AJ has a keen interest improving the lives of those living with rare diseases, in particular improving diagnosis, communication, and care pathways.
She is a Reader at the Centre for Public Health, QUB with inherited disease research laboratories embedded within NI’s Regional Genetics Centre. AJ participates on the board of directors for the NI Rare Disease Partnership, helped develop the NI rare disease implementation plan, is part of the Northern Ireland Rare Disease Stakeholder Group, and is rare disease research lead for the recently funded NI Genomic Medicine Centre.
AJ’s research team primarily use state-of-the-art tools to identify genomic risk factors for human diseases, plus investigate how each person’s genes interact with their environment.
Whole genome sequencing of >1,000 individuals for rare diseases is underway as part of the NI Genomic Medicine Centre, with complementary ‘multi-omic’ analyses helping to improve the speed and accuracy of diagnosis for local individuals with rare diseases. Moving beyond standard genetic tests provides extra information that increases the opportunity for us to discover the cause of an individual’s disease, alongside learning more about the underlying biology and treatment options for each disease. We hold several registries and are actively engaged in making maximal use of complex genomic information.