About:

Caroline Wright is Professor of Genomic Medicine at the University of Exeter, where she has worked since 2017. Her main research expertise is in the use of genome-wide sequencing technologies for the diagnosis of rare diseases. Caroline co-leads Rare Variants and Genomics of Rare Disease research teams, 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, where she remains part of the management committee for the UK Deciphering Developmental Disorders Study and translational lead for DECIPHER. Prior to that, she was Head of Science at the PHG Foundation in Cambridge.

Research Interests:

Caroline's research involves collaborative, interdisciplinary translational research in four main areas:

1. Improving diagnostic variant filtering pipelines for rare disease, particularly for severe developmental disorders in children
2. Understanding penetrance and modifiers of rare disease-causing genetic variants in population settings
3. Analysing the effect of rare genetic variants on protein isoforms, structure, stability and function
4. Assessing and advising on the scientific, ethical and policy implications of using new genetic technologies in screening

Qualifications:

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