Finding cures for children's genetic diseases


Ambitious project to make a road map for epilepsy

A team of researchers from Children’s Medical Research Institute have had some impressive results from an “ambitious project’’ which will make it easier to find treatments for neurological conditions such as epilepsy.
The work of Mark Graham, Phil Robinson, Jesse Wark and Kasper Engholm-Keller has been published this week in Public Library of Science (PLOS) Biology. The Westmead-based team worked in collaboration with an international team based in Australia, Denmark and Germany.
Dr Mark Graham is Group Leader of Synapse Proteomics at Children’s Medical Research Institute. He and his team were able to establish a new method to identify protein signalling pathways in the brain, therefore providing a new depth of understanding about these control networks.
“We’ve documented the circuit diagram inside brain cells, which tells us which protein pathways are important,’’ Dr Graham said. “It’s like finding out the difference between a spark plug and a cup holder in a car. Now we have the evidence to show which parts are more important.’’

Dr Graham and his team, who have worked on this research for the last four years, said it was a “really important project’’.
“It felt very risky to take on such an ambitious project, but once we had an early look at the data we were keen to get it out because we knew we were onto something really exciting,’’ he said.
He hopes it will direct future research in drug targeting and could be applied to many neurological diseases from epilepsy to dementia and genetic eye disease. His next focus will be on epilepsy.
“We can now take on any disease with this approach and do everything faster,’’ Dr Graham said. “We can look at where the effects of a seizure are focused on our map and pinpoint that area with targeted therapies – that’s the hope. We think this is going to be more useful looking at epilepsy broadly.
“Essentially we have a road map to help us move ahead. This will be the launching point.’’
The work was done by the teams from CMRI’s Synapse Proteomics, Cell Signalling Unit and Dr Ashley Waardenberg, formerly of the Bioinformatics Unit at CMRI, now at James Cook University (QLD). They also worked with researchers from the University of Southern Denmark and Bonn University in Germany.