Project Code
PHS27Ex Wright
Project Type
Dry lab
Research Theme
Population Health Science
Project Summary Download
Summary
Many countries are now planning to sequence the complete DNA of babies at birth to screen for hundreds of genetic conditions. This PhD project will generate the evidence to inform which genes and variants should be included in newborn genome screening. Using large datasets from clinical and population cohorts, the student will analyse the prevalence and penetrance of variants associated with monogenic epilepsy and other neurodevelopmental disorders to expand our understanding of genotype-phenotype correlations in these conditions. This work will improve understanding of the risks associated with genetic variants, and guide which conditions should be included in newborn genome screening.
Can the project be completed part time?
Yes
Lead Supervisor
Professor Caroline Wright
Lead Supervisor Email
University Affiliation
University of Exeter
