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FinnGen study GeneRISK
FinnGen is a large-scale academic/industry research The GeneRISK study led by FIMM was the first compre-
collaboration improving human health through genetic re- hensive examination of the impact of disease risk infor-
search, and ultimately identifying new therapeutic targets mation based on both genetic and lifestyle factors. The
for treating numerous diseases. The study was launched novel web-based KardioKompassi® tool developed by the
in Finland in 2017 with the scope to collect and analyse team was used to interpret personal, 10-year risk profiles
genomic and health data from 500,000 Finnish biobank for ischemic heart disease for more than 7,000 study
participants by 2023. It produces near complete genome participants. The results showed that information about
variant data from all of the 500,000 participants and personal genetic risk for cardiovascular disease motivates
utilises the extensive longitudinal, national health register individuals to take better care of their health.
data available on all Finns.
Fine-scale Genetic Structure
The study has already identified hundreds of medically-in- in Finland
teresting genetic variants, common in the Finnish popula-
tion. The underlying disease mechanisms of many of these By measuring shared DNA segments within and between
variants are currently being studied by profiling samples groups of modern-day people, we can detect patterns of
from the variant carriers with multiple different tech- genetic relatedness that can reveal historical events, such
nologies. The public-private partnership is led by FIMM as migrations and admixture events that happened to the
researchers and involves collaborations with biobanks and genetic ancestors of modern-day people. With these meth-
their host organisations all around Finland as well as 13 ods, FIMM researchers have shown how genetic ancestry
international pharmaceutical companies. in different regions of Finland has evolved in the 1900s and
what the composition of the genetic ancestry has been in
FinnGen each municipality during that period.
FIGKUERYES Centre of Excellence in
Complex Disease Genetics
95M€Budget
Revealing the molecular mechanisms underlying com-
Current dataset mon complex diseases holds the promise of improved and
targeted prediction, prevention, diagnosis and treatment.
429,000 Building on unique resources and an extensive track record
in disease genetics studies in Finland, in 2017 FIMM was
individuals awarded an Academy of Finland Centre of Excellence (CoE)
in Complex Disease Genetics. The programme develops
Genome variants and applies a powerful, reliable, and general strategy for
comprehensive identification of risk and protective vari-
>20M ants that contribute significantly to common diseases,
and to develop and test implementation strategies for
Clinical endpoints genomic-based precision medicine. The CoE brings to-
gether 10 group leaders who are among the global leaders
>4,600
in complex disease and statistical genetics.
Industry partners
INTERVENE H2020 project
13
The INTERVENE consortium coordinated by FIMM re-
Academic partners searchers seeks to leverage vast, but underused data to
generate clinically-actionable information for improved
15 understanding of diseases and treatment options tailored
to individuals. The project advances artificial intelligence-
facilitated analyses of complex medical data to develop
genetic risk scores summarising the estimated effect of
an individual’s genetic makeup on the risk of developing a
particular disease.
FIMM – Building a Bridge from Discovery to Medicine |7
