Patricia Musolino MD, PhD is acritical care and vascular neurologist with expertise in neurogenetics andneuroinflammation. Former Partners Neurology residency graduate she stayed atMGH for neurocritical care and vascular neurology fellowship and she iscurrently junior faculty in the divisions of Neurocritical Care, Stroke andChild Neurology. She cares for patients in the Neuroscience Intensive CareUnit, the Emergency Department and the outpatient Pediatric Stroke Clinic. Herresearch career started during her MD and PhD years in Buenos Aires andcontinued while a senior resident and fellow as an NINDS R25 post-doctoralclinical research scholar. Dr. Musolino translational and clinical research,directed by Dr. Eichler, explores the relationship of mutant genes to specificbiochemical defects and their contribution to neurodegeneration. Morespecifically, her research focus is upon understanding the permeability ofbrain endothelium to inflammatory cells. Work on monogenic disorder has allowedher to model the impact of single genes upon brain microvessels and theirbiology both in-vitro and in-vivo. Using advanced imaging (MRI,MRI-PET and NIRS) techniques she is able to extend these insights to patientsand Dr. Musolino is now exploring new therapeutic targets that ameliorate endothelialdysfunction.
Our translational and clinicalresearch lab, directed by Dr.Eichler, explores the relationship of mutant genesto specific biochemical defects and their contribution to neurodegeneration andinflammation. More specifically, my research focuses on how geneticallydetermined endothelial cell-to-cell interactions underlay a broader category ofvascular diseases and can be treated by molecular interventions. Cerebrovasculardiseases have been traditionally approached in categories of disease wherenormal physiology is altered by rupture, occlusion or inflammatory processesaffecting the brain vessels. A number of single gene disorders recentlydescribed have dramatically expanded our understanding of some of themechanisms underlying the pathophysiology of stroke and vascular malformations(i.e: CADASIL, CARASIL, Loeys-Dietz, HHT, inherited thrombophilias and ACTA2). Themultiple layers of the vascular system are integrated structurally wherefunctions are maintained and governed by discrete molecular signaling andcontrol mechanisms populations. Atailored approach to their normal and pathological mechanisms, based on geneticand molecular biology, is now within the reach of our conceptual framework and experimentalmethods. Studying monogenic disorders enhances our knowledge of cerebrovasculardiseases and allow for innovative, high-risk interventions such as gene therapy,as well as new delivery systems based on molecular insights.
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