Molecular Family Medicine Laboratory

The laboratory is equipped with state-of-the-art technology, including iSeq 100 Sequencing System for next-generation sequencing, a Bio-Rad CFX384 real-time PCR machine, a Bio-Plex Suspension Array System for protein biomarker research and automated droplet digital PCR.

The equipment is being used to identify genetic variants, epigenetic factors, and protein biomarkers associated with metabolic and inflammatory diseases such as cancer, chronic mental disorders, type 2 diabetes, obesity, and cardiovascular diseases.

Our focus right now is mitochondrial genetic and epigenetic changes, their interaction with nuclear genome, and mitochondrial dysfunction in chronic diseases and aging.

The lab also has a fully functional cell culture facility for functional/mechanistic analysis of identified biomarkers. Gene-environment interactions are assessed by combining molecular data with demographic and medical data.

The goal of our research is to identify diagnostic and prognostic biomarkers for common chronic diseases such as cardiovascular diseases, cancer, type 2 diabetes mellitus; mental disorders etc. We use clinical samples such as serum/plasma, biopsies and whole blood for analysis and large databases, which include clinical information on patients.

Below are the examples of three major ongoing projects in the lab.

Cardiovascular disorders: Abdominal aortic aneurysm (AAA)

This is a collaborative project between our laboratory at the Center for primary health care research and the Department of medicine Skåne university hospital (SUS).

Abdominal aortic aneurysm (AAA) is a serious disease in which aortic dilatation may progress to rupture with a mortality rate of over 80 percent. Insufficient knowledge of AAA pathophysiology makes it difficult to develop specific diagnostic-prognostic tools and therapies. Oxidative stress (over-production of free radicals) has been implicated in various cardiovascular diseases; however, it is still not well-characterized in AAA.

Through our published and preliminary research, we have identified factors in AAA related to oxidative stress. In this study, by using high-throughput and functional approaches, along with well-defined clinical cohorts, we investigate these candidate factors and their interaction(s) in AAA risk and growth. Endogenous and exogenous factors contributing to oxidative stress are mostly modifiable, an in-depth disease-specific characterization of these factors has a potential for tailored clinical translation.

Our goal is to develop an integrative model combining genetic, environmental and clinical factors for risk stratification to guide improved screening and follow-up strategies for AAA.

Cancer

Earlier clinical detection of cancer may improve survival as well as offer opportunities for less invasive treatment options. Recent studies indicate that molecular changes obtained through circulating tumor DNA (ctDNA), also known as liquid biopsy, can be detected earlier than the clinical cancer manifestation.

ctDNA harbors somatic tumor mutations, is continuously shed by the tumor cells into the circulation and can provide similar molecular information as that derived from invasive tumor biopsies. Thus, it has the potential to enable non-invasive diagnosis and prediction of cancer at an earlier stage.

Our major aim in this project is to identify cancer specific mutation in the blood and their potential as early diagnostic markers of cancer. We use next-generation sequencing (NGS) and droplet digital PCR, which enables us to identify rare mutations found in the blood of cancer patients.

Mental disorders

Approximately 15 percent of primary health care center attendees suffer from mental disorders in Sweden. Mental disorders have complex causes. Lifestyle factors play an important role in the development of mental disorders. Epigenetic events, such as DNA methylation, and miRNA regulation are associated with lifestyle factor influences.

Our aims in this project are to investigate the association between lifestyle factors and epigenetic changes, and the role of lifestyle factors associated with epigenetic changes in mental disorders.

Biobank Department

Since January 2012, the Center for Primary Health Care Research also has its own biobank department. It is thought that the biobank department should be a natural storage place for the samples included in various clinical studies in primary health care.

According to Swedish law, samples collected for research purposes must be notified as sample collection to the Regional Biobanksregister and stored at a quality-assured biobank department. This biobank department facilitates both scientists, who do not need to store samples, and for CPF’s Laboratory, to have samples handy for analyses purposes.