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
Cancer
- 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
Bioinformatics
- 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
Population genetics and statistics
- Large cohort analyses (for example Genomics England, UKBioBank etc)
Functional Genomics
- 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
Pharmacogenomics
- Understanding how changes in DNA alter our response to therapeutic drugs
Multiomics
- Using artificial intelligence to uncover cryptic patterns in data
Disease areas
- 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.
Current diseases and cohorts
These include:
- young onset breast cancer (POSH)
- aneurysmal subarachnoid haemorrhage (aSAH, HATCH consortium)
- soft tissue sarcomas (rhabdomyosarcoma and liposarcoma)
- neuroblastoma
- pancreatic cancer and myeloid cancers (CML, MPN/MDS)
- splicing and disease
- inflammatory bowel disease