Professor Caroline Wright

About:

Caroline Wright is professor of Genomic Medicine at the University of Exeter, where she has worked since 2017. She was elected as a Fellow of the Academy of Medical Sciences in 2025. Her main expertise is the interpretation of rare genetic variants and using genome-wide sequencing data for diagnosing rare diseases. Caroline leads a Translational Genomics reseach team, and co-leads Rare Variants and Genomics of Rare Disease research meetings, is the Departmental and NIHR Exeter BRC co-lead for Genetics & Genomics, and is also Academic Director for the Rare and Inherited Disease NHS Genomic Network of Excellence. She previously worked at the Wellcome Sanger Institute in Cambridge (2011-2017), where she remains part of the management committee for the UK Deciphering Developmental Disorders Study. Prior to that, she worked at the PHG (Public Health Genomics) Foundation in Cambridge (2007-2011), where she was Head of Science.

Active research grants:

• Wellcome Discovery Award (PI): Primary Annotated Resources to Advance Discovery In Genomic Medicine (PARADIGM)
• MRC project grant (PI): Evaluating scientific and ethical approaches to newborn screening with whole genome sequencing using large-scale population cohorts
• MRC project grant (PI): Determining the role of untranslated regions of the genome in disease
• MRC project grant (co-I): Using whole genome sequencing to identify non-coding elements associated with diabetes and related traits across ancestries
• NHS Genomic Network of Excellence (co-I): Rare and Inherited Disease

Research Interests:

• Improving diagnostic variant filtering pipelines for rare disease, particularly for severe developmental disorders in children
• Understanding penetrance and modifiers of rare disease-causing genetic variants in population settings
• Analysing the effect of rare genetic variants on protein isoforms, structure, stability and function
• Assessing and advising on the scientific, ethical and policy implications of using new genetic technologies in screening
• Collaborative and interdisciplinary translational research in human genetics

Qualifications and Awards:

• FMedSci 
• PhD, MSci, MA (Natural Sciences, University of Cambridge)
• MA (Healthcare Ethics and Law, University of Manchester)