AI and the Fight Against Rare Diseases

This chapter explores the transformative role of artificial intelligence in identifying and researching rare diseases, highlighting advancements in genetic sequencing. It discusses the challenges faced by specialists in navigating a vast amount of medical knowledge and how AI serves as a crucial tool in diagnostics. The dialogue emphasizes the patient journey through the medical system and showcases the collaborative efforts of clinicians and researchers in solving genetic mysteries.

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Nathan explores the cutting-edge intersection of AI and rare disease research with Dr. Catherine Brownstein of Boston Children's Hospital and Harvard Medical School. In this episode of The Cognitive Revolution, we dive into how frontier AI models are revolutionizing the diagnosis of rare diseases. Join us for an insightful conversation with a ChatGPT Pro grant winner who's pioneering the use of AI to help patients find answers faster.

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CHAPTERS:

(00:00:00) Teaser

(00:00:56) About the Episode

(00:04:45) Rare Diseases Common

(00:06:48) Patient Journey

(00:12:57) Genome Sequencing

(00:19:39) Sponsors: Oracle Cloud Infrastructure (OCI) | NetSuite

(00:22:19) Diagnosis Process

(00:30:50) Data Pipelines

(00:35:51) Sponsors: Shopify | Vanta

(00:39:07) Interaction Graphs

(00:42:18) Data Accessibility