Development of Treatments for INAD

We are working towards developing treatments for impaired PLA2G6 enzyme function, the underlying cause of Infantile Neuroaxonal Dystrophy (INAD). The PLA2G6 gene encodes an enzyme that catalyzes the production of free fatty acids from lipid molecules, called phospholipids and lysophospholipids. Gene mutations that result in INAD interfere with the ability of the PLA2G6 enzyme to function properly.

Currently, we are developing approaches to screen chemical compounds for their ability to either improve the function of the PLA2G6 enzyme (gene therapy), or to stimulate other enzymes to compensate for impaired PLA2G6 function (enzyme replacement therapy). The goal is to: 1) develop efficient and sensitive screening approaches, 2) perform initial screens to identify compounds with the desired properties, and 3) develop the technology for in vitro and in vivo assessment. This project will provide important information for the development of INAD therapies.