New Investigator Research Grant Program

Children with Down Syndrome (DS) have a higher risk for a blood cancer called DS-AMKL. This often starts as a temporary condition (TAM) in infants who have the extra chromosome 21 of DS and mutations in the GATA1 gene. While TAM usually goes away, it can sometimes turn into full DS-AMKL leukemia. When this happens, new mutations often appear in genes for the "cohesin complex." This suggests these cohesin changes might be key triggers for the cancer.

Cohesin proteins help organize our DNA's structure inside cells, which controls which genes are turned on or off. If cohesin doesn't work right due to mutations, the DNA organization gets messed up. This is linked to cancer development, not just in DS-AMKL but other cancers too, though the exact process isn't fully understood.

Studying DS-AMKL is difficult because it's rare and lacks good lab models that include all its specific genetic changes (extra chromosome 21, GATA1, and cohesin mutations). This research project plans to use stem cells to build such a model. By creating cells with these exact changes, we can study how faulty cohesin alters DNA structure and helps cause cancer. Understanding these steps could lead to new ways to prevent TAM from becoming leukemia or better treatments for DS-AMKL.