Advances in Biosciences Seminar Series - Professor Damian Smedley, Queen Mary University of London. Title: Rare disease diagnostics and gene discovery
| Dates: | 29 April 2025 |
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| Times: | 13:00 - 14:00 |
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| What is it: | Seminar |
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| Organiser: | Faculty of Biology, Medicine and Health |
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| Who is it for: | University staff |
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| Speaker: | Damian Smedley |
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Join the Division of Molecular and Cellular Function (MCF) for the Advances in Biosciences Seminar Series, the speaker is Professor Damian Smedley, Queen Mary University of London.
Hosted by Dr Kathy Hentges.
Title: Rare disease diagnostics and gene discovery
Abstract: Whole genome and exome sequencing (WES/WGS) approaches have revolutionised diagnostics for rare genetic diseases over the last decade. However, identifying the causative variant(s) from amongst the millions of variants in a WGS remains challenging and more than half of patients remain undiagnosed, even after state-of-the-art WGS and analysis. I will describe the work of my team and collaborators in the Monarch Initiative to utilise clinical and model organism phenotype data to facilitate this task and open-source software approaches such as Exomiser that we have developed for the rare disease community. Our experiences of translating these approaches with Genomics England for the 100,000 Genomes Project and NHS Genomic Medicine Service will be presented. Finally, I will describe our current approaches to helping the many patients that remain undiagnosed from the 100,000 Genomes Project through a combination of reanalysis, multi-omics approaches and disease-gene association discovery.
Bio: “Professor Damian Smedley leads a Computational Genomics team at Queen Mary University London where his research focusses on the use of phenotype data to obtain novel insights into 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 has led the analysis of the impact of the 100,000 Genomes Project pilot on rare disease diagnosis in healthcare.”
Speaker
Damian Smedley
Role: Professor
Organisation: Queen Mary University of London
Travel and Contact Information
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Michael Smith Lecture Theatre
Michael Smith Building
Manchester
