Welcome to the Kupfer lab at The University of Virginia
Our lab works on the relationship of genomic instability and the propensity towards development of cancer. Specifically, we focus on the genetic syndrome Fanconi anemia (FA). FA serves as a paradigm where the disciplines of development, genetics, and molecular oncology come together. Like other cancer susceptibility syndromes, such as ataxia telangiectasia and xeroderma pigmentosum, FA patients exhibit a unique hypersensitivity to DNA crosslinking agents, which is the key to the biology of FA. Unlike the other syndromes, exceedingly little is known about FA.
We have three other ongoing projects related to FA. First, we have begun to purify the protein complexes containing gene products that are defective in 2 additional hematopoietic failure syndromes, Diamond-Blackfan anemia (DBA) and congenital dyserythropoietic anemia (CDA).
Second, we are investigating ways to use our knowledge of genomic instability for improving cancer therapeutics. We have been working on tax1, a viral oncogene, in collaboration with the Semmes laboratory at Eastern Virginia Medical School. Interestingly, tax1 chemosensitizes p53 mutant cells in culture.
Finally, we have also started a more clinical project, using mass spectroscopy technology we have used to find FA binding proteins. Again in collaboration with the Semmes laboratory, we have adapted the mass spec to analyze sera from patients with pediatric malignancies in order to identify unique protein markers of disease.