Serena Ni-Zainal, NIHR Research Professor of Genomic Medicine and Bioinformatics at the University of Cambridge, exemplifies how clinician scientists can take original discovery research through to clinical translation in an extraordinarily rapid way.
She undertook research training exploring cancer using whole genome sequencing technology, one of the first to do so. She developed innovative principles from WGS data, including the mutational signatures concept and advancements thereof, phylogenetic construction of single samples, and discovered the localised hypermutation phenomenon called kataegis.
As an NHS consultant, she has an astute awareness of hurdles to mainstreaming genomics and is already implementing her tools into NHS bioinformatic pipelines. Now she works alongside Genomics England, NHS England and UKRI to improve clinical research infrastructure, exploring federation analytics to accelerate translation of discovery genomics towards the clinic.