The Profcast - rare diseases and their therapies

In the first episode of our second profcast series, Prof Dr Matthias P. Schönermark talks with Prof Dr med Annette Grüters-Kieslich, chairwoman of the Eva Luise and Horst Köhler foundation. They talk about the challenges and successes in the diagnosis and treatment of rare diseases as well as the importance of networks and research. Our guest particularly vividly explains the decades of therapy development using the example of rare congenital metabolic diseases. You can find Profcast From genes to therapies - Decades of commitment to rare diseases on Spotify and Apple Podcast (in German language only). Tune in!

The largest World Orphan Drug Congress to date took place in Barcelona at the beginning of November. Prof. Dr. Matthias P. Schönermark reports on the ever-present topics affordability and gene therapies. He interviewed Matthias Heck, senior director of global government affairs at Alexion Pharmaceuticals, Sheela Upadhyayafrom Fipra and Dr. Nick Sireau, founder of the AKU Society, about the EU pharmaceutical package, the unmet medical need and the influence that patient organizations can make. You can find Profcast #16 WODC 2023 - News from the annual class reunion of the orphan drug scene on Spotify and Apple Podcast (in German language only). Tune in!

In this episode of the Profcast, Prof. Matthias P. Schönermark talks with Dr. Harald Enzmann, head of "European Union and International Affairs" at the German Federal Institute for Drugs and Medical Devices (BfArM) and chair of the Committee for Medicinal Products for Human Use (CHMP) at the European Medicines Agency (EMA). They discuss the role of the BfArM as an interface between the national and European regulatory system, the central authorisation of innovative orphan drugs as well as the benefit risk assessment for ATMPs and debate which harmonisation and changes the EU-wide Joint Clinical Assessment (JCA) and the EU Pharma Legislation might cause. You can find Profcast #15 Drug authorisation for orphan drugs - A glimpse behind the scenes of BfArM and CHMP on Spotify and Apple Podcast (in German language only). Tune in!

In the Profcast "Rare diseases and their therapies" he discusses the latest developments of the European health technology assessments (EU-HTA), the influence of the German authorities and the upcoming innovations of the "EU Pharmaceutical Package" for manufacturers of orphan drugs with his host Prof. Dr. Matthias P. Schönermark. You can find Profcast #14 Update from Brussels – between EU-HTA and Pharma Package on Spotify and Apple Podcast (in German language only). Tune in!

Prof. Dr. Georg Marckmann holds the chair of ethics, history and theory of medicine at the Ludwig-Maximilians-University in Munich and is member of the board of the academy for ethics in medicine. In the Profcast "Rare diseases and their therapies" he talks with Prof. Dr. Matthias P. Schönermark about equitable access to healthcare for everyone, the dilemma of ethically appropriate evidence, the future of individualized therapies and new study formats, as well as the cost-benefit assessments of orphan drugs. You can find Profcast #13 In search of justice - medical ethics for orphan drugs on Spotify und Apple Podcast (in German language only). Tune in!

Professor Burkhard Sträter is an attorney for pharmaceutical and medical law at the renowned law firm "Sträter Rechtsanwälte" and co-founder of the master's program in regulatory affairs. In our podcast series "The Profcast - rare diseases and their therapies" he talks with Prof. Matthias P. Schönermark about the legal privileging of orphan drugs and the effects of the Act on the Stabilization of Finances in Statutory Health Insurance (GKV-Finanzstabilisierungsgesetz) for these, the explosive power of the German Federal Social Court (BSG) ruling for therapeutic soloists, the approaching EU HTA procedure, and the usefulness of routine practice data collection.You can find Profcast #12 Privileges and paper tigers on Spotify und Apple Podcast (in German language only). Listen now!

In March, two congresses focused on orphan medicine: the Advanced Therapies Congress in London and the World Evidence, Pricing and Access Congress in Amsterdam. Dr. Lydia Frick, market access manager of SKC, and Prof. Matthias P. Schönermark M.D., Ph.D. present the top topics of these congresses, such as cost-effectiveness analyses, innovative contract models and affordability. They highlight the observed uncertainty in the industry caused by political processes, such as the harmonization of benefit assessment through EU-HTA, and the demand for a change of mentality in the HTA process. You can find Profcast #11 Advanced Therapies and World EPA Congress 2023 - a retrospective in German language on Spotify und Apple Podcast. Listen now!

Stanislav Ostapenko is Senior Communications Manager at the European Organization for Rare Diseases (Eurordis), which coordinates the Rare Disease Day across Europe. In our podcast series "The Profcast - rare diseases and their therapies", he talks with Prof. Dr. Matthias P. Schönermark about the intention and impact of the Rare Disease Day and further appealing campaigns raising awareness about rare diseases. You can find Profcast #10 #ShareYourColours at Rare Disease Day on Spotify und Apple Podcast. Listen now!

Han Steutel is president of the German association of research-based pharmaceutical companies (Verband Forschender Arzneimittelhersteller e.V., vfa), representing more than two-thirds of the entire German pharmaceutical market. He talks with Prof. Matthias P. Schönermark about the effects of the German Act to Stabilize the Finances of Statutory Health Insurance (GKV-FinStG) on orphan drugs and German pharmaceutical research, as well as the positive successes and prospects of gene therapies and other ATMPs (advanced therapeutic medicinal products). You can find Profcast #09 Research is the best medicine on Spotify und Apple Podcast (in German language only). Listen now!

„Strategy, advocacy and partnering for the orphan drug industry" – this was the slogan of the World Orphan Drug Congress Europe, which was held from November 14^th to 17^th, 2022. In our podcast series "Profcast - rare diseases and their therapies", Prof. Matthias P. Schönermark M.D., Ph.D. reports on the three dominant topics incentive systems, harmonization of European HTA processes, and affordability. He also conducts live interviews with Matthias Heck, director of global government affairs at Alexion Pharmaceuticals, and Adam Plich, founder and CEO of Avanzanite Bioscience. You can find Profcast #08 What motivates the World Orphan Drug Congress Europe 2022? in German language on Spotify and Apple Podcast. Listen in now!

Rebekka Drägerdt is a pediatric nurse and outreach nurse at the children's and youth hospital AUF DER BULT in Hannover. In our podcast series Profcast "Rare diseases and their therapies", she explains why her profession is a rather rare one and discusses with Prof. Matthias P. Schönermark, M.D., Ph.D. how she supports the complex care of children with the rare skin diseases epidermolysis bullosa and congenital ichthyosis. You can find Profcast #07 Outreach Nurse - a profession far too rare on Spotify and Apple Podcast (in German language only). Listen now!

Dr. Jama Nateqi is founder and CEO of Symptoma, the world's largest symptom checker. Symptoma's artificial intelligence (AI) is designed to fulfill the vision of providing the right diagnosis and treatment for every patient. Prof. Matthias P. Schönermark talks to him about accuracy, diagnostics, real world data and the AI algorithm in our Profcast. You can find Profcast #06 Rapid diagnosis through artificial intelligence on Spotify and Apple Podcast (in German language only). Listen now!

Both founders of the Rare Revolution Magazine, Rebecca Stewart (CEO) and Nicola Miller (editor-in-chief), are the guests of the fifth profcast edition "the rare revolution rolls". Their magazine is the most important periodical for the rare disease community. Prof. Matthias P. Schönermark, M.D., Ph.D. discusses with the two co-founders their motivation and goals, their (often personal) challenges when writing stories of rare diseases and the value of the rare youth revolution. You can find the Profcast #05 The rare revolution rolls - this time in Englisch language - on Spotify and Apple Podcast. Listen now!

Prof. Dr. Helge Hebestreit is deputy clinical director of the University Hospital Würzburg and head of the Center for Rare Diseases (ZESE), Reference Center Northern Bavaria in Würzburg. In podcast episode #04 Centers - big impact, small funding, he discusses with Prof. Schönermark the Bavarian, German and European organization and funding of centers for rare diseases and the benefits they create for patients and their families, especially in the context of case conferences and clinical trials. You can find the Profcast #04 Centers - big impact, small funding in German language on Spotify and Apple Podcast. Listen now!

Dr. Christine Mundlos is vice executive director of the German Alliance of Chronic Rare Diseases ( Allianz Chronischer Seltener Erkrankungen, ACHSE e.V.) and acts as the voice for patients with rare diseases in the umbrella organization of more than 130 patient self-help organizations. In podcast episode #03 The voice of rare disease patients, she discusses with Prof. Schönermark how ACHSE enables patients to help themselves, how physicians can receive rare disease consultations at ACHSE, how Germany can learn from Europe, and how a structured patient pathway and artificial intelligence will improve the future of rare diseases. You can find Profcast #03 The voice of rare disease patients in German language on Spotify and Apple Podcast. Listen now!

Dr. Kai Joachimsen, chief executive officer of the German Pharmaceutical Industry Association, is the second guest in our SKC-podcast "Der Profcast - rare diseases and their therapies". In podcast episode #02 Orphan Drugs - more than a cost factor, Prof. Dr. Matthias P. Schönermark, and Dr. Kai Joachimsen shed light on the measures initiated to advance the development of orphan drugs over the last 20 years, the changes that the current political discussion could involve, and how the future of orphans is shaping up, especially in light of digitalization. You can find the Profcast #02 Orphan Drugs – mehr als ein Kostenfaktor in German language on Spotify and Apple Podcast. Listen now!

In the first edition of our SKC podcast, Prof. Dr. Hagen Pfundner, CEO of Roche Pharma AG, is our guest. Prof. Matthias P. Schönermark, M.D., Ph.D. and he speak about scientific and technological leaps in rare diseases, unusual paths of orphan drugs at the pharmaceutical giant Roche, why orphanization is a dirty word and which potentials molecular genetic diagnostics hold. You can find the SKC podcast Profcast #01 Geniale Mutausbrüche in German language on Spotify and Apple Podcast. Listen now!