The research

Duration and costs

This particular research project is initiated by the parents of children who have INAD.
The duration of this project is set for two years, this way the parents will have time to raise funds for the costs of the research. The costs for the program are $150.000,00 for the first two years. The objective is to not only raise enough funds for the project , but also to boost the program with additional funding. This way additional lab space and researchers can dedicate their time to find a cure or treatment against INAD. The gifts by the foundation to the University of Washington are described in the memorandum of understanding, where is stated that funds can only be used for INAD research by the researcher and university.

SUMMARY
The goal of the INAD research project in the Kotzbauer lab is to develop treatments for impaired PLA2G6 enzyme function, the underlying cause of Infantile Neuroaxonal Dystrophy (INAD). The PLA2G6 gene encodes an enzyme that catalyzes the hydrolysis of phospholipids and lysophospholipids to produce free fatty acids. Gene mutations that cause INAD interfere with the ability of the PLA2G6 enzyme to function properly. The lab is developing approaches to screen chemical compounds for their ability to either directly improve the function of the PLA2G6 enzyme or to stimulate other enzymes to compensate for impaired PLA2G6 function. The goal of the current project is to develop efficient and sensitive screening approaches and then to perform initial screens to identify compounds with the desired properties. The initial screeningeffort could identify molecules that are suitable for further optimization and testing as therapeutic agents. The research will also provide important information about the best strategies for further screening efforts to develop treatments for INAD. dr. P.Kotzbauer
The researcher
Paul Kotzbauer MD, PhD
Associate Professor, Dept of Neurology
Washington University School of Medicine
660 S. Euclid Ave, Box 8111
St. Louis, MO 63110 USA
http://www.neuro.wustl.edu/aboutus/facultybiographies/kotzbauer

INAD proposal 2015-06-03