Moyamoya Disease (MMD) is characterized by the uni- or bi-lateral occlusion of primarily the internal carotid artery, with subsequent development of fragile, abnormal collateral vessels. Diagnosis is difficult and usually occurs following clinical presentation of hemorrhagic or ischemic stroke, seizures, migraines or developmental issues.
With access to samples from a uniquely large cohort of patients at Stanford, along with cutting edge techniques, we are able to comprehensively study several aspects of MMD pathology, including genetics, gene expression, proteomics, tissue ultrastructure and autoantibody expression. Together, these technologies may identify a specific set of molecules that identify MMD in patients earlier for more effective interventions. Our high throughput genetic and epigenetic studies aim to screen for genetic changes that underlie the Moyamoya disease, which will help identify novel candidates for diagnosis of moyamoya disease.
In one of the most ambitious efforts in MMD patient sequencing to date, we are currently collaborating with Personalis, Inc. to determine the genetic component of this disease. We have sequenced the exomes of 125 MMD patients and 125 matched controls for gene variants that may be associated with MMD. This work will have a significant impact in MMD research and will most certainly advance what we know regarding the genetic basis of MMD.
We are also studying the unique gene expression profiles of affected and unaffected arteries from the same Moyamoya patients, compared to control arteries from other individuals. This work, carried out with the Stanford Genome Technology Center, together with the array tomography (a technique that enables high-resolution imaging of proteins expressed in tissue), has provided us with a unique way to look at MMD vasculature, both at the mRNA and protein levels.
In collaboration with Dr. Minnie Sarwal (now at the California Pacific Medical Center), we have identified 165 novel autoantibodies present in the serum of patients with MMD compared to control patients. We are continuing this research to further explore why these autoantibodies are being expressed, and if these results can be translated into potential diagnostics.
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