أفضل بودكاسات Rare Disease (2024)

1
Knowledge is Power: Part 2 29:34

15d ago29:34

29:34

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 – Patient Empowerment Program PodcastRegister for the 20…

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

19d 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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#3 Transformative Cell and Exosome-Based Therapies with Capricor Therapeutics 20:01

23d 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 …

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

9d 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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Episode 120 | Dr. Kamal Bharucha is a researcher who found himself a heartbeat away from real trouble 1:09:19

23d 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…

1
Knowledge is Power: Part 1 35:19

28d ago35:19

35:19

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 – Patient Empowerment Program PodcastRegister for the 20…

1
Rethinking IgAN: A Different Perspective from Community Nephrologists : 4 15:58

1M ago15:58

15:58

Luis Velez, MD is a board-certified community nephrologist in San Antonio, TX with expertise in hypertension and glomerular disorders. Jessica Coleman, MD is a board-certified community nephrologist practicing between Savanah, GA and Charleston, SC with expertise in hypertension and glomerular disorders. In this episode, Drs Velez and Coleman discu…

1
Episode 119 | Jessica Soules deals with Neurosarcoidosis 55:37

1M ago55:37

55:37

When it comes to sarcoidosis, one of the rarest forms is neurosarcoidosis or sarcoidosis in the nervous system. That's what Jessica Soules is dealing with. A long-time fitness instructor, sarc has taken the bounce out of her step. In addition, Jessica is trying to spread the message of another rare disease that claimed the life of a friend. In this…

1
Adopting a Rare Son with Paul Compton 33:39

1M ago33:39

33:39

Paul Compton and his wife Andrea chose to start a family through adoption. Unknown to anyone, one of their adopted boys, Taeson, was the inheritor of DRPLA, a progressive brain disorder caused by a mutation in the ATN1 gene. Determined to find a treatment and advocate for their son and others with the disease, the Comptons established CureDRPLA. In…

1
The Power of Resiliency, Feat. Multiple Myeloma Patient Advocate Keisha Hickson 50:02

2M ago50:02

50:02

In this episode of the podcast, we speak to professional speaker and community advocate Keisha Hickson, who was diagnosed with multiple myeloma in 2016. That’s a rare form of cancer that develops in a type of white blood cell called a plasma cell. We discuss navigating a rare cancer diagnosis, adjusting to a new normal and the importance of resilie…

1
#2 Using “Sea Squirts” to rewrite RNA with Ascidian Therapeutics 24:21

2M ago24:21

24:21

In this episode of "Rare Insights," host Taren Grom speaks with Dr. Jay Barth, Chief Medical Officer at Ascidian Therapeutics, about groundbreaking advancements in RNA editing technology and its potential in the rare disease space. Dr. Barth discusses Ascidian’s innovative approach, inspired by “sea squirts,” and shares insights on the development …

1
Ion Channel Mutations: The Complexities of Treatment 30:16

2M ago30:16

30:16

Mutations affecting ion channels are the most common cause of 'applications for treatment' submitted to n-Lorem. These channels regulate the passage of essential electrically charged ions, like sodium, potassium, calcium, and chloride, into cells. Alas, ion channels pose a significant challenge in the ASO discovery process, as there is little room …

1
Episode 118 | Mark Steier -- Who wrote the Sarc Fighter theme song has an unpdate, and his wife Caeleigh goes long for FSR 1:20:07

2M ago1:20:07

1:20:07

Zombie is the theme song for the FSR Sarc Fighter podcast. If you listen, you know. Shortly after I launched the podcast Mark Steier e-mailed me to say he had sarcoidosis and had written and recorded a song about it. I didn't expect much. But the song blew me away, and Mark quickly agreed to allow me to use it as the theme song. You've been hearing…

1
Epilepsy and Unmet Need, feat. The LGS Foundation and Ovid Therapeutics 42:39

2M ago42:39

42:39

This episode's guests include Dr. Tracy Dixon-Salazar, Executive Director for the Lennox-Gastaut Syndrome (LGS) Foundation, as well as Meg Alexander, Chief Strategy Officer of Ovid Therapeutics. We discuss the treatment landscape for seizure disorders such as LGS and why further research and investment is crucial. Connect with the LGS Foundation: W…

1
Why We Dose Intrathecally 29:18

2M ago29:18

29:18

The affected organs of our patients determine the route of administration for an ASO, as certain routes can better target specific organs and offer the best potency. The central nervous system (CNS) is the most common target we encounter, and for this, we dose intrathecally. Let’s dive into how this is done and the particulars of why this approach …

1
Episode 117 | Renwick Brutus tried to write his own insurance policy. But sarcoidosis intervened. 58:00

2M ago58:00

58:00

Renwick Brutus has an unusual name and a story to match. He discovered he had sarcoidosis long ago now he's working through the disease and its complications. Including the time doctors were ready to perform surgery on his brain only to... Well, I'll let Renwick finish the story. Donate to Royce and Cycle4sarc: https://stopsarcoidosis.rallybound.or…

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Ewing Sarcoma and the New Normal, feat. Patient Advocate Brandi Benson 19:48

3M ago19:48

19:48

In this episode of the podcast we sit down with Brandi Benson, a U.S. army veteran, author and patient advocate who was diagnosed with Ewing sarcoma in 2008. That’s one of rare family of cancers that develop in bones and the surrounding soft tissues. Brandi shares her story of resilience and survivorship, hoping to inspire others to share their can…

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Behind the ASO Design and Discovery with Konstantina Skourti-Stathaki, Ph.D. 27:33

3M ago27:33

27:33

Konstantina Skourti-Stathaki leads the n-Lorem research team behind the design and discovery of ASOs. Nadina, as we at n-Lorem call her, has a passion for helping patients and an excitement for science that is contagious. She joins the Patient Empowerment Program podcast to discuss her day-to-day activities as n-Lorem’s Director of ASO Design and D…

1
The Role of Endothelin in IgAN, ft. Dr. Donald Kohan : 3 17:25

3M ago17:25

17:25

Episode Overview: Donald Kohan, PhD is an Emeritus Professor at the University of Utah Health with expertise in endothelin receptors, sodium transporters, and the renin-angiotensin-aldosterone system in chronic kidney disease. In this episode, Professor Kohan provides an overview of the endothelin system and how it relates to the pathophysiology of…

1
Episode 116 | Xentria has a drug - XTMAB-16 that shows promise in fighting Sarcoidosis 1:09:47

3M ago1:09:47

1:09:47

XTMAB-16, a drug now in clinical trials has been developed by Xentria. In this episode of the FSR Sarc Fighter podcast, Noopur Singh, Vice President of marketing & Patient Affairs, and Tom Matthews, Vice President for Clinical Development join me to explain how XTMAB-16 works in the body as a "referee" to control our body's immune responses. Listen…

1
#1 Sustaining A Rare Disease Pipeline with Rocket Pharma 23:58

3M ago23:58

23:58

In this episode of "Rare Insights," host Taren Grom sits down with Dr. Kinnari Patel, President, Head of R&D and Chief Operating Officer for Rocket Pharma, to discuss the company’s burgeoning pipeline of rare disease assets and why applying data across its portfolio of potential treatments is just one key to the company’s success. Dr. Kinnari Patel…

1
50 Years of Supporting the TSC Community, feat. TSC Alliance President and CEO Kari Rosbeck 33:03

3M 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…

1
Best of the 2023 Nano-rare Patient Colloquium 36:51

3M 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…

1
Introducing Rare Insights 2:01

3M 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…

1
Episode 115 | Sarc Fighter Andrea Maione has both sarcoidosis and long COVID. It's no party. 56:23

4M 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

4M 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…

1
The Hurdles of Insuring Patients with Nano-rare Mutations with Alan Lotvin, M.D. 50:51

4M 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 …

1
Episode 114 | Influencer Jonathan Carlin uses YouTube and other social media for an FSR Fundraiser 52:35

4M 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…

1
IPF and the Importance of Clinical Trials, feat. Patient Advocate Murray Walz 18:08

4M 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: …

1
Anna’s Story of Hope and Help: FUS-ALS with Sonja Kämpfer and Dr. Neil Shneider 43:06

4M 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…

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

4M 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

5M 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 …

1
The MS Poltergeist, feat. Patient Advocate Jennifer Angus 43:48

5M 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…

1
Unmet Needs in IgAN: Burden of Disease & Long-Term Impact on Patients ft. Dr. Jonathan Barratt : 2 15:44

5M 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…

1
Episode 112 | aTyr is getting closer to a new drug to fight sarcoidosis. 52:21

5M 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…

1
Physicians and Institutions Transform the Lives of Nano-rare Patients with Olivia Kim-McManus, M.D. 48:53

5M 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"…

1
The Bespoke Gene Therapy Consortium's New Regulatory Playbook, feat. The Foundation for the National Institutes of Health and Taylor's Tale 36:30

5M 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

5M 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…

1
Advanced Genetics Part 2 25:52

6M 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…

1
Episode 110 | Walgreens is helping to fight Sarcoidosis 34:40

6M 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…

1
Hemophilia and Axel's Story, feat. Patient Advocate Kristina Robinson 27:37

6M 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…

1
Advanced Genetics Part 1 30:13

6M 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

6M 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…

1
The Road to Resilience and Self-Advocacy, feat. Patient Advocate Kecia J. 38:13

6M 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

6M 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…

1
Sharing Hope Through Storytelling & Connection with Shanna Tolbert 43:08

7M 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…

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

7M 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…

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

7M 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 …

1
Rare Cancer, Finances and Families, feat. Tony Laudadio of the Tony Foundation 48:39

7M 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…

1
Our Mission is Personal with Sarah Glass 40:54

7M 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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