Developing novel therapeutic targets for neurological disease in Australia.
Questions to be answered
Variations in genes that regulate brain connectivity cannot be restored using current therapeutics. However, targeting synaptic homeostasis, or normal signaling, is potentially an important therapeutic mechanism that could alleviate symptoms without the need to change neuronal circuitry. Our work is examining this concept by testing whether we can develop therapeutics that do not directly target the mutant protein Homer but instead target the signalling mechanisms regulated by Homer. This work will not only have implications for the Homer proteins, but also other related proteins that are also implicated in conditions such as autism and depression.
GOAL ONE
We will examine how the Homer gene variant disrupts normal function in synapses in lab-based studies.
GOAL TWO
We will use ISPC - Induced pluripotent stem cells grown from the skin or blood of affected individuals and converted into neurons - to study basic nervous system function of affected individuals and recapitulate the pathophysiological and the pharmacy-responsive properties of the “Homer Brain”. We will use electrophysiological testing measures to develop targeted precision based medicines to treat the neuronal complications associated with Homer variants with the potential of these targets being efficacious in treating other neurological diseases involving calcium signalling and scaffolding proteins.
GOAL THREE
We will then use our evidence base derived from our first 2 goals to increase awareness of the implications of Homer variants and other rare scaffolding proteins in neurological conditions, building a suite of tools to assist patients and their families to reach better outcomes.
Timeline
How can you help?
We welcome scientific collaboration and people seeking information about Homer Hack.
You can also donate to the Homer Hack Neurodevelopmental Research Fund. Your contribution will go to our research goals. All donations are tax deductible.