Identification of genetic modifiers for TGFB3-related aortopathy (ongoing)
With this project, we want to take up the challenge of discovering genetic modifiers explaining intra-familial variability in presentation of LDS-related aortopathy by combining RNA-sequencing and whole genome sequencing on biosamples isolated from induced pluripotent stem cell (iPSC)-derived vascular smooth muscle cells (VSMCs) of affected and unaffected mutations carriers of four TGFB3 p.Asp263His founder families. Identification of genetic modifiers will facilitate delivery of true precision medicine and patient management by discriminating mutation carriers who are at high risk for aortic dissection from those who are at low risk. Furthermore, it will offer unprecedented opportunities to unravel promising new leads to novel therapeutic strategies by providing further mechanistic insights in the disease processes.
TGFB3