The Chlon lab studies how inherited mutations in certain genes cause predisposition to blood cancers. Inherited mutations in genes involved in DNA repair, protein synthesis and telomere maintenance commonly cause genetic disorders where one facet is high susceptibility to blood cancers.

The mission of our lab is to understand why these mutations cause blood system defects that lead to cancer development and how we can improve therapy for these patients. Currently, the only curative therapy for these disorders is bone marrow transplant, which is not an option for some patients. Thus, novel targeted therapeutics that eradicate cancer cells and promote healthy blood cells are required.

In particular, our work focuses on a gene called DDX41 that causes predisposition to adult onset myelodysplastic syndrome and acute myeloid leukemia. DDX41 mutations are not associated with any congenital abnormality and patients live normal lives into adulthood. The inherited mutations are always heterozygous because at least one copy of DDX41 is required for survival. However, patients typically acquire a mutation in their other allele of DDX41 in their diseased blood cells. It is not currently understood why these mutations cause blood cell defects that would lead to cancer.

The effect of these mutations on the blood system and how they cause MDS and leukemia are the current subject of our work.