Neuropsychiatric disorder gene characterisation with Nanopore sequencing
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. Hundreds of genes in our DNA have been identified that confer disease risk, however, we have a poor understanding of how changes in their expression and splicing confer disease risk. This project will utilize Nanopore sequencing, a ground-breaking technique, to decipher the expression and splicing patterns of neuropsychiatric risk genes in human brain and stem cell models of brain development. This will provide an unrivalled resource for discovering 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. The opportunity exists to perform the sequencing and/or conduct analysis of the expression data and this project would suit students interested in either laboratory work or computational analysis.
Paul Harrison, University of Oxford, UK
Elizabeth Tunbridge, University of Oxford, UK
Wilfried Haerty, Earlham Institute, UK
Daniel Weinberger, Lieber Institute for Brain Development, USA
Clark MB*, Wrzesinski T*, García-Bea A, Hall NAL, Kleinman JE, Hyde T, Weinberger DR, Harrison PJ, Haerty W, Tunbridge EM. (2020) Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene CACNA1C in human brain. Mol Psychiatry 25: 37–47. (* Joint first authors).
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