Every one of us carries coding changes in our DNA that disrupt the function of genes; many of these changes are rare in the population, and some are even unique to us and our relatives. These changes are heritable, naturally-occurring and contribute to our inter-individual differences. The aim of my research is to identify these changes and to use them as “experiments of nature” to gain insights into why some individuals are more susceptible to certain diseases than others. Identifying the underlying causes of such diseases will also help in the identification of new drug targets.
We are working towards defining the full spectrum of rare and common germline genetic variation responsible for neurological diseases, with a focus on gene-disrupting variants. We are performing a rigorous interrogation of the entire protein coding regions of the human genome in large collections of patients and controls, to identify genes that are recurrently disrupted by germline variants in disease cases but not (or rarely) in controls. In collaboration with overseas brain banks, we will also investigate the roles of somatic mutations in post-mortem diseased brain tissue, thus exploring an alternative mechanism through which gene-disrupting mutations may underlie a disease.
Our research will cover neurodegenerative diseases, childhood neurological diseases, mental health and cognition, and is also open to other genetically-tractable human traits. Newly-identified genes and variants will be followed up functionally and epidemiologically in our lab, in collaboration with other colleagues at LKC School of Medicine and GIS.
Research positions are available. Please send your CV and contact details of two referees to email@example.com