Player FM - Internet Radio Done Right
28 subscribers
Checked 6d ago
اضافه شده در ten سال پیش
محتوای ارائه شده توسط RARECast. تمام محتوای پادکست شامل قسمتها، گرافیکها و توضیحات پادکست مستقیماً توسط RARECast یا شریک پلتفرم پادکست آنها آپلود و ارائه میشوند. اگر فکر میکنید شخصی بدون اجازه شما از اثر دارای حق نسخهبرداری شما استفاده میکند، میتوانید روندی که در اینجا شرح داده شده است را دنبال کنید.https://fa.player.fm/legal
Player FM - برنامه پادکست
با برنامه Player FM !
با برنامه Player FM !
پادکست هایی که ارزش شنیدن دارند
حمایت شده
L
Lipstick on the Rim


1 Amy Schumer & Brianne Howey on the Importance of Female Friendships, Navigating Hollywood's Double Standards, Sharing Their Birth Stories, and MORE 50:05
This week, in what might be the funniest episode yet, Molly and Emese are joined by co-stars Amy Schumer and Brianne Howey. They get candid about motherhood, career evolution, and their new film, Kinda Pregnant —which unexpectedly led to Amy’s latest health discovery. Amy opens up about how public criticism led her to uncover her Cushing syndrome diagnosis, what it’s like to navigate comedy and Hollywood as a mom, and the importance of sharing birth stories without shame. Brianne shares how becoming a mother has shifted her perspective on work, how Ginny & Georgia ’s Georgia Miller compares to real-life parenting, and the power of female friendships in the industry. We also go behind the scenes of their new Netflix film, Kinda Pregnant —how Molly first got the script, why Amy and Brianne were drawn to the project, and what it means for women today. Plus, they reflect on their early career struggles, the moment they knew they “made it,” and how motherhood has reshaped their ambitions. From career highs to personal challenges, this episode is raw, funny, and packed with insights. Mentioned in the Episode: Kinda Pregnant Ginny & Georgia Meerkat 30 Rock Last Comic Standing Charlie Sheen Roast Inside Amy Schumer Amy Schumer on the Howard Stern Show Trainwreck Life & Beth Expecting Amy 45RPM Clothing Brand A Sony Music Entertainment production. Find more great podcasts from Sony Music Entertainment at sonymusic.com/podcasts and follow us at @sonypodcasts To bring your brand to life in this podcast, email podcastadsales@sonymusic.com Learn more about your ad choices. Visit podcastchoices.com/adchoices…
RARECast
علامت گذاری همه پخش شده(نشده) ...
Manage series 60790
محتوای ارائه شده توسط RARECast. تمام محتوای پادکست شامل قسمتها، گرافیکها و توضیحات پادکست مستقیماً توسط RARECast یا شریک پلتفرم پادکست آنها آپلود و ارائه میشوند. اگر فکر میکنید شخصی بدون اجازه شما از اثر دارای حق نسخهبرداری شما استفاده میکند، میتوانید روندی که در اینجا شرح داده شده است را دنبال کنید.https://fa.player.fm/legal
RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.
531 قسمت
علامت گذاری همه پخش شده(نشده) ...
Manage series 60790
محتوای ارائه شده توسط RARECast. تمام محتوای پادکست شامل قسمتها، گرافیکها و توضیحات پادکست مستقیماً توسط RARECast یا شریک پلتفرم پادکست آنها آپلود و ارائه میشوند. اگر فکر میکنید شخصی بدون اجازه شما از اثر دارای حق نسخهبرداری شما استفاده میکند، میتوانید روندی که در اینجا شرح داده شده است را دنبال کنید.https://fa.player.fm/legal
RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.
531 قسمت
همه قسمت ها
×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.…
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.…
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.…
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.…
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.…
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.…
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.…
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.…
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.…
Gene therapies that use viral vectors generally are not redosable because once patients are exposed to the virus used to insert the gene, their immune system will become activated against them. Immusoft is using a patient’s own B cell and engineering them to produce needed proteins by transforming them into biofactories without the use of a viral vector. The company’s lead experimental therapy is an autologous B cell therapy engineered to produce the enzyme that people with the rare lysosomal storage disorder MPS I are deficient. We spoke to Sean Ainsworth, CEO of Immusoft, about MPS I, the limits of existing enzyme replacement therapies, and the potential benefits of using engineered B cells to treat people with the metabolic disorder and other conditions.…
BridgeBio has been an innovator in applying portfolio theory to its business model as a way to broaden access to capital. The company recently had a big win with its approval for Attruby, its treatment for the rare condition transthyretin amyloidosis cardiomyopathy. The approval is a boost for the company, which, like many biotechs, had to scale back on programs in the face of the downturn in capital markets in recent years. We spoke to Neil Kumar, co-founder and CEO of BridgeBio, about the approval of Attruby, the company’s late-stage pipeline, and what he’s learned about its business model in the process.…
The Genomic Answers for Kids program at Children's Mercy Kansas City has increased access to cutting-edge genomic sequencing for children suspected of having rare genetic diseases and improved the diagnostic yield of these tests. The program has collected samples from 8,000 rare disease patients and their family members and diagnosed about 2,000 people to date. Nevertheless, payers have been reluctant to increase reimbursement rates for more comprehensive genomic testing, posing a challenge to its sustained and expanded use for children who can benefit from it. We spoke to Tomi Pastinen, director of the Center for Pediatric Genomic Medicine at Children’s Mercy Kansas City, about the success of the program to date, the reimbursement challenges, and the future of the technology.…
Anthony Monaco takes part in weightlifting and crossfit competitions, but that came only after he was diagnosed at the age of 19 with the rare, neuromuscular condition Friedreich’s ataxia. As the condition progressed, he had to give up on his plans of becoming at tattoo artist. Once he became reliant on a wheelchair, he began to withdraw from the world, not wanting people to see his disability on full display. That changed when he went with a friend on an extended cross-country trip that provided him with a new outlook on life. We spoke to Monaco about coming to terms with his diagnosis, how he was forced to abandon some dreams, and how he was able to find new ones to pursue.…
Genethon, the non-profit gene therapy developer created by the patient association AFM-Telethon, began working with Sarepta Therapeutics in 2017 to develop a gene therapy for the rare neuromuscular condition Duchenne muscular dystrophy. Now that Sarepta has won approval for a separate gene therapy to treat the condition, Genethon is advancing development of its experimental gene therapy on its own. We spoke to Frederic Revah, CEO of Genethon, about Duchenne, the organization’s efforts to complete clinical development of its gene therapy for the condition, and how it might commercialize the treatment.…
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.…
Noam Baumatz entered the world of gene therapy as a father in pursuit of a life-savings treatment for his daughter Noga, who was born with an ultra-rare immunodeficiency. Though she died before a treatment could be developed, Baumatz launched Noga Therapeutics to try to help others in the rare disease community. The company’s platform technology uses lentiviral-based vectors to genetically reprogram blood stem cells. It is developing therapies for both rare and common diseases. We spoke to Baumatz about his experience with his daughter, the vision for Noga Therapeutics, and the company’s business decision to pursue both rare and common diseases.…
R
RARECast

1 Lowering Barriers to Clinical Trial Participation with Do-It-Yourself Blood Sample Collection 26:54
The work of Boston Children’s Hospital’s Timothy Yu to develop a customized antisense oligonucleotide to treat Mila, a child with an ultra-rare neurodegenerative disease, created much excitement for the potential of N-of-1 therapies. Julia Vitarello, Mila’s mother, has talked about going from Mila to millions and co-founded EveryONE Medicines to enable the development of individualized therapies on a large scale. Earlier this year the company named industry veteran Kent Rogers as its CEO. We spoke to Rogers about the challenges of building a sustainable business model for the development of individualized therapies, the regulatory hurdles it may face, and what it will take to get payers to embrace such medicines.…
For some genetic diseases, there is not only the need to replace the function of a gene that is lost, but to also address toxicities that a mutated gene may cause. There is currently no available treatment targeting diseases that result from both loss and gain of function mutations. NGGT uses dual-functional vectors to simultaneously remove harmful, mutated genes and replace them with normal, healthy genes to restore cellular function. We spoke to Guang Qu, chief operating officer and co-founder of NGGT, about the company’s approach to gene therapies, how it is leveraging its platform technologies to cost-effectively accelerate development of these therapies, and the pipeline it is building.…
Allison Freedman was an avid hiker, mother of young twins, and had just completed an MBA when she began suffering from severe back and rib pain and overwhelming fatigue. Repeated visits to the doctor and medical testing left her without a diagnosis. As her pain worsened, imaging revealed she had multiple broken ribs and vertebrae. At 42, a bone marrow biopsy confirmed that she had the blood cancer multiple myeloma. Freedman underwent intensive treatment including chemotherapy and a stem cell transplant. At one point she became bedridden. Though she went into remission, she had been unable to live the active lifestyle she previously enjoyed and took to physical therapy to build back her strength and regain her abilities. At 50, she managed to climb Mount Kilimanjaro in Tanzania and now mentors others with multiple myeloma. We spoke to Freedman about her journey through diagnosis and treatment, her recovery, and why she went from not wanting to talk about her condition to being a patient advocate.…
Despite advancements in genetic testing, people with rare diseases often face a prolonged diagnostic odyssey involving multiple physician visits and misdiagnoses. Genetic testing company GeneDX is working to shorten the path to a diagnosis by expanding access to sequencing, collaborating with researchers, and accumulating data to better understand gene-disease relationships. We spoke to Katherine Stueland, CEO of GeneDx, about the state of genetic testing, what its 2022 acquisition by the AI-drive genomics company SEMA4 has meant to it, and what she thinks it will take to make meaningful change to the diagnostic odyssey.…
Standard exome sequencing, which maps the protein coding regions of the genome, will deliver a diagnosis of someone with a rare disease in about 35 percent of cases. Ambry Genetics' ExomeReveal seeks to improve the diagnostic yield of these tests by adding RNA analysis to exome testing. That can help resolve variants of uncertain significance in about 2 to 3 percent of the cases. Ambry will also perform continuous reanalysis of the results over time to take into account new gene-disease relationships as they are discovered. This provides a diagnosis to about 5 percent of those without an answer. We spoke to Brigette Tippin Davis, chief operating officer for Ambry Genetics, about the diagnostic odyssey for people with a rare disease, Ambry’s new ExomeReveal test, and what people can do to accelerate their path to a diagnosis.…
Monica Coenraads, the mother of a daughter with Rett Syndrome, has played a critical role in catalyzing development of therapies to treat the rare, neurological disease. She co-founded and served as director of research for the Rett Syndrome Research Foundation. She later founded and today serves as CEO of the Rett Syndrome Research Trust. Her work shows how patient organizations can bridge the translational divide and de-risk rare disease drug development for biopharmaceutical companies. We spoke to Coenraads about her experience with Rett syndrome as a mother of a daughter with the condition, how she crafted a scientific agenda for the organizations she founded, and what other rare disease organizations can learn from her experience.…
Earlier this year, the company gained attention when it reported that developed a customized antisense oligonucleotide to treat a boy with an ultra-rare neurodevelopmental disorder in a year’s time. The company is leveraging AI to develop oligonucleotide medicines on demand. We spoke to Chris Hart, co-founder, president and CEO of Creyon Bio; about the proof-of-concept achieved with its recent N-of-1 therapy, the business model for Creyon, and the potential for its approach to reduce the time and cost of drug development.…
When Yiwei She’s son Leo was diagnosed with a severe neurodevelopmental condition, he was one of only two people known to have the ultra-rare disease. In a year, though, working with Creyon Bio, the family was able to move from the start of research for an ASO to treating Leo with the experimental therapy. We spoke to She, founder of the TNPO2 Foundation, about how her family was able to treat her son Leo with an experimental ASO with relative speed, the work the TNPO2 Foundation is doing to accelerate the diagnosis of other children with ultra-rare conditions, and its efforts to find accessible and affordable pathways to treatments for others.…
Rare disease patient organizations are increasingly driving the discovery and development of therapies to treat the conditions on which they are focused. Organizations are seeking ways to accelerate these programs and advance them to the point where a biopharmaceutical partner might be willing to take them over. DevineBio was created to partner with patient organizations and provide them with the capability to discover and develop therapies and advance them to the clinic. We spoke to Chris Hopkins, CEO of DevineBio, about how the company works with patient organizations, how far it will advance programs, and its exit strategy.…
Gene therapies have emerged as an important and growing area of medicine, but various players in the healthcare continuum are trying to understand the unique development, regulatory, and other issues surrounding this emerging modality. Avery McIntosh and Alex Sverdlov, both biostatisticians, have edited the new book “Development of Gene Therapies: Strategic, Scientific, Regulatory, and Access Considerations,” a reflection of their efforts to understand the complex of considerations the advent of these therapies raise. We spoke to McIntosh, director at Pfizer, and Sverdlov, senior director of statistical analysis at Novartis, about their new book, how a pair of biostatisticians view the challenges of gene therapy development, and why these therapies don’t easily fit into existing models.…
Siblings and children of people with the rare, neurodegenerative disease amyotrophic lateral sclerosis are being offered a test in the United Kingdom at no-cost to see if they carry mutations to one of more than 40 genes that would make it likely for them to develop the condition. Sano Genetics developed the test under a grant from Innovate UK. The hope is the effort will expand the understanding of the condition while allowing people who are likely to develop the disease to make informed decisions about their lives. We spoke to Paul Wicks, vice president of neuroscience for Sano, about its test for ALS-related gene mutations, how it works, and why some healthy people might want to take advantage of it.…
Multiple sulfatase deficiency is a rare and progressive neurodegenerative disease. The patient advocacy organization United MSD Foundation has been able to advance a gene therapy into preclinical development for the ultra-rare condition through modest investment by pursuing a focused research strategy and leveraging partnerships. In May 2023, The Bespoke Gene Therapy Consortium, the National Institutes of Health-led public-private partnership selected the program for its clinical trial portfolio and will fund a phase 1/2 clinical trial for the therapy. We spoke to United MSD Foundation Executive Director Sarah Cortell Vandryspen, and UT Southwestern Gene Therapy Core Director Steven Gray. about United MSD Foundation’s research strategy, what enabled it to advance a gene therapy as fast as it did, and what other patient organizations can learn from its success.…
Despite the growing demand for genomic data and the falling price of genome sequencing, costs continue to restrain its use. Single Technologies, which is developing a three-dimensional approach to sequencing, believes it can cut the cost to just $10 per genome for consumables. That’s a drop from estimates of about $600 today. We spoke to Johan Strömqvist, CEO and founder of Single Technologies and Bob Kain, advisor to the company, about its 3-D Sequencing, how it works, and how this can open up expansive use of the technology.…
به Player FM خوش آمدید!
Player FM در سراسر وب را برای یافتن پادکست های با کیفیت اسکن می کند تا همین الان لذت ببرید. این بهترین برنامه ی پادکست است که در اندروید، آیفون و وب کار می کند. ثبت نام کنید تا اشتراک های شما در بین دستگاه های مختلف همگام سازی شود.