Whole Genome Sequencing for Rapid Diagnosis of Severely Ill Children in Intensive Care
- Mon 11th Nov 2019
- Wolfson Lecture Theatre, Churchill College, Storey's Way, Cambridge, CB3 0DS
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Children in neonatal or paediatric intensive care units (N/PICU) commonly have an underlying genetic condition. The Next Generation Children Project (NGC) was established to achieve a rapid diagnosis via trio whole genome sequencing that would augment clinical decision-making and to establish appropriate criteria for such testing. We have completed analysis of >400 families. ~50% of eligible families consented to the study and ~90% provided a two-parent and child trio sample. We have identified the cause of disease in 30% of families and have shown the clinical value of a diagnosis. The talk will discuss the results to date and discuss the implications of genomic testing in paediatrics.
Professor Lucy Raymond, Department of Medical Genetics, University of Cambridge
Lucy Raymond is Professor of Medical Genetics and Neurodevelopment at the University of Cambridge and Honorary Consultant in Medical Genetics at Cambridge University Hospital, UK. Her research interest is understanding the genetic basis of disease and leads a number of collaborative efforts to identify the rare disease genes where intellectual disability, epilepsy or neurological conditions predominate.
The lecture will be preceded by a short presentation from a CSAR PhD Award Winner.
From plastic waste to hydrogen: a photocatalytic approach.
Taylor Uekert, Department of Chemistry, University of Cambridge