Finding cures for children's genetic diseases


Synapse Proteomics Group

Much information is now available on which genes are implicated in particular diseases. Genes are the instruction book, but the proteins they code for are what we're interested in. They are the molecular machines of the cell and the targets of therapeutic drugs. 

After genes are coded into proteins, the proteins are then ‘decorated’ with multiple chemicals, called post-translational modifications (PTMs).  PTMs alter protein behaviour/function. The Synapse Proteomics Group focus on defining protein PTMs and how they affect protein function. 

The proteins we are particularly interested in are crucial for the formation of vesicles. Vesicles are tiny 'cells within cells' which are made from the cell membrane. Vesicles are used to store neurotransmitter in the brain, and vesicle formation is also necessary for the transport and degradation of crucial environmental signalling molecules, e.g. those involved in inflammation.

The high fidelity production of vesicles is a crucial cellular process that is important for many diseases, but detailed mechanistic information on the proteins involved is still lacking. We aim to fill in these critical gaps in our knowledge so we can develop better treatments for such diverse diseases as epilepsy, Alzheimer's, and childhood leukaemia.

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