Assoc ProfessorCormac McCarthy

I am a clinician-scientist and Associate Professor of Medicine at University College Dublin with a specific interest in the pathogenesis, diagnosis, and clinical management of rare lung diseases and interstitial lung disease. My research programme is focused on translational respiratory medicine, with particular emphasis on diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH), pulmonary alveolar proteinosis (PAP), diffuse cystic lung diseases including lymphangioleiomyomatosis (LAM), and fibrotic interstitial lung disease. I have a longstanding interest in the molecular pathogenesis of lung disease, including the glycobiology of plasma proteins, cholesterol homeostasis in alveolar macrophages, lipidomics in the lung, and the application of biomarker and imaging approaches to improve disease classification, monitoring, and treatment.

My translational research has contributed substantially to understanding the pathogenesis of PAP, identifying therapeutic targets, defining disease epidemiology, and improving diagnostic approaches. I have published on the prevalence and healthcare burden of PAP, demonstrating that it affects approximately seven individuals per million, and have contributed to international diagnostic and clinical resources for this syndrome. My work has highlighted the value of appropriate diagnostic blood testing for autoimmune PAP and has investigated novel imaging approaches to quantify disease burden and response to therapy. Mechanistically, I have investigated the role of macrophage cholesterol homeostasis in PAP pathogenesis and contributed to the identification of novel therapeutic strategies, including repurposing statin and pioglitazone-based approaches, which have helped inform ongoing translational and clinical trial activity in this rare disease.

A major current focus of my clinical and translational research is DIPNECH, an under-recognised rare lung disease with substantial unmet need in diagnosis, classification, disease monitoring, and treatment. I have helped move the field beyond isolated case descriptions towards systematic clinical characterisation, radiological biomarker development, and mechanistic investigation. Through major collaborative and consortium-based efforts, I have contributed to defining the clinical characteristics of DIPNECH, developing quantitative CT-based approaches to airway assessment, and investigating the biology of pulmonary neuroendocrine cell pathology, including mTOR pathway activation. This work has advanced understanding of DIPNECH as a clinically significant and biologically active rare lung disease and provides a foundation for future biomarker-driven studies, trial readiness, and therapeutic development.

My clinical research also focuses on diffuse cystic lung diseases, particularly LAM. I established a National Cystic Lung Disease Referral Centre for Ireland and care for a large cohort of patients with LAM and related cystic lung disorders. I am developing national registry-based approaches in this field, including work with Irish and international collaborators, to improve disease phenotyping, outcome measurement, and trial readiness. My publications in LAM and diffuse cystic lung disease include major reviews, original studies, imaging biomarker research, and clinical guidance intended to improve recognition and management of these rare disorders.

I have significant experience in rare disease clinical and translational research, supported by advanced fellowship training through the NIH-sponsored Rare Lung Disease Consortium and formal rare disease research training through the Rare Diseases Clinical Research Network. I currently serve as National Lead for ERN-LUNG Ireland, Director of the Academic Centre for Rare Diseases at UCD, Deputy Director of the UCD Clinical Research Centre, and Chair of the European Respiratory Society Assembly 12.4, Rare ILD/DPLD. These roles allow me to integrate clinical care, translational discovery, registry development, biomarker research, and investigator-led trials across national and international networks. My experience in rare lung disease biology, clinical phenotyping, imaging, and research infrastructure positions me well to lead and contribute to studies focused on improving diagnosis, understanding mechanisms, and developing new therapeutic strategies for rare and diffuse parenchymal lung diseases.