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Cambridge Reproduction


For the past four years I have been coordinating a rapid whole genome sequencing (WGS) study in neonates and children admitted to Intensive Care Units, and those referred to Paediatric Neurology or Genetic clinics for diagnostic investigations. This successful research project implemented the newest genomic technology into acute clinical care as a first-line diagnostic tool for children where a monogenic rare disease was suspected. Our goals were to develop a suitable diagnostic pipeline for children and their parents, to offer a rapid diagnosis where this could affect clinical treatment or management options, and to create a long-term data set of families with rare diseases.

My current research is to explore the impact of such rapid, early testing and diagnosis in families admitted to neonatal and paediatric intensive care units from families’ perspective, with the aim to inform future genomic testing and policy in these populations.

My additional research interests include family adjustment to diagnosis in a child with intellectual disability and complex medical conditions, epilepsy, child development, bioethics, education, healthcare/public health and neuroscience.