Our Research
Original research in AI assistance for diagnosis and management of rare and genetic disease.
JAMIABalu Bhasuran et al.Reducing diagnostic delays in acute hepatic porphyria using health records data and machine learning
Acute hepatic porphyria (AHP) is a group of rare but treatable conditions associated with diagnostic delays of ~15 years. We trained and characterized models for identifying patients with AHP using EHR data and ML under typical real-world constraints.
Real-World Evidence LabBalu Bhasuran et al.AHP Prediction
Models using EHR data from two centers to predict (1) who will be referred for AHP testing and (2) who will test positive. Best models reached 89–93% accuracy; 71% recognized earlier than true diagnosis, reducing delay by ~1.2 years.
zebraMDJulie McMurry et al.Critical Bottlenecks in Rare Disease Research and Care: A Community Perspective
White paper surgido de una reunión comunitaria tras la cancelación de un proposers’ day de ARPA-H (RAPID). Sintetiza perspectivas de clínicos, academia, industria, registros y pacientes sobre cuellos de botella críticos en enfermedades raras.