Neuropsychiatric disease gene characterisation with Nanopore sequencing

Summary Our research sits at the intersection of genomics and neuroscience, utilising a number of genomic approaches to investigate gene expression and function in the human brain and in neuropsychiatric disorders. We are investigating how the expression and splicing of risk genes (both protein coding and noncoding) can change to create disease risk and how detecting these changes can help us understand what causes neuropsychiatric disorders and identify novel treatment targets. A second interest of our research is to develop novel sequencing methods. Recently we have focused on Nanopore sequencing, a technology that can sequence both DNA and native RNA. We are applying Nanopore sequencing to many research questions and developing novel applications for this technology.

Project Details

Schizophrenia, bipolar disorder and depression are prevalent and often debilitating mental health disorders with a strong genetic component underlying disease risk. Limited progress has been made in treating these disorders in recent decades, as we still don't have a good understanding of their molecular causes. Many sites in our DNA have been identified that confer disease risk, however, lagging behind the identification of risk loci is an understanding of which genes are involved and how changes in their expression and splicing confer disease risk.

This project will utilize Nanopore sequencing, a ground-breaking new technique, to decipher the expression and splicing patterns of neuropsychiatric risk genes in human brain and stem cell models of brain development. The opportunity exists to perform the sequencing and/or conduct analysis of the expression data.

Together this will provide an unrivalled resource for understanding the expression and isoform profiles of neuropsychiatric disease risk genes, knowledge that is critical in order to translate genetic findings into a better understanding of disease pathology and identify potential treatment targets.