Welcome to the Lorenzo Lab

The long-standing interest of our group is to understand how membrane and cytoskeleton adaptors modulate cellular processes to maintain homeostasis and how their dysregulation leads to disease. We are particularly interested in the role of these adaptors in brain development and bioenergetic regulation. Our research sits at the interface of human genetics, animal physiology, cell biology, and biochemistry. We use mouse, fly, and differentiated human iPSC models to decode the cellular and molecular mechanisms of protein adaptors in normal states and how they are functionally disrupted by pathogenic human variants. Our goal is to translate genetic information into pathophysiologic mechanisms that inform diagnosis and therapeutic approaches.

Some of the techniques routinely used by our team include live and high-resolution microscopy, biochemistry, cellular assays, and proteomics, combined with advanced molecular methods, multiple imaging and behavioral modalities, and gene profiling in animal models of disease.