최고 Rare Disease 팟캐스트 (2025)

1
New Insights into Genetically Caused Developmental Delays 21:30

5일 전21:30

21:30

Emerging observations from our work at n-Lorem suggest that not all developmental delays are permanent. In the absence of structural damage—such as microcephaly, congenital deformities of the skull or bones, or organ malformations—there appears to be potential for improvement in movement disorders, cognition, autistic features, and more. These insi…

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#64 Challenging the Label: Living and Thriving with Trisomy 18 Part 2 31:23

8일 전31:23

31:23

In this second part of our interview with Sartia Edwards, we continue a conversation about her son Elijah, who lives with Full Trisomy 18, also known as Edwards Syndrome. Sarita Edwards, MHA is the CEO & President at the E.WE Foundation, a global healthcare advocacy organization for families living with Trisomy 18 (Edwards Syndrome) and other rare …

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Episode 143 | Why Sarc patients MUST exercise and the New FSR Patient Registry explained 56:19

7일 전56:19

56:19

On Episode 143 of the FSR Sarc Fighter Podcast, I have two guests. Taylor Harwood, Senior Research Coordinator for FSR, joins me to explain the new and improved patient registry. Even if you've already registered, there is a small step you need to take to ensure researchers can find and use your valuable information. Also joining me is physical the…

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Research to Advance ASO Technology at n-Lorem 23:48

19일 전23:48

23:48

At n-Lorem, every investment decision carries real weight by directly affecting the nano-rare patients we serve. We think very deeply about each decision of how to invest the limited and precious dollars that we have. But what about investing in basic research to advance antisense oligonucleotide (ASO) technology for the future? Certainly, most of …

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Episode 142 | Dr. Courtney Montgomery is looking for the cause of Sarcoidosis. 1:03:51

22일 전1:03:51

1:03:51

Dr. Courtney Montgomery wants to know what causes sarcoidosis. She's convinced it's in your genes. Working in the clinic at the Oklahoma Medical Research Foundation, she sees patients every week, while she studies the potential link between Sarcoidosis and a person's genetic code. In this episode of the FSR Sarc Fighter Podcast, she goes over the r…

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#63 Redefining “Incompatible with Life”: A Mother’s Mission for Trisomy 18 Awareness Part 1 35:19

22일 전35:19

35:19

In this powerful episode of It Happened To Me, co-hosts Cathy and Beth sit down with Sarita Edwards, an award-winning advocate, rare disease leader, and mother to Elijah, who lives with Full Trisomy 18, also known as Edwards Syndrome. Sarita Edwards, MHA is the CEO & President at the E.WE Foundation, a global healthcare advocacy organization for fa…

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Commitment to Safety First: The DSMB 31:24

약 1년 전31:24

31:24

The Data Safety Monitoring Board (DSMB) is composed of distinguished, independent experts in antisense oligonucleotide (ASO) technology, clinical trial design and evaluation, and drug development. Many are also dedicated clinicians who care for patients with rare diseases. This board provides unbiased safety oversight by reviewing accumulated data …

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Episode141| A tough patch for me and Royce Roberston rides for all of us. 38:53

약 1년 전38:53

38:53

In this episode Royce Robertson joins me to talk about how he's raising money to make it easier for Sarcoidosis patients to travel to and from their appointments. It can be expensive to travel great distances to the right doctor, as he knows first-hand. Royce and I are also part of a panel discussion on exercise and sarcoidosis coming up at the FSR…

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#62 Vision Through Music: Empowering Visually Impaired Kids with Adaptive Music Education 38:38

약 1년 전38:38

38:38

In this inspiring episode, we’re exploring the powerful intersection of music and accessibility with three incredible guests: Dr. Bradley Black, a world-renowned pediatric ophthalmologist and founder of the Vision Through Music program, Makayla, a passionate young musician and student in the program, and Maykaya’s mother Joann. Dr. Bradley Black (h…

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Connor Gooley's Story: A First for TUBB4A Treatment 46:49

약 1년 전46:49

46:49

Connor Gooley is the first patient ever treated with an ASO for TUBB4A-Related Leukodystrophy, a condition that severely disrupts his nervous system, slows nerve impulses, and impairs his fine motor skills. As a result, Connor cannot speak, walk, sit up on his own, or chew well. Still, he manages to army crawl, propel himself in his wheelchair, and…

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Episode 140 | Getting your questions answered at the 2025 FSR Global Virtual Sarcoidosis Summit 49:42

약 1년 전49:42

49:42

If there is one place to meet other sarcoidosis patients and to get your questions answered, from insurance denials to sex after sarc, it's at the 2025 FSR Global Virtual Sarcoidosis Summit. The Summit is happening on June 28th and 29th. And the deadline to sign up is June 14. Joining me on the show today are Elise Hoover, VP for Research at FSR, a…

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#61 How Jack’s Basket Is Changing the Down Syndrome Diagnosis Story 43:19

약 1년 전43:19

43:19

In this heartfelt episode we welcome guest Carissa Carroll, M.Ed., Founder and Executive Director of Jack’s Basket, a nonprofit that has transformed the way families experience a Down syndrome diagnosis. A former educator with degrees from Bethel University and the University of Minnesota, Carissa taught at both the elementary and collegiate levels…

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What Are iPSCs—and Why Do They Matter? 20:08

약 1년 전20:08

20:08

Induced pluripotent stem cells (iPSCs) are a groundbreaking, and mind-blowing, scientific advancement—one of many that help make it possible for n-Lorem to do what we do. In short, typical skin cells (such as fibroblasts) are taken from an individual and reprogrammed using specific factors to become iPSCs. These iPSCs are then redifferentiated into…

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From Podocyte to Patient: The Pathophysiology of FSGS 28:39

약 1년 전28:39

28:39

In this episode, Drs. Tobias Huber and Chris Gisler take a deep dive into the critical role of podocytes in kidney health and their involvement in the development and progression of FSGS. They explore how podocyte injury leads to the breakdown of the glomerular filtration barrier and the emergence of proteinuria. They highlight the intertwined role…

1
Episode 4: Industry Partner Perspectives 12:04

약 1년 전12:04

12:04

“In the rare disease space, zebras really do exist. They need care just like everybody else.” — Fran Akoh, Ultragenyx Pharmaceutical In the final episode of our Rare Disease Day 2025 podcast series, we hear from two industry leaders who are helping connect scientific discovery to real-world impact. Fran Akoh, Medical Science Liaison at Ultragenyx P…

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Episode 139 | Dr. Sotonye Imadojemu talks about Sarcoidosis of the Skin. 46:25

약 1년 전46:25

46:25

In this Episode of the FSR Sarc Fighter Podcast Dr. Sotonye Imadojemu joins me to talk about sarcoidosis of the skin or cutaneous sarcoidosis. It's very common, but we don't always talk about it. sometimes it is it's own problem, and often it represents a hidden issue with sarcoidosis concerning additional organ involvement. Dr. I is an expert work…

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Episode 3: Voices From the Bench and the Bedside 23:26

약 1년 전23:26

23:26

“To really understand these diseases, you need to work together—clinicians, researchers, families. That’s how we make progress.” — Jessica Ayers What drives scientists and clinicians to dedicate their careers to rare disease research? In this episode of PNRI Science: Rare Disease, Real Progress, we hear from individuals at every stage of their care…

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#60 CRISPR, Community, and Courage: A Deep Dive into Sickle Cell Advocacy 36:25

약 1년 전36:25

36:25

In this powerful episode of It Happened To Me, co-hosts Cathy Gildenhorn and Beth Glassman are joined by two fierce patient advocates and changemakers in the sickle cell disease community: Wunmi Bakare and Dima Hendricks. Both women are living with sickle cell disease and have transformed their lived experiences into platforms for storytelling, edu…

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Episode 138 | Katie Pantea had a hard time even remembering her neuro sarcoidosis 1:10:10

약 1년 전1:10:10

1:10:10

Katie Pantea has multi-organ involvement of sarcoidosis. But when it struck her nervous system, doctors struggled to diagnose her as she began to lose her memory of daily events. In this episode of the FSR Sarc Fighter Podcast, Katie talks about how she's been able to fight back and piece together events that initially she could not recall. It also…

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Biological Systems & Chemical Networks 25:23

약 1년 전25:23

25:23

What Are Chemicals? | How Drugs Work in the Body | Understanding Homeostasis We’re all made of chemicals—but what exactly is a chemical? In this video, we break down the basics: chemicals are forms of matter that exist as solids, liquids, or gases. Inside living organisms, these chemicals create complex networks that keep us alive and balanced—a pr…

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Episode 2: Driven by Diagnosis 18:57

약 1년 전18:57

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

약 1년 전14:15

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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#59 From Diagnosis to Memoir: Laura Kieger’s Mission to Share Her Family’s FAP Story 30:41

약 1년 전30:41

30:41

In this powerful episode of It Happened To Me, hosts Beth Glassman and Cathy Gildenhorn are joined by author, advocate, and healthcare leader Laura Kieger, who shares her family’s deeply personal journey with FAP (Familial Adenomatous Polyposis), a rare genetic condition that significantly increases the risk of colorectal and other cancers. Laura’s…

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

약 1년 전2:12

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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Why ASO Technology? 29:22

약 1년 전29:22

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

약 1년 전1:01:20

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

약 1년 전57:59

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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#58 Living Deafblind: Carrie Francis’ Resilience After 5th Degree Facial Cleft 44:34

약 1년 전44:34

44:34

Hosts Beth and Cathy sit down with Carrie Francis, a university student and passionate advocate for the blind, visually impaired, and deafblind communities. Carrie, born with a rare 5th-degree facial cleft, has overcome extraordinary medical challenges, including severe blindness and hearing impairment. Despite being told she wouldn’t survive beyon…

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

약 1년 전38:55

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

약 1년 전1:18:23

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

약 1년 전58:43

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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#57 APOL1-Mediated FSGS: What Families Need to Know, from Diagnosis to Advocacy 30:09

약 1년 전30:09

30:09

Jaime Albright Henighan shares her family’s journey after two of her sons, Joshua and Jorden, were diagnosed with a rare genetic kidney disease called APOL1-mediated FSGS (Focal Segmental Glomerulosclerosis). Jaime’s story highlights the importance of early detection, education, and advocacy for families navigating this challenging condition. She d…

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Our Mission is Personal with Sarah Glass 41:36

약 1년 전41:36

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

약 1년 전54:31

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

약 1년 전34:19

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

약 1년 전21:11

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

약 1년 전53:03

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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#56 Navigating Dual Diagnoses: Amy Raskin Shares Parenting Strategies for Diabetes and Celiac 45:56

약 1년 전45:56

45:56

Guest Amy Raskin shares her experience parenting a child living with type 1 diabetes (T1D) and celiac disease. Amy shares her personal experiences, the challenges her family has faced, and the strategies they’ve developed to support her son Andrew’s health and well-being. Amy Raskin is a pioneer in global thematic investing and widely respected as …

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

약 1년 전36:12

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

약 1년 전32:43

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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#55 Growing Up with a Childhood Autoimmune Disease with Beth Glassman 41:14

약 1년 전41:14

41:14

Co-host Cathy Gildenhorn takes on the interviewer role to explore the personal story of her co-host, Beth Glassman. Beth shares her journey of living with a childhood autoimmune disease, offering insights into her diagnosis, its impact on her early life, and how it shaped her perspective as an adult. On Episode #54, Beth interviewed Cathy about her…

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

약 1년 전49:30

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

약 1년 전1:01:11

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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#54 Family Planning Challenges: Cathy Gildenhorn on Miscarriages and The Miracle of Adoption 30:24

약 1년 전30:24

30:24

In this heartfelt episode of It Happened To Me, we’re turning the microphone inward as co-host Beth Glassman interviews her co-host and dear friend, Cathy Gildenhorn. Cathy shares her deeply personal journey through family planning, recurrent miscarriages, and adoption, offering hope and guidance to listeners navigating similar challenges. Cathy’s …

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Sloane's Story: A Shared Medicine 53:31

약 1년 전53:31

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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#53 From Journalist to Advocate: Laura Bonnell’s Mission to Support Cystic Fibrosis Families 48:19

약 1년 전48:19

48:19

In this episode of It Happened To Me, co-hosts Beth Glassman and Cathy Gildenhorn sit down with Laura Bonnell, a seasoned journalist with 25 years of experience in Detroit, founded The Bonnell Foundation in 2010 after her daughters, Molly and Emily, were born with cystic fibrosis (CF). Despite having ten siblings between them, Laura and her husband…

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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

약 1년 전57:06

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

약 1년 전45:30

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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#52 Adaptive Toys for Kids with Disabilities: Inspiration from Daughter with Rett Syndrome 41:28

약 1년 전41:28

41:28

In this episode of It Happened To Me, we’re honored to welcome Sam Ahlstrom, father to Zoey, a remarkable young girl living with Rett syndrome. Sam shares his family’s journey from diagnosis to advocacy, offering an inspiring look into how they’ve transformed challenges into opportunities for connection and innovation. Rett syndrome is a rare neuro…

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ASN Update - Sparsentan Redefining IgAN Treatment 19:07

약 1년 전19:07

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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