NIH R01 · 2024
Deciphering brain mosaicism in drug-resistant epilepsy at cellular resolution
Project Summary PROJECT SUMMARY Although somatic mosaicism is a known cause of malformations of cortical development (MCD), it is still difficult to detect sparse somatic variants in patient tissue and study their molecular and functional effects. The long- term goal of this project is to unravel the cellular and molecular complexity of MCD and translate this knowledge into improved diagnostic and treatment opportunities for patients. The overall objectives in this application are to (i) improve somatic variant detection, (ii) identify transcriptional correlates of somatic variants, and (iii) test functional effects of somatic variants in relevant cell types. The central hypothesis is that…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.