{"podcast":{"title":"Advances in Care","slug":"advances-in-care-6039100","podcast_index_feed_id":6039100,"rss_url":"https://feeds.simplecast.com/TZu4B0z0","website_url":"https://advances-in-care.simplecast.com","image_url":"https://image.simplecastcdn.com/images/28227570-5d93-44b2-858d-45c721fe98dd/cd346cd3-6c1f-4dca-bfad-555d89b80e6c/3000x3000/nypreputationpodcastheroimage1400x1400042226_2.jpg?aid=rss_feed","author":"NewYork-Presbyterian","episode_count":65,"summary":"On Advances in Care, epidemiologist and science communicator Erin Welsh sits down with physicians from NewYork-Presbyterian hospital to discuss the details behind cutting-edge research and innovative treatments that are changing the course of medicine. From breakthroughs in genome sequencing to the backstories on life-saving cardiac procedures, the work of these doctors from Columbia & Weill Cornell Medicine is united by a collective mission to shape the future of health care and transform the lives of their patients. Erin Welsh, who also hosts This Podcast Will Kill You, gets to the heart of her guests’ most challenging and inventive medical discoveries. Advances in Care is a show for health careprofessionals and listeners who want to stay at the forefront of the latest medical innovations and research. Tune in to learn more about some of medicine’s greatest leaps forward. For more information visit nyp.org/Advances","last_synced_at":"2026-09-03T18:18:15.177380+00:00","page_url":"https://stenobird.com/podcast/advances-in-care-6039100"},"episode":{"title":"GUARDIAN Screening Panel Expands Early Detection for Rare and Treatable Diseases","slug":"guardian-screening-panel-expands-early-detection-for-rare-and-treatable-diseases","published_at":"2026-08-06T09:00:00+00:00","page_url":"https://stenobird.com/podcast/advances-in-care-6039100/guardian-screening-panel-expands-early-detection-for-rare-and-treatable-diseases","show_page_url":"https://stenobird.com/podcast/advances-in-care-6039100","url":"https://advances-in-care.simplecast.com/episodes/guardian-screening-panel-expands-early-detection-for-rare-and-treatable-diseases-JrcIBPO_","audio_url":"https://p.podderapp.com/1440337256/cdn.simplecast.com/media/audio/transcoded/20f5dff1-c9dc-44ab-8b84-fc16c4ca51b2/cc9697ff-ec07-4499-8331-0e85c7cccb15/episodes/audio/group/6fb1da9f-9ee1-4298-b6ca-3730bc711aa2/group-item/5f783229-3566-4c7f-9725-4c94fa3066b3/128_default_tc.mp3?aid=rss_feed&feed=TZu4B0z0","summary":"On this episode of Advances in Care, host Erin Welsh revisits the story behind the GUARDIAN study, which screens thousands of newborn babies against rare disease by sequencing their genes, and looking for more conditions than any of the current standard screening panels. First, she hears from Dr. Jordan Orange, former physician-in-chief at Morgan Stanley Children’s Hospital at NewYork-Presbyterian and Columbia, about why genetic testing is a promising way of not only catching treatable rare diseases in infants, but also expanding health equity and medical resources to marginalized populations. Erin also hears from Dr. Joshua Milner, a pediatric immunologist who treated a patient with a rare form of SCID, or severe combined immune deficiency, also known as bubble boy disease that was detected in the GUARDIAN screening panel. SCID is a disease that typically occurs in 1 of 50,000 babies but GUARDIAN caught two cases within the first 10,000 babies involved in the program, indicating that the incidence of the disease might be higher than expected, and that the most accurate way to detect is through genetic screening. Dr. Steven Lobritto, a pediatric gastroenterologist, also weighs in on how genetic screening can help identify Wilson’s disease, a copper storage disorder that causes liver damage when left unchecked. And Dr. Eric Silver, a pediatric electrophysiologist, discusses how the program detected a heart rhythm disorder called Long QT Syndrome for both a newborn baby and their father. Finally, Erin gets the big-picture takeaways from Dr. Orange, who reflects on what the results of GUARDIAN could mean for the future of newborn screening and health policy, and how he hopes to see genetic testing expand research and treatment of rare diseases. Since recording this episod…","meta_description":"On this episode of Advances in Care, host Erin Welsh revisits the story behind the GUARDIAN study, which screens thousands of newborn babies against rare…","key_points":[],"chapters":[],"topics":[],"duration_seconds":1428,"processing_state":"not_requested","actions":[{"name":"request_transcript","method":"POST","url":"https://stenobird.com/v1/public/podcasts/advances-in-care-6039100/episodes/guardian-screening-panel-expands-early-detection-for-rare-and-treatable-diseases/transcription-requests","description":"Idempotently request low-priority transcript generation for this episode."},{"name":"read_markdown","method":"GET","url":"https://stenobird.com/podcast/advances-in-care-6039100/guardian-screening-panel-expands-early-detection-for-rare-and-treatable-diseases.md","description":"Read the agent-friendly Markdown representation of this episode resource."}]}}