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Advancing Medical Research
How Finland’s Unique Genetic Heritage Is Being Used to Study the Links Between Genes and Diseases
The FinnGen study will analyze up to 500,000 blood samples from biobanks in Finland, taking advantage of a unique feature in the country’s genetic heritage.
The unique genetic heritage of the Finns — marked by repeated population bottlenecks and isolation from their neighbors in northern Europe — is helping scientists embark on a search for the complex links between genes and diseases.
Finland also has a robust network of biobanks, and the country has passed laws that make the voluminous biobank data accessible to researchers. The combination of those two factors has set the stage for the FinnGen study, which began in the fall of 2017 and will continue for six years. FinnGen is a consortium being coordinated by the University of Helsinki in which Pfizer and six other pharmaceutical partners will work with Finnish biobanks to conduct genomic and phenotype analysis involving up to 500,000 patients.
Key to this study is that the Finns underwent repeated population bottlenecks (severe and rapid reductions in population size) — including major episodes about 4,000 years ago and again 2,000 years ago. In addition, the Finns were relatively isolated, making the country’s population of 5.5 million today relatively homogeneous genetically. These features make the Finns well suited to gene mapping studies. In such a population, a genetic mutation in one of the population’s “founders” — that is, the small group of ancestors who survived the bottlenecks — can be more easily tracked.
“In both the demographics and the migration history of the population, there are some unique characteristics in how that presents itself in genetics,” says Melissa R. Miller, Senior Manager, Computational Target Validation, Target Sciences and Technologies at Pfizer and one of the Pfizer investigator(s) for the FinnGen study.
A Brief History of the Finnish People
The area that is Finland today was first inhabited by humans after the glaciers from the last ice age receded about 10,000 years ago. But it remained sparsely populated until about 2,000 years ago, and even then, it wasn’t until the 1500s that people began migrating from the early settlements in the southwest of the country — mostly along the coast of the Baltic Sea — into the northern and eastern regions, with those migrant populations often forming isolated enclaves of fewer than 50,000 people. In addition, there have been repeated population bottlenecks, the last one in the early 1700s.
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