Scottish researchers investigating how people’s genetic code can influence their health and wellbeing have secured ‘major financial investment’ to support ongoing work to uncover the role of DNA in disease development.

Researchers from the University of Edinburgh are set to receive £46.3m from the Medical Research Council (MRC) to continue work at the MRC Human Genetics Unit exploring the human genome.

The Edinburgh researchers are looking to better understand the human genome’s role, including regions of DNA whose function is unclear.

This five-year funding will support advancing research into the underexplored 98% of people’s DNA – known as the ‘dark genome’ – with the hope of uncovering new insights into complex genetic diseases.

The project leaders explain new techniques to investigate these understudied areas and improve understanding of human genetic diseases will be underpinned by collaborative research.

Professor Wendy Bickmore, Director of the MRC Human Genetics Unit at the University of Edinburgh, said:

“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.” 

The human genome was first sequenced in 2003 and since then research has primarily focused on DNA that contains instructions for making proteins which form the ‘building blocks’ of all organisms.

As these areas of DNA only account for 2% of the three billion long sequence that forms the human genome, the Edinburgh team will focus on the potential of the remaining DNA.

This ‘significant investment’ will help researchers deliver a programme of work across the MRC Human Genetics Unit at the University of Edinburgh’s Institute of Genetics and Cancer, investigating how genes modify the function of people’s molecules, cells and tissues.

Once considered to be ‘junk’ DNA, experts now believe the wider profile of the genome plays a crucial role in the development of a number of diseases, including cancer.

Dark matter of the genome

Speaking with healthandcare.scot at an Academy of Medical Sciences event, Professor Bickmore shared that her work on “dark matter of the genome” involves examining these switches that allow biological processes to be activated or deactivated in the body.

Professor Bickmore said that Scotland’s Rare Diseases Plan  – including its rare medicines approval pathway – is a positive development. However, she highlighted the need for more genome work across Scotland.

Now with the almost £50m investment, the Edinburgh team can continue studying how genomes work and investigate the operation of the ‘dark genome’ to control how, when and where genes are switched on or off.

The MRC funding will also improve training and engage those from a range of scientific backgrounds in biomedicine, to bring new perspectives from areas including mathematics and computational science to genome research.

In doing so, MRC aims to encourage innovation by collaborating across areas of research to help solve the “major questions” in genetics and genomics research.

Dr Megan Dowie, MRC Head of Molecular and Cellular Medicine, said:

“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 five years.” 

Read more: New treatment for rare genetic condition approved; Chief Scientist calls for more research volunteers; Scots women at the forefront of medical sciences; Auditor General: Difficult choices for Scotland's NHS

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