Seminar @Cranach House | Franklin Lo: "Aortic 'Disease-In-A-Dish': Lineage-Specific Phenotypic Abnormalities in iPSC-Derived Smooth Muscle Cells From Loeys-Dietz Syndrome"

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>> This page is only availabe in English. <<

Lecture: "Aortic 'Disease-In-A-Dish': Lineage-Specific Phenotypic Abnormalities in iPSC-Derived Smooth Muscle Cells From Loeys-Dietz Syndrome"

Aortic Aneurysms are characterised by a dilatation of the aorta due to the weakening of the blood vessel wall. They can lead to life-threatening aortic dissection or rupture if the aneurysm reaches a critical size.  Patients with Loeys-Dietz syndrome (LDS), a genetic connective tissue disorder caused by mutations in the components of TGF-β signalling pathway, have a high risk for thoracic aortic aneurysms (TAAs). With a life expectancy of just 37 years and no available therapies to prevent or cure TAAs, there is a huge unmet clinical need for patients with LDS.

In his PhD research, he aimed to understand the underlying mechanisms driving TAA formation in LDS patients.  Smooth muscle cells (SMCs) are hypothesised to play a key role in this process. Importantly, the aorta consists of SMCs derived from different embryonic origins, and these lineage-specific cells show varying susceptibility to vascular diseases. Therefore, his research focused on using patient-derived induced pluripotent stem cells (iPSCs) to generate lineage-specific SMCs to investigate their roles in the development of TAAs in LDS. The aim is to identify therapeutic targets that can lead to the development of new therapeutics for this devastating condition.