Biomarkers and Beyond: Integrating AI in Rare Disease Management by CheckRare Staff| Updated on: Apr 18, 2026

https://checkrare.com/biomarkers-and-beyond-integrating-ai-in-rare-disease-management/ Stacey Kallish, MD, Clinical Geneticist at Penn Medicine in Philadelphia, is helping to lead a new wave of innovation at the intersection of artificial intelligence (AI) and rare disease care. With a clinical focus on lysosomal storage diseases (LSDs)—including Fabry disease, Gaucher disease, and Pompe disease—Dr. Kallish is exploring how emerging technologies can improve diagnosis, risk prediction, and long-term management for patients with complex genetic conditions.