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Study Explores Genetic Mysteries of Seizures and Brain Malformations

A groundbreaking National Institutes of Health-funded study aims to uncover how genetic variants contribute to seizures and brain malformations. By analyzing individual brain cells, researchers hope to pave the way for new therapies and better understanding of these conditions.

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Researchers at the University of North Carolina (UNC) at Chapel Hill Adams School of Dentistry and UNC Eshelman School of Pharmacy are embarking on a groundbreaking study, funded by more than $420,000 from the National Institutes of Health, to explore how genetic variants contribute to seizures and brain malformations. This study, “Genotype-Informed Single-Cell Transcriptomic Profiling of Mosaic Brain Tissue” will deeply analyze individual brain cells to understand the effects of noninherited genetic variants that arise during embryonic development, leading to mosaicism. Such variants can cause seizures and brain malformations, which can sometimes be treated surgically by removing abnormal brain tissue. The proof-of-concept study will investigate a mixture of cells with and without the genetic variant causing brain malformation, focusing on gene regulation in various brain cells. The team aims to reveal disease mechanisms specific to cell types, improve understanding of neurological and neuropsychiatric diseases, and identify new therapeutic strategies. Click here to read more.

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