The Brain Research Unit's new service concept has improved the process of identifying individuals in biobanks and recontacting them for studies, especially those whose genes put them at risk for brain diseases, including rare ones. “The concept can also be applied to other fields beyond brain diseases, such as cancer research,” said Professor Mikko Hiltunen, the Director of the UEF Brain Research Unit 2.0 project, at the project’s final seminar.
One of the goals of the ERDF-funded project was to develop an efficient process for identifying, from among biobank sample donors, individuals whose genes put them at increased risk of brain diseases, and for recontacting those individuals for studies. This makes it possible to obtain increasingly precise information on the effects of risk genes, while also promoting the personalised treatments. In Finland, biobanks have analysed the genotype of a total of 500,000 people under the FinnGen project.
At the University of Eastern Finland, the Brain Research Unit,the Institute of Biomedicine, and the Biobank of Eastern Finland, piloted the recontact procedure among carriers of the TYROBP deletion. This genetic mutation, when inherited from both parents, causes a rare dementia known as Nasu-Hakola disease. Information on the presence of the deletion is not directly available from the biobank genotype data, but its carriers could be identified based on a genetic proxy markers available at the biobanks.
“Asymptomatic carriers and controls who had given permission to be contacted were invited to the Brain Research Unit, where new cell models for research have been produced from the samples taken, among other things. People were even surprisingly eager to participate.”
In the future, the procedure will constitute part of the Brain Research Unit’s services aimed at both commissioned and academic studies.
“The model has been developed with a keen eye on companies’ needs.”
During the project, the Brain Research Unit also launched a service where anyone can register as a volunteer for clinical trials. Registered individuals are later contacted if, for example, a drug trial for which they are eligible is starting. “The service has generated a lot of interest, and nearly a thousand mainly healthy volunteers have already signed up,” Associate Professor Eino Solje, the Director of the Brain Research Unit, noted.
New brain biomarkers and better analysis of brain images
The Brain Research Unit at the University of Eastern Finland carries out clinical academic research together with a broad network of collaborators, as well as clinical drug trials and device studies commissioned by companies, where diagnostics or new treatments are studied in patients. The Biomarker Laboratory within the Brain Research Unit also offers diagnostic services. “We seek to provide cutting-edge brain biomarker analytics that is not readily available elsewhere,” Research Director Sanna-Kaisa Herukka said.
In the UEF Brain Research Unit 2.0 project, the analytical services of the Biomarker Laboratory were developed in collaboration with pharmaceutical companies. For example, the laboratory is the first in Finland to house Roche’s fully automated cobas pure analyzer, which will be used for cerebrospinal fluid analyses. Another device acquired together with Orion, on the other hand, supports research projects in prion analysis and in the development of biomarkers for Parkinson’s disease and Lewy body dementia. Additionally, in January, the laboratory was the first in Europe to launch blood test-based diagnostics for Alzheimer’s disease, thanks to the new Fujirebio Lumipulse system enabling the analysis of the pTau217 marker.
“An important goal – which we reached – was to hone our processes and design concepts that allow us to offer research and commissioned research services to both domestic and international partners more quickly and more flexibly,” Herukka said.
“Kuopio is seen as a strong player, one that Roche wants to collaborate with,” said Milla Mikkola, Medical Scientific Liaison at Roche Diagnostics.
According to her, the possibility to recontact biobank sample donors is an important advantage in the collaboration. “During this project, Roche Global has also become more aware of what is being done here – and indeed of what can be done here.”
The use of brain images in academic research is promoted by the guidelines prepared in the project for the process of transferring diverse imaging data from Kuopio University Hospital’s Imaging Centre to the efficient computing environment available in the university’s Bioinformatics Centre. The use of brain images is also promoted by a service concept designed for brain image analysis. The guidelines are continuously updated and available from the Brain Research Unit.
“Access to efficient computing environments is essential when dealing with large datasets consisting of thousands of images. However, only data intended for research can be processed in the university’s computing environment,” Professor Jussi Tohka emphasised.
The Brain Research Unit’s PPI service ensures patient involvement in projects
The Brain Research Unit has also developed a patient and public involvement (PPI) service aimed at researchers and companies to ensure the involvement of patients and citizens in research projects. “Based on a survey conducted in the project, there is a need for this service. Companies and researchers engaged in basic research often do not have existing connections to patient groups that would be relevant to their project,” Professor Reetta Kälviäinen said.
The service covers all phases of the project, from finding participants and organising meetings, to disseminating the project’s results to target groups in an understandable manner. “Patient involvement ensures that the project addresses real needs, which also ensures its impact.”
The university’s Director of Impact Minna Hendolin presided over the seminar and the following panel discussion. The panellists included, in addition to Hiltunen and Solje, the Dean of the Faculty of Health Sciences Markus Forsberg, Kuopio Health CEO Aki Gröhn, Neurocenter Finland’s Head of Services Kaisa Unkila, and Roche’s Scientific Affairs Manager Sami Väisänen.
The goal of the UEF Brain Research Unit 2.0 project was to develop an operational model for clinical research in brain health to streamline collaboration between the university, the North Savo Wellbeing Services County, other stakeholders and companies. The project was funded by the European Regional Development Fund (ERDF), Blueprint Genetics, Roche Diagnostics and Orion.
