Our goal was to investigate epigenetic regulation of stem cell fates. This approached has aided our understanding of how stem cells are both unique depending on the type of stem cell, yet share common epigenetic features that likely contribute to key stem cell characteristics such as the ability to self-renew. We also used epigenetic patterns to identify regulatory sequences in the genome that control gene expression in these cells. Upon doing so, we were also able to identify disease-related genetic and epigenetic variations at these regulatory elements that correspond with gene expression and may explain the disease phenotype even when genes are not mutated.
Stem cells are highly relevant to regenerative medicine. Understanding how their gene expression can become disrupted is important for translational medicine. Our studies provide insight into how these cells might fail to properly differentiate into the necessary daughter cells and thereby result in a disease phenotype.