بهترین پادکست های Rare Disease (2025)

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Episode 2: Driven by Diagnosis 18:57

2d ago18:57

18:57

"What is stopping Owen from having a treatment is funding—not science." —Lindsay Topping Scheutz How do personal stories fuel scientific progress in the world of rare diseases? In this episode of PNRI Science: Rare Disease, Real Progress, we hear from three powerful advocates who have turned personal experience into lasting impact. Daniel Barvin sh…

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Why ASO Technology? 29:22

14d ago29:22

29:22

What makes antisense oligonucleotides (ASOs) so special? Let’s first understand what an oligonucleotide is. An oligonucleotide is a short strand of synthetic DNA or RNA (a nucleic-acid chain), usually consisting of up to approximately 20 nucleotides long—designed to bind with specific sequences in the body. At n-Lorem, our ASO technology is built o…

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Navigating the Patient's Journey featuring Brenda Snow 57:59

22d ago57:59

57:59

Patient Worthy is humbled to speak to Brenda Snow, CEO and Founder of Snow Companies and now the bestselling author of 'Diagnosed: The Essential Guide to Navigating the Patient's Journey'. We discuss Brenda's own journey with Multiple Sclerosis and how she has turned it into a career and guidebook for others facing chronic diagnoses. You can find B…

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Episode 1: Two Institutions, One Powerful Event 14:15

9d ago14:15

14:15

"Rare disease research is shaping the way almost all biomedical research will be carried forward in the future." — Dr. Jack Faris What does it take to make real progress in the fight against rare diseases? In this episode of PNRI: Rare Disease, Real Progress, PNRI CEO Jack Faris and his daughter and co-host, Anna Faris, reflect on the energy and di…

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Introducing Season 2: Voices From Rare Disease Day 2025 2:12

10d ago2:12

2:12

In Season 2, we’re bringing you something special—conversations recorded live at PNRI’s 2025 Rare Disease Day symposium. It was a day full of energy, insight, and shared purpose, as scientists, clinicians, advocates, and industry leaders came together to accelerate rare disease research and treatment. Hosted by Jack Faris, CEO of the Pacific Northw…

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Episode 137 | Dr. Brandon Moss of the Cleveland Clinic talks neuro sarcoidosis 1:01:20

16d ago1:01:20

1:01:20

In this Episode of the FSR Sarc Fighter podcast, Dr. Brandon Moss, Director of the Neuro Sarcoidosis Clinic at the Cleveland Clinic, talks about the unique challenges of neuro sarcoidosis. Dr. Moss also happens to be my doctor. I've told him he can use my situation as a case study for the sake of this discussion. So you may hear a lot about my spin…

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Connor Dalby's Story: n-Lorem Patient #001 with Kelley Dalby and Dr. Olivia Kim-McManus 38:55

28d ago38:55

38:55

Connor Dalby was born with an SCN2A ion channel mutation causing severe epilepsy and eventually leading to hospice care at an early age. It was a chance hallway conversation between Connor’s mom and Dr. Stan Crooke at a conference that sparked the idea for what would become n-Lorem. In a full-circle moment, Connor went on to become the very first p…

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Episode 136 | A big Announcement for John and Sarah Bishop joins from halfway around the world to share her Sarcoidosis story. 1:18:23

30d ago1:18:23

1:18:23

Sarah Bishop is busier than most people. She is an ambitious runner, she is a police detective, and she loves the outdoors in New Zealand. But she started having trouble doing even normal things. She would get so tired and out of breath that her basic activity was nerly down to nothing. But nobody could figure out what was wrong with her. Sound fam…

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Bonus Episode | Leaning in on equity in Clinical Trials 58:43

1M ago58:43

58:43

Bonus Episode of the FSR Sarc Fighter podcast. In this bonus episode of the FSR Sarc Fighter podcast -- a reminder of the fantastic progress that has been made when it comes to making it possible for people to participate in clinical trials. Thanks to the tireless work of the team at the Foundation for Sarcoidosis Research and the support of Mallin…

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Our Mission is Personal with Sarah Glass 41:36

1M ago41:36

41:36

For n-Lorem's Chief Operating Officer, Sarah Glass, the mission of n-Lorem is deeply personal. Her son Ethan was diagnosed with a nano-rare mutation, a journey that has shaped her commitment to the cause. A geneticist by training, Sarah joined n-Lorem to help lead and guide the organization in its efforts to offer hope and potential help through tr…

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Episode 135 | April is Sarcoidosis Awareness Month! 54:31

1M ago54:31

54:31

April is Sarcoidosis Awareness Month, and it's time to let people know that we are all "Facing Sarcoidosis Together," which is the theme for 2025. In this edition of the FSR Sarc Fighter podcast, I talk with Cathi Davis, Director of Communication and Marketing for FSR, along with fellow sarc fighters and volunteers Theresa Govan and Susan D'Agostin…

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Intro to FSGS - Dr. Howard Trachtman 34:19

2M ago34:19

34:19

Title: Intro to FSGS Episode Description: In this episode of the Rare Kidney Disease Show, Howard Trachtman, Adjunct Professor of Pediatrics at the University of Michigan, and Chris Gisler, medical director at Travere Therapeutics, explore the complexities of FSGS, covering its pathophysiology, classifications, and clinical presentation. They discu…

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How Cells Phone a Friend: Local Communication 21:11

2M ago21:11

21:11

Our bodies are like bustling cities of cells, always chatting and working together. They don’t just send long-distance messages to organs—they also gossip locally, getting nearby cells to spring into action. Juxtacrine communication is like a handshake between cells—they have to be up close and personal to pass the message along! Unlike long-distan…

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Episode 134 | Dr. Ravi Karra of Duke University discusses his research on Cardiac Sarcoidosis and its causes. 53:03

2M ago53:03

53:03

The Foundation for Sarcoidosis Research recently awarded two grants to further our knowledge of cardiac sarcoidosis. One of them went to Dr. Ravi Karra, MD, MHS, Associate Professor of Medicine and Pathology at Duke University. Dr. Karra is investigating what causes cardiac sarcoidosis, and the best way to treat it. He joins me on the Sarc Fighter …

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How Cells Phone a Friend: Long Distance Communication 36:12

2M ago36:12

36:12

How do cells communicate with each other? With trillions of cells in the human body, seamless collaboration is essential within this intricate cellular society. Cells work together to form organs, and when one organ needs another to perform a task, they send signals across distances—much like picking up the phone and calling someone. Organ Hotline …

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Episode 133 | FSR funds new research and an email from New Zealand 32:43

2M ago32:43

32:43

In this Episode of the FSR Sarc Fighter podcast, Spring has sprung in Virginia, and John is fueling his optimism for the season with news from the Sarcoidosis world, including a rare disease video series that spotlights sarcoidosis and the announcement of some major grants from FSR to Sarcoidosis researchers. Show Notes: Watch the video featuring K…

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Rosie’s Story: A Nano-rare Treatment Pioneer 49:30

3M ago49:30

49:30

Rosie was the first of three HNRNPH2 patients to receive treatment with an n-Lorem ASO, helping to pave the way for others. Her parents, Nicole and Bobby, share their daughter's journey and how they have adapted as a family to meet her unique needs. As a pediatrician, Nicole understands the complexities of medical care, yet she acknowledges that ev…

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Episode 132 | Dr. Arthur Yee on the history of sarcoidosis and a call out to rheumatologists everywhere 1:01:11

3M ago1:01:11

1:01:11

Dr. Arthur Yee of Hospital for Special Surgery in New York City, believes rheumatologists are uniquely qualified to treat Sarcoidosis -- yet many of them shy away from sarc patients. In this episode of the FSR Sarc Fighter Podcast, Dr. Yee explains why sarc patients can be scary to doctors. He also looks at the history of Sarcoidosis and the treatm…

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Sloane's Story: A Shared Medicine 53:31

3M ago53:31

53:31

Sloane was born with a KIF1A mutation and is a special case at n-Lorem—she was the first patient to receive a medicine originally designed for someone else. Her mother, Megan, and grandfather, Tom, join the Patient Empowerment Program to share her journey and provide an update on how she’s doing six months after treatment. On This Episode We Discus…

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Episode 131| A well-designed and successfully conducted clinical trial with very clear negative results is the second-best outcome in drug development 57:06

4M ago57:06

57:06

Despite high hopes and promise from the drug Namilumab, Kinevant Sciences is reporting that the drug was not effective in treating Sarcoidosis. A well executed clinical trail showed that the drug simply didn't make a difference for sarcoidosis patients. In this episode of the FSR Sarc Fighter Podcast, two of the leaders at Kinevant join me to talk …

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5-years of n-Lorem: What Have We Learned? 45:30

4M ago45:30

45:30

Five years of creating medicines, instilling hope, and overcoming steep challenges—all with the singular goal of improving the lives of nano-rare disease patients. Along the way, we’ve proven that WE CAN treat these patients safely and effectively, delivering significant benefit. But what else have we discovered throughout this journey? Thank you t…

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ASN Update - Sparsentan Redefining IgAN Treatment 19:07

4M ago19:07

19:07

In this episode of the Rare Kidney Disease Show, a panel of nephrology experts explore the latest data on sparsentan, as presented at ASN Kidney Week 2024. Dr. Hiddo Heerspink presents a post hoc analysis of the PROTECT trial comprised of patients who achieved complete proteinuria remission. Dr. Chee Kay Cheung shares interim data from the SPARTAN …

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Episode 130 | New Year, New Life. 32:25

4M ago32:25

32:25

It's early January and I'm starting a new job -- reflecting on both my early days and the days and years ahead -- while pondering what it all means with sarcoidosis lurking in the background. Show notes: Kerry Wong on The new Netflix show No Good Deed: https://sarcoidosisnews.com/columns/sarcoidosis-storyline-netflixs-no-good-deed-true-patients/ Ke…

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I Sing the Body Electric 33:27

4M ago33:27

33:27

Walt Whitman’s 1855 poem, I Sing the Body Electric, is a celebration of the human body and its intrinsic connection to the universe. During that era, scientists were just beginning to understand that humans are, indeed, electrical beings. Whitman’s deliberate use of the word "electric" in his tribute to the human body was quite remarkable, as the t…

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Episode 129 | Karen Coleman is a dancer who had to slow her feet thanks to sarcoidosis 1:01:41

4M ago1:01:41

1:01:41

Sarcoidosis snuck up on Karen Coleman. A dance instructor, she couldn't figure out why she wasn't keeping up in her jazzercize class. After plenty of time with doctors and more CAT Scans than she would like, she discovered she was suffering from pulmonary Sarcoidosis. Show notes: News Release on protection for clinical trial participants: https://w…

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Q&A - 2024 Nano-rare Patient Colloquium Recap 24:22

5M ago24:22

24:22

Join Stan Crooke, n-Lorem founder, CEO, and host of the Patient Empowerment Program Podcast, alongside Amy Williford, Sr. Director of Communications and Donor Relations, for a special episode. In this post-colloquium Q&A, Stan recaps the 2024 Nano-rare Patient Colloquium and the progress n-Lorem has made as the organization nears its 5-year anniver…

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Episode 128 | A year of major accomplishments - and how you can help the Foundation for Sarcoidosis Research 45:02

5M ago45:02

45:02

We are making progress against Sarcoidosis, whether it's new treatments or outreach to patients or even the FDA, the foundation for Sarcoidosis Research is making serious progress. In this episode of the FSR Sarc Fighter Podcast, Cathi Davis and Jennifer Bulandr join me to look back at all the advancements we have made in 2024 and they look ahead t…

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The Role of AI in Medicine feat. Joe Lennerz, BostonGene 38:33

5M ago38:33

38:33

On this episode of the podcast, we discuss the role of artificial intelligence (AI) in medicine – specifically in the areas of analysis and diagnosis. Our guest, Dr. Joe Lennerz, is the chief scientific officer at BostonGene, an American clinical technology company that studies and produces new diagnostic tools in the areas of oncology and immunolo…

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Best of the 2024 Nano-rare Patient Colloquium 58:13

5M ago58:13

58:13

This year’s Colloquium spanned two perfect autumn days in beautiful Cambridge, Massachusetts where hundreds of nano-rare community members from around the world gathered under a single roof to learn, connect, and support one another. We’re pleased to announce that the event welcomed over 750 attendees, both in-person and virtually. It’s each and ev…

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Episode 127 | Mariza Löb Talks about her life with Cardiac Sarcoidosis 58:12

5M ago58:12

58:12

Mariza Löb was minding her own business, cooking dinner for her family when suddenly something wasn't right. In this episode of the FSR Sarc Fighter podcast, Mariza talks about how paramedics took her to the hospital and her journey with sarcoidosis began. #sarcoidosis #sarcoidosis awareness #cardiacsarcoidosis @foundationforsarcoidosisresearch Sho…

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Episode 126 | When is Cardiac Sarcoisosis at its worst and FMLA clearance for clinical trials 37:14

6M ago37:14

37:14

In this episode of the FSR Sarc Fighter podcast I share a new study from Japan that compared people with systemic cardiac sarcoidosis -- those people who have cardiac sarc as well as other organ involvement -- with those who have only cardiac involvement. The research found that if you have it only in your heart it may actually be more serious. Als…

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Episode 125 | All about our session with the FDA as the Sarc community makes its case. 31:29

6M ago31:29

31:29

In Episode 125 of the FSR Sarc Fighter Podcast, a look into the great success of the Externally Led Patient Focused Drug Development Meeting with the FDA. John co-hosted the meeting with Mary McGowan, the CEO of the Foundation for Sarcoidosis Research as you - the sarcoidosis community joined in to share your stories with the FDA to let the policy …

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Spreading PAH Awareness featuring Steve Smith 25:38

6M ago25:38

25:38

In this episode of the podcast we speak to Steve Smith, a patient advocate who is living with Pulmonary Arterial Hypertension (PAH), a rare and progressive condition characterized by narrowing of the blood vessels in the heart and lungs. Steve is a college administrator and avid theater participant who uses his PAH story to connect with others, bel…

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Episode 124 | FSR CEO Mary McGowan on how we are taking the sarcoidosis message to the FDA 42:59

7M ago42:59

42:59

On October 28th the Sarcoidosis world -- led by the Foundation for Sarcoidosis Research will have perhaps its best chance ever to tell the FDA what's going on with us. On that day, FSR is leading an event called an Externally Led Patient Focused Drug Development discussion. On that day from 10 am to 3 pm Patients, caregivers, medical experts and ma…

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Susannah's Progress: Two Years of ASO Treatment with Dr. Jennifer Bain and Luke Rosen 40:38

7M ago40:38

40:38

Two years of treatment—two years of strength, courage, and blazing a trail for other nano-rare patients! 🎉 Susannah's story was the first shared on the Patient Empowerment Program podcast. Now, two years later, her father, Luke Rosen, and her physician, Dr. Jennifer Bain, detail Susannah’s remarkable progress since beginning regular treatments—high…

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Episode 6: Dr. Aimée Dudley: Patients + Researchers = Strength 45:56

7M ago45:56

45:56

“One thing that is surprising to people is that there's a lot of creativity in science. There are a million different ways to answer a question.” - Dr. Aimée Dudley In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI’s Senior Investigator and Interim Chief Scientific Officer, Dr. Aimée Dudley, about how her l…

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Episode 123 | Stephanie Mizell is helping you beat Sarcoidosis while she struggles with her own sarc symptoms 1:02:37

7M ago1:02:37

1:02:37

Stephanie Mizell has good days and bad days. And she doesn't know what it will be until she wakes up and breathes. Such is the life of a young mother with sarcoidosis. Shortly after her diagnosis, Stephanie learned that FSR needed a person with her marketing talents. She applied for the job -- and now she is helping all of us by spreading the word …

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All About Koolen de-Vries Syndrome, feat. Patient Advocate Ashley Point 26:49

7M ago26:49

26:49

In this episode of the podcast we speak to Ashley Point, a patient advocate advocate whose son Davis was diagnosed with Koolen de-Vries Syndrome (KdVS) in 2016. She also serves as the president for both the Koolen de-Vries Syndrome Foundation and My Kool Brother, two non-profits that help to support families living with KdVS through advocacy, resea…

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Sneak Peek of the 2024 Nano-rare Patient Colloquium 41:44

7M ago41:44

41:44

Take a glimpse behind the curtain as we offer you a sneak peek of the 2024 Nano-rare Patient Colloquium. We’re thrilled to welcome back longtime biotech journalist and current Features Editor of The Transmitter, Brady Huggett, to the podcast. In an interview with n-Lorem founder and CEO Stan Crooke, they preview the upcoming Colloquium, diving into…

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#4 Conquering the Science of Muscle Disease with Edgewise Therapeutics 21:15

8M ago21:15

21:15

In this episode of "Rare Insights," host Taren Grom speaks with Dr. Joanne Donovah, Chief Medical Officer at Edgewise Therapeutics, about groundbreaking advancements for severe, rare muscle disorders. Dr. Donovan shares why Edgewise’s approach to targeting the basic unit of muscle contraction and being able to preserve and protect muscle function c…

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Episode 5: Dr. Cláudia Carvalho: Science is a Social Experiment 38:42

8M ago38:42

38:42

“Rare diseases are leading an interesting revolution in medical science. They are leading the field to try new approaches that can help these families.” - Dr. Cláudia Carvalho In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI’s Assistant Investigator, Dr. Cláudia Carvalho, about her international collaborat…

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Episode 122 | Lindsay Lawrence was a surfer until sarcoidosis pulled her under 1:01:32

8M ago1:01:32

1:01:32

Lindsay Lawrence was the picture of health. Active, mother of two children, healthy eater. All the things. But something just wasn't right. It got worse and worse until her doctor told her that her lungs were being damaged by sarcoidosis. In the time since diagnosis, she has been searching for the medications that work, while sarcoidosis creeps int…

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The Building Blocks of What's Possible with David Butler, Ph.D. 29:50

8M ago29:50

29:50

Hongene Biotech is a producer of RNA building blocks – the first step for what’s possible in RNA drug-discovery and development. David Butler, Ph.D., Chief Technology Officer of Hongene, joins the Patient Empowerment Program to discuss why Hongene aims to help make RNA medicines accessible and affordable for patients everywhere, regardless of preva…

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Episode 4: Dr. Michael Metzger: Future of Healthcare from a Clam 42:57

8M ago42:57

42:57

“If there's a way for an animal to evolve to block cancer, I want to know what that is. I think it has the potential to be really useful for humans.” - Dr. Michael Metzger In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI’s Assistant Investigator, Dr. Michael Metzger, about contagious cancer in clams. This …

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Episode 121 | Wade Tomlinson needed a lung transplant 1:17:38

8M ago1:17:38

1:17:38

The combination of Sarcoidosis and Covid proved too much for Wade Tomlinson. His lungs were wracked with damage from sarcoidosis. So when he got covid it was the punch his body couldn't handle and he needed to take drastic action. Wade got on several waiting lists for a lung transplant and then waited for the call. In episode 121 of the FSr Sarc Fi…

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Knowledge is Power: Part 2 29:34

8M ago29:34

29:34

The concluding episode of the Knowledge is Power series. The knowledge we are gaining at n-Lorem has even more value than benefiting nano-rare patients and their families. These insights will enable scientists to discover new therapeutic targets for both common and rare diseases, fundamentally changing the way we approach health and disease. Survey…

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PKD and the Gift of Life, feat. Patient Advocate Valen Keefer 40:10

9M ago40:10

40:10

In this episode of the podcast we speak to Valen Keefer, a professional speaker and patient advocate who was diagnosed with polycystic kidney disease (PKD) at age 10. Valen has faced a number of challenges in her journey, including a double organ transplant, and now inspires other PKD and chronic illness patients by sharing her story. Connect with …

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Episode 3: Dr. Bill Hagopian and Michael Killian: Tracking Ghosts 48:22

9M ago48:22

48:22

“Studying viruses is like tracking ghosts. It's incredibly difficult work.” - Dr. Bill Hagopian In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews the TEDDY Study’s Principal Investigator Dr. Bill Hagopian and PNRI’s TEDDY Clinical Research Manager Michael Killian who have led the massive international study, The…

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Episode 120 | Dr. Kamal Bharucha is a researcher who found himself a heartbeat away from real trouble 1:09:19

9M ago1:09:19

1:09:19

Dr. Kamal Bharucha is a Pediatrician-Scientist, Clinical Development Leader and Biotech Startup Advisor in the rare disease space. And suddenly he found himself dealing with a rare disease - sarcoidosis. He says he was feeling fine and went for a routine check-up and discovered everything was far from fine. Dr. Bharucha describes his journey throug…

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#3 Transformative Cell and Exosome-Based Therapies with Capricor Therapeutics 20:01

9M ago20:01

20:01

In this episode of "Rare Insights," host Taren Grom sits down with Dr. Linda Marbán, Chief Executive Officer at Capricor Therapeutics, to discuss groundbreaking advancements in the treatment of Duchenne muscular dystrophy and other rare diseases through innovative cell and exosome-based therapies. Dr. Marbán shares her journey in the biotechnology …

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