Noncoding DNA: A whole lot of junk or a treasure trove of discovery?

Noncoding DNA: A whole lot of junk or a treasure trove of discovery?

Project details

The genetic drivers of neurodevelopmental conditions (e.g. autism spectrum disorder) are poorly understood. Interestingly approximately 95% of genetic variants identified in genome-wide association studies associated with neurodevelopmental disorders are in noncoding or 'junk' DNA regions. As these regions do not code for protein, it is challenging to understand their function.

The Masters lab is interested in how noncoding elements of the genome influence inflammation and neurodifferentiation. We have developed the world’s first CRISPR screen for noncoding DNA. Using induced pluripotent stem cells, we will screen for noncoding regions of the genome that regulate the inflammatory phenotype of innate immune cells and differentiation of neurons. Identification of said regions will lead to a better understanding of neurodevelopmental disorders and the role inflammation plays in these conditions.

About our research group

In the Masters laboratory, we identify possible autoinflammatory disease causing mutations through clinical data. Recently, the group has begun focusing on neuroinflammation, which is a clinical symptom of many monogenic autoinflammatory diseases. We investigate suspected disease-causing mutations using genome editing by the CRISPR/Cas9 system, basic molecular and cellular techniques and super-resolution imaging. We maintain close links to industry and the clinic to make sure our discoveries can continue to have a direct effect on human health in the future. 


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Dr Sophia Davidson profile photo
Inflammation division

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