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Human Genetics and Genomics Medicine

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

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


  • Understanding how changes in DNA alter our response to therapeutic drugs


  • 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