AJ has both a professional and personal interest in rare disease, having multiple rare diseases in her immediate family. AJ is a Professor of Molecular Epidemiology and Public Health at Queen’s University Belfast where she leads a busy research team. AJ has identified molecular causes of disease, contributed to developing the UK model applying ethical standards to genomics initiatives, developed new approaches to data collection, designed and delivered many registries with associated bioresources, and developed novel analyses that improve outcomes for people living and working with rare diseases.
AJ co-leads government advisory groups improving the identification and treatment of rare conditions. As a member of the Rare Disease Quality Statements Steering Group, alongside colleagues representing Wales, Scotland, England, the National Institute for Health and Care Excellence, the James Lind Alliance, and the National Screening Committee, she is helping develop quality statements for rare disease. Together with Dr Suja Somanadhan from UCD, AJ co-leads the All Ireland RAre disease Interdisciplinary research Network (RAiN), and is a member of the RD-IMAG and RD research landscape groups. AJ lead’s NI’s contribution to the LifeArc Centre for the Acceleration of Rare Disease Trials, and the LifeArc-KRUK Centre for Rare Kidney Diseases. Keenly interested in supporting the next generation of researchers, AJ is training ~21 PhD students in rare diseases as part of the LifeArc Centre for the Acceleration of Rare Disease Trials Doctoral Training program with colleagues at Newcastle University and the University of Birmingham.
AJ was the inaugural chair of the Clinical Implementation and Data Enhancement community for Genomics England, which seeks to effectively integrate whole genome sequencing into the NHS.