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Research on Genetic Components of Traumatic Brain Injury has Implications for Precision Medicine

Thu, 05/10/2018

Ruchira Jha, MD, and colleagues are exploring a potential role of precision medicine in the understanding of cerebral edema in traumatic brain injury (TBI). Specifically, they are looking at the role of the sulfonylurea receptor 1 (Sur1) pathway related to cerebral edema in TBI. Their study, “Regionally clustered ABCC8 polymorphisms in a prospective cohort predict cerebral oedema and outcome in severe traumatic brain injury” identified four ABCC8 single-nucleotide polymorphisms that are associated with cerebral edema and outcome in severe TBI. 

“We’re at ground zero for figuring out the role of genetics in general and innate responses to edema and outcome after TBI,” said Dr. Jha, who is a neurocritical care intensivist and an assistant professor in the Department of Critical Care Medicine at the University of Pittsburgh. “These four ABCC8 polymorphisms point us in the right direction by opening up new lines of investigation.”

The study was published April 19 in the Journal of Neurology, Neurosurgery & Psychiatry. Co-authors include Robert Clark, MD, Lori Shutter, MD, Jessica Wallisch, MD, and Patrick Kochanek, MD, from Pitt’s the Department of Critical Care Medicine.