OVERALL RESEARCH FOCUS

Our research program centers on two key areas:

Short Tandem Repeats (STRs): STRs are a significant yet often underexplored component of the human genome, playing an essential role in gene expression and regulation. These repetitive sequences make up more than one-third of our DNA. While past research has largely concentrated on the pathological consequences of STR expansions in various genetic disorders, recent findings suggest that STRs also have critical native functions, particularly in gene regulation. Interestingly, most STRs in the genome are located outside of genes, and their relationship to disease is not fully understood. In contrast, disease-associated STR tracts are typically found within gene bodies (exons, introns, or untranslated regions). Pathogenic-length expansions of these STRs are linked to widespread biological disturbances, including altered histone modifications, DNA methylation patterns, and changes to genome architecture.

Epigenetic Regulation: Epigenetic mechanisms, such as DNA methylation and histone modifications, play crucial roles in mammalian development and are implicated in a variety of human diseases. It has been suggested that epigenetic changes serve as intermediaries, encoding dynamic environmental experiences into the fixed genome and leading to stable changes in phenotype. RNA molecules, an integral part of chromosomal structure, contribute to gene regulation through multiple mechanisms.

Our long-term objective is to combine various disciplines (genetics, biochemistry, chemistry, human genetics/genomics, and bioinformatics) to understand the roles of dynamic repeats and epigenetics in human diseases, particularly neurodevelopmental and neurodegenerative disorders.