Navigating Genetic Complexities

This chapter explores the detailed process of analyzing complex genetic cases and the identification of pathogenic variants through genomic testing. It highlights the importance of evolving technologies and reanalysis, illuminated by a compelling case of a family affected by myopathy, emphasizing the emotional journey and insights gained from genetic testing. The discussion also addresses the interplay between structured genetic data and unstructured patient symptoms, underlining the critical role of ontologies in understanding rare diseases.

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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