Fanconi Anemia; Hematology; Medical Oncology; Neoplasms by Histologic Type; Pediatrics; Therapeutics; Genomic Instability
Molecular Virology: Virology laboratories
Stem Cell Center, Yale: Stem Cell Self-Renewal and Cell Symmetry
The Kupfer 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). Interestingly, children with FA are born with congenital anomalies and develop aplastic anemia and an assortment of leukemias and other cancers. Based on our interest on marrow failure and genomic instability, we have also started working on 3 related projects. 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). As in FA, the proteins (RPS19 for DBA, codanin for CDA) have no known function, and additional genes accounting for additional genetic complementation groups remain to be cloned and identified. Second, we are investigating ways to use our knowledge of genomic instability for improving cancer therapeutics. 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. These markers could then be used for diagnosis, prognosis, staging, and tracking of minimum residual disease in patients. In addition, our goal is to identify interesting proteins for further analysis in our laboratory.
Specialized Terms: Genomic instability; Development of cancer; Genetic syndrome Fanconi anemia (FA); Viral protein enhancement of cancer therapeutics
Extensive Research Description