Damien Downes

BSc (Hons), MBA Candidate, PhD (Genetics)

Postdoctoral Researcher

How do you fold a genome?

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

Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains.
Journal article

Oudelaar AM. et al, (2018), Nat Genet, 50, 1744 - 1751
Tissue-specific CTCF-cohesin-mediated chromatin architecture delimits enhancer interactions and function in vivo.
Journal article

Hanssen LLP. et al, (2017), Nat Cell Biol, 19, 952 - 961

Recent publications

High-resolution targeted 3C interrogation of cis-regulatory element organization at genome-wide scale.
Journal article

Downes DJ. et al, (2021), Nat Commun, 12
Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.
Journal article

Scott C. et al, (2020), Haematologica, Online ahead of print
Genetic and functional insights into CDA-I prevalence and pathogenesis.
Journal article

Olijnik A-A. et al, (2020), J Med Genet
DOT1L inhibition reveals a distinct subset of enhancers dependent on H3K79 methylation.
Journal article

Godfrey L. et al, (2019), Nat Commun, 10

More publications