Risk genes for neuropsychiatric disorders
Mental health disorders such as schizophrenia and bipolar disorder are often debilitating conditions with strong genetic components and many sites in our DNA have been identified that confer risk or protection to them. Lagging behind the identification of risk loci is an understanding of which genes are involved and how changes in their expression and splicing can confer disease risk.
We are using cutting-edge technologies such as long-read Nanopore sequencing to investigate risk gene expression in stem-cell derived neurons and human brain to understand how they confer disease risk. We recently pioneered this approach using Nanopore sequencing to examine the risk gene CACNA1C in human brain.
This information will be critical to translate genetic findings into a better understanding of disease pathology and identify potential treatment targets for these disorders.
Prof Paul Harrison, University of Oxford, UK
A/Prof Liz Tunbridge, University of Oxford, UK
Dr Wilfried Haerty, Earlham Institute, UK
Prof 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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