Saurabh Kulkarni, PhD

Saurabh Kulkarni, PhD

I am an experimental human geneticist working on the mechanisms of rare disease genes and variants. I lead an NIH-funded laboratory that resolves variants of uncertain significance from patients through functional testing, using high-throughput in vivo CRISPR screening paired with human cell models. This work has established three new congenital heart disease and ciliopathy genes, defined the allelic mechanisms, and produced a variant classification platform. I also benchmark AI-based variant predictors against my functional data to define where they fail. My program spans ciliopathies, congenital heart disease, heterotaxy, and primary ciliary dyskinesia.