EP 252: The diagnosis that became a mission to cure rare disease: Advancing genetic medicine using AI with Stevie Ringel of Nome

This week on The Genetics Podcast, Patrick is joined by Stevie Ringel, co-founder of Nome and founder of the Kizuna Foundation. They discuss Stevie's own ultra-rare disease diagnosis and shaped his path to founding Kizuna Foundation and Nome, how Nome's AI agents help scientists navigate the operational complexity of small-batch drug development, the technical and business model advantages underpinning Nome's accuracy, and what it will take to build a sustainable funding model for ultra-rare disease.Show Notes0:00 Intro to The Genetics Podcast00:59 Welcome to Stevie01:37 Stevie's inherited retinal disease (IRD) diagnosis and subsequent path into genomics03:16 Why Stevie founded Kizuna Foundation and why ultra-rare drug development is so operationally complex06:27 The origin story of Nome and using AI to automate the operational work 10:09 The inspiration for the name “Nome” and who the company is built to serve12:44 The biggest blockers to program speed15:07 How AI and scale can bring down the cost of gene therapy manufacturing18:01 FDA signals and global regulatory competition 19:33 Priority review vouchers and why Nome stays out of molecule IP20:33 Nome's AI and review process for patient reports and its expansion to health systems25:04 Nome's agent architecture and the data behind its accuracy28:17 Why delivery remains gene therapy's biggest bottleneck and approaches for solving it31:34 The case for a new capital model in rare disease drug development 33:25 What’s next for Nome as they advance preclinical programs34:25 Nome’s focus on process excellence across therapeutic modalities36:34 Closing remarksFind out more: Nome