DrClaire Shovlin

Professor of Practice (Clinical and Molecular Medicine), Respiratory/Specialist Physician, and Co-lead for the Social, Genetic & Environmental Determinants of Health Theme for NIHR Imperial Biomedical Research Centre, Claire has spent 5 decades distilling the wisdom and observations of patients, through concepts she developed at the Universities of Cambridge, Harvard and Edinburgh; observations from her exceptionally-broad clinical base; and experimental interrogation at Imperial, to answer three questions: Why are we different to each other? Why does health fluctuate? and How can this knowledge be applied to improve health?

Since her Presidential Lecture at the American Society for Hematology (1999), Claire's work delivering new knowledge, understanding, and clinical impact in rare diseases has been recognised by multiple national and international awards. She is the Lifetime Top Scholar for hereditary hemorrhagic telangiectasia; the 2025-2026 President of the Association of Physicians of Great Britain and Ireland, co-chairs the Implementation and Data Enhancement Community of Genomics England, and has delivered a new paradigm for all protein-coding DNA variants (Shovlin & Aldred, 2025).

Claire coined the term "Reverse Translation" for her method to deliver hypothesis-driven research that first defined a new disease (adult onset ADA deficiency, 1993), then delivered integrated understanding of the lungs and circulation with factors preventing whole body adaptation (2014), before she applied genomic and transcriptomic approaches to examine these processes at a cellular level. Appreciating the diversity of stresses perturbing health over a life course, and >10,000 protein-coding DNA variants per person, in order to provide tractable and novel approaches, she has focussed on the highest impact DNA variants that her rare disease studies had shown to operate differently in cells under stress, and stress response assays maintaining cells in endogenous protection states (Li...& Shovlin 2024). Just a small selection of her group's papers from the last 3 years (Joyce…& Shovlin 2022, Xiao…& Shovlin 2023, Bernabeu-Herrero…& Shovlin 2024, Bielowka...& Shovlin 2024) demonstrate the broad interdisciplinary collaborations and functional tools that are augmenting value from general genomics initiatives. Her group's major research programmes continue to include hereditary haemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformations (PAVMs): multiple high impact papers in the last 12 months are delivering new mechanistic understanding and therapeutic opportunities for these underserved conditions that affect more than 20,000 people in the UK, and approximately 2 million individuals globally.

Medically, Claire is a mainstream physician, best known clinically for leading her NHS Trust’s nationwide services for HHT and pulmonary AVMs where she leads NHS Rare Disease Collaborative Networks, and has ongoing face to face clinics, now in their 27th year, with generic-level digital support for queries via claire.shovlin@nhs.net. As a consultant she also ran a Respiratory TB Clinic for 10 years, and participated in acute on call and ward rotas for respiratory and general inpatients. These have provided further valuable, diverse insights for her role as Theme Co-Lead for NIHR Imperial BRC's SGE Theme, where she works with colleagues, patients and the public to optimise impact from genomics spanning generic disease-protective states, treatments, and drug safety (e.g. Jain….& Shovlin 2023, McCarley…& Shovlin 2023, Shovlin et al 2024, Shovlin & Aldred 2025).

Claire champions the opportunities of students, juniors and colleagues to deliver impact in their own disciplines by generating confidence and capability in the handling of data and impactful genomic variation, particularly inspiring those who also seek to dovetail careers with bringing up children.