Project Grant R00LM014429

This Project Grant awarded by the National Institute of Environmental Health Sciences (NIEHS) under the Medical Library Assistance (CFDA 93.879) federal grant program provides $249,000.00 in funding from August 1, 2025 to July 31, 2028 to Vanderbilt University Medical Center (VUMC).

The grant supports the development and implementation of advanced statistical machine learning methods to shorten the diagnostic and therapeutic "odysseys" faced by patients with rare diseases. Key objectives include: 1) Developing a novel natural language processing (NLP) system to identify, standardize, and prioritize rare disease phenotypes to support timely diagnosis, 2) Implementing the NLP system at the Vanderbilt Undiagnosed Diseases Network site to improve diagnostic capabilities, and 3) Leveraging multi-omic data to build a causal inference framework using modern statistical machine learning techniques to elucidate the complex interactions between phenome, genome, and exposome that underlie rare diseases on an individual level.

This project aims to create an open-source NLP system, an implementation framework using REDCap, and an advanced causal inference framework to accelerate rare disease diagnosis and inform personalized disease management strategies.