Director, Jaakko Kaprio shares the work that is being conducted to progress genomic epidemiology research and develop personalised medicine
The Institute for Molecular Medicine Finland (FIMM) aims to advance new fundamental understanding of the molecular, cellular and etiological basis of human diseases. We are committed to promoting translational research and the adoption of personalised medicine in health care.
FIMM was founded in 2006 as a joint research institute of several Finnish partners. As of 2017 we joined the university’s new life science research centre, Helsinki Institute of Life Science, as a scientifically and financially autonomous operational unit. FIMM is located at the Meilahti medical campus in Helsinki – Finland’s leading hub of academic medical research and medical care.
Cutting edge technology
To reach our mission goals, we have created a new type of research institute where we integrate molecular medicine research with cutting-edge technology platforms, and a biobanking infrastructure under one roof and focus strongly on a few scientific grand challenges. The grand challenge programmes provide an opportunity to align our research on large and complex issues and draw our researchers, technology experts and clinical collaborators together to achieve a common goal through collaboration.
FIMM is characterised first and foremost by our partnership with the flagship of European biosciences research, the European Molecular Biology Laboratory (EMBL). As part of the Nordic EMBL Partnership for Molecular Medicine, we follow the EMBL operational model and principles. This means aiming towards scientific excellence and establishing mechanisms for independent, regular scientific evaluation of research activities, scientific integrity and good scientific practice, as well as commitment to international recruitment and significant levels of staff turnover. Another important international network for us is EU-Life, comprising 13 top biomedical research institutes from Europe. FIMM has been a member of this network since 2013.
There is a major global shift towards predictive, preventive, personalised, and participatory (P4) health care, anticipated to promote healthy aging and constrain healthcare costs.
Our vision is to lead Finland into the era of P4 medicine by coordinating the integration, analysis and translation of genomic, molecular and health data in Finland and beyond.
Much of our research draws on the unique clinical and population-based samples collected from the Finnish founder population and on the close partnerships we have with our clinical and industrial collaborators. Through our high-quality science, we are uncovering the underlying causes and drivers of disease, as well as translating medical molecular findings into public and individual health outcomes.
Our research focuses on two main areas: Human Genomics and Preventive Healthcare & Systems Medicine and Precision Therapeutics. We believe that an important way to achieve the best scientific results is to focus strongly on a few grand challenges in society, and for the institute to work together towards these goals.
This work requires unique resources. One such resource at FIMM is the Sequence Initiative Suomi (SISu). Due to Finland’s unique population history, the Finnish gene pool is rather exceptional and thus a specific reference dataset of sequence variants in Finns is needed. SISu is a FIMM-coordinated international collaboration project aiming to build tools for genomic medicine by compiling information about the Finnish genetic variation. The freely available SISu search engine provides valuable summary data on variants from exomes of over 10,000 individuals sequenced in disease-specific and population-wide genetic studies. Other resources are the large population-based studies of general health, in particular of cardiovascular health, associated genomics and large gwas samples deposited in Finnish Biobanks. Extensive register-based measures of health supplement these. The biobank data and samples are available for use not only by national and international academic researchers, but also companies including the vibrant start-up cluster in Helsinki. These form an important part of Helsinki Health Capital alliance.
A study in human genomics
A large-scale human genomics study that utilises unique Finnish resources is the SUPER study on genetic mechanisms of psychotic disorders. It is part of the international Stanley Global Neuropsychiatric Genomics Initiative. The objective of the study is to better understand the genetic and biological background of psychotic disorders in order to provide more accurate information for the development of new therapeutics. Finland is the European pilot country and the aim is to collect a minimum of 10,000 genetic samples from Finnish psychosis patients. The national study was launched in early 2016 and will continue for three years. FIMM is leading the study in collaboration with the National Institute for Health and Welfare, THL.
One practical P4 example is our Digital Health Revolution (DHR) Pilot Study. The DHR pilot study is FIMM’s first next-generation health and wellness research project and part of a national and multidisciplinary Tekes-funded strategic opening. The study combines deep and comprehensive molecular health profiling, digital wellness monitoring and personalised coaching in about 100 volunteers, with multiple assessment waves and lab visits. The main aims are to facilitate preventive health care and personalised wellness and to devise and test strategies and technologies to integrate P4 medicine into current health care systems. The two-year field work has now been completed and it was very well accepted by the participants; first results are expected later this year.
Complementary to the DHR is the cardiovascular study GeneRISK. Current heart disease prediction methods based on environmental and life-style factors are insufficient, failing to detect over half the high-risk individuals. KardioKompassi® was developed by researchers at FIMM to meet the need for better and more accurate prediction tools. This next-generation web-tool enables patients and doctors to use genomic data to predict and prevent cardiovascular disease. It uniquely combines traditional medical approaches with multiple recently discovered genetic risk factors. KardioKompassi® is currently being used in the FIMM-led population-based GeneRISK-study, with ongoing recruitment of up to 10,000 adults Finnish participants.
During our first ten years we have demonstrated that a Finnish research institute with state-of-the-art technology infrastructures can act on a high international level, in terms of recruiting staff, obtaining external funding, and, most importantly, the quality and impact of science. For further details please see our website and latest annual online report.
Jaakko Kaprio
Director
University of Helsinki Institute for Molecular Medicine FIMM
jaakko.kaprio(a)Helsinki.fi
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