{"podcast":{"title":"Behind the Genes","slug":"behind-the-genes-3509739","podcast_index_feed_id":3509739,"rss_url":"https://feed.podbean.com/genomicsengland/feed.xml","website_url":"https://genomicsengland.podbean.com","image_url":"https://pbcdn1.podbean.com/imglogo/image-logo/10639619/CopyofBehindtheGenestemplates_g5qetz.png","author":"Genomics England","episode_count":100,"summary":"At Genomics England, our vision is a world where everyone benefits from genomic healthcare. From the latest research to the lived experiences of those affected by rare conditions and cancer, Behind the Genes brings you closer to the people behind the science. Each month, we release a deep-dive episode, alongside our Genomics 101 series - short explainers designed to make complex terms in genetics and genomics easier to understand.","last_synced_at":null,"page_url":"https://stenobird.com/podcast/behind-the-genes-3509739"},"episode":{"title":"Can patient collaboration shape the future of therapies for rare conditions?","slug":"can-patient-collaboration-shape-the-future-of-therapies-for-rare-conditions","published_at":"2025-02-26T08:00:00+00:00","page_url":"https://stenobird.com/podcast/behind-the-genes-3509739/can-patient-collaboration-shape-the-future-of-therapies-for-rare-conditions","show_page_url":"https://stenobird.com/podcast/behind-the-genes-3509739","url":"https://genomicsengland.podbean.com/e/can-patient-collaboration-shape-the-future-of-therapies-for-rare-conditions/","audio_url":"https://mcdn.podbean.com/mf/web/mwr9n3kxqkimw93n/Behind_the_Genes_015_Can_patient-led_collaboration_shape_the_future_of_rare_condition_research.mp3","summary":"Rare condition research is evolving, and patient communities are driving the breakthrough. In this special Rare Disease Day episode, we explore the challenges and opportunities shaping the future of rare condition therapies. From groundbreaking gene therapy trials to the power of patient-driven research, our guests discuss how collaboration between families, clinicians, researchers, and regulators is paving the way for faster diagnoses, equitable access to treatments, and innovative approaches like nucleic acid therapies and CRISPR gene editing. With insights from Myotubular Trust, we follow the journey of family-led patient communities and their impact on advancing gene therapy for myotubular myopathy - showcasing how lived experience is shaping the future of medicine. However, while patient-driven initiatives have led to incredible progress, not every family has the time, resources, or networks to lead these research efforts. Our guests discuss initiatives like the UK Platform for Nucleic Acid Therapies (UPNAT), which aims to streamline the development of innovative treatments and ensure equitable access for everyone impacted by rare conditions. Our host Dr Ana Lisa Tavares, Clinical lead for rare disease at Genomics England, is joined by Meriel McEntagart, Clinical lead for rare disease technologies at Genomics England, Anne Lennox, Founder and CEO of Myotubular Trust and Dr Carlo Rinaldi, Professor of Molecular and Translational Neuroscience at University of Oxford. \"My dream is in 5 to 10 years time, an individual with a rare disease is identified in the clinic, perhaps even before symptoms have manifested. And at that exact time, the day of the diagnosis becomes also a day of hope, in a way, where immediately the researcher that sent the genetics lab flags that s…","meta_description":"Rare condition research is evolving, and patient communities are driving the breakthrough. In this special Rare Disease Day episode, we explore the challe…","key_points":[],"chapters":[],"topics":[],"duration_seconds":2768,"processing_state":"not_requested","actions":[{"name":"request_transcript","method":"POST","url":"https://stenobird.com/v1/public/podcasts/behind-the-genes-3509739/episodes/can-patient-collaboration-shape-the-future-of-therapies-for-rare-conditions/transcription-requests","description":"Idempotently request low-priority transcript generation for this episode."},{"name":"read_markdown","method":"GET","url":"https://stenobird.com/podcast/behind-the-genes-3509739/can-patient-collaboration-shape-the-future-of-therapies-for-rare-conditions.md","description":"Read the agent-friendly Markdown representation of this episode resource."}]}}