Scientists engineered stem cells to better understand the mechanisms behind a form of leukemia caused by changes in a key gene.
Past work had established that inherited changes in the DNA code for the gene PTPN11 cause Noonan syndrome, a genetic disease that comes with a high risk for the blood cancer called juvenile myelomonocytic leukemia (JMML). The mechanisms behind the disease, and what influences its severity, were unknown going into the current study.
In addition, the only current treatment for JMML, a bone marrow transplant to replace the hematopoietic stem cells that become blood cells, is effective in only 50 percent of patients. This has further spurred efforts to understand related disease mechanisms as a step toward designing better treatments.