Patricia Musolino

Patricia Musolino MD, PhD is a critical care and vascular neurologist with expertise in neurogenetics and vascular neurology. She cares for patients in the Intensive Care Unit, the Emergency Department and the Pediatric Stroke Clinic. Dr. Musolino's research focus on understanding how brain inflammation and stroke occurs when patients carry specific genetic mutations. Dr. Musolino is also part of multiple therapeutic clinical trials in stroke and rare disorders.

As a former Mass General Brigham Neurology residency graduate, she stayed at MGH for neurocritical care 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 is the Co-director of the Pediatric Stroke and Cerebrovascular Service. Dr. Musolino clinical and research expertise revolve around the translation of discoveries in human genetics to clinical application in cerebrovascular and neuroinflammatory disorders. Training in neuroscience, brain imaging techniques and molecular biology acquired during her MD, PhD and post-doctoral education has equipped her with the tools necessary to translate discoveries from to the bench to the bedside. Her laboratory work focuses on leveraging insights from neuroimaging and gene-editing tools to understand how single genes mutations alter blood brain barrier and cerebrovascular function and to identify better therapies to improve the quality of life of patients with monogenic vascular disorders. This novel approach has already led to the development of a pre-clinical in-vitro high-throughput drug screening platform and the design of a phase-II clinical trial. Dr. Musolino's work has been recognized by several awards including the Child Neurology Society, the Hearst and Child Neurology Foundations and continues to be supported by NINDS through a K08 Career Development Award.

Education

• PhD in Neuroscience Universidad Austral, Buenos Aires (2003 — 2006)
• Doctor of Medicine (MD) University of Buenos Aires (1996 — 2002)
• BA in Education De La Salle Highschool (1991 — 1995)

Companies

• Assitant Professor in Neurology Harvard Medical School (2017)
• Neurocritical Care and Vascular Genetics. Pediatric and Adult Neurologist Massachusetts General Hospital (2013)
• Instructor in Neurology Harvard Medical School (2013 — 2016)
• NINDS K12 Clinician Scientist Schollar Massachusetts General Hospital (2013 — 2015)
• Neurocritical Care Fellow Massachusetts General Hospital (2011 — 2013)
• NINDS R25 Postdoctoral Research Fellow Massachusetts General Hospital (2011 — 2012)
• Pediatric Neurology Fellow Massachusetts General Hospital (2008 — 2011)
• Pediatric Resident Miami Children's Hospital (2006 — 2008)

Research

My translational and clinical research lab explores the relationship of mutant genes to specific biochemical defects and their contribution to cerebrovascular disease such as stroke, white matter disease and neuroinflammation. More specifically, my research focuses on how genetically determined brain 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 have 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.