Enabling AI for Rare Disease Patients

Joshua Resnikoff - TMA Precision

We’re joined by Joshua, CEO of TMA Precision Health, to explore their groundbreaking work in shortening the “diagnostic odyssey” for rare disease patients through tech-enabled solutions and AI-driven insights. By combining precision medicine with scalable technology, TMA is giving families faster answers and opening pathways to treatments that were once out of reach.

TMA Precision Health is transforming rare disease care by reducing the diagnostic timeline from an average of seven years to just a few months, tackling the systemic gaps in accessibility and healthcare equity. Joshua shares his journey from research at Harvard to founding TMA, as well as his deeply personal connection to rare disease through his son’s experience. He explains how TMA’s platform integrates whole genome sequencing, precision medicine, and AI analytics to build a patient-centric model that empowers providers and families alike. We also discuss how TMA works with health systems and governments to scale solutions globally, ensuring that innovation isn’t confined to well-resourced settings.

Timestamps:
00:00 – Podcast and guest introduction
00:30 – Joshua’s background in research and entrepreneurship
02:10 – From Harvard research to founding TMA Precision Health
05:25 – Personal connection to rare disease and the diagnostic odyssey
10:15 – TMA’s mission to democratize healthcare for underserved populations
14:50 – How TMA combines AI, whole genome sequencing, and patient outreach
19:30 – Overcoming barriers in rare disease care through payer partnerships
27:00 – Scaling innovation to reduce healthcare fragmentation
30:45 – TMA’s long-term vision: expanding to other genetic conditions and advancing healthcare delivery