Rare Horizons, a new podcast focused on rare disease research
Education stands as a key pillar of Share4Rare. Thus, we are constantly working to provide the rare disease community with tools and resources to better understand the various research dimensions of these disorders. To achieve this goal, we have launched a monthly podcast, generously supported by the Weber Foundation, which aims to explore diverse topics relevant to rare disease research and innovation.
Named Rare Horizons, the podcast will delve into critical issues such as the diagnostic process, the importance of biobanks and registries in the investigation of rare disorders, advancements in animal models, and the latest breakthroughs in gene therapy. Each episode will offer insights drawn from the experiences of patients, caregivers, and experts spanning different research fields, highlighting the ongoing progress in rare disease research and its potential implications for enhancing the quality of life within this 300-million-person community.
Obtaining a diagnosis, a key issue for rare disease patients
In our podcast's debut episode, we're diving into the critical importance of getting an early and accurate diagnosis. This issue is not just crucial for patients and families, but also for healthcare professionals. Yolanda Scott will be sharing her daughter's journey, who was diagnosed with a congenital disorder of glycosylation at just eight months old. We will also chat with Dr David Fajgenbaum, a medical doctor and Associate Professor at the University of Pennsylvania, who battles Castleman disease himself. With his dual perspective as a patient and an expert, Dr Fajgenbaum will recount his own experience with a disease that nearly took his life. And let's not forget Dr Antonio Martínez Monseny, a Paediatric Geneticist at Sant Joan de Déu Barcelona Children’s Hospital, who will shed light on the diagnostic process and discuss different initiatives aimed at enhancing it. Join us as we explore these crucial topics!
You can now listen to the episode on Spotify, Acast, Apple podcast and Deezer.
Rare Horizons is an initiative by Share4Rare and the Weber Foundation. Follow our channels to stay updated on new episodes.
