Damian Smedley

Professor Damian Smedley is a Professor of Computational Genomics at Queen Mary University of London, affiliated with the William Harvey Research Institute's Clinical Pharmacology and Precision Medicine department. His research focuses on integrating clinical and model organism phenotype data to elucidate human disease mechanisms, particularly through initiatives like the International Mouse Phenotyping Consortium (IMPC) and the MorPhic project. He leads the development of the Exomiser software, a critical tool for prioritizing genetic variants in rare disease diagnostics, widely used in global projects such as the UK's 100,000 Genomes Project and NHS Genomic Medicine Service. His work bridges computational biology, genetics, and clinical translation, with collaborations spanning academia and industry.

Key research areas include genotype-phenotype associations, precision medicine, and federated machine learning applied to multiomics data. Funded by NIH, MRC, Horizon Europe, and Barts Charity, his team collaborates with institutions like the Berlin Institute of Health and the University of Colorado. Notable contributions include advancing diagnostic pipelines for rare diseases and understanding the role of missense variants in genetic disorders.

His group's work has been featured in high-impact studies, such as identifying novel disease genes through cross-species phenotype comparisons and optimizing variant prioritization algorithms. External collaborations include Prof. Peter Robinson (Berlin) and Dr. Chris Mungall (Lawrence Berkeley Lab), reflecting his global impact in computational genomics.