Speaker Profile

Ph.D., FRCPath, Chief Operating Officer, Congenica Ltd
Biography

Nick is a co-founder and chief operating officer of Congenica Limited, a genomic medicine company based at the Wellcome Genome Campus, Cambridge. Nick has worked in academia, industry and the UK national health service and has extensive experience in clinical diagnostics having been Director of the Genetics Service at Great Ormond Street Hospital for Children, London. Nick was awarded a personal chair in Medical Genetics at Cardiff University; he is currently an honorary reader in Genetics and Genomic Medicine at the UCL Institute of Child Health, London and a fellow of the Royal College of Pathologists. Nick has valuable business experience in start-up/SME commercial organisations as founding CEO, London Genetics Ltd and Genetics Director, Oxagen Ltd. Nick is an author of over 120 peer-reviewed publications and a named inventor on three patents.

Talk

Rare Disease Diagnosis – Shortening Odysseys, Improving Outcomes
SapientiaTM is a clinical decision support tool used by diagnostic genetics laboratories, Genomics England and Pharma-Biotech companies for the analysis of next generation DNA sequencing data. Case studies will be provided demonstrating key features of the software and its use in the successful diagnosis of patients with complex clinical phenotypes.

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