Finding cures for children's genetic diseases


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  • Professor Phil Robinson
    Professor Phil Robinson

Meet Prof Phil Robinson

Cell Signalling Unit, Children’s Medical Research Institute.

“Our team has been tackling three research questions over the last few years and going forward. Our goals now are firstly; we’re trying to improve our understanding of how nerves communicate with each other. And this is important because what goes wrong in a number of diseases is at that point of nerve communication, and that’s about epilepsy, schizophrenia, mood disorders and in particular intellectual disabilities.
So the way we’re approaching that is to better understand the machinery inside nerve endings that allow neurotransmitters to be stored in nerve cells and to be released and how the supply of those neurotransmitters is maintained is the basis of understanding what goes wrong in those diseases.
So the second thing that we’re doing is developing new technologies to tackle these diseases on a larger scale than previously possible. And that’s mass spectrometry and proteomics. So the methods that we’re building now in these areas are new and what they will allow us to understand is which proteins in nerve terminals or nerve endings are changing in the disease, in various diseases in various situations.
And what that will do and it’s already doing is allowing us to focus on the proteins that we should be paying the most attention to, to understand how they’re caused or how they’re involved in the diseases to understand them in more detail. And as well, this same technology is allowing to improve the existing anti-cancer drugs by understanding how they work and finding new ways to tackle the patients that don’t respond to the current drugs.
And finally, our third research aim is a drug discovery program. We’ve run this for many years with the team of Professor Adam McCluskey from the University of Newcastle and together our two teams are designing new chemicals that we hope one day to turn into drugs, specifically the main focus is drugs that tackle epilepsy and drugs that will tackle kidney disease. And the reason is that a large number of kids and adults with epilepsy don’t respond to any epilepsy drug at the moment and we have candidates that we think is going to make an impact in that area. And secondly with kidney disease, kids with kidney disease face a life of dialysis and they face transplants, sometimes multiple times, but we hope to develop the first drug to stop that.”
Funding is what keeps Phil’s research going each and every day. With continued support he and his lab will be able to reach new milestones in the important work they do. Help us create a future without childhood diseases like cancer by donating today - and remember that every dollar counts!