Beste Rare Disease podcaster (2024)

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

3d 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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Spreading PAH Awareness featuring Steve Smith 25:38

21d 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 125 | All about our session with the FDA as the Sarc community makes its case. 31:29

18d 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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Episode 124 | FSR CEO Mary McGowan on how we are taking the sarcoidosis message to the FDA 42:59

1M 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

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

2M 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

2M 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

2M 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

2M 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 122 | Lindsay Lawrence was a surfer until sarcoidosis pulled her under 1:01:32

2M 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

2M 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 121 | Wade Tomlinson needed a lung transplant 1:17:38

2M 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

3M 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

3M 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 120 | Dr. Kamal Bharucha is a researcher who found himself a heartbeat away from real trouble 1:09:19

3M 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

3M 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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Knowledge is Power: Part 1 35:19

3M 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…

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

3M 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…

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Episode 119 | Jessica Soules deals with Neurosarcoidosis 55:37

3M 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…

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Adopting a Rare Son with Paul Compton 33:39

4M 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…

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

4M 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…

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

4M 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 …

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Ion Channel Mutations: The Complexities of Treatment 30:16

4M 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 …

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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

4M 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…

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

4M 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…

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Why We Dose Intrathecally 29:18

5M 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 …

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

5M 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

5M 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

5M 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…

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

5M 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…

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

5M 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…

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

5M 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…

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

5M 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

5M 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

5M 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

6M 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

6M 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

6M 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

6M 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

6M 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

6M 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

7M 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

7M 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

7M 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

7M 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

7M 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

7M 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

7M 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

8M 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

8M 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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