Accepting What We Can’t Understand

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#Health Industry #Business #Health Care #Rare Disease #RARECast #Health and Well-Being

22:08

Host Francesca Amiker sits down with directors Joe and Anthony Russo, producer Angela Russo-Otstot, stars Millie Bobby Brown and Chris Pratt, and more to uncover how family was the key to building the emotional core of The Electric State . From the Russos’ own experiences growing up in a large Italian family to the film’s central relationship between Michelle and her robot brother Kid Cosmo, family relationships both on and off of the set were the key to bringing The Electric State to life. Listen to more from Netflix Podcasts . State Secrets: Inside the Making of The Electric State is produced by Netflix and Treefort Media.…

hace un año 47:17

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In “More than We Expected: Five Years with a Remarkable Child,” James Robinson recounts the life and death of his son Nadav, who was born with a congenital heart condition. The book follows the family’s efforts to address and manage Nadav’s rare condition. As tragic as losing a child is, Robinson says his book is not a sad story. In fact, the book is filled with Robinson’s encounters with the wonders of parenthood, human kindness, and unexpected connections. We spoke to Robinson about his experience as the father of a child with a rare disease, life in hospital wards across two continents, and the feeling of pride in his son that remains.

536 episodios

RARECast

Accepting What We Can’t Understand

RARECast

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published hace un año

MP3•Episodio en casa

536 episodios

#Health Industry #Business #Health Care #Rare Disease #RARECast #Health and Well-Being

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1
Engineering Skin Bacteria to Be Live Biotherapeutics 28:27

hace 2 días28:27

28:27

Netherton syndrome is a rare and chronic skin condition. One in ten infants with the disease will die as a result of infections and related complications. Azitra has developed a platform for engineering bacteria that naturally colonize the skin to produce proteins with therapeutic benefits to treat Netherton syndrome and other conditions. We spoke to Travis Whitfill, co-founder and chief operating officer of Azitra, about Netherton syndrome, the company’s platform technology for engineering live biotherapeutic products, and why it takes more than simply inserting a gene into a desired bacteria to produce these treatments.…

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Seeing the Gene and Cell Therapy Translational Divide as an Opportunity 33:58

hace 9 días33:58

33:58

Emerging cell and gene therapies represent areas of great promise for people with rare, genetic diseases, but the translation gap for these medicines can leave them stalled at the lab. Mass General Brigham in 2022 launched the Gene and Cell Therapy Institute, a research hub dedicated to advancing gene and cell therapies for various diseases to bridge the divide between academic labs and clinical development of therapies. The institute brings together more than 500 researchers and clinicians and boasts unique assets, such as its RNA Therapeutics Core, which enable it to produce cutting-edge circular RNA on-site. We spoke to Nathan Yozwiak, head of research at the Mass General Brigham Gene andCell Therapy Institute, about the need it is seeking to address, how the institute operates, and what it might do to enable the development of bespoke therapies for ultra-rare diseases.…

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My Mother, Myself, and ALS 27:47

hace 16 días27:47

27:47

Raziel Green lost both her mother and aunt to the rare neurodegenerative disease amyotrophic lateral sclerosis or ALS. But when Green, a runner, began experiencing muscle weakness and falls, doctors failed to recognize that she had a genetic form of the condition. Two years after she first sought care, she was diagnosed with the SOD1 form of the disease and enrolled in a clinical trial of what would become the antisense oligonucleotide Qalsody. We spoke to Green about her experience with ALS, her decision to enroll in a clinical trial, and her health more than eight years after her diagnosis.…

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From Immovable Object to Advocacy Force 24:11

hace 23 días24:11

24:11

While traveling in Australia, Russ Walter was taken to the hospital and treated for heart palpitations. When he returned home, he soon lost the ability to walk. He was diagnosed with the rare autoimmune condition Guillian-Barre syndrome and spent three months in intensive care and rehabilitation. It would take nearly a year of physical therapy before he could walk again. We spoke to Walter, liaison and board member of the GBS-CIDP Foundation International, about his recovery from Guillian-Barre syndrome, the changing medical landscape for the condition, and why his experience led him to become a patient advocate…

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A Rapid and Scalable Approach for Screening Personalized ASOs 23:56

hace 4 weeks23:56

23:56

Organoids, three-dimensional cell models that can replicate an individual’s organs, are valuable tools for testing medicines that might treat their illness. It can, however, take up to $10,000 and a year to grow organoids using conventional methods from patient-derived induced pluripotent stem cells. Researchers at Children’s Mercy Kansas City’s Genomic Medicine Center developed a way to do this from about $200 and in two to three weeks. We spoke to Scott Younger, director of disease gene engineering at Children Mercy Kansas City’s Genomic Medicine Center, about the process, the test it ran to match three children with Duchenne muscular dystrophy to an antisense oligonucleotide therapy, and the potential impact this may have on developing customized therapies for people with rare genetic diseases.…

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Addressing the Disease Mechanism of a Rare Kidney Disease 25:52

hace 5 weeks25:52

25:52

IgA nephropathy is a rare autoimmune kidney disease that can lead to the loss of kidney function. Though a number of treatment options exist today, none address the root cause of the disease and instead seek to manage symptoms, slow progression, or prevent complications. Vera Therapeutics’ experimental fusion protein atacicept, in a phase 2B study, showed the ability to provide long-term kidney function stabilization. We spoke to Marshall Fordyce, founder and CEO of Vera Therapeutics, about IgA nephropathy, atacicept, and its potential in other B cell-mediated diseases.…

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The Mother of a Son with SCD, Applies Direct Experience to Her Clinical Trials Work 38:42

hace 6 weeks38:42

38:42

When Katrina Rice’s son was diagnosed with the rare, hematological disorder sickle cell disease, she got to spend a lot of time understanding how a rare disease affects the daily life of people with a condition and their caregivers. Her son, now 28, has become a participant in clinical trials, and that’s further broadened Rice’s perspective as chief delivery officer of biometrics services at the clinical trial data management and analytics company eClinical Solutions. We spoke to Rice about sickle cell disease, how her experience as a mother of a child with a rare disease has informed her professional life, and how she has used that to educate her colleagues and clinical trial sponsors about how to better engage with rare disease clinical trial participants.…

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A First for Rett Syndrome with More in the Pipeline 23:07

hace 7 weeks23:07

23:07

In 2023, Acadia Pharmaceuticals won approval for Daybue, the first and only treatment for the rare, neurodevelopmental disorder Rett syndrome. Daybue is not a cure and Acadia continues to pursue additional therapies for the condition including an antisense oligonucleotide therapy to upregulate a protein people with Rett syndrome lack. We spoke to Elizabeth Thompson, executive vice president and head of research and development for Acadia, about Rett syndrome, how Daybue has changed the treatment landscape for people with the condition, and the company’s advancing pipeline to treat it.…

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A Heart Attack that Led to a Rare Disease Diagnosis 30:13

hace 8 weeks30:13

30:13

When Patty Keating had her thyroid removed, she experienced what she described as a “buzzing in her face,” had trouble sleeping, and felt anxious. Her symptoms grew worse and she had trouble climbing stairs. Then, six months later, her heart started racing, and her husband rushed her to the hospital, where tests showed she was having a heart attack. But when doctors performed catheterization to clear a blockage, they found there was none. It was then that she was diagnosed with hypoparathyroidism. Hypoparathyroidism is often underdiagnosed and undertreated rare condition. While it can have a genetic cause, it can also result from surgery or injuries to the neck that damage the parathyroid glands. These glands are a group of four, pea-sized objects at the back of the thyroid that create a hormone that plays an essential role in regulating blood calcium levels. The absence or damage of these glands can cause a wide range of health problems. We spoke to Keating, executive director of the HypoPARAthyroidism Association, about her experience with the condition, why it can be challenging to diagnose, and the changing treatment landscape.…

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Targeting Rare Liver Diseases with Gene Editing Therapies 23:33

hace 9 weeks23:33

23:33

Earlier this year iECURE reported that an infant with the rare and deadly liver disease OTC deficiency had a complete response to its experimental gene editing therapy. It is believed to be the time that an infant was treated with an in vivo , liver-directed gene editor. The treatment restored ammonia levels in the child’s blood to normal and the child is off of ammonia scavenger medicines and is eating a normal diet. We spoke to Joe Truitt, CEO of iECURE, about the company’s experimental therapy for OTC, how it works, and its approach to in vivo gene editors.…

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Using AI to De-Risk Rare Disease Drug Development 43:37

hace 10 weeks43:37

43:37

Healx, which developed an AI platform to repurpose drugs for rare diseases, is among the first generation of companies built on an AI drug discovery engine. The company’s lead experimental therapy, which the U.S. Food and Drug Administration granted Fast Track designation to in October 2024, is in mid-stage development for neurofibromatosis type 1, a rare genetic condition that causes tumors to grow on nerves. A deal at the end of 2024 shows expanded uses for its platform technology as Sanofi entered into an agreement to see if the company could find new indications for a late-stage asset that it had discontinued. We spoke to Tim Guilliams, co-founder and CEO of Healx, about the origin of the company, its lead asset in development for neurofibromatosis type 1, and how he views the company’s progress to date.…

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Addressing a Growing Demand for Plasma-Derived Therapies 30:39

hace 11 weeks30:39

30:39

Primary immunodeficiency disorders include more than 400 conditions, and a growing number of people are being recognized as having them as a result of improved diagnostic tools and greater awareness among physicians. Most treatments for these conditions are plasma-derived therapies sourced from donors. We spoke to Joerg Schuettrumpf, chief scientific innovation officer at Grifols, about the changing landscape for these conditions, the challenges of ensuring a reliable supply of plasma-derived therapies, and how treatment options may evolve.…

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Empowering Patients with Data to Drive Drug Development 43:19

hace 12 weeks43:19

43:19

In November, Citizen Health unveiled itself with $14.5 million in funding and a partnership with the Chan Zuckerberg Initiative. A reinvention of what began life as Ciitizen, Citizen Health takes a sharp focus on rare disease, a departure from its precursor, which was initially envisioned as a tool for cancer patients to gather all of their health data in a single place. We spoke to Citizen Health Co-Founders Farid Vij and Nasha Fitter about the evolution of Citizen Health, what it will enable, and how it is helping shift power towards patients and their caregivers in the pursuit of new therapies.…

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How Advocates Are Advancing a Treatment for an Ultra-Rare Disease 27:06

hace 13 weeks27:06

27:06

Michelle Teng, a techbio entrepreneur, co-founded the H-ABC Foundation after her daughter was diagnosed with the ultra-rare and fatal leukodystrophy. The foundation funded research that identified the causal mutation of the condition and pointed the way to a potential therapy. Teng later joined with Dan Williams to co-found SynaptixBio to advance that work and develop an experimental antisense oligonucleotide therapy to silence the mutated gene underlying a form of the progressive neurological condition. We spoke to Williams, co-founder and CEO of SynaptixBio, about H-ABC, how the company’s experimental therapy works, and the role patient advocates have played in the company’s efforts to advance its experimental therapy.…

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Engineering B Cells to Produce Therapeutic Proteins 31:53

hace 14 weeks31:53