Molecular Family Medicine Laboratory

In 2011, the CPF established an experimental laboratory that is being used to study the molecular and physiological mechanisms by which environmental, genetic, and epigenetic factors—individually and in combination—impact upon diseases that are treated in primary care.

The laboratory is equipped with state-of-the-art technology, including a Bio-Rad CFX384 real-time PCR machine, a Bio-Plex Suspension Array System and automated droplet digital PCR. The equipment is being used to identify genetic variants, epigenetic factors, and inflammatory biomarkers associated with metabolic and inflammatory diseases such as cancer, chronic mental disorders, type 2 diabetes, obesity, and cardiovascular diseases. Gene-environment interactions will be assessed by combining molecular data with demographic and medical data. 

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

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

Cardiovascular disorders: venous thromboembolism (blood clots in the veins)

Venous thromboembolism is the third most common cardiovascular disease. The most severe manifestation is fatal pulmonary embolism. Ten (10%) of the population have been affected by the age of 80 years. venous thromboembolism is caused by a complex interaction of genetic and acquired risk factors, and may under certain condition affect young people also.

Treatment is efficient but at the price of severe or even fatal bleeding. Therefore there is a need for risk assessment to identify those who will benefit most from treatment. Genetic and clinical risk factors have been used to stratify patients however, in a large proportion of patients no acquired or genetic risk factor is found even in those with family history of venous thromboembolism.

We therefore aim to identify and study potential novel predictors for primary and recurrent venous thromboembolism. The study may both result in better risk assessment and treatment of venous thromboembolism and elucidation of the pathogenesis of venous thromboembolism, which may help to design new therapeutic strategies for treatment of venous thromboembolism with fewer side effects. The results will thus be of importance not only for risk assessment and treatment in clinical practice but also for development of novel therapeutic agents.

Cancer

Cancer represents one of the main killers worldwide and early detection, before the clinical manifestation of the tumor has occurred, can help to save lives and minimize side effects of the often aggressive treatment that is given when the cancer has reached a more advanced stage.

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 will use droplet digital PCR which enable us to identify rare mutation found in the blood of cancer patients.

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 studies related to the CPF.

Samples collected for research purposes must by law be notified as sample collection to the Regional Biobanksregister and stored at a quality-assured biobank department. This own biobank department facilitates both scientists, who do not need to store samples, and for CPF Laboratory, have samples handy when on occasion be analyzed.

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