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Approved Research

Identification of the mechanism of action of brain disorder-related genetic risk variants.

Principal Investigator: Dr Gerald Quon
Approved Research ID: 60202
Approval date: July 20th 2020

Lay summary

To date, hundreds of mutations in human DNA have been identified as associated with risk of different brain-related disorders such as schizophrenia, bipolar disorder and autism In order to use this knowledge develop medical therapies, we need to figure out how these mutations actually cause an increase in risk of disease.

The aims of this research project are to (1) find out if there are any mutations that directly change how human neuron (brain) cells respond to inputs; and (2) figure out if there are any general changes in how neurons respond to inputs, when many healthy individuals are compared to many individuals with a brain disorder.

The completion of our study will yield a list of mutations that are likely to impact human risk of brain disorders through changes in how individual neurons respond to inputs. This will allow medical researchers to then focus their efforts on finding therapies on specific mutations that are likely to change how our brain cells work.