Institute for Molecular Medicine Finland (FIMM), HiLIFE University of Helsinki, Finland
Professor Aarno Palotie, M.D., Ph.D. is the research director of the Human Genomics program at FIMM. He is also a faculty member at the Center for Human Genome Research at the Massachusetts General Hospital in Boston and associate member of the Broad Institute of MIT and Harvard. He has a long track record in human disease genetics. He has hold professorships and group leader positions at the University of Helsinki, UCLA, Wellcome Trust Sanger Institute. He has also been the director of the Finnish Genome Center and is currently the chief Scientific Officer of the FinnGen project.
FinnGen: a unique resource of 500,000 Finns
FinnGen is a large public-private partnership aiming to collect and analyse genome and health data from 500,000 Finnish biobank participants. FinnGen aims on one hand to provide novel medically and therapeutically relevant insights but also construct a world-class resource that can be applied for future studies. As of February 2021 FinnGen has over 430 000 participants with the goal to reach the 500 000 landmark by 2023. The study produces comprehensive genome variant data using genome-wide genotyping and imputation that is based on a population specific sequencing imputation backbone. Using this strategy, variants can be reliably imputed down to very low frequency due to the strong bottleneck effect which the Finnish population has experienced. The study utilizes the extensive longitudinal health register data available on all Finns that record hospital and outpatient visits, prescription drug purchases, causes of death and many others. These registers cover the entire lifespan and have been digitalized for decades. This data provides unique opportunities to study disease associations (GWAS and PheWAS), disease trajectories and comorbidities. The latest data freeze from February 2021 consists of over 330 000 individuals. The study has so far identified over 400 new disease associated loci where the associated variant is enriched in the Finnish population. These provide potential for further functional studies and new insight in disease mechanisms. The study currently involves Finnish biobanks, University Hospitals and their respective Universities, the Finnish Institute of Health and Welfare (THL), the Finnish Red Cross Blood Service and twelve pharmaceutical companies.
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Health-RI Conference 2021Health-RI Conference 20210.00EUROnlineOnly2019-01-01T00:00:00ZTo be announcedTo be announced