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Research interests
Integrated genome wide profiling of common traits: Genetics of
cardiovascular and neuropsychiatric diseases
The group aims to translate the wealth of data emerging from large-scale
genome-wide analyses in molecular epidemiological studies in various
European populations into information of direct relevance to future
advances in clinical medicine. We do this for selected cardiovascular (dyslipidemias,
myocardial infarct, atherosclerosis) and neuropsychiatric diseases
(multiple sclerosis, autism, schizophrenia) and their trait components
through the integration of very large-scale genetic and phenotypic data
already available from a substantial number of large and
well-characterized families and population cohorts.
Our research has its foundation in the capitalization of the
possibilities provided by the special population resources of Europe,
including large epidemiological study sample resources from the isolated
population of Finland (www.nationalbiobanks.fi). We use advanced
molecular methods of Sanger platforms and biocomputational strategies to
collect genome-wide information of diseases with complex etiology. Our
current research is focusing on integrated analysis of genetic fine
mapping studies of already identified loci for well characterized
clinical phenotypes, with subsequent studies aiming at identification of
the causative variants and analyses of their individual and joint
effects in population samples. We also plan to adapt methodological
advances that enable analyses of other sources of genomic variation (eg
structural and epigenetic variants), and to broadening of the phenotypic
spectrum (to genomic endophenotypes in particular). As well as advances
in the understanding of disease pathogenesis which may underpin novel
therapeutic advances, we expect to provide clear proof-of-principle that
genetic and genomic discoveries can be translated into diagnostic
indicators for other common diseases with the capacity to stratify risk,
monitor disease progression and in future also predict and monitor
therapeutic response.
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