Research and innovation

£46.3m funding boost to shine light on dark genome

Research into how people’s genetic code can influence health and disease – including the vast regions of DNA whose function is unclear – has secured major financial investment.

DNA labelled within a zebrafish embryo
DNA labelled within a zebrafish embryo

Scientists at the University of Edinburgh will receive £46.3 million from the Medical Research Council (MRC) to support ongoing activity at the MRC Human Genetics Unit. 

The five-year funding will include advancing research into the so-called dark genome – the underexplored 98 per cent of people’s DNA which may provide new insights into complex genetic diseases, experts say. 

Scientists will employ collaborative research and new techniques to explore these understudied areas to further our understanding of human genetic disease, project leaders say.  

Dark genome 

Since the human genome was first sequenced in 2003, research has mainly focused on parts of DNA that contain instructions for making proteins – the fundamental building blocks of all organisms. However these account for only two per cent of the three billion letters of the human genome.  

The MRC funding, which represents a significant investment in UK genomics research, will enable scientists to focus on the remaining parts of DNA.  

Once thought of as ‘junk’ DNA, experts now believe that the dark genome has a crucial role to play in the development of a number of diseases, including cancer, by controlling how, when and where genes are switched on or off. 

Combined expertise 

The investment will support a full programme of research at the MRC Human Genetics Unit at the University’s Institute of Genetics and Cancer, to investigate how our genomes work to control the function of molecules, cells and tissues in people and populations.  

The funding will also boost training, encouraging those from a range of scientific backgrounds, including mathematics and computational science, to train in biomedicine, providing different perspectives to encourage innovation. 


It’s exciting that we now have so much human genome sequence data, but we need to turn that data into knowledge about how our genome works in health and disease. This new funding will enable us to tackle that challenge together, harnessing experimental and computational expertise to better understand, manage and treat disease and, ultimately, improve the lives of people living with genetic conditions and cancers.

Professor Wendy BickmoreDirector of the MRC Human Genetics Unit, University of Edinburgh


There are major questions to answer in genetics and genomics research, including how variation in the non-coding genome regulates health and disease, and it is vital that we further our understanding in this complex area and underpin the development of new diagnostics and therapies. We are delighted to be supporting the innovative research at the MRC Human Genetics Unit to continue addressing these important questions over the next 5 years.

Dr Megan DowieMRC Head of Molecular and Cellular Medicine

Related links 

MRC Human Genetics Unit 


Image Credit: Julia Auer