Les meilleurs podcasts Rare Disease (2024)

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50 Years of Supporting the TSC Community, feat. TSC Alliance President and CEO Kari Rosbeck 33:03

7d ago33:03

33:03

In this episode of the podcast we sit down with Kari Rosbeck, the president and CEO of the TSC Alliance. That’s a nonprofit dedicated to supporting people living with tuberous sclerosis complex and also driving research into promising treatment, among many other things. The TSC Alliance is also celebrating its 50th anniversary this year! Connect wi…

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Best of the 2023 Nano-rare Patient Colloquium 36:51

9d ago36:51

36:51

We’re recapping the 2023 Nano-rare Patient Colloquium in this special “Best of” episode. For the Colloquium, we gathered the nano-rare community under one single roof for a full day of presentations and panels with experts, partners, supporters, and patients. So, we are bringing some of the top moments directly to your speakers. Discover the origin…

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Introducing Rare Insights 2:01

10d ago2:01

2:01

“Rare Insights” is a podcast series interviewing industry and organizational leaders about the development of future therapies for rare diseases. On “Rare Insights” we bridge the gap between those living with rare diseases and the biopharmaceutical industry. Know Rare amplifies the voices of individuals with rare conditions, providing invaluable pe…

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Episode 115 | Sarc Fighter Andrea Maione has both sarcoidosis and long COVID. It's no party. 56:23

17d ago56:23

56:23

In Episode 115 of the Sarc Fighter Podcast, Andrea Maione fights to keep things going as she deals with the aftermath of the pandemic while dealing with the increasing onset of Sarcoidosis symptoms. Show Notes Participate in the aTyr Clinical Trial: https://bit.ly/3EUOxNq More on the Efzofitimod study: https://sarcoidosisnews.com/news/benefits-seen…

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Helping Rare Parents Help Themselves, feat. Ronda Thorington, LPC 34:52

21d ago34:52

34:52

In this episode of the podcast we sit down with Ronda Thorington, the mother of child living with mixed connective tissue disease. Ronda is also a licensed professional counselor who specializes in empowering parents of children who are living with a rare or chronic diagnosis. Connect with Ronda: Website - Facebook - Instagram Editor's Note: Chroni…

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The Hurdles of Insuring Patients with Nano-rare Mutations with Alan Lotvin, M.D. 50:51

23d ago50:51

50:51

What's preventing insurers from covering the specialized care of patients with nano-rare mutations, thereby expanding access to available treatment options? Is it the population size, cost, or perceived risk? Given that the initial discovery of nano-rare mutations is relatively recent, paving the way for this population requires a nuanced approach …

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Episode 114 | Influencer Jonathan Carlin uses YouTube and other social media for an FSR Fundraiser 52:35

1M ago52:35

52:35

In Episode 114 of the FSR Sarc Fighter Podcast, a member of the Super Carlin Brothers shares how he is using his significant social media presence to raise money for the Foundation for Sarcoidosis Research. Yes, that's Carlin -- the same name as mine. In this case it's my oldest son Jonathan -- whose YouTube channel has more than 2-million subscrib…

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IPF and the Importance of Clinical Trials, feat. Patient Advocate Murray Walz 18:08

1M ago18:08

18:08

In this episode of the podcast we sit down with Murray Walz, a patient advocate who was diagnosed with the progressive lung diseases idiopathic pulmonary fibrosis (IPF) in 2019. Murray discusses the importance of support, clinical trials and why the family factor is crucial for IPF patients. Connect with the Canadian Pulmonary Fibrosis Foundation: …

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Anna's Story of Hope and Help: FUS-ALS with Sonja Kämpfer and Dr. Neil Shneider 43:06

1M ago43:06

43:06

Stan Crooke speaks with Sonja Kampfer and Dr. Neil Shneider, associate professor of motor neuron disorders at Columbia Medical School, about Sonja’s daughter, Anna. Anna was diagnosed with an aggressive, fatal form of ALS at the age of 16. ALS is rare in teenagers, and this form of ALS is the worst of the worst. Sonja tells Anna’s story initial sym…

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Episode 113 | Kinevant Sciences makes progress with its drug Namilumab 1:03:17

2M ago1:03:17

1:03:17

In Episode 113 of the FSR Sarc Fighter podcast, John is joined by Kinevant Sciences CEO Bill Gerhart and the Senior Director of Patient Advocacy Rayne Rodgers. The team at Kinevant is excited to share the news of the progress they are making with their drug, Namilumab as a potential new therapy for sarcoidosis patients. SHOW NOTES Kinevant Sciences…

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Mostyn's Story: Mother's Day Special with Zoe Hummel 50:06

2M ago50:06

50:06

Motherhood is a journey filled with challenges, but every step is worth it for the love and joy it brings. Zoe Hummel joins the show in this special Mother’s Day episode to discuss her son Mostyn’s emotional story to diagnosis, and the unique challenges and triumphs of being a nano-rare mom. Order your Mother's Day card by May 6, 2024! All proceed …

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The MS Poltergeist, feat. Patient Advocate Jennifer Angus 43:48

2M ago43:48

43:48

In this episode of the podcast we talk with Jennifer Angus, a patient advocate and para dressage competitor who was diagnosed with multiple sclerosis in 2014. Jennifer has long been involved with athletics having a history as a skiing instructor and is a big advocate of horseback riding as a way to heal the body and mind. Connect with Jennifer Rega…

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Unmet Needs in IgAN: Burden of Disease & Long-Term Impact on Patients ft. Dr. Jonathan Barratt : 2 15:44

2M ago15:44

15:44

Overview: In this episode of the Rare Kidney Disease Show, Professor Jonathan Barratt discusses the need to take a long-term approach when managing IgA nephropathy patients. He presents data from the UK National Registry of Rare Kidney Diseases (RaDaR). During this recording you will hear Professor Barratt discussing the continued risk of progressi…

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Episode 112 | aTyr is getting closer to a new drug to fight sarcoidosis. 52:21

2M ago52:21

52:21

Joining me today on the FSr Sarc Fighter Podcast is Sanjay Shukla, CEO of aTyr Pharma. Sanjay returns to the podcast with a promising update on Efzofitimod, the most promising candidate to become the first drug developed specifically to fight sarcoidosis. Sanjay joins the podcast from Brazil, just one of the countries around the world, where the dr…

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Physicians and Institutions Transform the Lives of Nano-rare Patients with Olivia Kim-McManus, M.D. 48:53

2M ago48:53

48:53

Research physicians and their associated institutions are monumental to the mission of the n-Lorem Foundation and are truly transformational to the lives of the nano-rare patients they treat. Olivia Kim-McManus, M.D., was one of four physician panelists at our first Colloquium who participated in "A Physician's Perspective on n-Lorem and Nano-rare"…

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The Bespoke Gene Therapy Consortium's New Regulatory Playbook, feat. The Foundation for the National Institutes of Health and Taylor's Tale 36:30

2M ago36:30

36:30

In this episode of the podcast we talk with Drs. Julie Gerberding and Courtney Silverthorn from the Foundation for the National Institutes of Health (FNIH). They're bringing us updates on the Bespoke Gene Therapy Consortium's new regulatory playbook that is designed to help get certain types of genetic therapies for rare diseases approved and avail…

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Episode 111 | Mathew Hall hits the wall with sarcoidosis. And it's Sarcoidosis Awareness Month! 1:03:20

2M ago1:03:20

1:03:20

Episode 111 is a special episode of the FSR Sarc Fighter podcast. It's sarcoidosis awareness month -- and the folks who are fighting for us at FSR want to get the word out. So Angela O'Malley and Cathi Davis join me for the show to talk about how they are working behind the scenes to get people to "Say Sarcoidosis." But also on the show is fellow s…

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Advanced Genetics Part 2 25:52

3M ago25:52

25:52

Genetics can be intricate, no doubt. With millions of mutations present in every human, one might wonder why not everyone is impacted by pathogenic diseases. The Patient Empowerment Program aims to assist you in grasping the fundamental concepts of various mutations and how they function, paving the way for you to enhance your understanding of gene…

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Episode 110 | Walgreens is helping to fight Sarcoidosis 34:40

3M ago34:40

34:40

In this Episode of the Sarc Fighter podcast, we learn how Walgreens is making Sarcoidosis a priority for its customers. Not only is Walgreens doing a fundraiser for the Foundation for Sarcoidosis Research -- the chain is talking about the disease and spreading the word that sarcoidosis is out there, that patients need help, and that the disease nee…

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Hemophilia and Axel's Story, feat. Patient Advocate Kristina Robinson 27:37

3M ago27:37

27:37

In this episode of the podcast we talk with Kristina Robinson, a patient advocate and mother whose son, Axel, was diagnosed with hemophilia A when he was 10 months old. That’s a rare bleeding disorder, sometimes called “classic hemophilia,” that is characterized by excessive bleeding from cuts, unexplained bruising, joint swelling and more. Since h…

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Advanced Genetics Part 1 30:13

3M ago30:13

30:13

Each time one of the cells in your body divides to form a new cell, 3 BILLION genetic letters must be accurately duplicated. That’s a big number and mistakes DO happen in everyone. That’s right, if you’re reading this, you have a genetic mutation. On This Episode We Discuss: Your genetic alphabet – nucleotides How to think about DNA Replication Typ…

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Getting Ahead of IgAN: A New Treatment Paradigm for Disease Control ft. Dr. Brad Rovin : 1 16:15

3M ago16:15

16:15

Overview: In this episode of the Rare Kidney Disease Show, Dr. Rovin, Professor of Internal Medicine and Pathology at Ohio State University and chair of the RKD Scientific Network and Podcast, discusses advances in the management of IgAN through a patient case study. “IgAN progresses more often than we thought and progresses even in patients with l…

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The Road to Resilience and Self-Advocacy, feat. Patient Advocate Kecia J. 38:13

3M ago38:13

38:13

This episode features Kecia Johnson, an author, music industry veteran and motivational speaker who was diagnosed with HIV/AIDS in her early 20s, and also with a rare form of stage-3 colorectal cancer at age 35. Kecia has been an outspoken patient advocate who has appeared in OutSmart Magazine, Shoutout Atlanta, many different podcasts and also a W…

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Episode 109 | Sarcoidosis has not been kind to Laura Runge-Gordon 1:33:09

3M ago1:33:09

1:33:09

In this episode of the FSr Sarc Fighter Podcast, Dr. Laura Runge-Gordon talks about how neurosarcoidosis crept into her life after years of misdiagnosis. She has seen every kind of complication you can imagine -- not to mention doing it all with a stressful job during the pandemic. Meanwhile, Royce Robertson returns with another ambitious fundraise…

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Sharing Hope Through Storytelling & Connection with Shanna Tolbert 43:08

4M ago43:08

43:08

What's one way to spread hope? By sharing your experiences and connecting with others who truly understand the everyday challenges nano-rare patients face. Shanna Tolbert was one of five nano-rare patient caregivers who participated in the panel, The Perilous Journey to Diagnosis and Treatment for Nano-rare Disease Patients. Listen to Shanna’s take…

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Episode 105 | Perry Montoya has traveled the world, but now he's on a new journey. 1:12:01

4M ago1:12:01

1:12:01

Perry Montoya is a travel writer and tour guide. He's led people through the holy sites around Jerusalem and understands the history of the Bible. Now he's learning to understand and cope with Sarcoidosis. Listen in as he details the demands of his disease including multiple organ involvement. Despite this setback, he remains optimistic and is look…

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Episode 107 | Mark Simbrowsky has a racing heart. Even when he's sitting still. 1:04:22

4M ago1:04:22

1:04:22

Mark Simbrowsky is a big-time runner. He runs marathons. But Sarcoidosis said, "Not so fast." Mark suffers from cardiac sarcoidosis. He went from being the fittest person in the room to a hospital bed, and nobody knew why. Now after a long journey, he is returning to his old form -- but it hasn't been easy. This episode of the Sarc Fighter Podcast …

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Rare Cancer, Finances and Families, feat. Tony Laudadio of the Tony Foundation 48:39

4M ago48:39

48:39

In this episode of the podcast, we speak with Tony Laudadio, an oncology patient advocate who was diagnosed with renal cell carcinoma and oligodendroglioma, a type of rare brain cancer. In the years after his remission, Tony also started the Tony Foundation, a non-profit that helps to support families impacted by all types of cancers with crucial f…

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Our Mission is Personal with Sarah Glass 40:54

4M ago40:54

40:54

For n-Lorem’s Chief Operating Officer, Sarah Glass, the mission of n-Lorem is personal. Her son Ethan was diagnosed with a nano-rare mutation. A geneticist by training, she joined n-Lorem to oversee and direct the organization’s efforts to provide hope and potential help to those who need it most. It's more than just a job for her; she's powered by…

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Episode 106 | Rachelle DeMaria just wants to launch her life 1:02:16

4M ago1:02:16

1:02:16

Rachelle DeMaria lives in Colorado Springs, where the scenery is beautiful and as they say, life is worth living. Rachelle had just finished cosmetology school and was getting ready to open her business. Then one day something in her back didn't feel right. After exhaustive testing doctors diagnosed her with Sarcoidosis. Her diagnosis came at the h…

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The Unmet Need in Rare Disease, feat. Dr. Emil Kakkis of Ultragenyx 25:12

4M ago25:12

25:12

In this episode, we speak with Dr. Emil Kakkis, a physician and scientist who has spent more than 30 years helping to advance research, treatment and policy for rare disease patients. He is also the founder of both the EveryLife Foundation for Rare Diseases and Ultragenyx, a life sciences company dedicated to developing innovative treatments for ra…

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Q&A #2 with Patient Families 45:45

5M ago45:45

45:45

Charissa Lipman joins n-Lorem founder and CEO, and host of the Patient Empowerment Program Podcast, Dr. Stan Crooke, in this question-and-answer episode to discuss additional questions asked during the 2023 Nano-rare Patient Colloquium. Charissa attended the inaugural Colloquium in October 2023 and brings the perspective of a patient family member,…

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Everybody Lives with Dan Doctoroff 48:37

5M ago48:37

48:37

We're diving into the archives to resurface this top downloaded episode from last year. Dan Doctoroff joined Patient Empowerment Program in February 2023 to talk about his mission to support a world where everyone with ALS lives. Dan is the former NYC deputy mayor for economics and former CEO of both Bloomberg L.P. and Sidewalk Labs. In this episod…

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The Intersection of Motherhood and Chronic Illness, Feat. aHUS Patient Advocate Taylor Coffman 43:28

5M ago43:28

43:28

On this episode of the podcast, we discuss atypical hemolytic-uremic syndrome, also known as aHUS -- a rare disorder characterized by low levels of blood platelets and blood clotting in the small blood vessels of the body. We're joined by Taylor Coffman, whose diagnosis with aHUS during pregnancy inspired her to work as a patient advocate helping t…

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Episode 104 | John Martin thought it was time to get his affairs in order. 51:21

5M ago51:21

51:21

In episode 104 of the FSR Sarc Fighter Podcast, John Martin talks about how a routine trip to the doctor stopped him in his tracks. As is often the case is was a sarcoidosis related misdiagnosis. The good news is that he does not have cancer as his doctor suspected. On the other hand, sarcoidosis has dealt him a few setbacks and he must now live li…

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Best of the 2023 Nano-rare Patient Colloquium 39:02

5M ago39:02

39:02

For the return of the patient empowerment program podcast, we’re recapping the 2023 Nano-rare Patient Colloquium in this special “Best of” episode. For the Colloquium, we gathered the nano-rare community under one single roof for a full day of presentations and panels with experts, partners, supporters, and patients. So, we are bringing some of the…

1
Episode 103 | Closure. Why we need it and why sarcoidosis won’t give it to us. 59:29

6M ago59:29

59:29

Happy New Year from the Sarc Fighter Podcast. To start the year off, I have a look at a psychological concept called the Zeigarnic effect. Don't worry about the big name, it will all make sense when you listen. But it has to do with how your brain discards information it no longer needs to free up room to process other thoughts. By doing this, it h…

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Episode 102a | Sherron Fantauzzi Is fighting the good fight. 1:07:11

6M ago1:07:11

1:07:11

Sherron Fantauzzi knew something was wrong with her body. After months of aligning the clues, doctors discovered it was sarcoidosis. In Episode 102 of the FSR Sarc fighter podcast, Sherron brings her upbeat personality to the mic and talks about how she has balanced a job with the FAA, a local talk show, being a basketball referee, and sarcoidosis.…

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How to Think About "Risk" Part 2 35:28

6M ago35:28

35:28

Nano-rare diseases strip power from families and this often leads to hopelessness, anger, and dread. However, channeling these intense emotions to carefully navigate risk/benefit decisions is within one’s control. n-Lorem is different than standard drug development settings. Every risk/benefit decision that n-Lorem makes is in the context of the in…

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Episode 102 | Sherron Fantauzzi Is fighting the good fight. 1:07:46

6M ago1:07:46

1:07:46

Sherron Fantauzzi knew something was wrong with her body. After months of aligning the clues, doctors discovered it was sarcoidosis. In Episode 102 of the FSR Sarc fighter podcast, Sherron brings her upbeat personality to the mic and talks about how she has balanced a job with the FAA, a local talk show, being a basketball referee, and sarcoidosis.…

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How to Think About "Risk" Part 1 42:35

7M ago42:35

42:35

“How to Think About Risk” is arguably the most crucial topic ever discussed on the Patient Empowerment Program. Navigating decisions with substantial risk can be challenging, intricate, and even intimidating. The ability to detach from the intense emotions surrounding these choices is critical for making the best and most logical decisions. On This…

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Inheriting Huntington's Disease and Aspiring to Prolong Lives with Jeff Carroll 38:43

7M ago38:43

38:43

Jeff Carroll, Ph.D., inherited a gene that will eventually lead to symptoms of Huntington’s Disease. Alongside researching this debilitating disease as an Associate Professor of Neurology at the University of Washington, he’s a Scientific Advisor for n-Lorem and member of the Access to Treatment Committee (ATTC) that helps screen and assess submitt…

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Going All In On Support, feat. Patient Advocates Kathi and Dave Herzog 24:26

7M ago24:26

24:26

In observance of Alzheimer's Disease Awareness month, we sit down with patient advocate Kathi Herzog -- who was diagnosed with moderate Alzheimer's earlier this year. While not a rare condition, Alzheimer's research has informed the search for treatments in rare neurodegenerative conditions and Kathi's journey to diagosis will probably sound very f…

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Episode 101 | Andy Lacher has sarcoidosis in his lungs and his heart. Put he’s pushing on. 48:43

7M ago48:43

48:43

Andy Lacher knew something wasn't right when his heart rate wasn't right on a bike ride with his wife. It was the beginning of a year of doctor's visits until the ultimate diagnosis of sarcoidosis. Show Notes: Help FSR further its mission by becoming an Alliance Volunteer: www.stopsarcoidosis.org/gsca-leaders/ Become a community outreach leader: ht…

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Learn About NMOSD feat. Patient Advocates Dr. Maggie Kang and Nell Choi 25:27

7M ago25:27

25:27

In this episode of the podcast we discuss neuromyelitis optica spectrum disease (NMOSD), a rare autoimmune disease that effects central nervous system function and can result in symptoms such as pain, vision loss, limb weakness and numbness. Joining us are Dr. Maggie Kang and Nell Choi, mother and daughter patient advocates who talk about NMOSD and…

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Living a Longer, Healthier, and More Fun Life with Chip Wilson 1:00:16

8M ago1:00:16

1:00:16

Chip Wilson, the creator of Lululemon and SOLVE FSHD, stands as a pioneer, business innovator, philanthropist, and a person affected by a rare disease. His passion for fitness led him to build a successful career in designing athletic wear, but a diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD), a degenerative muscle condition, altered hi…

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Episode 100 | John Mockovciak is a caregiver and philospher when it comes to Sarcoidosis 1:10:45

8M ago1:10:45

1:10:45

John Mockovciak spends a lot of time helping his wife, Janet travel her sarcoidosis journey. And for a couple who hike and ski and seek the lifestyle they've always wanted, it can be a lot of work for both of them. Yet somehow they get down the mountains in the snow, and to the iconic places so many people want to visit. But it takes a certain mind…

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Building Equity in the Breast Cancer Community, feat. Jasmine Souers of the Missing Pink Breast Cancer Alliance 24:23

8M ago24:23

24:23

For Breast Cancer Awareness month, in this episode we're speaking with Jasmine Souers, the president and CEO of the Missing Pink Breast Cancer Alliance about some topics that aren't often covered in mainstream oncology. We discuss the individual genotypes, treatment factors and other considerations that make each case of breast cancer a "rare" expe…

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Episode 99 | How to meet NY Yankees great Bernie Williams, and FSR’s Manny Lozano on the power of the sarcoidosis community 1:10:46

8M ago1:10:46

1:10:46

In Episode 99 of the FSR Sarc Fighter podcast, we learn Yankees great Bernie Williams is using his remarkable talent as a musician to help people with Sarcoidosis. We also meet Manny Lozano who is in charge of building the sarcoidosis community through FSR. Manny spent more than 20 years in the Navy including some heavy duty tours. Now he brings th…

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Autopilot: The Autonomic Nervous System 22:04

8M ago22:04

22:04

The Autonomic Nervous System automatically controls essential processes whether you’re awake or asleep. It’s the employee of the month. It gets the job done at any time of the day without you even having to ask it. It is our body’s autopilot system, controlling functions we often take for granted, like heart rate, digestion, pupil dilation, and eve…

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