About me
I am a biostatistician with broad methodological expertise in machine learning (doctoral training) and genetic epidemiology (post-doctoral training). The aims of my research programme are to understand disease pathogenesis, and to inform decisions around disease diagnosis, prognosis, and treatment using probabilistic models and computational approaches. Much of my work is on developing methods and tools to enable such predictive and causal inferences through the analysis of large-scale, high-dimensional datasets, combining genetic and biomarker data with clinical outcomes. I mostly research the aetiology and management of autoimmune diseases, especially rheumatoid arthritis and type 1 diabetes, though the methods I develop are more broadly applicable.
I am funded by Versus Arthritis as a Career Development Fellow and I am a Lecturer at the Usher Institute, University of Edinburgh, where together with Paul McKeigue, I lead the Target Genetics and Precision Medicine group. I am also an affiliate of the Institute of Genetics and Cancer, where I work closely with the Diabetes Medical Informatics and Epidemiology group, led by Helen Colhoun.
Work on Genetics & Precision Medicine
The goals of this work are to:
- Prioritise targets for drug development programmes by identifying genes proximal to disease - drugs with support for an indication from human genetic data are 3 times more likely to be successful in clinical trials and effective in treating the disease.
- Identify prognostic and predictive biomarkers to tailor interventions (e.g., choose treatment) in people with the disease.
I am co-leading the development of the GENOSCORES platform, which implements computation of genotypic scores for biomarkers and complex traits, and genetic analysis based on genome-wide aggregated trans-effects (GATE). GATE is a novel statistical method that uses trans-associations of SNPs with gene expression (trans-eQTLs) and with protein levels (trans-pQTLs) to identify core genes for disease. We have shown that this method identifies genes that are current drug targets and promising new ones for type 1 diabetes and for rheumatoid arthritis, with work on other disease applications underway.
In 2025, I was awarded a Career Development Fellowship by Versus Arthritis, with the aim to develop a precision medicine approach for rheumatoid arthritis. This means diagnosing people earlier and choosing the most effective treatment based on their biomarker profile. I will first create a more accurate and complete identification of what we think are core genes for rheumatoid arthirtis based on genetic analyses. I will then assess if the activity of these core genes is predictive of who has the disease among those with early symptoms and who will respond well to a certain treatment.
Work on Pharmacoepidemiology
The goal of this work is to answer questions about the safety and efficacy of treatments used to treat autoimmune rheumatic diseases based on real-world data. Clinical trials must show that medicines are safe and effective before doctors can prescribe them. However, trials last for a short period of time, and not everyone can take part in them. Thus, unanswered questions about their use in real life remain.
I have led the creation of a national rheumatology data linkage study, which is hosted by eDRIS within the Scottish national safe haven. The study links data on biologics prescriptions with health outcomes for all people seen in adult rheumatology clinics in Scotland, allowing us to study the real-world safety and effectiveness of anti-rheumatic drugs. This is of particular importance for newer biologic and targeted synthetic treatments, as these prescriptions are not recorded in routinely collected data, even though these classes of drugs are now commonly used in rheumatology (and other specialties).
As part of creating the national rheumatology data linkage study, I have worked with people in NHS Lothian (rheumatology and digital innovation teams) to develop an app that will better capture data on biologics prescriptions directly at the rheumatology clinic. The app is planned to go-live in the NHS Lothian rheumatology clinic in June 2025.