Professor of Genomic Medicine
- Principal Investigator
- Deputy Director, Wellcome Trust Centre for Human Genetics
- Honorary Consultant Physician
- Tutor and Fellow, Merton College
- Director, Medical Sciences Division Graduate School
- Genomic Medicine Theme Lead, NIHR Oxford Biomedical Research Centre
- Research Director, Central and South NHS Genomic Medicine Service Alliance
My work aims to promote excellence in translational genomic science and delivery into the clinic for patient benefit. I do this through an active research programme and leadership in local and national initiatives establishing use of genomic medicine through education and clinical implementation.
Our research uses a genetics and -omics led approach to understand why some individuals develop an inappropriate or dysregulated immune response, how this may contribute to disease, and opportunities to advance personalised medicine approaches. This includes application to the severe infection and critical illness together with autoimmune disease.
For example, in acute sepsis we found patients can be stratified from white blood cell RNA signatures, independent of aetiology and predictive of their immune response state, outcome, and differential response to therapy with a specific poor outcome endotype driven by neutrophil and bone marrow dysfunction.
During the recent pandemic we investigated immunological drivers of severe COVID-19 including through the COVID-19 Multi-omic Blood ATlas (COMBAT) Consortium. With the Oxford Vaccine Group we found specific HLA alleles are associated with vaccine immunogenicity and breakthrough infection.
Complementing this, we conduct research into genetic and epigenetic modulators of the induced innate immune response. This includes the nature and functional significance of disease associated genetic variants in relevant contexts such as following innate immune activation or in acute ankylosing spondylitis.
We are also innovating ways to integrate multi-omic datasets and establish causal relationships, and approaches to enhance the utility of human genetics for understanding disease pathogenesis and novel therapeutic targets.
I am clinically active, working in acute internal medicine; support implementation of research into practise through the Central and South NHS Genomic Medicine Service; capacity building genomic medicine in through education and training; use of genomics for diagnostics and drug target identification and validation; and public engagement.
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.
Akbari P. et al, (2023), Nature communications, 14
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E. et al, (2023), Nature, 619
SARS-CoV-2 human challenge reveals single-gene blood transcriptional biomarkers that discriminate early and late phases of acute respiratory viral infections
Rosenheim J. et al, (2023)
Characterisation of the genetic determinants of context specific DNA methylation in primary monocytes
Gilchrist JJ. et al, (2023)
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E. et al, (2023), Nature