Congratulations to Atul Butte and Madhumita Sushil on their recent grant award from the Chan Zuckerberg Initiative (Science in Society initiative).
The research will be on "Applying AI/LLMs to Characterize Rare Diseases and Address Diagnostic Challenges." The goal is to build LLM-based methodology to automatically identify and characterize rare disease patient cohorts from the UC-wide deidentified patient database of 8+ million patients, and reduce the diagnostic odyssey for rare diseases. The team plans to build generalizable strategies, but initiating a proof of concept with two diseases that UCSF is a center of excellence for: Hereditary Hemorrhagic Telangiectasia and cerebral cavernous malformations. They will also engage with patient foundations for both diseases to incorporate their views and disseminate findings back to them. Learn more here