BiographyPatricia Musolino MD, PhD is a critical care and vascular neurologist with expertise in neurogenetics and neuroinflammation. Former Partners Neurology residency graduate she stayed at MGH for neurocritical care and vascular neurology fellowship and she is currently junior faculty in the divisions of Neurocritical Care, Stroke and Child Neurology. She cares for patients in the Neuroscience Intensive Care Unit, the Emergency Department and the outpatient Pediatric Stroke Clinic. Her research career started during her MD and PhD years in Buenos Aires and continued while a senior resident and fellow as an NINDS R25 post-doctoral clinical research scholar. Dr. Musolino translational and clinical research, directed by Dr. Eichler, explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. More specifically, her research focus is upon understanding the permeability of brain endothelium to inflammatory cells. Work on monogenic disorder has allowed her to model the impact of single genes upon brain microvessels and their biology both in-vitro and in-vivo. Using advanced imaging (MRI, MRI-PET and NIRS) techniques she is able to extend these insights to patients and Dr. Musolino is now exploring new therapeutic targets that ameliorate endothelial dysfunction.
ResearchOur translational and clinical research lab, directed by Dr.Eichler, explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration and inflammation. More specifically, my research focuses on how genetically determined endothelial cell-to-cell interactions underlay a broader category of vascular diseases and can be treated by molecular interventions. Cerebrovascular diseases have been traditionally approached in categories of disease where normal physiology is altered by rupture, occlusion or inflammatory processes affecting the brain vessels. A number of single gene disorders recently described have dramatically expanded our understanding of some of the mechanisms underlying the pathophysiology of stroke and vascular malformations (i.e: CADASIL, CARASIL, Loeys-Dietz, HHT, inherited thrombophilias and ACTA2). The multiple layers of the vascular system are integrated structurally where functions are maintained and governed by discrete molecular signaling and control mechanisms populations. A tailored approach to their normal and pathological mechanisms, based on genetic and molecular biology, is now within the reach of our conceptual framework and experimental methods. Studying monogenic disorders enhances our knowledge of cerebrovascular diseases and allow for innovative, high-risk interventions such as gene therapy, as well as new delivery systems based on molecular insights.