Simon Biddie Research Group

Research in a Nutshell

Genetic variants underpin the diversity of human populations. These variants contribute to the susceptibility of common diseases, and can cause rare diseases. The expansion of genome sequencing in populations has accelerated the identification of genetic variants. For many of these variants, how they contribute to disease, and the underlying mechanism, remains a significant challenge for the field. 

Within the group, we focus on cardiovascular and respiratory diseases. Genetic variants, from common to rare, can cause severe phenotypes in these systems. Inherited cardiac conditions such as cardiomyopathies, and severe viral pneumonias are examples. 

We use experimental and computational approaches to understand how genetic variants contribute to these disease phenotypes. Employing cellular models, combined with functional genomic methods such as molecular cloning, genome engineering and high-throughput assays, we study variants at scale, from single variants into the thousands. By combining computational approaches, such as AI/machine-learning, we predict the functional affects of variants from genomic, to transcript, to protein levels. These methods aim to uncover the function and mechanism of genetic variants in disease, to inform disease risk, and the development and design of genomic therapies. 

The group also develops genomic biomarker methods, using cell-free DNA and RNA, or “liquid biopsy”, to inform disease diagnosis, prognosis and therapy.  We are developing these biomarkers to inform clinical management of patients following cardiac arrest.

Together, these translation genomic approaches aim to improve clinical management using personalized and precision medicine. While our research is undertaken by scientists, we value input from all. We are particularly interested in people with lived experience of cardiomyopathies. Please get in touch if you would like to help.

• Professor Wendy Bickmore (IGC)
• Professor Joe Marsh (IGC)
• Professor Kenneth Baillie (IRR)
• Professor Mark Gorrell (University of Syndney)
• Professor Louise Wain (University of Leicester)
• Dr Thomas Craven (NHS Lothian)

• Medical Research Council
• Chief Science Office
• Academy of Medical Sciences
• Intensive Care Society