
Researcher Profiles

Jonathan B. Heimlich, M.D., Ph.D.
Vanderbilt University Medical Center
2023 Funding recipient
Identifying pathologic signaling leading to vascular dysfunction in MDS
EvansMDS Young Investigator Award
PROJECT SUMMARY
MDS or myelodysplastic syndrome is a disease that affects blood production and causes low blood cell counts. There is a similar condition called clonal cytopenia of undetermined significance (CCUS) that can develop into MDS. We believe that problems with the blood vessels in the bone marrow may play a role in causing low blood counts in MDS. We recently used a new method to examine the genes and cells of patients with CCUS who have common mutations in MDS genes. The results showed that the mutated cells had altered gene expression and caused inflammation. This led us to speculate that similar gene expression patterns cause blood vessel dysfunction in MDS. Using cutting edge techniques to find mutated cells in the blood of patients, further tests will be done to see if these mutated cells impact the blood vessels in the bone marrow, and ultimately progression of cytopenias in MDS. This includes looking at cells from the bone marrow of CCUS patients and using a large database of people with MDS mutations to see if certain gene changes protect them from worsening. We will additionally test these findings using lab-manufactured cells containing MDS mutations to confirm our results. The goal of these experiments is to learn more about the role of these mutated cells in the disease and find potential treatment targets, ultimately improving the lifespan of patients with MDS.