Research

One gene can lead to the production of many different RNA isoforms via mechanisms such as alternative promoter usage, splicing, and polyadenylation. The functional significance of many of these isoforms, their impact on cell physiology, and their regulation remain mostly controversial. Understanding the functional consequences of transcript heterogeneity will improve our understanding of gene expression regulation, broadening our ability to intervene when mutations that interfere with this regulation cause human disease.

The Briganti lab focuses on better understanding human tissue-specific post-transcriptional regulation of gene expression and developing mechanism-based therapeutics. The general strategy is to study the function of regulatory genes and their deregulation in human disease. The specific approach is to understand the molecular mechanisms by which disease-causing mutations alter the gene function and lead to human disease. The hypothesis is that a detailed understanding of the relationship between the gene's molecular function and the disease mechanism will allow the development of first-in-class, personalized therapeutic strategies that target the disease mechanisms rather than manage symptoms independently of disease etiology.