Menkes disease research

A private donor has raised funds to support research into finding treatments for the copper deficiency disorder Menkes disease. The donor has indicated that these funds will be directed to my research group and the Monash Donor Services team is currently liaising with the donor to facilitate the transfer of the funds. The funds are thought to be approximately AUD 14,000.
With these funds I intend to carry out a pilot screen for chemical compounds able to restore copper transport function to Drosophila larvae which have had pathogenic mutations introduced into the sole functional copy of the ATP7 copper transport gene. The main concept is that we will test compounds that have the potential to increase ATP7 function by preventing its degradation, improving its stability, or relocating it to the correct cellular position.
Currently all the appropriate Drosophila strains have been generated and initial experiments performed to determine the optimum culture conditions for the chemical screen. The funds will be used to purchase chemicals to be tested as well as other reagents required such as tissue culture plates.