Damian Smedley
Professor Damian Smedley leads a Computational Genomics team at Queen Mary University London where his research focusses on the use of multiomics, clinical and model organism data to obtain novel insights into rare disease causes and mechanisms. His team is involved in translational aspects for a number of projects such as the International Mouse Phenotyping Consortium (IMPC). In collaboration with other members of the Monarch Initiative he has developed tools that utilise phenotype comparisons for candidate gene prioritisation, particularly for whole genome sequence interpretation of rare disease patients as in the Exomiser software suite.
Prof. Smedley served as Director of Genomic Interpretation at Genomics England from 2016-2018 and led the analysis of the impact of the 100,000 Genomes Project pilot on rare disease diagnosis in healthcare.
Sessions
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AI Agents for Rare Disease Diagnosis: Accelerating Variant Interpretation in Clinical Genomics27-Jan-2027AI-Enabled Diagnostics