Alumni
This person is a member of Sanger Institute Alumni.
Human diseases have a strong burden on both affected individuals and society as a whole. Many of these diseases have a strong genomic component, which can be used to improve the understanding of the disease, leading to better prevention, diagnosis, and treatment.
Consequently, my aim is to uncover the genetic and genomic contribution to a range of human disorders. To this end, I combine a variety of datasets and techniques:
- I use genetic sequencing data to identify genetic variants that are associated with complex human traits. In particular, isolated populations can be used to identify rare variants that have risen to higher frequency and are possibly under selection. Consequently, I am looking into associations with haematological traits in Greek and Ugandan isolated populations.
- I apply gene-set and network association approaches for genetic data (from single nucleotide to copy number variants) to uncover the biological processes that contribute to the disease aetiology. For example, I have developed an approach to test whether affected individuals have an accumulation of gene disruptions in a given pathway, and applied this successfully to autism (see publications below).
- I analyse and combine methylation, gene expression, and proteomics data to understand the differences between disease and intact tissue samples within individuals or between individuals. This can identify convergence on both gene and gene-set level. For example, I have found strong convergence of gene-sets associated with knee osteoarthritis based on the three -omics data types (publication forthcoming). Further work on hip osteoarthritis is in progress.
In the future, I aim to further work on large-scale genetic and genomic data. In particular, the growth of biobanks and electronic health records will offer an unprecedented volume of phenotype and multi-omics data with high granularity. Therefore, integrative methods will be central to maximise the insights and thus health benefits of genetics and genomics.
My timeline
Appointed as Bye Fellow, Murray Edwards College, University of Cambridge
Appointed as Research Associate, Murray Edwards College, University of Cambridge
Appointed as Postdoctoral Fellow at the Sanger Institute, Analytical Genomics of Complex Traits team
DPhil, University of Oxford: "Functional Genomics Analyses of Neuropsychiatric and Neurodevelopmental Disorders"
Early Career Investigator Award Finalist, XXIst World Congress of Psychiatric Genetics
Wellcome Trust 4-year PhD Studentship, University of Oxford
MMath, University of Oxford (Double First Class Honours)
Gibbs Prize for Mathematics, University of Oxford
Junior Mathematics Prize, University of Oxford