Our ongoing projects include studies on the role of inherited mutations in POT1 and several other genes in glioma development. POT1 gene encodes for a protein involved in telomere maintenance, and we have discovered that mutations in this gene can alter a number of biological processes including telomere length, cell cycle and proliferation, and even cell-extrinsic parameters such as immune response in a glioma mouse model.
More interestingly, we found these effects to be sex-dependent and consistent with a sexually dimorphic survival phenotype. Furthermore, and relevant to human glioma, our findings were surprisingly concordant with the available TCGA data on IDH-wildtype diffuse glioma. Supported by NIH funds, this work was published in Cancer Research and featured on the journal cover. Work on this project is ongoing.
Additional projects of current and future interest in the lab include characterization of the role of several single nucleotide polymorphisms in glioma development and progression as well as adapting our glioma model to other brain tumors and studying genetic manipulations and treatments aimed at slowing down tumor progression and improving survival.