Andrew B. Stergachis, M.D., Ph.D.

Research

The Stergachis lab explores gene regulation and chromatin features in previously “uncharted” regions of the human genome. The human genome contains specialized DNA sequences—such as centromeres, telomeres, and segmental duplications—that are essential for maintaining the survival of the genome and that play a role in aging and various human diseases, such as cancer and neurodegenerative disorders. However, these sequences are often highly repetitive, making them challenging for geneticists to study using traditional methods. The Stergachis lab has developed single-molecule chromatin fiber sequencing methods to accurately delineate the structure of both DNA and chromatin within these highly repetitive regions. Now, applying this approach to developmental and human biology, my lab aims to unravel the structure and function of chromatin and gene regulatory features within these uncharted regions. Overall, our goal is to improve the diagnosis and treatment of human diseases caused by alterations in these regions of the human genome, which are some of the fastest-evolving genomic sequences.