Professor Colin Semple is a leading researcher at the University of Edinburgh's Institute of Genetics and Cancer (IGC), where he serves as Group Leader and Head of Bioinformatics. His work is conducted within the MRC Human Genetics Unit, focusing on computational genomics and the analysis of structural mutations in both germline and cancer contexts. Professor Semple's research investigates the origins and impacts of structural mutations in the human genome, with particular emphasis on how these alterations affect gene function in developmental contexts and drive cancer progression. His group studies complex structural rearrangements in challenging cancer types including ovarian cancer, glioblastoma, and mesothelioma, where tumor genomes undergo dramatic reorganization. The research is guided by four key questions: What are the origins of structural mutations? How do they impact gene function? How does structural complexity drive disease progression? How do diverse mutational constellations combine to create adaptations and vulnerabilities? Analysis of Professor Semple's publications reveals a consistent focus on structural variation in cancer genomics, with particular attention to ovarian cancer mechanisms, lesion segregation in tumor evolution, and the functional consequences of genomic rearrangements. His work frequently employs whole genome sequencing approaches to uncover previously hidden layers of genomic variation that affect more of the genome than traditional short variants. Professor Semple leads a substantial research team including bioinformaticians and PhD students, and oversees the Bioinformatics Analysis Core which provides collaborative expertise to over 500 researchers at the IGC. His group maintains strong collaborations with both local researchers at the University of Edinburgh and international consortia, working closely with clinicians to translate genomic findings into potential diagnostic and therapeutic approaches. The Semple Lab is funded by major organizations including the Medical Research Council (MRC), Cancer Research UK (CRUK), and the Chief Scientist Office (CSO).
