Research themes

Explore the different areas on which our work focuses.

Our research themes include:

Rare diseases

recruiting cohorts of patients for genetic analyses
developing methods to assess high throughput genomic data
understanding how epigenetic changes and epigenetic regulation contribute to rare and complex disorders

detection of patterns of large and small scale somatic changes in the genome that give rise to cancers such as myeloid and peritoneal malignancies
understanding how inherited variation increases risk to various cancers (breast, blood) and myeloid malignancies

programming, software and statistical techniques to analyse and integrate large-scale genetic datasets including next generation sequencing  (NGS/WES/WGS/RNAseq), genome-wide association studies (GWAS), polygenic risk scores (PRS), Mendelian randomisation, network analyses,  and machine learning
developing and maintaining informatic pipelines to process, curate and interpret high throughput healthcare data

translational value of parallel short and long read DNA and RNA sequencing
modelling genetic variants of uncertain significance in model systems
understanding the complex interaction of the epithelial barrier with environmental challenges using 3D in vitro and tissue engineering models

promoting patient and population health is at the core of our research. We apply our research methods across a wide range of human diseases where a genetic basis is suspected but not well understood in order to improve diagnoses, predicting outcomes or informing best clinical interventions; these include very rare diseases without a genetic diagnosis, growth failure or abnormal growth syndromes, neurodevelopmental disorders, renal and ophthalmic diseases, aneurysmal subarachnoid haemorrhage as well as more common autoimmune disorders.

These include: