Functional Genomics of Complex Traits Dr Simon Biddie Senior Clinical Lecturer Contact details Email: simon.biddie@ed.ac.uk Research in a NutshellGenetic variation contributes to human traits and disease. Understanding the contribution of coding and non-coding variants to complex traits is a key challenge in genomics. We focus on inflammatory states, and lung pathologies. Lung injury caused by inflammation from pathogens such as bacteria and viruses (influenza and coronaviruses), can be severe, progressing to acute respiratory distress syndrome.The response to bacterial or viral infection varies between individuals with some having mild symptoms, while others progress to severe disease. Genetic variants associated with this complex trait has been uncovered by GWAS. One theme aims to undercover functional coding and non-coding genetic variants in inflammatory and infectious diseases, to decipher mechanisms driven by genetic variation. We utilise functional genomic approaches to dissect the transcriptional changes and dynamics of chromatin structure, and contribution of genetic variation in cell systems of inflammation. This utilises experimental and computational methods.Lung injury engages cellular repair mechanisms to promote regeneration but also causes deleterious signals that have acute and long-term health consequences. We aim to understand the pathways and genes regulating acute inflammation and subsequent repair. This theme utilises single-cell transcriptomics with molecular lineage-tracing in model systems of lung injury, coupled with pharmacological and genetically inducible perturbation systems.Severe organ injury can occur through many disease processes. Using genomic and ‘liquid biopsy’ based approaches, we are developing methods to understand the pathophysiological mechanisms in severe organ failure. This theme utilises patient-derived cell free nucleic acid analysis to decode organ and cellular injury across diverse diseases. These methods aim to improve the diagnosis, prognostication, and treatments in patients with critical illness. People NameRole Simon BiddieClinical LecturerGiovanna WeykopfPhD studentAlexis IoannouPhD student Key Publications Simon Biddie Research Explorer Profile Partners Wendy Bickmore (MRC HGU, UoE)Joe Marsh (MRC HGU, UoE)Kenneth Baillie (Pandemic Science Hub, UoE) Funders Medical Research CouncilChief Science OfficeAcademy of Medical SciencesIntensive Care Society Scientific Themes Functional genomics, genetic variation, gene regulation, chromatin structure, inflammation Technology Expertise High-throughput genetic screens, genome editing, computational biology and bioinformatics This article was published on 2024-09-23