Professor, Biochemistry and Molecular Genetics
- PhD, North Carolina State University
Genome instability in human disease
Our research focus is to understand the structure and function of unusual DNA sequences in living cells, and how these sequences cause genome instability and lead to human diseases. Human chromosomal fragile sites have been correlated with the chromosomal deletions and gene rearrangements found in many cancers.
Our studies are aimed at understanding the genesis of breakpoints that occur at or near fragile sites during oncogenesis. Ongoing projects include examining the chromatin structure of cancer-specific fragile sites, and their involvement in DNA replication/cell cycle checkpoints, and investigating the mechanism of RET/PTC rearrangement. We are also interested in the nature of trinucleotide repeat expansion diseases, in which an expanded trinucleotide repeat block is present in a gene for which loss or alteration leads to the disease. Our effort is to examine the role of chromatin structure in the pathology of these diseases, and to investigate the role of DNA structure in the mechanism of the repeat expansion.
Trainees in my laboratory will gain knowledge about chromatin biology, DNA repair, and cancer-causing gene rearrangements, and will develop expertise in cell culture, molecular biology techniques for proteins and nucleic acids, cytogenetic analysis, and electron microscopy.