Rational and overview of the disease – the phenotype

The DISCOver project was born at the G. Gaslini Institute in Genoa and aims to study the genetic basis of cortical developmental defects, to explore innovative approaches to personalized medicine. The technology of interest is that of RNA molecular probes for the activation of genes affected by mutations that cause functional loss. Starting from the production of molecular probes for the TSC1 and TSC2 genes for tuberous sclerosis, the most common form of cortical developmental defect, the female phenotype KIAA2022 / Nexmif has now been studied.