Miriam Fleur Moffatt - Biography#

Miriam Moffatt holds the position of Professor of Respiratory Genetics within the National Heart and Lung Institute, Imperial College London. She has authored more than 180 articles, many in the top ranked genetics and respiratory journals, including Nature, Nature Genetics and the New England Journal of Medicine. Miriam's work has amassed over 23,000 citations and she has an H-index of 57.

After gaining a BSc (Hons) in Microbiology and working for the Society for General Microbiology (now the Microbiology Society) both whilst in The University of Reading, Miriam moved to The University of Oxford and commenced her investigations into the genetics causes of asthma and eczema. Whilst at Oxford, she started to work with Professors William (Bill) Cookson and Julian Hopkin and registered and subsequently attained (whilst working as a research scientist) her doctorate from the University of Oxford.

With Professor Hopkin moving to Swansea and a highly productive synergistic research partnership (of equals) between Miriam (a Scientist) and Bill (a Clinician Scientist) established and well-recognised, she has continued to work in the field of genetics and genomics for the past 31 years primarily focusing her research on respiratory diseases notably asthma and mesothelioma. In recognition of their successful partnership, in 2011 Miriam was the first recipient of a Joint Wellcome Trust Senior Investigator Award along with Bill Cookson.

Miriam led the first microsatellite screen for asthma associated traits (Nature 1996) and the positional cloning of DPP10 and SETDB2 (both Nature Genetics 2003) pre-completion of the human genome sequence. They were the first to carry out a genome wide association study (GWAS) for asthma and the first to use eQTL mapping of global gene expression, identifying ORMDL3 as the major asthma locus on chromosome 17q21 (Nature 2007, Nature Genetics 2007). They subsequently led the International GABRIEL consortium GWAS (New England Journal of Medicine 2010) and the Transnational Asthma Genetics Consortium meta-analysis of asthma GWAS (Nature Genetics 2018). These large studies distinguished between the genetics underpinning childhood and adult onset disease; confirmed the primacy of the 17q21 locus; identified other important asthma loci; and highlighted the central role of mechanisms that signal from the epithelium to the adaptive immune system.

Their further investigations highlighted ORMDL3 effects on the expression of ICAM1 (the receptor for human rhinovirus, HRV), providing a mechanism for the strong impact of the locus on common HRV-induced asthma exacerbations (AJRCCM 2018). They then went on to conduct the first epigenome wide association study of IgE, discovering that CpG methylation status of IL5-RA and other markers of eosinophil activation to be a central event of atopic asthmatic inflammation (Nature 2015). These findings are of particular importance in light of the fact that new biologics against IL5-RA are a current focus of asthma treatment.

Miriam (with Bill) was the first to show that the normal human airway possesses a microbial community that differs significantly between health and diseases such as asthma and COPD (PLoSOne 2010). Primarily under Miriam’s leadership their group have established pipelines to investigate bacterial and fungal microbiota (BMC Biol. 2014), using these to work collaboratively with many clinical colleagues to characterise the respiratory microbiome in a range of conditions including severe asthma (PLoS One 2016), Idiopathic Pulmonary Fibrosis (AJRCCM 2014, 2017), Chronic Suppurative Lung Diseases (ERJ 2013, PLoSOne 2018, Sci Rep 2019), Non-tuberculous Mycobacterial Disease (PLosOne 2018) and Community Acquired Pneumonia (Sci Rep 2019).

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