Tandem repeat diseases

Tandem repeat (TR) DNA sequences, once dismissed as “junk DNA,” have emerged as critical players in human health and disease. Our research program is at the forefront of deciphering the functional significance of TRs in the human genome and their role in neurological and neurodegenerative disorders. By integrating molecular molecular biology, genome biology, and chemical biology, we seek to unravel the mechanisms by which TR expansions disrupt cellular homeostasis and cause diseases such as Huntington disease, Fragile X Syndrome, and Friedreich ataxia. Our ultimate goal is to translate these fundamental insights into novel therapeutic strategies that directly target the root cause of these devastating disorders and offer hope for patients and families affected by tandem repeat diseases (see Drug Discovery).