Posts by Patricia L. Musolino, MD, PhD
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Hematopoietic Stem-Cell Gene Therapy Restores White Matter Microvascular Function in Cerebral Adrenoleukodystrophy
Arne Lauer, MD, Patricia L. Musolino, MD, PhD, and colleagues found that ABCD1 gene therapy with autologous hematopoietic stem cells halts the progression of cerebral adrenoleukodystrophy at least in part because it improves microvascular circulation of the entire cerebral white matter.
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Developing a Gene Therapy for an Extremely Rare Cerebrovascular Disease
Massachusetts General Hospital physician-scientist Patricia Musolino, MD, PhD, was a key investigator in a clinical trial that led to the first FDA-approved gene therapy for a cerebral disease. Her research is focused on studying rare genetic disorders to develop approaches that may lead to gene therapy treatments.
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Rare Smooth Muscle Disorder Traced to a Single Mutation in a Non-coding Gene
In the first case of its kind, Massachusetts General Hospital researchers detected a monogenetic vascular disease caused by a mutation in a non–protein-encoding gene. They linked multisystemic smooth muscle dysfunction syndrome to a single-nucleotide variant in MIR145.
Biography
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 Massachusetts General Hospital 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.
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