Senior Research Associate
My research takes an integrative approach to translate genetic association and functional genomic data to identify causal genes that underlie susceptibility to type 1 diabetes. We use a variety of functional genomic approaches to annotate regulatory landscape of chromatin in T and B cells in different activation states to identify causal single nucleotide variants and the genes that they control. We then translate these findings using the Oxford BioBank, a genotype selectable human resource of healthy individuals, to investigate the effect of disease-associated variants in relation to gene and protein expression.
I obtained my PhD at the University of Manchester studying the mechanisms of tolerance induction in transplantation using cell-based approaches. I have subsequently worked in the field of immune tolerance in autoimmunity and transplantation through my career.
Using de novo assembly to identify structural variation of complex immune system gene regions
Zhang J-Y. et al, (2021)
Discovery of CD80 and CD86 as recent activation markers on regulatory T cells by protein-RNA single-cell analysis
Trzupek D. et al, (2020), Genome Medicine, 12
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED. et al, (2020), Nature, 584
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Thaventhiran JED. et al, (2020), Nature, 583, 90 - 95
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E. et al, (2020), Nature, 583, 96 - 102