Mark Evan Lindsay

This study shows that smooth muscle dysfunction caused by ACTA2 mutations leads to cerebrovascular reserve failure, increasing brain vulnerability to hypoperfusion and injury.

This paper develops a customized CRISPR-Cas9 base editor to correct the ACTA2 R179H mutation in a mouse model of MSMDS, improving survival and rescuing vascular and neurological phenotypes.

The paper uses deep learning and genome-wide association studies to identify genetic loci associated with right heart structure and function in 40,000 individuals.

This study uses deep learning to analyze aortic dimensions from MRI and identifies genetic loci associated with aortic diameter, highlighting SVIL as a key gene and developing a polygenic score for aneurysm risk.

The paper shows that dysfunctional vascular smooth muscle cells contribute to neuroinflammation and Tau hyperphosphorylation in Alzheimer's disease through phenotypic transitions and loss of contractile markers.