IPRD funded research by Cesar Rodriguez
Rare disease AI knowledge hub: Limited awareness of pediatric rare diseases among healthcare professionals impedes access to care, contributing to delayed diagnoses and suboptimal outcomes. This research project addresses this problem by creating an AI knowledge base for rare diseases that can interact with the users in a conversational manner. A software system that uses a state-of-the-art large language model (OpenAI's Generative Pre-Trained Transformer, GPT) using retrieval-augmented generation (RAG) will be developed. Initially, the interface will be trained to provide dynamic and relevant information about Tay-Sachs disease, trimethylaminuria, and fragile X syndrome.