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.

Our main goal is 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 some examples of major ongoing projects in the lab.

Cardiovascular Disease Research

Cardiovascular diseases are the leading cause of death worldwide. Identifying individuals at high risk before symptoms appear is essential for effective prevention. Although current clinical risk assessments are valuable, they do not identify everyone who may develop cardiovascular disease.

Our research focuses on the role of genetics in heart health, with particular attention to mitochondria, the small structures inside cells that produce the energy needed for the heart to function normally. We have previously shown that changes in mitochondrial DNA may influence a person's risk of developing cardiovascular disease and affect how the disease progresses.

Using clinical samples from several large population-based studies, we investigate mitochondrial genetic variations that may be linked to cardiovascular disease risk and prognosis. By combining genetic information with long-term health data, we aim to gain new insights into the biological mechanisms underlying heart disease. 

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.

MSc students

We often have thesis projects for Master students within the projects conducted in our group. Please, contact Ashfaque Memon (ashfaque.memon@med.lu.se) or Kristina Sundquist (kristina.sundquist@med.lu.se) or Xiao Wang (xiao.wang@med.lu.se) for more details.