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The Hughes group is interested in how mammalian genes are regulated and how their deregulation is linked with human disease. The ~22 thousand genes in the mammalian genome are present in the DNA of every cell but are used in complex patterns in different cell types and organs.  This system to turn genes off or on, modulating their levels of activity in different cell types is central to maintaining the complex biological system that is a multicellular organism. 

What has become clear from large-scale genetic studies of human predisposition to common disease is that it is the control of the use of genes, rather than the genes themselves, that is frequently damaged.  It is now known that functional elements other that genes exist in our DNA and these elements act as molecular switches which interact with the genes and control their use, however the mechanisms involved are not well understood.  The Hughes group integrates both bench technologies and computational approaches to try and understand how these regulatory switches or enhancer elements work and how variations in their activity in our genomes leads to increased risk of developing common diseases, such as anemia, cancer, diabetes and autoimmune diseases.

The group has a track history in the development of novel genomics technologies as well as computational approaches.  The group has a molecular biology arm that is expert in next-generation sequencing based genomics and a purely computational arm which forms part of the WIMM CCB computational unit, with many lab members working in both areas.   Due to this structure, the group is highly multi-disciplinary, including people from diverse backgrounds and skill sets, from nucleic acid chemistry, biochemistry and molecular biology to bioinformatics, deep neural networks and JavaScript programmers and is always keen to incorporate new approaches from different fields to help answer its central questions.