Danish researchers from three universities have analysed the genomes of fifty families and created access to very precise knowledge about how the genome of a healthy, average Dane looks. The new knowledge is called the Danish Reference Genome and it can increase our understanding of hereditary diseases and support the development of personalised medicine.

2017.08.10 | Henriette Stevnhøj

"Finding genetic variants that increase the risk of a mental disorder can also help give us a greater understanding of the biological mechanisms behind the disease, as the genes can put us on the right track," says Professor Anders Børglum.

Professor and Centre Director Anders Børglum from the Department of Biomedicine and the Centre for iSequencing at Aarhus University is one of the leading forces behind the GenomeDenmark project, which also includes the University of Copenhagen, the Technical University of Denmark and the Beijing Genomics Institute. Anders Børglum explains that the new reference genome can be used to strengthen personalised medicine for e.g. mental disorders, which is his own area of research. In future, he will be able to use the Danish reference genome to look up whether the genetic variant that he suspects is contributing to mental illness is completely normal among healthy Danes, or whether it deviates from the average. He will also be able to use it to examine the previously unknown variants and areas of the genome. In an article for videnskab.dk, he calls the reference genome “a very powerful tool”. 

"Finding genetic variants that increase the risk of a mental disorder can also help give us a greater understanding of the biological mechanisms behind the disease, as the genes can put us on the right track," says Anders Børglum.

An advanced mapping

The study was published in Nature on 26 July, and its inclusion in the prestigious journal is due to the special method used by the researchers to map the Danish genome. One of the main authors behind the publication, Professor Mikkel Heide Schierup from the Department of Bioscience, Aarhus University, tells videnskab.dk that the 150 Danes who have volunteered to take part in the study have had their genomes mapped down to the smallest detail with new and advanced methods: "Before our study, not that many people had actually had their genome mapped out from scratch. Maybe five or six people worldwide. We have now expanded that figure significantly by doing this for 150 people." Mikkel Heide Schierup explains that the special method has enabled researchers to carry out a far more complete genome mapping compared to what is normally seen in other studies. "When you normally use a reference to collect the genome, you cannot spot what the reference does not have. But with our method, we could find a great many variations in the genome that you would not otherwise be able to spot. The variation can be of great importance in the future – for example when we need to understand what gives the risk of disease," says Mikkel Heide Schierup.

Reference genome contributes to health

The work of finding the reference genome has been going on for five years, and the participants in the partnership are happy to see that national collaboration on a relatively modest budget – when compared to other international projects – can show the way forward and generate international attention. Project manager and professor at the Department of Biology, University of Copenhagen, Karsten Kristiansen says in a press release from the university:

“We see our approach as part of the basis for the precision medicine agenda and hope that the national funding bodies and government will exploit the opportunity to increase the Danish efforts in this area – to improve the future public health capture a health economics impact.”

From the third university in the partnership, the Technical University of Denmark, Professor Søren Brunak says:

“We know that further research is needed to establish causative relations between many of the new genotypes discovered and disease. However, due to the world-class Danish health registers and longitudinal studies, we are uniquely positioned to couple genomics and other types of health data large scale in Denmark. And we are heading that way, hoping to be able to keep our ambitions high.”

Søren Brunak is professor at both the Technical University of Denmark’s Department of Bio and Health Informatics and the Centre for Protein Research at the University of Copenhagen. 

Facts:

• Read more about the GenomeDenmark consortium and the Danish Reference Genome Project at www.genomedenmark.dk.
•  http://www1.bio.ku.dk/presserum/pressemeddelelser/faerdiggoerelsen-af-det-danske-referencegenom/ (Danish)
• The project is supported with DKK 86 million from the Innovation Fund Denmark.
• The scientific article is published in Nature: https://www.nature.com/nature/journal/v548/n7665/full/nature23264.html

Contact:

Professor Anders Børglum
Department of Biomedicine
anders@biomed.au.dk
T: (+45) 8716 7768

M: (+45) 6020 2720

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