This year's International KFJ Award from Rigshospitalet has gone to Professor Kari Stefansson; a pioneer within genetic large-scale population studies. When he began working on genetic data collection before the turn of the Millennium, he was literally and figuratively his own island in the north Atlantic. Geneticists were still working on a draft first human reference genome, and everything in his strategy was new for the rest of the world.
Through his company, deCODE genetics, he invited tens of thousands of volunteers to participate in research into the significance of genes for various public health problems. It became the world's first and to this day most extensive national genome project.
Kari Stefansson and his large, internationally recognised team at deCODE genetics have been key in getting Rigshospitalet started on large-scale genetics, and today the company is an important partner in the hospital's strategy to develop personalised medicine for the Danish population.
- DeCODE genetics' unique competences, extraordinary capacity for genetic analyses and longstanding insights into genetic research make deCODE genetics an important collaboration partner, explained Professor Henrik Ullum from the Department of Clinical Immunology at Rigshospitalet.
Together with many of his colleagues, he nominated Kari Stefansson for the award.
- You only need to take one look at Kari's list of publications to get an idea of how groundbreaking he has been in the development of human genetics. Our collaboration with deCODE genetics means that we're now able to conduct huge research projects with large volumes of data to benefit patients in the future, said Henrik Ullum.
Can revolutionise treatment of the future
Kari Stefansson sees this research collaboration as a way to much better and more effective prevention and treatment, adapted specifically to the individual patient.
- Whole genome sequencing and large-scale proteomics will inevitably revolutionise the way we conduct medicine within just a few years. This will be possible through the kind of research we're conducting in collaboration with Rigshospitalet. Being able to conduct research with Rigshospitalet is a privilege, and the KFJ Award is an indication that our Danish-Icelandic collaboration has come off to a good start, said Kari Stefansson.
He is the founder, president and CEO of deCODE genetics and a professor at the Faculty of Medicine at the University of Iceland.
Kari Stefansson has published more than 650 articles, including nine in Science Magazine, 11 in the New England Journal of Medicine, 27 in Nature and 172 in Nature Genetics.
When Kari Stefansson founded deCODE genetics in 1996, no one was talking about precision medicine. Since then, his work has led to discoveries that have been developed into specific methods to assess the risk of scores of common, possibly preventable diseases, ranging from cardiovascular diseases to cancer. These discoveries have also led to major drug development projects.
Thousands of analyses
Since 2018, Kari Stefansson and deCODE genetics have conducted GWAS analyses on 200,000 patient samples from the Copenhagen Hospital Biobank and 110,000 samples from the Danish Blood Donor Study (DBDS), allowing large-scale genetics research at Rigshospitalet. This has inspired a number of research initiatives across the hospital.
The research collaboration between Kari Stefansson, Henrik Ullum and Professor Søren Brunak from the University of Copenhagen provides a unique platform at Rigshospitalet to develop personalised medicine based on existing biobank samples (retrospective data), a big data platform, GWAS analyses, and imputation based on a pan-Nordic reference genome. The platform is open for new projects and has led to collaboration with other researchers at Rigshospitalet, where knowledge is being shared and data analysed in several ambitious projects involving experienced clinical researchers as well as young researchers.
In 2019 alone, the following projects within large-scale genetics were launched at Rigshospitalet:
Henning Bundgaard and Søren Brunak: Focusing on ischaemic heart disease, they are developing a decision support algorithm that defines patient risks based on phenotype and genotype (PM-HEART).
Henrik Ullum and Lars Køber: Focusing on iron deficiency and heart failure, they are identifying high-risk patients with a need for intensified treatment based on genetics.
Pär I. Johansson: Focus on acute critical illness and endothelial function.
Sisse Ostrowski: Focus on immune function, blood transfusion complications, surgery and haemorrhage based on genetic profiles.
Anders Juul and Henriette Svarre Nielsen: Research into 'reproductive health' (including male and female fertility, puberty disorders, pregnancy loss and birth complications) as an expression of gene-environment interactions.
Søren Jacobsen: Research into genes, environment and disease patterns reveals risk factors and prognosis in patients with rheumatic autoimmune diseases, systemic autoimmunity, rheumatoid arthritis and lupus.
Thomas F. Hansen, Jes Olesen and Rigmor Jensen: Research into migraine and headaches, pharmacogenetics and treatment results in migraine patients.