Matteo Ruggiu, Ph.D.

Dr Ruggiu's lab studies how neurons use alternative splicing—a process that allows a single gene to produce many different proteins—to achieve their unique functions. Although humans and simpler organisms like worms and flies have a similar number of genes, the diversity and complexity of the human nervous system arise in large part not from how many genes there are but, rather, from how these genes are regulated. Alternative splicing is one of the key ways cells—especially neurons—control gene expression throughout development, differentiate into specific neuronal cell types, and respond to changes in their environment.

Neurons show some of the highest levels of alternative splicing in the body. Errors in this process are linked to a wide range of neurological diseases. We focus on RNA-binding proteins, which guide splicing decisions by interacting with specific RNA sequences. Our goal is to understand how these protein-RNA interactions shape neuronal identity and function, and how their disruption contributes to disease.

By mapping the regulatory networks that control RNA processing in the brain, we hope to uncover new therapeutic targets and improve our understanding of the molecular underpinnings of nervous system disorders.

Our research is supported by the National Institutes of Health.