of the most influential grassroots movements in cancer advocacy. Diagnosed during the years typically devoted to education, careers, relationships, and starting families, patients between the ages of 15 and 39 confronted challenges that extended far beyond treatment. Fertility preservation, sexual health, employment, financial toxicity, insurance, and long-term quality of life were rarely discussed in oncology clinics, leaving many to navigate survivorship alone.The episode follows advocates including Tamika Felder, Lindsay Avner, Heidi Adams, Doug Ulman, and Dr. Archie Bleyer, whose research and advocacy fundamentally changed how medicine understands adolescent and young adult cancer. Through organizations including Planet Cancer, Fertile Hope, the Lance Armstrong Foundation, and later Stupid Cancer, survivors built online communities, educational resources, conferences, and national partnerships that challenged long-standing assumptions about cancer care. Their work helped establish fertility preservation as a standard discussion before treatment, expanded research dedicated to adolescent and young adult oncology, and elevated quality of life as a critical clinical outcome alongside survival.The movement also demonstrated the power of lived experience to reshape medicine. Survivors became researchers, educators, nonprofit founders, and policy advocates, insisting that cancer care account not only for years of life saved, but for the lives patients hoped to build afterward.What began as a search for peers evolved into a national movement that permanently transformed adolescent and young adult oncology. Today, dedicated research programs, clinical fellowships, survivorship resources, and patient advocacy organizations continue to build on the foundation these young cancer mavericks created.RELATED LINKSNational Cancer Institute | Adolescent and Young Adult (AYA) Cancer Program⁠Closing the Gap: Research and Care Imperatives for Adolescents and Young Adults with Cancer⁠American Society of Clinical Oncology | Fertility Preservation Guidelines⁠Stupid Cancer⁠Livestrong Foundation⁠Journal of Adolescent and Young Adult Oncology⁠FEEDBACKLike this episode? Rate and review The Cancer Mavericks: A History of Survivorship on your favorite podcast platform. For more information, visit CancerMavericks.com. Please send any questions to podcasts@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 2006, the Institute of Medicine published From Cancer Patient to Cancer Survivor: Lost in Transition, concluding that millions of Americans were surviving cancer only to find themselves navigating a healthcare system unprepared for life after treatment. The report challenged oncology to recognize that curing cancer was not the end of care, but the beginning of survivorship.This episode explores how the growing cancer survivorship movement exposed the long-term consequences of cancer treatment that medicine had largely overlooked. As survival rates improved following the National Cancer Act of 1971, millions of survivors faced chronic fatigue, neuropathy, infertility, cognitive impairment, financial hardship, employment discrimination, anxiety, depression, and post-traumatic stress. These were not rare complications. They became defining features of survivorship for many patients.Drawing on the work of oncologist Dr. Patricia Ganz, survivor advocate Ellen Stovall, and researchers, clinicians, and survivors across the country, the episode examines how survivorship research expanded beyond recurrence and mortality to include quality of life, psychosocial care, rehabilitation, and long-term follow-up. Their efforts helped establish survivorship care plans, multidisciplinary survivorship clinics, and a broader understanding that cancer affects every aspect of a person's life long after treatment ends.The episode also confronts persistent inequities in survivorship care. Insurance coverage often ends when treatment stops, supportive services remain inconsistent, financial toxicity continues to drive medical hardship, and racial, geographic, and socioeconomic disparities still influence who receives comprehensive follow-up care. For many survivors, finishing treatment simply marks the beginning of another struggle.Modern oncology increasingly recognizes that surviving cancer is measured by more than years of life. It is also measured by quality of life, dignity, access to care, and the ability to rebuild a future after treatment. That evolution remains one of the most significant legacies of the cancer survivorship movement.RELATED LINKSNational Academy of Medicine | ⁠From Cancer Patient to Cancer Survivor: Lost in Transition⁠National Cancer Institute Office of Cancer Survivorship⁠American Society of Clinical Oncology | Survivorship Compendium⁠CancerCare⁠HopeWell Cancer Support⁠National Coalition for Cancer Survivorship⁠FEEDBACKLike this episode? Rate and review The Cancer Mavericks: A History of Survivorship on your favorite podcast platform. For more information, visit CancerMavericks.com. Please send any questions to podcasts@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Despite gains in recent years, Black, Hispanic, and Asian communities are still under-represented in the U.S. nursing workforce. We're going to explore that gap and how to close it on this episode of Raise the Line from Elsevier with Dr. Ernest Grant, Vice Dean for Diversity, Equity, Inclusion and Belonging at the Duke University School of Nursing. "You get a patient who is more compliant when they see someone who looks like them, who is from their culture and who can advocate on their behalf," he tells host Lindsey Smith.  Dr. Grant bases that and other insights on a rich professional background that includes 50 years in nursing, being a leading advocate for his profession and breaking down barriers himself as a male nurse of color and the first man elected president of the American Nurses Association.  In this thoughtful conversation, Dr. Grant reflects on what it took to earn credibility in leadership roles, how he's navigating the political climate on DEI initiatives, and the causes and solutions to the persistent shortage in nursing faculty, among other pressing issues. Tune in for a uniquely-informed look at what it will take to build a stronger, more representative nursing profession. Mentioned in this episode: Duke University School of Nursing American 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/podcast

In 1967, breast surgeon Dr. Harold P. Freeman arrived at Harlem Hospital expecting to treat cancer. Instead, he confronted a healthcare system where poverty, racism, lack of insurance, and institutional barriers often determined who lived long enough to receive treatment. Patients frequently arrived with advanced disease, not because medicine lacked answers, but because access to care had failed them.This episode explores how cancer survivorship expanded beyond medical breakthroughs to include healthcare access, health equity, and organized advocacy. Building on the early work of the National Coalition for Cancer Survivorship (NCCS), it examines the recognition that surviving cancer depended not only on research, but also on whether patients could navigate a fragmented healthcare system.Freeman responded by creating one of the nation's first patient navigation programs at Harlem Hospital in 1990. Community-based navigators helped patients overcome practical barriers including insurance, transportation, appointments, communication, and fear. The model dramatically improved timely diagnosis and treatment, increased breast cancer survival in Harlem, and ultimately inspired the Patient Navigator Outreach and Chronic Disease Prevention Act of 2005, establishing navigation as a cornerstone of modern oncology care.The episode also follows cancer survivor Ellen Stovall, whose leadership transformed survivorship into a national policy movement. Through the NCCS, she united advocates across cancer types, fought for insurance protections, expanded access to clinical trials, helped shape the creation of the Office of Cancer Survivorship at the National Cancer Institute, and organized the landmark 1998 National March for Cancer Survivorship in Washington, D.C. Her work reframed survivorship as a public policy issue rather than a personal experience.Together, Freeman and Stovall demonstrated that scientific progress alone could not eliminate disparities in cancer outcomes. Their work established two enduring principles that continue to shape oncology today: patients need someone to help them navigate care, and survivors must have a voice in the policies that govern it. Modern cancer survivorship depends on both.RELATED LINKSNational Coalition for Cancer Survivorship⁠Harold P. Freeman Patient Navigation Institute⁠National Cancer Institute Office of Cancer Survivorship⁠Patient Navigator Outreach and Chronic Disease Prevention Act of 2005⁠American Cancer Society⁠Tuskegee Study Timeline | Centers for Disease Control and Prevention⁠FEEDBACKLike this episode? Rate and review The Cancer Mavericks: A History of Survivorship on your favorite podcast platform. For more information, visit CancerMavericks.com. Please send any questions to podcasts@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Joshua Resnikoff is the CEO and Co-Founder of Sunstone Health, a company using AI to help families of children with developmental delays like autism and epilepsy get answers faster, turning years of waiting into weeks. Top 3 Value Bombs 1. Success is not a lottery ticket; it is a system built through relentless effort, repetition, and commitment to a proven process. 2. Purpose-driven companies can endure challenges because the mission creates resilience, attracts talent, and inspires people to keep going when things get hard. 3. Families facing difficult diagnoses are not alone. Faster answers and earlier interventions can dramatically improve outcomes and quality of life. Check out Joshua's website to learn more. Download the app and explore available resources - Sunstone Health Sponsors HighLevel - The ultimate all-in-one platform for entrepreneurs, marketers, coaches, and agencies. Learn more at HighLevelFire.com. ThriveTime Show - Is your business stuck? Join Eric Trump and Clay Clark's life-changing business conference November 5th and 6th in Tulsa, Oklahoma. ThriveTimeShow.com/eofire.  

Welcome to a very, very, very special bonus episode of Out of Patients, and one unlike anything published on this feed before. For nearly 20 years, Matthew Zachary has handed these microphones to patients, caregivers, doctors, advocates, troublemakers, and people with something worth saying. This time, he handed them to his daughter. Hannah Greenzweig grew up around this show, and now she has commandeered the studio with 3 of her wonderfully creative high school friends to talk about something they built entirely themselves. There is an enormous amount of Dad Pride baked into this episode, along with the strange and wonderful realization that sometimes your kid grows up, takes your chair, takes your microphone, and produces a better show without you.Hannah Greenzweig, Michael Aidinov, Gwendolyn Baldini, and Astronomy are student artists from the Roundabout Youth Ensemble at James Madison High School in Brooklyn. Working alongside teaching artists from Roundabout Theatre Company, they spent a school year creating an original play from the ground up, writing every scene, developing every character, and producing the performance themselves.Instead of discussing a Broadway production, they dissect one they invented.Their play, Subject Matter, began with a room full of improbable ideas. Murderous bounce houses, pirate family sagas, underwater adventures, courtroom dance battles, and birthday parties at math museums all competed before the group settled on an absurd rivalry between New York's fictional History Museum and Math Museum. From there, they built a fully staged comedy about institutional competition, sabotage, oversized personalities, and the unexpected discovery that history and mathematics need each other more than either side wants to admit.The conversation pulls back the curtain on a creative process most audiences never see. The students explain how scenes evolved through constant rewrites, how characters emerged from improvisation, how costumes came together with last minute ingenuity, and how rehearsals often collapsed into uncontrollable laughter. They recount cutting favorite ideas, solving production problems with limited resources, and trusting each other enough to keep rewriting until the story worked.The episode also captures something harder to script: teenagers speaking honestly about collaboration without adults translating their experience. They celebrate classmates who stepped into unexpected roles, teachers who quietly held the production together, and the strange joy of creating something that exists only because everyone showed up.It is a conversation about theater, friendship, education, creativity, and what happens when 4 young artists get the microphones and the adults get out of the way.RELATED LINKSRoundabout Theatre CompanyRoundabout Youth EnsembleJames Madison High SchoolFEEDBACKLike this bonus 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.

The following article of the Health industry is: “The Devastating Impact of a Late Diagnosis in Rare Diseases” by David López García, Former Managing Director for Mexico and CAAC Region, BioMarin Pharmaceuticals México.

A man is struck by a car on the streets of Los Angeles. In the emergency department, a CT scan ordered to look for traumatic injuries reveals something nobody expected: a mass in his colon. Days later, sitting across from Dr. Belinda Waltman, he calls the accident “a blessing in disguise.” Then he changes the subject. He is less worried about cancer than about whether he can afford to miss another day of work. In this season finale of Standard Deviation, host Dr. Oliver Bogler explores what happens when biomedical science collides with the realities of the healthcare safety net. Dr. Waltman, a primary care physician in Los Angeles County, specializes in expedited cancer workups for uninsured and underinsured patients. Every diagnosis arrives carrying another set of questions about housing, transportation, food insecurity, wages, and survival that rarely appear in medical records or scientific literature. For years, Waltman carried those stories without knowing how to bring them into the academic record. As a full-time clinician without a research lab, grant funding, or publication pipeline, she faced barriers familiar to many working scientists and physicians whose most important observations happen outside traditional research settings. With support from the Life Science Editors Foundation's JEDI program, those experiences became The Margins Matter, a narrative medicine essay published in JAMA that argues the social realities surrounding cancer care are not background details. They are part of the disease itself. Bogler traces how editorial mentorship transformed lived clinical experience into published scholarship while asking a larger question about who gets to shape the scientific record. The conversation examines cancer care, Medicaid, health-related social needs, medical publishing, and the structural incentives that determine which stories become evidence and which disappear from view.The result is a conversation about documentation, visibility, and why the margins of medicine often determine who survives long enough to benefit from its advances.RELATED LINKSDr. Belinda Waltman⁠The Margins Matter | JAMA⁠The Margins Matter | PubMed⁠Life Science Editors 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.

What does it take to compete on the world's biggest stage and then pivot to one of the most demanding training paths in professional life? Today's guest, Samantha "Sammy" Kolowrat, has done both, and she has some fascinating insights into the commonalities of those two worlds on this episode of Raise the Line. “Something that really drew me to medicine is the team atmosphere that's there as you work towards a common goal, and there's this level of intensity that's very reminiscent of the experiences I had as a professional athlete.” Originally from Prague, Kolowrat represented Czechia at six IIHF Women's World Championships and the 2022 Beijing Olympics, and also captained the Division I women's hockey team at the University of Vermont while earning degrees in biology and pharmacology.  As she starts an anesthesiology residency at Vanderbilt University, she credits her athletic career with shaping how she handles pressure, feedback, and teamwork in medicine. "The more I improve, the more knowledge I acquire, the more skills I hone, the better care my patients get," she tells host Lindsey Smith, describing what drew her to a field that rewards the same relentless fine-tuning as elite sports. This engaging conversation also explores: How crippling performance anxiety as a Division I athlete ended up preparing Kolowrat for the operating room; Why she was drawn to anesthesiology's "well-oiled machine" atmosphere; The mentorship gap she's working to close for the next generation of athlete-physicians. Mentioned in this episode: Vanderbilt University Anesthesiology Residency Program 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

The following article of the Health industry is: 'The Invisible Patient: The Journey of Rare Disease Caregivers' by David López García, General Director Mexico, Recordati Rare Diseases. 

In 1986, 23 survivors, physicians, nurses, attorneys, and community organizers gathered in Albuquerque, New Mexico, for a weekend that would permanently change the language and politics of cancer. Working late into the night, they debated not only strategy, but identity, ultimately declaring that from the moment of diagnosis, every person with cancer is a survivor.This episode traces the social and political forces that gave birth to the modern cancer survivorship movement. As advances in early detection and treatment allowed more people to live beyond cancer, survivors discovered that finishing treatment did not mean returning to normal life. Many faced employment discrimination, loss of insurance, social stigma, infertility, chronic health complications, and a healthcare system that viewed survival as the end of care rather than the beginning of a new chapter.Against the backdrop of the civil rights, disability rights, and community health movements of the 1960s and 1970s, physicians, activists, and survivors challenged medicine's paternalistic culture and demanded a greater voice in decisions affecting their lives. Central to this story are physician and survivor Dr. Fitzhugh Mullan, whose landmark 1985 essay, Seasons of Survival, redefined survivorship as a lifelong continuum, and community organizer Katherine Logan, whose determination united dozens of grassroots organizations into what became the National Coalition for Cancer Survivorship.The coalition's founding established principles that continue to shape oncology today. Survivors were no longer defined solely by disease or treatment outcomes. Their experiences became evidence. Their voices became essential to clinical research, healthcare policy, and patient advocacy. By redefining survivorship as an ongoing experience rather than a destination, the movement challenged medicine to recognize the lasting physical, emotional, financial, and social consequences of cancer.The ideas forged during that weekend in Albuquerque became the foundation of modern cancer survivorship. Nearly 40 years later, the coalition's defining principle, that survivorship begins at diagnosis, continues to influence cancer care, research, policy, and the way millions of people understand life after cancer.RELATED LINKSNational Coalition for Cancer Survivorship⁠National Cancer Institute Office of Cancer Survivorship⁠The New England Journal of Medicine⁠Americans with Disabilities Act (ADA.gov)⁠Library of Congress | Civil Rights History Project⁠White Coat, Clenched Fist by Fitzhugh Mullan⁠FEEDBACKLike this episode? Rate and review The Cancer Mavericks: A History of Survivorship on your favorite podcast platform. For more information, visit CancerMavericks.com. Please send any questions to podcasts@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Recorded live from BIO 2026 in San Diego, Gil captures a conversation with Craig Martin, Founder and CEO of Orphan Therapeutics Accelerator and Amber Freed, Founder & CEO of the Non-profit, SLC6A1 Connect that is equal parts heartbreak, science, economics, and stubborn optimism. Gil engages two of the rare disease world's most energized advocates immediately following a panel they participated in together on ultra-rare diseases. What emerged was a wide-ranging discussion about the gap between breakthrough science and patient access, the systemic failures that leave life-saving molecules on a shelf, and the personal cost of building a movement from grief.

Our guest this week is Jeremy Warren of Tulsa, OK a graphic artist, founder of DOSA (Dads On Special Assignment) and fatther of six boys, including one with a rare disease.  Jeremy and his wife, Heidi, have been married for 22 years and are the proud parents of six boys ranging in age from 2 to 18 including, their second oldest, Landon (16) who has a rare disease, which was officially diagnosed just a few years ago as PURA Syndrome and a secondary condition known as P-O-L-G, both of which have resulted in severe neurodevelopmental delays and intellectual disabilities, plus a slew of other side effects.The mission of DOSA is to serve dads of children with special needs by providing tools and resources that equip them to become healthier mentally, physically, and spiritually in order to lead their families well and embrace their role as a dads on special assignment.We also learn about a couple of organizations that Landon has benefited from, including:Little Light HouseOK Family NetworkIt's an uplifting story about a father's commitment to family and service to others, all on this episode of the SFN Dad To Dad Podcast.Show Notes - Phone – (918) 269-1409Email –  jw@dosausa.orgDads On Special Assignment - https://dosausa.org/Special thanks to all those who supported the SFN U.S. Tour, a month-long, 50-state, 60+ stop tour that took place from May 21 to June 21, 2026: to strengthen and grow the Special Fathers Network and distribute 1,000+ complimentary copies of our new book: Dads Raising Children With Special Needs & Disabilities: A Guide For 21st Century Dads. Special Fathers Network –SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 900+ SFN Mentor Fathers, who are raising kids with special needs, have said: “I wish there was something like this when we first received our child's diagnosis. I felt so isolated.  There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through.”SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations.Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channel/UCzDFCvQimWNEb158ll6Q4cA/videosPlease support the SFN. Click here to donate: https://21stcenturydads.org/donate/Special Fathers Network: https://21stcenturydads.org/  

In 1971, President Richard Nixon signed the National Cancer Act, transforming cancer research with an unprecedented federal investment and launching what became known as the War on Cancer. The legislation did not emerge from scientific discovery alone. It was the culmination of decades of relentless advocacy by researchers, philanthropists, journalists, and patients who believed cancer demanded the same national commitment that had put astronauts on the Moon.This episode traces the origins of the cancer survivorship movement by returning to a time when cancer was rarely discussed in public, many physicians withheld diagnoses from their patients, and surgery offered few lasting cures. It follows the pioneering work of pathologist Dr. Sidney Farber, whose early chemotherapy research challenged conventional thinking, and Mary Lasker, whose political strategy, fundraising, and public campaigns helped transform cancer from a private tragedy into a national public health priority. Together, they built the coalition that reshaped federal support for oncology research and forever changed the relationship between science, government, and the American public.The story then turns to journalist and breast cancer survivor Rose Kushner, whose refusal to accept the standard one-step radical mastectomy challenged nearly a century of surgical dogma. Working alongside surgeon Dr. Bernard Fisher, Kushner helped bring evidence-based medicine to breast cancer treatment through randomized clinical trials that demonstrated less invasive surgery could achieve equivalent outcomes. Their efforts changed clinical practice, strengthened informed consent, and helped establish the principle that patients should participate in decisions about their own care.The breakthroughs explored in this episode extended far beyond new treatments. They redefined the role of patients in medicine, accelerated clinical research, and laid the foundation for modern cancer survivorship. The movement that followed would not simply help more people live longer. It would change what surviving cancer meant.RELATED LINKSNational Cancer Institute⁠National Cancer Act of 1971⁠American Cancer Society⁠Dana-Farber Cancer Institute⁠National Library of Medicine⁠The New England Journal of Medicine⁠FEEDBACKLike this episode? Rate and review The Cancer Mavericks: A History of Survivorship on your favorite podcast platform. For more information, visit CancerMavericks.com. Please send any questions to podcasts@matthewzachary.com.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

An 11-year-old boy in rural Zambia once told Dr. Genesis Mwamba that he was about to attend school wearing shoes for the first time in his life. That moment, Dr. Mwamba says, crystallized why he started the Lead Me Back Foundation to provide school supplies and other support to marginalized communities in his native country.   As you'll learn in this inspiring installment in our NextGen Journeys series, Dr. Mwamba started the foundation in 2021while still a medical student because he had experienced the power of education as an “equalizer” in his own life, taking him from humble roots to a career in medicine. He and his colleagues have grown the bootstrapped organization to a point where it now provides hundreds of thousands of people across the country with educational access, climate education and community health clinics. “I've always been drawn to opportunities and initiatives that bring help to humankind,” he tells Raise the Line host Dr. Parsa Mohri. This episode also explores: What building "with" a community rather than "for" it looks like in practice; The storytelling strategy that attracted donors and partners; How his mother's untimely death inspired his commitment to preventive medicine.   Mentioned in this episode: Lead Me Back 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/podcast

Long before cancer survivors organized into a movement, Hollywood had already shaped how Americans understood the disease. Films rarely used the word “cancer,” physicians often withheld diagnoses from patients, and the people who survived were almost nowhere to be found on screen.Recorded before The Cancer Mavericks: A History of Survivorship became a documentary series, this bonus conversation explores where the project first began. Matthew Zachary sits down with his mother, Roz Greenzweig, a retired educator and lifelong film enthusiast whose memories of classic cinema became an unexpected lens for understanding how cancer was portrayed throughout the twentieth century.Together, they revisit landmark films including Dark Victory, Love Story, and other iconic portrayals that reflected an era when cancer was treated as unspeakable, inevitable, and almost always fatal. Their conversation contrasts those carefully constructed Hollywood narratives with the lived reality of a family confronting a brain cancer diagnosis in 1995, revealing how popular culture both reflected and reinforced the fears surrounding the disease.The discussion also foreshadows many of the themes explored throughout the documentary series: the evolution of patient advocacy, the emergence of cancer survivorship, the role of caregivers, and the power of storytelling to influence public understanding. Before policy changed, before advocacy organizations grew into national movements, conversations like these were already challenging long-held assumptions about what cancer looked like and who had the right to tell its story.Consider this the prologue to The Cancer Mavericks. Before the movement found its history, it began with a family trying to make sense of the stories they had inherited.RELATED LINKSAmerican Cancer Society⁠National Cancer Institute⁠American Film Institute⁠ER (NBC)⁠50/50 (Official)⁠Chasing Life (ABC Family Archive)⁠FEEDBACKLike this episode? Rate and review The Cancer Mavericks: A History of Survivorship on your favorite podcast platform. For more information, visit CancerMavericks.com. Questions? Email podcasts@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 an untapped army of 200,000 PAs that really could step up and drive some change in the healthcare system if we weren't restricted,” says Dr. Jennifer Kolb, capturing her motivation for pushing to update practice regulations for physician associates that date back more than 50 years.  As Chief Medical Officer and Senior Vice President of Clinical Affairs at the American Academy of Physician Associates, Dr. Kolb has been in the middle of the fight at the state and federal level to grant PAs more independence from physicians, full billing rights, and the increased ability to practice across state lines, among other changes.  In this pertinent conversation with Raise the Line host Lindsey Smith, Dr. Kolb explains how these updates could help close huge gaps in access to healthcare, better manage the fight against chronic diseases and improve patient outcomes.   Dr. Kolb also addresses:  Why the name shift from "assistant" to "associate" took her years to fully appreciate; How a 10-year gap in life expectancy across Chicago zip codes shapes her view of health equity; Why PA's shouldn't wait for permission to start making change in their communities. Mentioned in this episode:American Academy of Physician Associates   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

Chiesi Global Rare Diseases has rapidly evolved from a small, regional rare‑disease business into a global organization, leveraging strategic deals and development bets to reshape standards of care for patients worldwide. Giacomo Chiesi, head of the unit, discusses how the business has grown through acquisitions, its move into CRISPR gene editing and blood–brain barrier‑crossing enzyme platforms, and its broader vision of delivering meaningful quality‑of‑life improvements for people living with rare diseases.

Two years after researchers identified ReNU syndrome, where are we now?   In 2024, two independent research teams identified the genetic cause of ReNU syndrome, a rare neurodevelopmental condition affecting thousands of people worldwide. The discovery marked the beginning of a new chapter for families searching for answers and opened up exciting new avenues for research.  In this episode, host Sharon Jones revisits the story to explore what has happened since that breakthrough. She is joined by: Professor Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at Big Data Institute and Centre for Human Genetics, University of Oxford Christina Cox, Co-founder of ReNU Syndrome UK and parent of a child with ReNU syndrome Dr Ana Lisa Tavares, Clinical Lead for Rare Disease at Genomics England Together, they discuss how researchers around the world have built on the original discovery to deepen our understanding of ReNU syndrome, why studying the non-coding regions of our DNA is revealing previously unknown rare conditions, and how collaboration between researchers, clinicians and families is accelerating progress. They also explore how the growing ReNU community is supporting newly diagnosed families and what the future could hold for new treatments.  Links:  Previous episode detailing the discovery of ReNU Syndrome  ReNU Syndrome UK's website  Original research paper from Nicky's team in Oxford  Original research paper from the team based in New York   “It's been only two years since our paper came out about this, and in that time, there are now patient family groups that have been set up all around the world. There is the one in the UK led by Christina and the others. There's the one in the US that's led by a group of four women, and there are ones in France, Spain, like, literally all around the world. And all of these groups are also somewhat coordinated. The leads of these groups meet with each other. They've organised meetups. I've been to ones in the US, the UK, and in France. So the fact that they can mobilise all of that and create such a community so quickly is absolutely incredible.”  You can download the transcript, or read it below. [00:00:00] Sharon: In 2024, two independent research teams identified a genetic cause of a rare neurodevelopmental condition affecting thousands of people around the world. Since then, that initial groundbreaking discovery has grown into something much bigger, bringing together families, researchers, and clinicians, and building a clearer picture of what we now know as ReNU syndrome.  [00:00:26] Sharon: Welcome to Behind the Genes, the podcast that covers everything from cutting-edge research to real-life stories in genomic healthcare. I'm Sharon Jones, and in today's episode, we're looking at what's happened since that discovery, what researchers are continuing to learn, and what the future could hold for people living with  ReNU Syndrome and their families.  [00:00:46] Sharon: To help us understand more, I'm joined by Professor Nicky Whiffin, Christina Cox, and Dr. Ana Lisa Tavares. So, two papers were published around the same time for this condition. To start us off, Nicky, you worked on one of these papers. Could you explain how this journey first began?   [00:01:05] Nicky: Yeah, so this was two years ago now, back in early 2024, where two research teams, so us based in Oxford and a, a group based in New York, were both looking at the data within the National Genomics Research Library, and we both kind of somewhat simultaneously found that there was variance in this very, very small gene, it's called RNU4-2, were found in individuals with previously undiagnosed neurodevelopmental disorders.  [00:01:39] Nicky: And this was very, very striking because we initially actually identified the same single DNA change or mutation in 40 or so different individuals within the National Genomics Research Library, and we normally expect to see a whole host of different variants. We don't expect to see the same one.  [00:01:59] Nicky: So this was a really, really surprising finding. And it was through a collaboration, large scale collaboration across the world where we started contacting our other collaborators who have similar collections of patients who have been genome sequenced to ask if they had any individuals with DNA changes in this gene.  [00:02:17] Nicky: And we found some in the US, some in, in Australia, some in France and Germany. So very, very quickly built up this, this complete picture of variants in this gene, causing this rare neurodevelopmental disorder   [00:02:35] Sharon: of people finding it at the same time, what, what did that feel like?  [00:02:39] Sharon: Like, give us a ense of, like, that compelling, "We think we found something." What was that like?   [00:02:46] Nicky: I didn't believe it initially. You're always told when you're a scientist that if it looks too good to be true, it's, it's not true, and this basically lit up like a beacon. There's this particularly one DNA change that we found in, um, I think it was about 40 different individuals, and we don't really expect that to be the case.  [00:03:04] Nicky: We normally expect these genetic variants to be somewhat randomly distributed across the genome. So to find 40 individuals with exactly the same DNA change was very, very surprising. So initially, I didn't believe it. The whole team, including folks at Genomics England, spent a lot of time trying to check that these variants were real and tried to disprove the result, tried to find any other way in which any other reason why we would be seeing this.  [00:03:31] Nicky: And after a little while, we had to concede that we couldn't disprove it, so it must be true, and that, that was a very exciting moment.   [00:03:38] Sharon Jones: Was it the case that over in the States, the exact same thing was happening?   [00:03:42] Nicky: I think we found out when we were both speaking at the same conference, actually. So we didn't actually know that we, that we'd both come across the same result.  [00:03:49] Sharon: If you want to check out our previous episode on this initial discovery, you'll find a link to it in the episode description.  [00:04:00] Sharon: So Christina, tell us a bit about your situation, your family situation, and for our listeners, what ReNU is.   [00:04:05] Christina: So ReNU is, to us, is a family. We got a family when we got diagnosed with  ReNU. Beau - Arabella - already had other diagnosises, but people had always said to us, "Oh, there's something else. There's something else.  [00:04:20] Christina: We're not sure what it is, but there will be something." And then when we got  ReNU, it was like, "Oh, okay, amazing. What do we do? What is it?" Because there was only four lines on Wikipedia when we first got told about it, and there wasn't anything that, ourselves could find. So we kind of went onto Facebook and looked for groups and different people, and there wasn't really anything except for Jess in America.  [00:04:46] Christina: And then it grew, and then it kind of, we ended up finding more people in the UK and, like, all over. But for us, it didn't really change how we perceived Beau. It just made life easier. Like, knowing there was other families out there that we could find advice from and support from, and that we kind of knew what we had and going forward then, like, finding researchers and connecting with everybody.  [00:05:15] Sharon: Yeah. And for those who don't know, can you talk about what  ReNU is? Like, how does it affect Beau?   [00:05:20] Christina: So with Beau and  ReNU , it affects her with developmental delay. She's non-verbal. She's incontinent. She suffers for walking, so she can do a little bit of walking, but she needs a wheelchair It affects her mood swings.  [00:05:38] Christina: It just affects everything. Although she has it, she's still a happy, outgoing, very stubborn, just kind of "keep-going" child. But it affects her in everything, like eating, sleeping.   [00:05:51] Sharon: It sounds like life is, you know, very challenging on a day-to-day basis, lots of considerations. How did you feel when you finally got this diagnosis after years of wondering and waiting, not knowing?  [00:06:02] Christina: Finding out was, like, really emotional because it was like, "Oh, wow, so we have this diagnosis. Now what? What are we looking for? What's going to happen?" And then we were kind of like, "Oh, but there's not many people that had it." Because we found out in the August, so then it was trying to find people. But it has been life-changing to know that we're not on our own and that there is other people around.  [00:06:28] Sharon: Yeah, tell us a bit more about that. How did it feel to get that diagnosis?   [00:06:32] Christina: It was quite strange because our pediatrician rang us and said, "Oh, we've got a diagnosis. She's got RNU4-2." And we were like, "Okay, so what's that?" And she's like, "I don't really know. There's four lines on Wikipedia at the moment."  [00:06:46] Christina: She goes, "I don't like Wikipedia," but we still kind of... That was it. So then we went on a mission to find and look for where we could find support and find other families.   [00:06:58] Christina: At that point, I didn't know of anybody in the UK, and my husband found Jessica in America. What then, kind of, we had somebody to talk to, and then families in the UK kind of started appearing.  [00:07:09] Christina: So we ended up getting a whole network of people to bounce ideas off and talk about how it affects their children and what's for the future and things like that. It was really nice.   [00:07:22] Sharon: Yeah, yeah, I can imagine. So Ana Lisa, how do these findings contribute to a growing understanding of the condition?  [00:07:29] Ana Lisa: So this was an amazing discovery. Although we're finding new rare conditions quite often, not on this sort of scale. It was also an amazing finding because a lot of the genes that we know are associated with rare conditions are genes that encode proteins, and in the 100,000 Genomes Project, we were doing whole genome sequencing, and Nicky and her team were looking in the parts of the genome that don't encode for proteins.  [00:08:03] Ana Lisa: And so this was, uh, exciting from that point of view as well. So the vast majority of our genome, more than 98%, does not encode for proteins, but it's relatively unexplored. And if we think about our genome and the letter code that makes it up, which is the manual for how our bodies are built, and grow and function day-to-day.  [00:08:30] Ana Lisa: Those 3 billion letters, if you, if you printed them out in a 12 font regular print, it would stretch so far you could fly, I think, from London to Paris several times, maybe three times or something. And so, this actual gene is a very, very small gene, less than 150 of those letters. So again, it was incredible to find that by comparing across many, many different genomes in the National Genomic Research Library.  [00:09:00] Ana Lisa: Going back to your question about a growing understanding of a condition, it was a completely new condition, but it also opened up looking at other related genes and actually now more disorders that are being found, like RNU2-2 by colleagues in the US, and that might be one of the most common recessive genetic neurodevelopmental disorders.  [00:09:27] Ana Lisa: So it's really, really opened up this understanding about these types of disorders and also those non-coding parts of our genome and the power of collaboration and being able to look across many different whole genomes at the same time.   [00:09:44] Sharon: Yeah. And Nicky, you've been involved in much of this research journey.  [00:09:50] Sharon: What have been some of the biggest advances or learnings for you so far?   [00:09:55] Nicky: I think the biggest one is just how common, or how frequent, these disorders are. So what we discovered recently in terms of new genetic disorders were rarer and rarer conditions, and that's why we hadn't seen them before. But from going from looking at the protein coding genes to looking at these non-coding genes, we found something that was as frequent as disorders that were found in the early 2010s when we first had large-scale sequencing projects that looked at the protein coding genes.  [00:10:26] Nicky: So that was really, really surprising. And we now know there's this whole class of disorders. So RN4-2, this gene encodes this -- Well, it produces this small RNA that works in this huge molecular machine that is called the Splicer Zone, that mediates the processing of most of the other genes across the genome.  [00:10:50] Nicky: And there are lots of these little RNAs that work in this molecular machine that are called the small nuclear RNAs or the snRNAs And we now know that there are a whole multitude of different disorders associated with different ones of these spliceosomal small nuclear RNAs, and that's really incredible.  [00:11:09] Nicky: And for RNU4-2 itself, we also now know that there are, there's not just RENE syndrome, uh, which is a dominant disorder caused by chance de novo variants that are newly arisen in a child, but also a recessive disorder where a child inherits one, uh, gene mutation from each parent. And also another finding that there is a region of the gene where we find DNA changes that cause retinitis pigmentosa, so a retinal phenotype. So we now know a huge amount more about this single gene, but also all of this different class of genes or RNAs that work in the same molecular machine, uh, which is, is really fascinating biologically   [00:11:52] Ana Lisa: Vicky, while you were talking, I was thinking about the splicing and how a bit like this podcast recording, you're going to splice out the kind of extreme, the noise that wasn't supposed to be there.  [00:12:03] Ana Lisa: And actually, you could make slightly different versions of this podcast, couldn't you? And that's, that's what, what's happening in our bodies for a lot of our genes that, that the kind of output can be varied slightly.   [00:12:15] Sharon: So Christina, how has collaboration been involved across the community and with researchers?  [00:12:21] Sharon: You know, what sort of things have you been doing?   [00:12:23] Christina Cox: So it's amazing to have researchers that are so open and amazing to work with the families. So at the moment, we are just putting together like a panel to discuss questions from families, to then be able to answer families, to work very closely with the researchers for what things are happening and the progress within.  [00:12:47] Christina: It's just amazing to be able to work with researchers. They're just fantastic.   [00:12:52] Sharon: And from what I understand, like, you, you have a charity, don't you? Can you tell us a bit more about that and how that came about?   [00:12:58] Christina: So we have ReNU Syndrome UK, and it came about as there was a group of us parents that were like, we wanted to be able to support other families, knowing what it was like for us when we first started.  [00:13:12] Christina: It was very difficult. So we wanted to start a charity that can support families and signpost them, give them the opportunity to have family meetups once or twice a year, so we can work with scientists and specialists to keep everybody in the community, like the ReNU family, up to date. But being able to connect with so many families, because a lot of the doctors don't really know of ReNU Syndrome yet.  [00:13:46] Christina: So if we have a problem or a question, we put it in the WhatsApp group, and then somebody can answer it because they've been through it, or they, they've just asked the question. So it's just an amazing resource for everybody   [00:14:02] Sharon Jones: That sounds amazing, and it sounds like you've all obviously become experts by experience.  [00:14:04] Sharon: So, like you say, you kind of know more, you know, as the science develops, but you're living it every single day   [00:14:10] Christina: It's kind of, you go into the hospital and they're like, "Oh, what's ReNU Syndrome?" And then you're like, "Ugh." So, then you just have to say it all. But, and then it's kind of them bringing, teaching new people who don't know about it in the medical professional.  [00:14:26] Christina: We always give them the website so that they can go and then find, but being able to put more medical stuff on the website, it just helps everybody, and it's just broadening it out to as many people as possible. Because there's still a lot of people undiagnosed with RNU syndrome. It's, now it's easier to be signposted, but it's just keeping that connection.  [00:14:49] Sharon: Yeah. And, and from what I understand, it's got quite an interesting sort of origin of a name, RNU. Where did that... Do you know much more about where that came from?   [00:14:57] Christina: So, Nicky is the amazing person who, um, sorted the name and um, the origin. So, I'll pass that over to Nicky to answer that question because she's just amazing   [00:15:11] Nicky: Uh, so the name ReNU syndrome is an interesting story.  [00:15:13] Nicky: So, a lot of disorders or diseases are named after people. So, we all know Alzheimer's, Parkinson's, etc. And they're often scientists or clinicians that have spent a lot of time working on them. I think that's a little bit odd. I don't think it's the first thing that somebody should know about a disorder, is the name of somebody who's, who's worked on it or studied it.  [00:15:36] Nicky: But they're a very, it's very hard to find an alternative. When we were initially doing the press release around our paper, we had a quote from one of the mothers, Nicole Cedar, who has a, a wonderful daughter called Mia Joy, and she said that within their family, they like to refer to RNU, to RNU4-2 as ReNU, which is a really nice play on the RNU in the gene name.  [00:16:00] Nicky: So then I had an idea, okay, let's just change the spelling to make the, the kind of big R, little E, large N-U, then it would link to the gene name, but also would be a name that speaks to hope and the renewed hope of being given a diagnosis.   [00:16:13] Sharon: Yeah, absolutely, and that's a great, a great story and a great way of kind of making it feel like there is, there is always hope.  [00:16:20] Sharon: So, you know, Nicky, you're now part of the patient community. In a way. You know, so how does it feel to be on that other side of it from that sort of research perspective and now kind of, you know, in that, in that community?   [00:16:34] Nicky: It's amazing. I've got a new family as well. It's not, not just Christina and everybody.  [00:16:39] Nicky: I kind of, I'm a, a basic scientist. I'm not a clinician. Up until this point, we've always been one or two steps removed from actually interacting with the families themselves. Um, so my life has changed an awful lot over the last couple of years, uh, where now, um, I kind of talk to Christina or the folks in the US, really regularly, kind of on a weekly basis.  [00:17:02] Nicky: Um, so that's really different. And I just kind of want to highlight just what these families have achieved. So it's been only two years since our paper came out about this, and in that time, there are now patient family groups that have been set up all around the world. There is the one in the UK led by Christina and and the others.  [00:17:26] Nicky: Um, there's the one in the US that's led by a group of four women, and there are ones in France, Spain, like, literally all around the world. And all of these groups are also somewhat coordinated. The leads of these groups meet with each other. They've organised meetups. I've been to ones in the US, the UK, and in France.  [00:17:46] Nicky: So the fact that they can mobilise all of that and create such a community so quickly is absolutely incredible. And they've got families, they've got so many researchers that are interested in the cause. They're interacting with the pharma companies. They've upskilled themselves to learn so much about genetics.  [00:18:04] Nicky: And it's just an absolutely incredible thing to watch. They're so, so inspiring.   [00:18:09] Sharon: And from what I understand, Christina, you feel, you know, very passionate about Nicky in the same way, about your paths crossing in this way.   [00:18:16] Christina: Oh, my, yes. Every time I see Nicky, I've met her a couple of times, like, in person now, I just cry.  [00:18:22] Christina: I literally, we saw her at the UK meetup, and she walked in the door, and that was it. I was done. I was like, it's just meeting somebody who has changed so many lives and brought a community to other families. It's just amazing. And the support that Nicky's giving us weekly, daily, is just amazing. It is just life-changing for all of us.  [00:18:49] Sharon Jones: It's such a powerful connection. So Ana Lisa, why is collaboration between researchers, clinicians, and families so valuable in the rare disease research space? You know, and what role do large scale research projects and data sharing play in discoveries like this?   [00:19:06] Ana Lisa: Collaboration is completely incredibly valuable and for progress in the rare disease space where there's just so much still to learn.  [00:19:16] Ana Lisa: So more than half of patients and families where, uh, they're seeking a potential diagnosis, we're not yet able to, to find one, and there's so much yet that we still need to learn, and collaboration in so many different spaces and directions and across different spheres enables this progress. So for example, the fact that we have a really connected, uh, National Health Service and really close working between the NHS and Genomics England so that we can, for those patients and families that, that consent to their de-identified data being shared in the National Genomic Research Library, be able to work with many, many different researchers, uh, whether they're academic, institutions, industry, and try and find all the patients that could benefit from a new diagnosis and, uh, potentially new therapies in future clinical trials.  [00:20:21] Ana Lisa: And without that collaboration, it would be really, really hard to find all those people So because we sort of have a clinical research interface where we can go back to clinical teams and therefore to patients and families, even if there's a really, really ultra-rare condition with very few people known to have it that could be under different specialties in different regions, we would be able to contact their clinical team.  [00:20:51] Ana Lisa: So I think that, that collaborative working with the NHS is really powerful across researchers worldwide. Like in this example where a group in Oxford and a group in US were able to make this finding and then all the other findings that are coming from it. And really, without being able to compare across thousands of genomes, one wouldn't have been able to see this, this particular signal and see that there were more than 100 patients, and that was really powerful.  [00:21:20] Ana Lisa: If you just had one genome, you could never have made this novel discovery. I think the other thing is that, and Nicky will say that, you know, she, she then contacted her collaborators who also had access to, to, to data that had been shared by other families and could compare. And again, it's a whole sort of network across the globe.  [00:21:41] Ana Lisa: And we know that there are going to be many more diagnoses to be found. But also, um, I think collaboration will allow us to find new, new treatments. So if we can start to design treatments that target the DNA and RNA at, at source, then actually you could collaborate and say, "Well, this type of genetic mechanism could be targeted in the same way, potentially across even more than one rare condition and reach even more patients."  [00:22:13] Ana Lisa: And actually the power of collaboration across the ecosystem is that hopefully we'll end up with a pathway that can actually go from finding a new genetic finding, like Nicky and her team made, to helping all the people who could benefit from a diagnosis, having one, and then can one develop a treatment and get it to as many patients?  [00:22:42] Ana Lisa: And, and I think that will really demonstrate the power of collaboration.   [00:22:47] Sharon: Yeah. Absolutely, and it can only, you know, benefit those families who have to wait such a incredible amount of time.   [00:22:55] Ana Lisa: There's been such a diagnostic odyssey, and as more diagnoses are made, it becomes obvious that there's, uh...  [00:23:03] Ana Lisa: and it was, it's already well-described, the therapeutic odyssey. Um, but hopefully these sort of novel understanding of our genome and opening up new biological avenues to treat, um, hopefully will also enable many more new treatments to be developed.   [00:23:21] Sharon: Absolutely, and that is the key word there is, is that hope.  [00:23:24] Sharon: So, so looking ahead, Nicky, what developments are you most hopeful about over the next few years?   [00:23:31] Nicky: That's a difficult question. There's so much, so much happening. One thing is that we are gearing up to do large scale studies across the world to understand more about the progression of ReNU. So you might call them large scale natural history studies or just large scale profiling studies where we can do a range of different tests on ReNU patients and, and monitor them over time.  [00:24:02] Nicky: So do those at regular, regular intervals over time so we can see what the progression looks like. And that's really important for trying to think about whether we can treat RNeU syndrome. And on that note, I'm very also excited about the potential for therapeutics. There's lots of people all around the world, both, uh, in academic settings, but also in pharma companies trying to work out whether this is something that we can treat.  [00:24:30] Nicky: There's some very promising early data to show that we can selectively remove the RNA containing the mutation from cells, uh, leaving the copy of the RNA that doesn't contain the mutation intact so that can do the correct function. And biologically, we think this should be an effective treatment.  [00:24:54] Nicky: Um, so we can do that in cells in a dish. We don't yet know whether we can do that in a patient with ReNU. Uh, but that's really, really promising early data. Um, so I'm very hopeful about where that, those studies might lead.   [00:25:08] Sharon: And Ana Lisa, what role will genomics continue to play in improving understanding and care for rare conditions like this?  [00:25:15] Ana Lisa: So following on from what Nicky said, I think the really big hope is that we will be able to develop many, many new treatments collaboratively across the world. And whether these are individualised treatments made for one patient but then shared because we can find perhaps other patients who could benefit from the same treatment, whether we understand the genetics better so that we can design treatments from the start that will work for a lot of patients.  [00:25:46] Ana Lisa: So I think there will be sort of fancier and fancier ways of targeting rare conditions. And right now we're in a phase where the ecosystem is trying to work out how could we make an end-to-end pathway with initiatives like the Rare Therapies Launchpad in the UK, and that's going to require truly collaborative working.  [00:26:08] Ana Lisa: No single organisation can do that. And I think having these incredible use cases will be really powerful for turbocharging the development of these pathways. And the hope is that once you've worked out how to do this across a range of different rare conditions, that one might reach a stage where one could do that a lot faster for many other rare conditions.  [00:26:35] Ana Lisa: Because at the moment they're so underserved in terms of treatments available and there's a huge gap between being able to make a genetic diagnosis and then having treatments. The big hope is that understanding the genetics better will help to open up new pathways to treatment. I do hope that we'll also understand other aspects.  [00:27:02] Ana Lisa: So for example, it might be that understanding the genetics better also helps us to understand different ways a condition might manifest in somebody, why it may be different from one person to another, why somebody might be more mildly affected and somebody perhaps more severely. And that might, may also help us to understand ways to treat a condition by getting, gaining these insights which are, are useful in and of themselves and may also lead to new therapeutic, uh, possibilities.  [00:27:36] Ana Lisa: I think that would be one of my hopes that a lot of these areas overlap and lead to real benefit for patients and families, that we can translate that hope into concrete improvements in treatment for rare conditions.  [00:27:57] Sharon: Do you have a sense of time, how long you think this could all take, that amount of collaboration?  [00:28:06] Ana Lisa: Yeah, and I think this is actually another reason why sometimes it's quite tricky to make progress in this area because being able to predict those timelines is notoriously difficult when you look back historically. I'd like to hope that we're on the cusp of having an explosion of novel treatments that can target DNA and RNA, for example, or treatments that target something in the underlying biology that we now understand that we didn't before.  [00:28:34] Ana Lisa: And I do think that there is going to be a big shift. But I think that the sort of confidence intervals around how big that range of time might be is very hard to predict. And that's why I think Christina and Nicky being able to share these stories and about their collaborative working really shines a spotlight on, on what could be done and how progress can happen.  [00:29:02] Ana Lisa: That's really exciting. The other day at a conference, someone from industry stood up and said, "Oh, actually, we set up a clinical trial in the UK because we knew there were patients who could benefit from our work in the National Genomic Research Library," and that was really exciting for us because that's what we want to do; move forwards the opportunities for treatment for patients.  [00:29:28] Sharon: And so finally, Christina, as a parent and member of this community, what are your hopes for the future, and what would you say to families who may still be searching for answers today?   [00:29:39] Christina: It is a long journey, but there is the support and the help out there. If you have any inclination that you think you might have ReNU, reach out to your paediatrician or your doctor to see if you can get your genetic testing done because it's fighting to get the test, to go to people and say, "I think this is what we may have. Can we look into getting it tested?" And reach out to other families and the website and things because it's all about community and supporting and helping people find that diagnosis.   [00:30:16] Sharon: Thank you, Christina, and we'll put the website in the episode description. A huge thank you to Professor Nicky Whiffin, Christina Cox, and Dr. Ana Lisa Tavares for joining me today and sharing their insights and experiences. To learn more about ReNU Syndrome, visit renusyndromeuk.org. If you'd like to hear more stories about the people, research, and discoveries helping to shape the future of healthcare, subscribe to Behind the Genes on your favourite podcast app.  [00:30:45] Sharon: Thank you for listening. I've been your host, Sharon Jones. Behind the Genes is produced by Deanna Barac, Florence Cornish, Sophie McLachlan, and Katie Revell at Bespoken Media. 

Rebecca Bloom is a former employee benefits and executive compensation attorney who spent more than 25 years helping women navigate cancer, work, insurance, disability coverage, and financial survival. She is the founder and author of When Women Get Sick, a book built from decades inside the legal, workplace, and patient advocacy systems most people only discover after diagnosis.Bloom started in Big Law at Simpson Thacher handling employee benefits and compensation work she originally chose to pay off student loans. Then her mother was diagnosed with breast cancer. Suddenly the language she used in corporate law offices became the language of survival at home. Explanation of benefits forms. Coverage disputes. Second opinions. Disability protections. Medical leave. Bills no one could explain.That collision changed the direction of her life.In this episode, Bloom explains how serious illness quietly turns patients into unpaid administrators managing paperwork, logistics, financial risk, and emotional labor while trying to survive treatment. She breaks down how employer based health insurance shapes nearly every aspect of cancer care in America and why women often carry the invisible burden of protecting everyone else from discomfort while they themselves fall apart.The conversation digs into workplace power, the illusion of the healthcare “safety net,” caregiver exhaustion, and the class divide hiding underneath patient empowerment culture. Bloom explains why educated, insured women with resources still struggle to navigate healthcare bureaucracy and what happens to patients without those advantages.This episode explores cancer care, health insurance, employee benefits, patient advocacy, workplace protections, caregiving, and the structural incentives that force sick people to become project managers of their own survival.RELATED LINKSRebecca BloomWhen Women Get SickBay Area Cancer ConnectionsSimpson Thacher & BartlettFEEDBACKLike 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.

Most adults who smoke want to quit, and about half try to do so in any given year, yet fewer than one in ten succeed. That persistent gap between intention and outcome is one of the central challenges in public health, and it's exactly the kind of problem that calls for new thinking about how to communicate with people to support behavior change.  Dr. Amanda Graham has been a leading force in doing just that in her role as chief health officer at Truth Initiative, the nation's largest non-profit public health organization dedicated to preventing addiction among young people and helping people of all ages to quit tobacco. On this episode of Raise the Line from Elsevier, Dr. Graham, who holds a PhD in clinical health psychology and has done 25 years of NIH-funded research focused on technology-based cessation interventions, helps us understand the interplay between behavioral science and digital communications in the field. "A well-timed message can really be powerful in interrupting what for many people is kind of an automatic behavior, especially via text, which data tell us is an extraordinarily powerful modality,” she explains to host Lindsey Smith.  Tune-in to understand where the field is heading, and to learn about: Why "push" technology may work better than apps and websites when it comes to breaking automatic behaviors; How the rise of e-cigarettes, nicotine pouches, and heated tobacco has scrambled decades of public health messaging; How highschool smoking rates plunged from over 30% to less than 2%. Mentioned in this episode: Truth Initiative Program with Mayo Clinic 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

Lyndsay Hoy, MD, was just beginning her first week of anesthesia residency at the Hospital of the University of Pennsylvania when she was received a life-altering diagnosis: lymphangioleiomyomatosis (LAM), a rare and progressive lung disease that predominantly affects women of childbearing age. Diagnosed within 36 hours of experiencing symptoms, Hoy embarked on a journey defined by the dual roles of clinician and patient — a dynamic that profoundly influenced every aspect of her life. From her marriage to fellow physician Vincent Hoy, to her decision to pursue IVF and embryo preservation, to her advocacy for rare disease patients, and her leadership as Chief Mission Officer of The LAM Foundation, her experiences have shaped her path and purpose. In this episode, Hoy speaks with host Mike Sacopulos about the challenges of managing an invisible illness while navigating a demanding clinical career and the structural inequities that determine who gets diagnosed and treated for rare diseases. She also reflects on a chapter she co-authored with her husband for AAPL's recent book on dual-physician marriage. Learn more about the American Association for Physician Leadership at www.physicianleaders.org.

Vasanta Pundarika built her career inside healthcare investment banking before launching Lotuspring, an advisory firm focused on women's health and behavioral health. She spent nearly 20 years advising healthcare systems, treatment providers, and growth stage companies on mergers, financing, and operational strategy while watching the industry repeatedly misunderstand the people it claimed to serve.The conversation starts unexpectedly with anthropology, bread, and language. Vasanta explains how she spent years changing the pronunciation of her own name to make other people comfortable before eventually reclaiming it. That thread opens into a much larger discussion about adaptation, identity, and what institutions quietly train people to tolerate.From there, the discussion moves into behavioral health, women delaying care, and the invisible labor that healthcare business models routinely ignore. During COVID, Vasanta noticed men's behavioral health units refilled faster than women's units. The reason had nothing to do with demand. Women were still home managing caregiving responsibilities, children, aging parents, and households while their own mental health collapsed in the background.The episode examines what happens when healthcare companies become “snazzy big brands” before building real clinical substance underneath. Vasanta describes the tension between mission and margin inside healthcare startups, private equity backed care models, and behavioral health expansion. The conversation pushes on who benefits when healthcare scales aggressively, who absorbs the operational pressure, and how patient trust erodes long before executives notice it on a dashboard.They also discuss patient advocacy culture, anthropology as systems analysis, healthcare capitalism, prior authorization, investor language, and why some clinically excellent companies never survive long enough to scale.RELATED LINKSVasanta PundarikaLotuspringWomen's Health HorizonsSakhi for South Asian SurvivorsNACDPrinceton University Anthropology DepartmentFEEDBACKLike 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.

"I always remember feeling like I was part of the clean plate club," says Dr. Christle Guevarra, recalling a childhood spent quietly convinced that her weight was a matter of willpower. That belief followed her through a competitive powerlifting career and medical practice until she finally tried a GLP-1 medication herself and, as she describes it, the constant mental noise around food quieted down. Now a board-certified family and sports medicine physician, traveling team doctor for U.S. Figure Skating, and author of The Beginner's Guide to GLP-1s, Dr. Guevarra brings a rare combination of clinical authority and lived experience to the conversation around obesity medicine.  In this episode of Raise the Line from Elsevier, host Lindsey Smith talks with her about what's actually changed in how physicians understand the issue and what it means for patients. "The biggest thing is reframing how we approach weight loss. It's not just a willpower problem, it is a neurobiological problem." Tune in to learn about: Why she said no to a GLP-1 prescription for two years and what finally changed her mind; The real story behind concerns about muscle loss on these medications; What happens when the “food noise" goes silent and a new set of challenges takes its place.   Mentioned in this episode:  Dr. Christle's website If you like this podcast, please share it on your social channels. You can also subscribe to the series and check out all of our episodes at www.osmosis.org/podcast

Brad Power spent years advising major corporations on systems design, process engineering, and decision making before lymphoma shoved him into the patient side of American healthcare. Instead of accepting the experience at face value, he started reverse engineering the machinery around cancer itself. Brad is the founder of Cancer Patient Lab and Open Cancer AI, two projects built around a blunt reality most patients discover too late: the healthcare system rewards people who know how to navigate it. Everyone else risks getting steamrolled by information asymmetry, insurance barriers, administrative friction, and institutional incentives designed around efficiency instead of human survival.The conversation starts with Harvard Business Review and Tumblr blogs before moving directly into the darker architecture underneath modern cancer care. Power explains how hospitals optimize for throughput, how insurance companies reward operational consistency over personalized medicine, and why many patients quietly end up needing a crash course in oncology, reimbursement policy, and behavioral psychology while fighting for their lives.The discussion digs into CAR-T therapy, functional testing, AI assisted decision support, and the growing collision between personalized medicine and standardized care pathways. Power argues that engaged patients often get better outcomes because they learn how to push for off guideline treatments, contest denials, and ask smarter questions. The counterpoint lands hard: patients should never have needed to become experts in the first place.The episode also explores the cultural consequences of AI entering cancer care. OpenAI advertising, data privacy, trust erosion, pharmaceutical influence, and “agentic AI” all collide inside a healthcare economy already drowning in distrust. Power sees artificial intelligence as a force multiplier for patient literacy and access. The larger system still decides who gets approved, who gets delayed, and who gets left behind.By the end, the conversation lands exactly where modern healthcare keeps forcing people to land: survival increasingly depends on learning how the machine works before the machine works on you.RELATED LINKSBrad PowerCancer Patient LabOpen Cancer AIHarvard Business ReviewResearch to the PeopleCAR T Cell 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.

Lisa Gurry, Chief Business Officer at GeneDx,  is transforming the diagnosis of rare diseases in children by providing comprehensive genetic testing. Using exome and genome sequencing, they deliver rapid, accurate results that enable early intervention and access to therapies. Through partnerships and a network of genetic counselors, GeneDx connects patients with specialists and clinical trials to ensure equal access for children and has established a comprehensive database that supports clinical care and drug development and helps identify previously undiagnosed or misdiagnosed conditions. Lisa explains, "The average diagnostic odyssey, or the time it takes to get a diagnosis, is tragically far too long for most families. It can take five years or more to get that diagnosis. And it's typically because the system tends to wait and see to provide the genetic tests that could give a diagnosis very quickly. At GeneDX, we've focused on exome and genome testing, which enables us to have a very comprehensive view across variants of potential diagnoses. And so that's our recommendation: any family that is experiencing a developmental delay has concerns with epilepsy, autism, or any number of genetic potential conditions. The beautiful part about a genetic test is that it can give you the answer you need to know what action to take." "It's remarkable how much science and technology have evolved. So we did our first exome test in 2011, and since then we've sequenced over one million exomes and genomes. So, a tremendous amount of progress has been made in the number of children that we've diagnosed. That's possible because science and technology have advanced, the cost of the test has dramatically reduced, and our ability to deliver that at scale is something that we've been investing in for the last 25 years."  #GeneDx #RareDisease #Genomics #Pediatrics #PrecisionMedicine #GeneticTesting #Epilepsy #GeneTherapy #RealWorldData #Biopharma #ClinicalTrials #HealthcareInnovation genedx.com Listen to the podcast here

Lisa Gurry, Chief Business Officer at GeneDx,  is transforming the diagnosis of rare diseases in children by providing comprehensive genetic testing. Using exome and genome sequencing, they deliver rapid, accurate results that enable early intervention and access to therapies. Through partnerships and a network of genetic counselors, GeneDx connects patients with specialists and clinical trials to ensure equal access for children and has established a comprehensive database that supports clinical care and drug development and helps identify previously undiagnosed or misdiagnosed conditions. Lisa explains, "The average diagnostic odyssey, or the time it takes to get a diagnosis, is tragically far too long for most families. It can take five years or more to get that diagnosis. And it's typically because the system tends to wait and see to provide the genetic tests that could give a diagnosis very quickly. At GeneDX, we've focused on exome and genome testing, which enables us to have a very comprehensive view across variants of potential diagnoses. And so that's our recommendation: any family that is experiencing a developmental delay has concerns with epilepsy, autism, or any number of genetic potential conditions. The beautiful part about a genetic test is that it can give you the answer you need to know what action to take." "It's remarkable how much science and technology have evolved. So we did our first exome test in 2011, and since then we've sequenced over one million exomes and genomes. So, a tremendous amount of progress has been made in the number of children that we've diagnosed. That's possible because science and technology have advanced, the cost of the test has dramatically reduced, and our ability to deliver that at scale is something that we've been investing in for the last 25 years."  #GeneDx #RareDisease #Genomics #Pediatrics #PrecisionMedicine #GeneticTesting #Epilepsy #GeneTherapy #RealWorldData #Biopharma #ClinicalTrials #HealthcareInnovation genedx.com Download the transcript here

By the time the paper hit version 71, Dr. Nirosha Murugan had already done the hard part. The data were real. The experiment had worked. A team of researchers had used a wearable bioreactor to trigger limb regeneration in frogs, a result with obvious implications for regenerative medicine. But the science still wasn't getting over the line. The problem wasn't the work. It was the translation.On this episode of Standard Deviation, host Oliver Bogler talks with Dr. Nirosha Murugan, a biophysicist and Tier II Canada Research Chair in Tissue Biophysics at Wilfrid Laurier University, about what happens when a scientist working at the edges of quantum biology, bioelectricity, and tissue regeneration runs headfirst into the unwritten rules of academic publishing. Murugan's research asks biologists to think beyond molecules and chemistry alone, and to consider the physical signals, electromagnetic fields, and invisible forces that shape development and healing. It is ambitious science. It is also exactly the kind of work that can make gatekeepers nervous.Bogler follows Murugan through the less glamorous part of discovery: the hidden curriculum of getting a paper published, securing scientific credibility, and learning that data do not simply “speak for themselves.” Murugan describes how jargon buried the pitch of her own work, how a lack of editorial support left her at a disadvantage, and how the JEDI program at the Life Science Editors Foundation paired her with a former journal editor who taught her how to structure a manuscript, write a cover letter, and survive peer review.The result was publication in Science Advances, but the larger story is about power. Who gets taught the rules of biomedical research. Who has access to grant writers, editors, and institutional polish. Who is left to brute-force their way through the maze. And how one scientist, having finally found the map, now makes sure her own trainees do not have to learn it the hard way.RELATED LINKSDr. Nirosha Murugan⁠Wilfrid Laurier University⁠Life Science Editors Foundation⁠JEDI Program⁠Science Advances paper on limb regeneration⁠FEEDBACKLike 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.

Millions of Americans were saddened and outraged by the Sandy Hook Elementary shooting in 2012 that took the lives of twenty children and six adults, and were left feeling helpless about the epidemic of gun violence in the U.S. that, sadly, continues to this day. But for our guest today, Shannon Watts, her feelings of devastation about the shooting turned to rage and fueled her unlikely rise to leading Moms Demand Action, which she grew into one of the largest grassroots organizations in the country, mobilizing millions of volunteers to push for stronger gun safety laws. “I wanted to stand shoulder to shoulder with a badass army of women because that's who gets things done in this country,” she says.    In this inspiring conversation with Raise the Line host Michael Carrese, Watts pulls back the curtain on how the group achieved its successes and the philosophy of "losing forward" that kept volunteers showing up year after year. In her recent book Fired Up, Watts describes how she is bringing insights from that experience to a new mission: helping women identify their values, abilities, and desires and acting on them without waiting until everything is perfect. Tune-in to learn about:  The "false fires" women mistake for passion; Why losing estrogen and testosterone in midlife might actually make women braver, not less so; The one exercise she does with every woman she coaches.  Mentioned in this episode: Fired Up book Moms Demand Action 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

For many families navigating chronic illness, it's hard to imagine what the future might look like for their child. This week on Inside the Children's Hospital, Katie Taylor sits down with Vincent Rosche, a patient advocate, fitness enthusiast, and survivor who has spent most of his life navigating complex medical challenges. Diagnosed with chronic intestinal pseudo-obstruction (CIPO) at just 9 months old, Vincent grew up with feeding tubes, central lines, frequent hospitalizations, and even battled thyroid cancer as a teenager. Today, Vincent works as the Community Engagement Coordinator for the Oley Foundation, connecting patients and families receiving home nutrition support with resources, education, and peer support. In this inspiring conversation, Vincent shares: • His earliest memories of growing up in the hospital • The profound impact Child Life Specialists and therapy dogs had on his experience • What his parents did that made the biggest difference during difficult times • Navigating school while managing complex medical needs • Learning to advocate for himself as a patient • How fitness transformed his health and confidence • Becoming a bodybuilding competitor despite lifelong health challenges • The importance of community, connection, and peer support • Resources available through the Oley Foundation for pediatric and adult patients ⏰ Timestamps 00:00 Introduction 00:50 Vincent's diagnosis and medical journey 02:52 Life today: advocacy, fitness, and dogs 04:02 Therapy dogs and Child Life memories 05:43 Earliest hospital experiences 07:14 The role of family and support 10:21 Advice for parents navigating chronic illness 17:34 School and growing up medically complex 23:24 Learning self-advocacy 28:20 Discovering fitness 32:59 Becoming a personal trainer 36:15 Competitive bodybuilding 37:59 Joining the Oley Foundation 40:23 Peer support and patient advocacy 45:12 Resources for families 49:49 How to connect with Vincent 51:05 Lessons learned and proudest accomplishments 58:47 A message of hope for parents 01:00:00 Closing Vincent offers a powerful message to parents who are in the thick of it right now: you're doing better than you think, and your child remembers your love more than your mistakes. Whether you're a parent, caregiver, healthcare professional, or someone living with a chronic condition, this conversation is filled with hope, perspective, and practical wisdom. Learn more about the Oley Foundation at https://oley.org Connect with Vincent: Instagram: @chronically_fit_life Facebook: Vincent Rosche Connect with us! Instagram: @childlifeoncall + @insidethechildrenshospital Subscribe: Never miss an episode on Apple Podcasts or Spotify. Visit insidethechildrenshospital.com to search stories and episodes easily Leave a Review: It helps other families find us and access our resources   Medical information shared in this episode is not a substitute for professional medical advice. Please consult your care team for guidance specific to your child and family. Keywords:  Chronic Illness, Rare Disease, Patient Advocacy, Medical Parenting, Pediatric Healthcare, Feeding Tube, TPN, Chronic Intestinal Pseudo-Obstruction, Child Life Specialist, Resilience    

In this episode of Let's Combinate: Drugs + Devices, Subhi Saadeh talks with Julia Anthony, founder and chief strategy officer of Solution Medical, about adrenal crisis, emergency hydrocortisone, and what it takes to build a drug-device combination product from a patient need.Julia was born with salt-wasting congenital adrenal hyperplasia, a life-threatening form of adrenal insufficiency. Because her body cannot make cortisol, she takes cortisol replacement daily and may need an emergency hydrocortisone injection during a crisis.The problem?The current emergency injection can take upto 14 steps to prepare, mix, and administer.Julia explains why the liquid and powder need to stay separate for stability, why the current process is so difficult during an emergency, and how Solution Medical is developing a proprietary dual-chamber primary container to simplify reconstitution while maintaining shelf life without refrigeration.We also discuss how the company evolved from a device idea into a drug-led 505(b)(2) NDA program, the development of a four-step prefilled syringe and two-step auto-injector, human factors testing with both patients and injection-naive users, manufacturing challenges in aseptic processing, supplier trust, regulatory strategy, and the broader platform potential for other mix-before-inject drugs.Chapters00:00 Meet Julia Anthony01:04 Living Without Cortisol02:03 The 14-Step Injection05:01 Building a Combination Product07:54 From Device Concept to Pharma Company10:06 Needles, Steps, and Testing13:25 Patient Insights and Human Factors16:58 Real-World Access Challenges21:50 Why Not a Liquid Formulation?24:15 Regulatory Pathway: 505(b)(2)25:13 Manufacturing and Partner Trust27:32 Rare Disease and Supplier Power31:53 Platform Vision Beyond Adrenal Insufficiency38:05 Reconstitution Is the Hard Part41:12 COVID Tailwinds and Timeline43:38 Where to Find Solution Medical44:42 Final Thoughts on CortisolAbout SubhiSubhi Saadeh is a consultant, trainer, and auditor focused on quality, regulatory, manufacturing, and supplier challenges for drugs, devices, and combination products.Through Let's Combinate, Subhi helps companies navigate the messy intersection of pharmaceutical and medical device requirements through consulting, training, audits, and practical education.He also hosts Let's Combinate: Drugs + Devices, where he speaks with leaders building, regulating, manufacturing, and improving combination products.

Dr. Jess Peatross trained in conventional medicine and worked as a hospitalist before she started questioning why so many chronically ill patients kept getting worse inside the healthcare system she trusted. Her perspective carries weight because she spent years following every protocol exactly as taught before walking away from hospital medicine entirely.Raised in Huntington, West Virginia during the opioid crisis, she entered medicine believing the system existed to heal people. Instead, she found hospitals driven by billing codes, liability management, and pharmaceutical dependence while patients with chronic illness, autoimmune disease, mold exposure, and chronic pain cycled endlessly through appointments and prescriptions.Dr. Peatross explains what pushed her toward functional medicine, cannabis therapy, and prevention focused care after watching patients improve only after leaving conventional treatment pipelines behind. The conversation tackles physician burnout, chronic illness stigma, healthcare incentives, and the growing collapse of trust between patients and institutions.The discussion also moves into supplements, environmental toxins, ultra processed food, and the uncomfortable economics behind keeping people permanently sick but continuously billable. Dr. Peatross describes the professional backlash that comes with challenging medical orthodoxy while Matthew connects her experience to the broader erosion of public trust across American healthcare.Together they unpack what happens when patients stop believing the system can help them and start searching elsewhere for answers.RELATED LINKSDr. Jess PeatrossInstagramMarshall UniversityBrave New WeedFEEDBACKLike 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.

In one of the most heartfelt conversations ever on The Joseph Graham Show, Joseph sits down with Brett Rezewski to talk about the part of his life most people never see online — the battle his wife faced with a rare disease that led to a stroke, and the way Brett stepped into the role of full‑time caretaker, business owner, and father, all while holding onto his faith in Christ.Brett opens up about the fear, the exhaustion, the prayers, and the moments where he didn't know how he would make it through. He shares how God met him in the darkest seasons, how his marriage grew stronger through suffering, and how being a caretaker reshaped his understanding of love, leadership, and calling.This episode is raw, emotional, and deeply inspiring. It's a story of a man choosing faith over fear, commitment over comfort, and love over circumstance.His wife's rare disease and the day everything changedThe stroke that reshaped their marriage and daily lifeWhat it means to be a husband when your spouse can't fight for herselfBalancing caregiving, fatherhood, and running a businessHow Christ sustained him through exhaustion, fear, and uncertaintyThe spiritual lessons learned in hospital rooms and quiet moments with GodWhy suffering can deepen faith instead of destroying itHow Brett and his wife stay united, hopeful, and anchored in ScriptureThe calling men have to lead with love, sacrifice, and spiritual strengthReal leadership starts at home — especially when life falls apart.God often does His deepest work in seasons of suffering.Marriage is a covenant, not a convenience.Being a caretaker is one of the highest forms of love.You can carry heavy responsibility when Christ carries you.Faith doesn't remove the storm — it gives you strength to walk through it.Instagram: @brett_rezewskiCoaching & Programs: (Add link if you want it included)Joseph Graham is a sales leader, podcast host, and coach helping business owners build selling systems that scale. Through The Joseph Graham Show, he spotlights leaders, thinkers, and innovators making an impact in business, mindset, faith, and personal growth.Connect with Joseph:Website: JoeGrahamReal.comInstagram: @joegrahamrealYouTube: The Joseph Graham ShowLinkedIn: Joseph GrahamKey Topics CoveredKey TakeawaysConnect with Brett RezewskiAbout Joseph Grahamhttps://a.co/d/0j9xgC8ohttps://www.instagram.com/brett_rezewski?igsh=cGN5ODhjbXZzZ3Mx&utm_source=qr

In the United States, nearly 70% of people say they want to die at home, yet the majority still die in medical settings, often after receiving care that may not match their goals and values. Closing that gap between preference and reality is at the heart of the work being done by End Well, a nonprofit dedicated to transforming how we think about, plan for, and experience the end of life. "The gap isn't about people wanting the wrong things. It's that our culture and our incentives aren't aligned with helping those wishes actually happen at the end of life,” says Dr. Shoshana Ungerleider, End Well's founder and president.  As Dr. Ungerleider explains to Raise the Line host Michael Carrese, End Well sponsors an annual symposium and year-round activities to bring together clinicians, patients, caregivers, and innovators to improve that alignment. Key steps include earlier integration of palliative care, allowing providers time for listening and goal setting with patients, and normalizing conversations about what matters most to people. This compelling conversation on reframing end of life care also covers how to bring wonder, joy, and hope into end-of-life conversations, and End Well's work to change how death is portrayed in the media. Mentioned in this episode:End Well 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

This episode, recorded at the ASGCT 2026 Annual Meeting in Boston, focuses on Molecular Therapy Advances’ upcoming special issue, Beyond prevalance: How rare diseases are reshaping therapeutic innovation. Listen as Editor-in-Chief of Molecular Therapy Advances, Dr. Mohamed Abou-el-Enein, discusses the evolution of therapeutic development for rare diseases with guest editors Drs. Jennifer Adair, Claire Booth, Terence Flotte, and Donald Kohn. Music: 'Electric Dreams' by Scott Buckley - released under CC-BY 4.0. www.scottbuckley.com.auShow your support for ASGCT!: https://asgct.org/membership/donateSee omnystudio.com/listener for privacy information.

Families seeking a diagnosis for a rare disease often face a protracted diagnostic odyssey that can include ER visits, specialist referrals, and dead ends, even at world-class medical centers. Parents bounce from doctor to doctor while payers absorb mounting costs, and the pivotal moment of putting a name to a disease—which can reduce unnecessary care and emotional distress—arrives late, if at all. Sunstone Health is seeking to industrialize the path to answers by using AI to scan claims data for patterns that flag likely genetic disease, recruiting high-risk families, and fast-tracking whole-genome sequencing through a top clinical lab. Sunstone Health founder Joshua Resnikoff discusses how his son's rare disease diagnostic odyssey gave rise to the company, how Sunstone is working to transform the path to a diagnosis, and its business model of relying on the savings it delivers to self-funded employers.

Farla Efros is a senior retail executive and former CEO who built and sold companies before facing her own breast cancer diagnosis. She brings that same operational mindset into a healthcare system that expects patients to manage complexity while they are at their most vulnerable.She was on a client call in Spain when the diagnosis came through. A clear mammogram had missed it. An MRI caught it. Within hours, she was ordering binders, building a plan, and structuring her treatment like a turnaround strategy. Every appointment became a meeting. Every doctor faced an agenda with dozens of questions. She paid out of pocket for PET scans that were denied and hired a third party firm to validate her treatment path when her own doctors resisted outside input. The conversation tracks what happens when a high-functioning executive enters a system built on delay, denial, and fragmentation. Efros describes negotiating for tests, managing physician relationships, and assembling an “executive board” of advisors across conventional and alternative care. She calls the experience “the worst client I ever had,” exposing how administrative burden shifts onto patients and families.The tension sits between what worked for her and what is inaccessible to most. Her approach requires confidence, time, and fluency in navigating power. The system rewards that behavior while quietly failing patients who cannot replicate it. Insurance coverage still left her paying out of pocket. Doctors pushed standard protocols over precision medicine. Survivorship offered little support once treatment ended.This episode examines how cancer care operates as a series of incentives rather than a coordinated system, and why patients are forced to become operators just to get through it.RELATED LINKSFarla EfrosFarla Efros on LinkedInF*ck CancerF*ck Cancer on AmazonAccentureCTOAMPULL QUOTES“I treated cancer like the worst client I ever had.”“They wouldn't approve the test, so I paid for it myself.”“Every appointment was a negotiation.”FEEDBACKLike 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.

In this episode of PeDRA Pearls, we explore the discovery of Bachmann-Bupp syndrome and the remarkable collaboration that transformed a single patient observation into a growing body of research and a promising treatment pathway. Host Jenn Dawson speaks with Caleb Bupp, MD, Andre Bachmann, PhD, and Liz VanSickle, PhD, about the genetics, skin and hair findings, and translational science behind this ultra-rare disorder, as well as the critical role pediatric dermatologists can play in recognizing patients, advancing research, and building connections for families navigating rare disease.