Moyamoya

Moyamoya disease (MMD) is a rare and progressive cerebrovascular disorder characterized by narrowing and eventual occlusion of major arteries supplying the brain, resulting in stroke, cognitive impairment, and other neurological complications. Although advances in neurosurgical treatment have improved outcomes for many patients, the biological mechanisms responsible for disease initiation and progression remain poorly understood, and no therapies currently exist to prevent or reverse the underlying vascular pathology.

Our research seeks to define the molecular mechanisms that drive vascular occlusion in MMD.We are particularly interested in understanding how genetic susceptibility, immune dysregulation, environmental triggers, and vascular remodeling interact to drive disease initiation and progression. To address these questions, we employ a multidisciplinary approach that integrates patient-derived cellular models, functional genomics, single-cell and spatial transcriptomics, computational biology, and analysis of human vascular tissues. By studying endothelial cells, vascular smooth muscle cells, circulating immune cells, and diseased brain vessels, we aim to understand how molecular alterations within individual cell types interact to produce the complex vascular changes observed in patients.

A major focus of our work is identifying the signaling pathways and cellular interactions that regulate endothelial dysfunction, vascular smooth muscle cell remodeling, extracellular matrix reorganization, and immune-mediated vascular injury. Through the integration of experimental and computational approaches, our goal is to construct a comprehensive molecular framework for MMD pathogenesis and use this knowledge to identify biomarkers, therapeutic targets, and future precision medicine strategies for patients affected by this devastating disease.