One of the major projects in my lab has been to understand the role of a specific gene, the Down syndrome candidate region-1 gene or DSCR1, in protecting individuals with Down syndrome from cancer. This past year, we have used mouse models to validate our hypothesis that three copies of the DSCR1 gene, as is found in Down syndrome individuals with 3 copies of genes located on chromosome 21, does in fact help suppress the growth of tumors. Using transgenic mouse models and molecular and cell biological techniques, we also now know that DSCR1 blocks the formation of blood vessels (angiogenesis) that would nourish the cancer cells allowing them to grow into large tumors. Therefore, the extra copy of DSCR1 acts to prevent tumor growth in Down syndrome individuals. We are currently focusing on determining whether the DSCR1 gene product can be used as a therapeutic option to prevent tumor growth in the non-Down syndrome population.

Another project in the lab focuses on understanding how mutations in the hereditary breast cancer gene BRCA1, may initiate tumor growth. Women with a mutation in this gene have a 65% risk of developing breast cancer. Recent studies in our lab suggests that one of the previously unexplored functions of this gene may be to regulate proteins that block angiogenesis or prevent blood vessel growth to nourish tumor cells. We are investigating how BRCA1 regulates angiogenesis. The ultimate goal of this work is to determine whether women with BRCA1 mutations might be treated with non-toxic anti-angiogenic therapies before the onset of breast or ovarian cancer. These preventative therapies may rescue the loss of BRCA1 function by blocking tumor angiogenesis and thus prevent the growth of breast and ovarian tumors.

It is difficult to appropriately convey how critical funding from the Garrett B. Smith Foundation has been in supporting our lab’s research projects. The Foundation’s partnership has enabled us to focus on multiple projects in order to comprehensively study cancer growth and prevention from the specific angle of understanding the process of angiogenesis. It cannot be stated enough that the Garrett B. Smith Foundation is essential to our mission of making cancer a chronic, manageable disease.