Identification of genetic modifiers for SMAD3-related aortopathy:
In order to identify genetic modifiers explaining intra-familial variability in presentation of LDS-related aortopathy, we are currently applying linkage analysis and whole genome sequencing in two large families with SMAD3 mutations that demonstrate marked intrafamilial variability. After functional confirmation in induced pluripotent stem cell (iPSC) derived vascular smooth muscle cells (VSMCs), these genetic modifiers will allow us to discriminate mutation carriers who are at high risk for aortic dissection from those who are at low risk. This will provide new mechanistic insights in the disease process and improve patient management.
SMAD3