Contact information
+44 (0)1865 222374
Research groups
Collaborators
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James Davies
Associate Professor of Genomics
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Hugh Watkins
Radcliffe Professor of Medicine
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Marella de Bruijn
Professor of Developmental Haematopoiesis
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Thomas Milne
Associate Professor of Haematology
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Andrew Wilkie
Nuffield Professor of Pathology
Damien Downes
BSc (Hons), MBA Candidate, PhD (Genetics)
Postdoctoral Researcher
Deciphering Diseases of the Dark Genome
Every one of us carries a unique copy of DNA - known as the genome. Most of the differences in sequence (generally single letter variants) are benign, while others give us our distinct characteristics such as eye and hair colour. Other variants are less harmless, increaing our risk of developing diseases like diabetes and even doubling our chance of dying from COVID-19.
These "risk variants" are generally found in regions of the genome that don't make proteins, sometimes called the dark genome. My research focuses on developing methods to dechipher how risk variants cause disease, then working with collaborators to apply these methods to a range of diseases with an aim of developing new therapies and treatments.
Key publications
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Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus
Journal article
DOWNES D. et al, (2021), Nature Genetics
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Defining genome architecture at base-pair resolution.
Journal article
Hua P. et al, (2021), Nature, 595, 125 - 129
Recent publications
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The chromatin remodeller ATRX facilitates diverse nuclear processes, in a stochastic manner, in both heterochromatin and euchromatin.
Journal article
Truch J. et al, (2022), Nat Commun, 13
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Natural and Experimental Rewiring of Gene Regulatory Regions.
Journal article
Downes DJ. and Hughes JR., (2022), Annu Rev Genomics Hum Genet
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A blood atlas of COVID-19 defines hallmarks of disease severity and specificity.
Journal article
COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. Electronic address: julian.knight@well.ox.ac.uk None. and COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium None., (2022), Cell, 185, 916 - 938.e58
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Dynamic Runx1 chromatin boundaries affect gene expression in hematopoietic development.
Journal article
Owens DDG. et al, (2022), Nat Commun, 13