About
Sarah Ennis - Professor of Genomics at the University of Southampton, has worked in the field of genetic epidemiology for over 20 years; runs the Human Genomic Informatics (HGI) Group dry laboratory specialising in the analysis of NGS data in clinical cohorts; and has published over 200 papers with focus on underpinning the molecular genetic basis of human rare and common disease. Sarah is chief investigator of cohort studies recruiting NHS patients and leads projects analysing Genomics England and UKBioBank data. Projects include optimisation and cleaning of digitally extracted NHS data, execution of contemporary sequencing of DNA and RNA from patient samples and integration of data from multiple ‘omic sources using machine learning approaches to inform clinical management. In her role as Research Director for the Genomics Medicine Service Alliance, she facilitates clinical research pathways to optimise patient genomic data for better health outcomes. Sarah is theme lead for Human Genetics and Genomic Medicine in the school of Human Development and Health.
Sarah Ennis holds several significant external roles that extend her impact beyond the University of Southampton:
- She is Research Director within the Central and South Genomic Medicine Service Alliance, a national body that oversees the implementation of genomic testing pathways across the NHS, ensuring the integration of genomic data into clinical care
- She serves as Chief Investigator on multiple NIHR portfolio studies, leading large-scale clinical research projects that recruit thousands of patients and families to advance genomic medicine
- She also holds an honorary NHS contract, working closely with clinical teams across various NHS Trusts to bridge research and clinical practice
Research
Research groups
Research interests
- Inflammatory Bowel Disease
- Big Data
- Genomics
- NGS for Clinical Diagnostics
- Rare Diseases
Current research
Professor Sarah Ennis’s current research focuses on the application of advanced genomic technologies to understand the genetic basis of complex and rare diseases. Her work integrates whole genome and exome sequencing with clinical and transcriptomic data to uncover novel insights into conditions such as paediatric Crohn’s disease, rare developmental disorders, and various cancers including mesothelioma and lymphoma. She also explores the use of artificial intelligence and machine learning to enhance genomic data interpretation, with the goal of improving diagnosis, treatment response prediction, and personalized medicine strategies.
Research projects
Active projects
Completed projects
Publications
Teaching
Professor Sarah Ennis is actively involved in teaching at the University of Southampton, where she lectures in Biochemistry, Molecular Cell Biology, and Genomics as part of the BM5 Medical Degree Programme. She also teaches the Primer in Genomic Medicine and supervises PhD students, as well as undergraduate research projects. Her teaching is closely aligned with her research, offering students hands-on experience in cutting-edge genomic science and data analysis techniques.
External roles and responsibilities
Biography
Sarah graduated with a first-class honours degree in Biochemistry and in 2003 was awarded a PhD in Genetic Epidemiology from the University of Southampton. Leads the University of Southampton Human Genetics & Genomic Medicine Research theme and the Genomic Informatics research group. The group specialises in the analysis of genomic sequencing (NGS) data with projects including: interrogation of targeted and whole genome sequence data to determine cryptic causes of common and rare disease; large scale genomic data analysis, including clinical –‘omics data integration using artificial intelligence to better understand the genetic basis of rare and common disease for stratified medicine; the application of machine learning approaches for the analysis of paired and unpaired tumour sequence data.
Sarah holds an NHS contract, working closely with clinical colleagues across various NHS Trusts; Research Director within the Central & South Genomic Medicine Service Alliance; Co-I and Project Lead within the NHSE Genomic Artificial Intelligence Network (GAIN) of Excellence; Chief Investigator of NIHR Portfolio research successfully recruiting thousands of NHS patients. Bioinformatic lead for the Wessex GMC; Steering Committee for Southampton Biomedical Research Centre – Data, Health & Society theme; Project lead within Genomics England Research Communities; Founding Programme Lead for the University of Southampton MSc in Genomic Medicine and the HEE approved ‘Primer in Genomic Medicine’.