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2020

CURE Epilepsy Research Continuity Fund

Transciptomic Diversity of Cell Types in Cortical Malformations

Lakshmi Subramanian, PhD
UC San Francisco
 

Focal Cortical Dysplasia (FCD) is a brain-malformation that causes debilitating and often intractable epilepsy in children. FCD is caused by mutations that result in the abnormal development of a small region of the brain.

Dr. Subramanian is exploring how genetic errors in a small number of developing brain cells result in brain malformations that are associated with seizures. She is using cutting-edge sequencing technology to screen thousands of individual cells from healthy and seizure-generating brain regions for high-risk genes, and to characterize abnormal cell types seen in FCD. Further, she is utilizing advanced tissue culture techniques to recreate FCD-associated mutations in a laboratory model of brain development to understand how the disease alters normal developmental processes. These studies will help decipher the developmental origins of FCD and help discover new drug targets and therapeutic interventions.

Dr. Subramanian’s research is funded by CURE Epilepsy. Dr. Subramanian has already made several important discoveries that were published recently. The CURE Epilepsy Research Continuity Fund will allow her to finish up this work which was delayed due to COVID-19 related laboratory closures.