Podcasts about orphan diseases

**Anzeige** Wie ist der aktuelle Stand der Forschung zu innovativen Therapien bei seltenen Erkrankungen, und welche Wege gibt es zur Verbesserung der Patientenversorgung? Der „Presse“-Podcast liefert Antworten auf diese wichtigen Fragen.

"It's progress we couldn't have envisioned decades ago." - Oscar “I felt interested in being part of something bigger than my practice and something that will impact even more people that I was able to in the hospital.” - Carolina Dr. Oscar Bronsther and Dr. Carolina Escobar from Interlink joined me this week to discuss the exciting and scary world of cell and gene therapy, CRISPR, and how we fund these amazing medical advances.  In addition to me attempting to act smart enough to be in the same room as these two, we covered their wholistic approach to this emerging scientific field, which promises potential cures for rare and debilitating diseases, but often comes with 7-figure price tags. The rare genetic diseases are known as “orphan diseases”, and there have been some recent incredible advances in detecting them early on in life. We talked about what this all means for individuals as well as the insurance space as a whole, and how it has the potential to increase medical costs in this country even further.  Chapters: 00:00:00 Meet Oscar and Carolina 00:09:16 Genetic Therapy Solutions for Orphan Diseases 00:14:39 Detecting and Targeting Single Gene Mutations 00:26:52 CRISPR Technology 00:30:08 Equitable Access To Gene/Cell Therapy 00:37:21 How Do We Finance This? 00:46:13 The Ethical Concerns Of Cell/Gene Therapy 00:59:45 Economic Implications of This Technology Key Links for Social: @SelfFunded on YouTube for video versions of the podcast and much more - https://www.youtube.com/@SelfFunded Listen on Spotify - https://open.spotify.com/show/1TjmrMrkIj0qSmlwAIevKA?si=068a389925474f02 Listen on Apple Podcasts - https://podcasts.apple.com/us/podcast/self-funded-with-spencer/id1566182286 Follow Spencer on LinkedIn - https://www.linkedin.com/in/spencer-smith-self-funded/ Follow Spencer on Instagram - https://www.instagram.com/selffundedwithspencer/ Key Words:  Rare Diseases, Gene Therapy, CRISPR technology, CRISPR, Healthcare Skepticism, Healthcare Warranties, Medical Revolution, Healthcare Advances, Orphan Diseases, Cell Therapy, Healthcare Innovation, self funded, podcast #RareDiseases #GeneTherapy #CRISPRtechnology #CRISPR #HealthcareSkepticism #HealthcareWarranties #MedicalRevolution #HealthcareAdvances #OrphanDiseases #CellTherapy #HealthcareInnovation #selffunded #podcast --- Support this podcast: https://podcasters.spotify.com/pod/show/spencer-harlan-smith/support

"It's progress we couldn't have envisioned decades ago." - Oscar “I felt interested in being part of something bigger than my practice and something that will impact even more people that I was able to in the hospital.” - Carolina Dr. Oscar Bronsther and Dr. Carolina Escobar from Interlink joined me this week to discuss the exciting and scary world of cell and gene therapy, CRISPR, and how we fund these amazing medical advances.  In addition to me attempting to act smart enough to be in the same room as these two, we covered their wholistic approach to this emerging scientific field, which promises potential cures for rare and debilitating diseases, but often comes with 7-figure price tags. The rare genetic diseases are known as “orphan diseases”, and there have been some recent incredible advances in detecting them early on in life. We talked about what this all means for individuals as well as the insurance space as a whole, and how it has the potential to increase medical costs in this country even further.  Chapters: 00:00:00 Meet Oscar and Carolina 00:09:16 Genetic Therapy Solutions for Orphan Diseases 00:14:39 Detecting and Targeting Single Gene Mutations 00:26:52 CRISPR Technology 00:30:08 Equitable Access To Gene/Cell Therapy 00:37:21 How Do We Finance This? 00:46:13 The Ethical Concerns Of Cell/Gene Therapy 00:59:45 Economic Implications of This Technology Key Links for Social: @SelfFunded on YouTube for video versions of the podcast and much more - https://www.youtube.com/@SelfFunded Listen on Spotify - https://open.spotify.com/show/1TjmrMrkIj0qSmlwAIevKA?si=068a389925474f02 Listen on Apple Podcasts - https://podcasts.apple.com/us/podcast/self-funded-with-spencer/id1566182286 Follow Spencer on LinkedIn - https://www.linkedin.com/in/spencer-smith-self-funded/ Follow Spencer on Instagram - https://www.instagram.com/selffundedwithspencer/ Key Words:  Rare Diseases, Gene Therapy, CRISPR technology, CRISPR, Healthcare Skepticism, Healthcare Warranties, Medical Revolution, Healthcare Advances, Orphan Diseases, Cell Therapy, Healthcare Innovation, self funded, podcast #RareDiseases #GeneTherapy #CRISPRtechnology #CRISPR #HealthcareSkepticism #HealthcareWarranties #MedicalRevolution #HealthcareAdvances #OrphanDiseases #CellTherapy #HealthcareInnovation #selffunded #podcast --- Support this podcast: https://podcasters.spotify.com/pod/show/spencer-harlan-smith/support

Bei der Immunthrombozytopenie (ITP) handelt es sich um eine seltene, aber klinisch relevante hämatologische Erkrankung. Mit etwa 1.000 erkrankten Personen pro Jahr in Deutschland zählt die erworbene Immunerkrankung zu den Orphan Diseases. Welche Diagnosekriterien werden der ITP zugrunde gelegt? Was bedeutet die Diagnose für die Lebensqualität der Betroffenen? Und wie kann den Patient:innen dauerhaft geholfen werden? Diese und weitere Fragen klärt Dr. med. vet. Astrid Heinl, stellvertretende Chefredakteurin von Journal Onkologie, im Gespräch mit Prof. Dr. med. Axel Matzdorff, Chefarzt der Klinik für Innere Medizin 2 im Asklepios Klinikum Uckermark. Zur Folgen-Übersicht: https://www.medical-tribune.de/o-ton-onkologie?utm_source=Podcatcher&utm_medium=Link&utm_campaign=Shownotes Weiterführende Informationen: • Webseite von Prof. Dr. med. Axel Matzdorff des Asklepios Klinikum Uckermark

The Undiagnosed Diseases Network Foundation ( https://udnf.org/ ) is a patient-led nonprofit organization founded in 2023 committed to improving access to diagnosis, research, and care for all with undiagnosed and ultra-rare diseases, with a focus on fostering collaboration among patients, clinicians, and scientists to enhance the quality of life of undiagnosed and ultra-rare disease patients and their families. Michele Herndon, MSN, RN, is the Program Director of the UDNF's Patient Navigation Program. For the past two decades, she has served as a pediatric nurse, leader, and manager in an academic hospital setting. Michele is also the mother to Mitchell who enrolled in the UDN in 2017 after five years of symptoms. After genetic sequencing and a model organism study using fruit flies, his gene mutation was identified by the UDN. Mitchell died in 2019 from the ultra-rare disease that was ultimately named after him, Mitchell Syndrome. Michele and her family started the Mitchell & Friends Foundation to support families and raise both awareness and money for research into Mitchell Syndrome. Michele lives in St. Louis, MO and is currently working to complete her Doctorate in Nursing Practice at the University of Missouri-Columbia. ​ Dr. F. Sessions Cole, MD is Board Secretary of UDNF and Professor of Pediatrics, Washington University School of Medicine. Dr. Cole is a neonatologist who began studying rare diseases with genomic methods during his fellowship in the laboratory of the late Harvey R. Colten, M.D. and has participated in the discovery of new genetic causes of structural birth defects and of respiratory failure in full-term infants, expanded phenotypes of known genetic diseases, and suggested novel therapeutic strategies. His research has been continuously supported by the National Institutes of Health (NIH) as a Principal Investigator for more than 25 years. Most recently, he led the NIH-funded Undiagnosed Diseases Network (UDN) Clinical Site at Washington University from 2018-2021. He currently co-chairs the UDN's Sustainability Working Group and is leading the UDN's Therapeutic Matching Committee aimed at identifying therapies for rare disease patients. Support the show

Dr Evelyn Kuong is an Associate Professor at the Li Ka Shing Faculty of Medicine (University of Hong Kong) and an Orthopaedic Consultant at the Duchess of Kent Children's Hospital. This episode covers skeletal dysplasias and is of particular interest for those approaching postgraduate examinations and the general orthopaedist who may encounter the occasional patient with a rare condition. We discuss a system of decision making, the role of the MDT and how to approach rare dysplasias. We delve into achondroplasia, pseudoachondroplasia, MED and SED. We then discuss the treatment of short stature in general terms. We finish by discussing Dr Kuong's orthopaedic journey and her perspective on diversity in orthopaedics.

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma and Biotech world. Inizio Biopharma is introducing patient access services called Inizio Engage, which aims to serve specialty patients suffering from rare, orphan, and other specialty diseases. This service supports a fully integrated patient experience from diagnosis through ongoing engagement and support. Patient access services address the complex barriers that patients and healthcare providers encounter, including pre-treatment diagnostics and enrollment, appropriate patient identification, global consent requirements, care coordination support, coverage determination and fulfillment, enrollment and welcome calls, prior authorization, appeals support, co-pay and patient assistance program eligibility, quick start and bridge coordination, specialty pharmacy and distribution triage, site of care and treatment logistics, transportation and lodging support, ongoing patient engagement and support, dose titration education, coping strategies, patient dialogue tools, adherence strategies, monitoring and mitigating adverse events, benefit re-verification and re-enrollment, and navigating re-entering society. All of these services are supported by the award-winning Trak360 platform. Inizio Engage aims to create a comprehensive support program that addresses the complex needs of patients surrounding access and affordability along with administration and adherence for specialty therapies.In other news stories in the medical technology industry: Analysts are skeptical about Medtronic's hypertension treatment facing challenges in reimbursement. Some analysts do not expect approval at all.3M settles combat earplug lawsuits with a $6 billion settlement.Medtronic identifies heart pump failure risk in recalled heartware hvad pump.GE Healthcare introduces software for AFib patients to speed up assessment.Boston Scientific's AFib device matches standard of care based on FARAPULSE trial data.The US signs consent decree on ethylene oxide rule.These news stories cover legal settlements, product recalls, software innovations, and regulatory issues in the medical technology industry.In biopharmaceutical news: Apellis plans to lay off 25% of its staff and scale back research activities.Catalent expands its board of directors as part of a deal with activist investor Elliott.Medicare names the first 10 drugs subject to price negotiations.Superluminal Medicines attracts investment for its drug discovery efforts targeting GPCRs.The FTC pulls back on its legal challenge to Amgen's bid for Horizon, signaling a potential settlement.Biomedevice Boston event is promoted, highlighting the opportunity to join a community of industry professionals, educational aspects, potential partnerships, networking events, and innovation in the medical device industry.The rare disease market has seen significant growth, but smaller biotech companies are struggling due to the market downturn and reduced investment in research and development. Even the oncology space is no longer a safe haven.Glassdoor releases a list of the best places to work in pharma according to employees, highlighting work-life balance. The pharma industry's migraine treatment landscape is explored.The market for cell and gene therapies continues to grow, with the FDA expected to approve up to 12 new treatments in 2023.An upcoming webinar will discuss how AI can aid in drug development, addressing challenges faced by the pharmaceutical research industry and emphasizing the urgency to take advantage of AI now.The Biden administration announces a list of top-selling prescription drugs that will be included in the first round of Medicare price negotiations.That's all for today's news in Pharma and Biotech. Stay tuned for more updates.

Joe Selvaggi talks with Pioneer Institute's senior healthcare fellows Dr. Bill Smith and Dr. Robert Popovian about their white paper "Out-of-Pocket Pirates: Pharmacy Benefit Managers (PBMs) and the Confiscation of Out-of-Pocket Assistance Programs." This episode explores what consumers and regulators can do to ensure those with rare diseases are not left without assistance.

Having focused on endocrine disorders since grad school, first at the bench and later in the board room, Dr. Thierry Abribat founded and became the CEO of EU-based Amolyt Pharma because he wanted to have a “social impact” – he wanted to make a difference. With two clinical stage, biologic assets in hand (and an orphan drug designation) Abribat is hoping to address the serious unmet needs of patients with hypoparathyroidism and acromegaly.

They are not the household names, but the medications they are researching and developing could be the lifeline patients are waiting for. Today we explore how drug price controls—now making their way through Congress—could have unintended consequences for the small biotechs that are the engine of the drug development ecosystem. And even worse, for the patients who need them most.   Guests:Ahmed Mousa, Pieris Pharmaceuticals  Daphne Zohar, PureTech HealthPeter Kolchinsky, RA CapitalMichele Oshman, BIOClare Thorpe, Library Services (AU)

Dr. Gail Ouellette, President and Scientific Director of Regroupement Québécois des Maladies Orphelines (RQMO)/Quebec Coalition of Orphan Diseases and Creator of the “Genetics Simply" website, shares her thoughts on the barriers faced by rare disease patients, how to raise awareness around rare diseases in the medical community, and how COVID-19 has affected the needs of these patients.Schedule a meeting with Natalie Yeadon: https://www.meetwithnatalie.comNatalie Yeadon LinkedIn: https://www.linkedin.com/in/natalieyeadon/Impetus Digital Website: https://www.impetusdigital.com/Impetus Digital LinkedIn: https://www.linkedin.com/company/impetus-digital/Impetus Digital Twitter: https://twitter.com/ImpetusadboardsImpetus YouTube: https://www.youtube.com/ImpetushealthcareDr. Gail Ouellette: https://www.linkedin.com/in/gail-ouellette-b8a52330/Regroupement Québécois des Maladies Orphelines (RQMO): https://rqmo.org/Genetics Simply: https://genetiquesimplement.com/en/accueil-english/

Ibraheem Mahmood has an extensive life science and finance background that spans more than 20 years. His experience includes previous roles in Lifescience M&A and Fundraising at Nomura, Lifescience Equity Research at Investec and Business Development and Corporate Venture Capital at Shire Pharmaceuticals. He was co-founder, President and CEO of the clinical operations services company DrugDev, in which he raised over $50m in financing and he sold the business to IQVIA in 2017. Ibraheem studied medicine at the University of Oxford.

Dr. George Flinn is is a physician, entrepreneur, engineer, inventor and grandfather. George covers today's most challenging topics, helping people make the connection between self worth and success. In a format that's fast-paced, down-to-earth and sure to keep you interested, George Flinn honestly tells you the truth about success so you can change the course of your life -- to have better jobs, health and relationships.

The Launch of NORD Founder, Abbey Meyers' memoir "Orphan Drugs: A Global Crusade"Mark speaks with Abbey Meyers, founder and past President of the National Organization for Rare Disorders (NORD), about the launch of her new book Orphan Drugs: A Global Crusade. Ms. Meyers opens up about the struggles she had in getting a proper diagnosis for her son, who was eventually diagnosed with Tourette’s syndrome, followed by additional struggles to get treatment option that was safe and effective. The talks about her unwavering efforts that ultimately supported the enactment of the groundbreaking “Orphan Drug Act of 1983”Among her many accomplishments, Ms. Meyers served as the consumer representative on the National Commission on Orphan Diseases (1986-89), the NIH Human Gene Therapy Subcommittee, the NIH Recombinant DNA Advisory Committee (RAC), the FDA Biological Response Modifiers Committee, and the HHS National Human Research Protections Advisory Committee. She was also an Honorary President of the European Organization for Rare Disorders (EURORDIS) and currently hold the honorary title of President Emeritus of NORD.Ms. Meyers asserts to Mark, "One day, I wish everyone dealing with the pain and misery of the 7,000 rare disorders will have access to a treatment that will alleviate their symptoms.”

The Launch of NORD Founder, Abbey Meyers' memoir "Orphan Drugs: A Global Crusade" Mark speaks with Abbey Meyers, founder and past President of the National Organization for Rare Disorders (NORD), about the launch of her new book Orphan Drugs: A Global Crusade. Ms. Meyers opens up about the struggles she had in getting a proper diagnosis for her son, who was eventually diagnosed with Tourette’s syndrome, followed by additional struggles to get treatment option that was safe and effective. The talks about her unwavering efforts that ultimately supported the enactment of the groundbreaking “Orphan Drug Act of 1983” Among her many accomplishments, Ms. Meyers served as the consumer representative on the National Commission on Orphan Diseases (1986-89), the NIH Human Gene Therapy Subcommittee, the NIH Recombinant DNA Advisory Committee (RAC), the FDA Biological Response Modifiers Committee, and the HHS National Human Research Protections Advisory Committee. She was also an Honorary President of the European Organization for Rare Disorders (EURORDIS) and currently hold the honorary title of President Emeritus of NORD. Ms. Meyers asserts to Mark, "One day, I wish everyone dealing with the pain and misery of the 7,000 rare disorders will have access to a treatment that will alleviate their symptoms.”

The Launch of NORD Founder, Abbey Meyers' memoir "Orphan Drugs: A Global Crusade" Mark speaks with Abbey Meyers, founder and past President of the National Organization for Rare Disorders (NORD), about the launch of her new book Orphan Drugs: A Global Crusade. Ms. Meyers opens up about the struggles she had in getting a proper diagnosis for her son, who was eventually diagnosed with Tourette’s syndrome, followed by additional struggles to get treatment option that was safe and effective. The talks about her unwavering efforts that ultimately supported the enactment of the groundbreaking “Orphan Drug Act of 1983” Among her many accomplishments, Ms. Meyers served as the consumer representative on the National Commission on Orphan Diseases (1986-89), the NIH Human Gene Therapy Subcommittee, the NIH Recombinant DNA Advisory Committee (RAC), the FDA Biological Response Modifiers Committee, and the HHS National Human Research Protections Advisory Committee. She was also an Honorary President of the European Organization for Rare Disorders (EURORDIS) and currently hold the honorary title of President Emeritus of NORD. Ms. Meyers asserts to Mark, "One day, I wish everyone dealing with the pain and misery of the 7,000 rare disorders will have access to a treatment that will alleviate their symptoms.”

The Launch of NORD Founder, Abbey Meyers' memoir "Orphan Drugs: A Global Crusade"Mark speaks with Abbey Meyers, founder and past President of the National Organization for Rare Disorders (NORD), about the launch of her new book Orphan Drugs: A Global Crusade. Ms. Meyers opens up about the struggles she had in getting a proper diagnosis for her son, who was eventually diagnosed with Tourette’s syndrome, followed by additional struggles to get treatment option that was safe and effective. The talks about her unwavering efforts that ultimately supported the enactment of the groundbreaking “Orphan Drug Act of 1983”Among her many accomplishments, Ms. Meyers served as the consumer representative on the National Commission on Orphan Diseases (1986-89), the NIH Human Gene Therapy Subcommittee, the NIH Recombinant DNA Advisory Committee (RAC), the FDA Biological Response Modifiers Committee, and the HHS National Human Research Protections Advisory Committee. She was also an Honorary President of the European Organization for Rare Disorders (EURORDIS) and currently hold the honorary title of President Emeritus of NORD.Ms. Meyers asserts to Mark, "One day, I wish everyone dealing with the pain and misery of the 7,000 rare disorders will have access to a treatment that will alleviate their symptoms.”

Today’s incredible special guests are Ron Bartek, Co-Founder and President and Jen Farmer Executive Director, coordinator, of FARA /, The Friedreich's Ataxia Research Alliance a national, public, 501(c)(3), non-profit, tax-exempt organization dedicated to curing Friedreich’s ataxia (FA) through research. FARA grants and activities provide support for basic and translational FA research, pharmaceutical/ biotech drug development, clinical trials, and scientific conferences. FARA also serves as a catalyst, between the public and scientific community, to create worldwide exchanges of information that drive medical advances.

Rund vier Millionen Menschen leiden in Deutschland an einer der über 5000 seltenen Erkrankungen. Fast alle Betroffenen haben mit den gleichen Problemen zu kämpfen: langwierige Diagnose, fehlende Therapieoptionen und wenige Informationsmöglichkeiten. Die neue Serie in der DMW befasst sich mit diesen Waisenkindern der Medizin – den „Orphan Diseases“ – und den Problemen der Patienten.

Rund vier Millionen Menschen leiden in Deutschland an einer der über 5000 seltenen Erkrankungen. Fast alle Betroffenen haben mit den gleichen Problemen zu kämpfen: langwierige Diagnose, fehlende Therapieoptionen und wenige Informationsmöglichkeiten. Die neue Serie in der DMW befasst sich mit diesen Waisenkindern der Medizin – den „Orphan Diseases“ – und den Problemen der Patienten.