My research involves the study of pathogenesis and progression in a rare lung disease Lymphangioleiomyomatosis (LAM) in Professor Simon Johnson's group. Previously supported by the NIHR Rare Diseases Translational Research Collaboration and The LAM Foundation, USA, I am currently supported by The British Lung Foundation, UK and La Marato, Spain.
LAM is a rare lung and lymphatic disease which leads to cystic lesions in the lungs. LAM affects women and is caused by a defect in one of the two proteins associated with Tuberous Sclerosis, Tuberin and Hamartin. Utilising data collected from the current study we want to identify diagnostic and prognostic biomarkers in LAM and better understand why some women with LAM have stable disease for many years whilst others progress in a relatively short period of time.
Molecular and genetic mechanisms underlying Chronic Obstructive Pulmonary Disease (COPD), specifically the involvement of Advanced Glycosylation End Product-Specific Receptor (RAGE, 6p21).
COPD is a chronic disorder of the lungs which causes airway obstruction. This disease is a major cause of morbidity and mortality worldwide. It is estimated that 3 million people in the UK have COPD, which causes 30,000 deaths in the UK each year. Genome-wide association studies have shown an association with RAGE and lung function (Repapi et al., 2010. Nature Genetics 42, 36-44). By characterising the membrane and soluble forms of RAGE, we hope to idenitify RAGE's involvement in COPD in the hope of developing novel therapies for this debilitating and progressive disease.