CZI Grant Award for Improving Rare Disease Research

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