Fre 24 maj / År 42 / Nr 1 2024

A big step towards personalised medicine in epidemiology

The strategic research network EpiHealth at the Lund University is an example of how modern epidemiological research promotes large-scale population studies seeking to obtain knowledge about the mechanisms behind the most common chronic diseases. By understanding the underlying mechanisms of these diseases, researchers will have an opportunity to find new drug targets and alternative treatments based on the principles of personalised medicine.

In order to cure common chronic diseases we must first identify background factors linked to genes, lifestyle, behaviour, early life programming and the social situation of subjects at risk. For example, individuals with a similar genetic structure might develop diseases and respond to treatments very differently. Researchers linked to EpiHealth examine patterns for the development of common diseases such as cardiovascular diseases, type 2 diabetes and cancer, seeking the genetic associations and biomarker links for these diseases.

The need for extensive population studies
EpiHealth is a collaboration network between the universities of Lund and Uppsala. Over 200 researchers are active in the network, and the goal is to develop a centre of excellence for epidemiological research in Sweden. There is a strong tradition with a lot of knowledge and experience related to epidemiology and large cohorts with added biobanks in both Lund and Uppsala.
In addition, recent developments of the biobank network manifests that geographical nodes of the network will be established at all universities with a faculty of medicine in Sweden. Professor Peter M Nilsson, director of EpiHealth, is also responsible for the new BBMRI node in Lund, simultaneously managing a large-scale population study in Malmö in subjects aged 45 to 75 years supported by EpiHealth ( In Uppsala a similar screening study has been established and in total more than 11,000 subjects have been examined and blood samples stored in a biobank.
“In EpiHealth, we are looking for genetic associations and biomarkers of relevance for the most common and widespread chronic diseases such as cardiovascular diseases, diabetes and cancer”, Professor Nilsson explains. “One major challenge with the current medications available for common diseases such as diabetes is that the drugs do not always have the desired effect. We ask ourselves, why is it that some patients respond favourably to a specific drug and others do nott? Although it may be classified as the same disease, the treatment effect is different in different persons. This is because there are different subtypes of diabetes, and thus some mechanisms of the various diabetes subtypes differ. Therefore, different treatments are often required for different patients”.
The disease mechanisms are not possible to study solely by use of animal models. The task requires large population studies with hundreds, even thousands, of healthy volunteers to be followed up. Peter Nilsson clarifies: “The studies must in addition be conducted over a long period of time since we have to follow the individual performance during several years, taking into account both genetic and environmental factors, development over time and eventually the outcome of medical treatments”.
“For us to be able to learn about the development of the diseases, we need to know how patients respond to treatment. This is possible by using information collected in biobanks for DNA and biomarkers. If we can identify disease patterns and mechanisms for different individuals we are able, in the next step, to address issues such as who is likely to develop side effects of a certain drug and who is not. Then we are heading towards development of personalised medicine based on findings in epidemiology”, Peter M Nilsson explains.

Reducing the impact of common diseases
The Malmö Offspring Study (MOS), aimed to comprise 5000 individuals, is a new large-scale family study over three generations, seeking to identify mechanistic links between family history and common diseases. The five-year grant from the Swedish Research Council 2014-2018 enables the researchers to begin mapping the occurrence, development and behaviour influences on risk of common diseases in families.
Based on the knowledge accumulated in the study, new drug targets may be identified that match different genetic factors, biomarkers, disease patterns and lifestyle behaviour over time.
The long term goal is to reduce the impact of common chronic diseases and to help people stay healthy for a longer period of their life. The benefit to society is believed to be substantial, not least in terms of health care costs which are likely to be reduced.