Stella Chou Laboratory
Led by Stella Chou, MD, researchers in the Chou Laboratory are studying the molecular mechanisms of leukemia and other hematologic abnormalities in children with Down syndrome. The long-term goal of the work in this laboratory is to understand the contribution of trisomy 21 to the predisposition of children with Down syndrome to develop two related leukemias; transient myeloproliferative disease (TMD) and acute megakaryoblastic leukemia (AMKL).
Ongoing research in the Chou Laboratory is examining how mutations in the GATA1 gene in virtually all cancer cells from children with TMD and AMKL cause leukemia to develop. Using patient samples and induced pluripotent stems cells (IPSCs) from children with Down syndrome, researchers in the Chou Laboratory found that GATA1 mutations resulted in defective erythropoiesis but enhanced megakaryocyte cell proliferation by dysregulation of GATA1 target genes.
These findings suggested that normal blood cell development is altered in the context of trisomy 21 and that altered hematopoietic gene expression contributes to the development of TMD and AMKL frequently observed in children with Down syndrome.
Other research in the Chou Laboratory is focused on the use DNA-based analyses to prevent Rh alloimmunization after blood transfusion in children with sickle cell disease.
Future studies will continue to focus on the effects of an extra copy of chromosome 21 and GATA1 mutations on hematopoiesis and their contribution to TMD and AMKL development in children with Down syndrome. A separate focus of her laboratory seeks to improve molecular strategies and blood bank tools that will help to reduce the incidence of alloimmunization in children with sickle cell disease who undergo regular blood transfusions.