Publications

Our Centre helps leading researchers and clinicians from across the UK to collaborate and share expertise more easily. Together, they are working to discover, develop and deliver new ways of diagnosing and treating rare respiratory diseases.

Interstitial lung disease and the STING pathway

Velu PP, Zhu G, Mackenzie KJ

Journal of Clinical Investigation, June 2026

mTOR dysregulation induces IL6 and paracrine AT2 cell senescence impeding lung repair in lymphangioleiomyomatosis

Babaei-Jadidi R, Clements D, Wu Y et al.

Nature Communications, October 2025 

Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm

Shakur A, Stewart GD, Sadler TJ et al.

Insights Imaging, August 2025  

Inherited predisposition to pneumothorax: Estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts

Yngvadottir BRichman LAndreou A, et al.

Thorax, April 2025

Revisit the Roadmap for Rare event through a gallery of pictures from the day

mTOR pathway diseases: challenges and opportunities from bench to bedside

Mantoan Ritter L, Annear NMP, Baple EL et al.

Orphanet Journal of Rare Diseases, May 2025

Utility of presenting features to differentiate between rare cystic lung diseases

Avoseh M, Pang YL, Marciniak SJ, Stewart ID, Johnson SR

Annals of the American Thoracic Society, May 2025

Characterisation of primary ciliary dyskinesia model generated from BMI1 transduced basal epithelial cells

Dalbay MT et al.

Journal of Cell Science, October 2025

Revisit the Roadmap for Rare event through a gallery of pictures from the day

Familial pulmonary fibrosis: a UK consensus framework for the investigation and management of patients and their relatives

Bowden AR, Morris-Rosendahl DJ, Hanson H, et al.

Thorax, September 2026