Uncovering the role of chromosome 21 in Down syndrome-associated leukemias

Dr. Jason Sheltzer, Ph.D. – Yale University, New Haven, CT

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. Children with Down syndrome are 150 times more likely to develop leukemia compared to other children. However, we don't fully understand why having an extra chromosome leads to cancer. Our research aims to uncover how this extra copy of chromosome 21 affects leukemia growth in children with Down syndrome.

My laboratory has developed a new technique that allows us to remove specific chromosomes from human cells. Using this method, we plan to create matched sets of leukemia cells- some with an extra chromosome 21 and some without. This will give us a powerful tool to directly compare how this extra chromosome impacts cancer. We will use this technique to discover how gaining a copy of chromosome 21 affects gene expression, cancer cell growth, and responses to chemotherapy drugs.

Through this work, we hope to gain an improved understanding of why children with Down syndrome are at a higher risk for leukemia. Additionally, by identifying key cellular processes affected by the extra chromosome, we hope to uncover new targets to treat leukemias in these children.