Biobanks: Finding the roots of disease inside us

The EpiHealth Cohort is a large-scale Swedish research study that aims to understand how common diseases arise as from the interaction between genetics and lifestyle.

Researchers are finding ever more links between genes and disease, but the connections are rarely simple. While there are a few disorders caused by a single genetic change, most are complex interplays between an individual's genetics and his or her lifestyle. The Strategic Research Area (SRA) EpiHealth (Epidemiology for Health), a collaboration between Lund University and Uppsala University, is looking in a new population-based study cohort (the EpiHealth Cohort) at the links between genes, diet and behaviour in the diseases of middle-aged and older adults, including cardiovascular disease, osteoporosis, cancer, dementia, depression, lung disease, diabetes, obesity, and bone and joint disorders.
"There have been so many incorrect links made between risk markers and disease. Modern genetics and population-based studies can help us to see the true causality and mechanisms, and provide the starting point for new drug development," says Peter M Nilsson, SRA EpiHealth coordinator and professor of Clinical Cardiovascular Research at Lund University.
SRA EpiHealth is sponsored by the Research Council Sweden and has over 200 researchers in its network.

Cohorts for studies
Epidemiological studies use cohorts – groups of people with something in common – to be able to tease out the effect of genes and lifestyle. These can be population-based, tracking the changes involved as people move from health to disease, across an entire population. They can also be cohorts of patients diagnosed with specific diseases, such as cardiovascular disease or cancer, which follow the progress of the disease, the impact of treatment, and the prognosis.
The SRA EpiHealth network is involved in both historical cohorts, which reflect people's lifestyle in previous time periods, and modern cohorts. One example is the Malmö Offspring Study (MOS). The Malmö Diet and Cancer (MDC) cohort tracked around 28,000 people in the 1990s. In 2013, a pilot study invited the children and grandchildren of around 6000 of the MDC cohort to take part in a follow-up cohort study, creating MOS. This now involves around 15,000 children and grandchildren, of whom around 2500 have participated in the screening up until now.
"Some diseases cluster in families, but are only partly explained by genetics, which is known as the “missing heritability”. This could include influences of early life, programming, lifestyle, environment, and microbiota in the gut, skin and oral cavity," says Nilsson. "The cohort looks at all of these variables and links them with genetics."

The Biobank at the Karolinska Institute
The high-tech support infrastructure behind the EpiHealth Cohort and some similar cohort studies, such as the LifeGene cohort, is the high-tech Biobank at the Karolinska Institute. This is the most modern biobank on Sweden. Inside the biobank are housed tens of thousands of samples from people in the cohorts, all barcoded and tracked through the system.
Eva Ortega Paino, coordinator, BBMRI.se Service Centre for Southern Sweden and Project Leader at SWELife, has been involved in the BBMRI (Biobanking and Biomolecular Resources Research Infrastructure) and based at the service centre since 2013. BBMRI.se is part of BBMRI-ERIC which is a consortium that provides the infrastructure and coordination for biobanks around Europe.
"My co-ordinator role at the Service Centre was as part of a pilot project to act as a link between researchers, platforms, and biobanks, to stimulate collaboration, and to encourage researchers to get involved and guide them through the process. Biobanks are particularly important for quality and quantity of samples, in rare diseases, for example.
Ortega-Paino provides researchers with advice on biobank-related topics such as sample quality, with the aim of improving the quality of samples collected 'from needle to freezer', for example through ensuring that they were collected and stored correctly.
"Funding agencies need to ensure that they support projects that use samples from high-quality biobanks. It's also important to make sure that the right informed consent processes are followed, particularly in challenging situations, for example if one wants to collect samples for patients in intensive care," said Ortega-Paino.
She is also heavily involved in education, spreading the word of the importance of biobanks to both scientists and the public.
"I have been working with in law, philosophy, sociology, and science students at all levels in collaboration with Dr Aaro Tupasela from the department of public health at the University of Copenhagen. We have been looking at establishing a Master's degree within the BBMRI-ERIC network, and at improving harmonising and standardising across biobanks. This has been really successful, getting the course top grades in the evaluation from our students" said Ortega-Paino. "We also want to get patients and the public involved, and we are opening our doors to the public, and increasing public engagement, as well as bringing patient groups into symposia.


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