Understanding disease genetics using the Finnish founder population

The overall goal of the Palotie group is to improve understanding of the genetic mechanisms underlying common diseases. Much of our work draws on the unique clinical and population-based large sample collections from the Finnish founder population. One of the main focus areas is genetics of neurological, neurodevelopmental and neuropsychiatric traits.

1. The FinnGen study. The FinnGen study (https://www.finngen.fi/en) launched in Finland in the autumn of 2017 is a unique study that combines genome information with digital health care data from over 500 000 participants. The FinnGen study is a global research project representing one of the largest studies of this type. Project aims to improve human health through genetic research, and ultimately identify new therapeutic targets and diagnostics for treating numerous diseases. The collaborative nature of the project is exceptional compare to many ongoing studies, and all the partners are working closely together to ensure appropriate transparency, data security and ownership.

   FinnGen brings together Finnish universities, hospitals and hospital districts, THL, biobanks, thirteen international pharmaceutical companies.

2. Genetics of Migraine. The group has over 30 years track record in migraine genetics. It builds on a long collaboration between Dr. Mikko Kallela, Dr. Maija Wessman, Dr. Matti Pirinen and the International Headache Genetics Consortium (IHGC). These studies are based on large sample collections and have identified more than 120 associated genetic loci. Family studies have expanded our understanding how common and rare variants contribute to the familial aggregation of migraine.
3. Genetics of psychosis. The Finnish SUPER study (https://pubmed.ncbi.nlm.nih.gov/37045567/) on genetic mechanisms of psychotic disorders is a 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 therapeutic interventions. In Finland the national study was carried out during the years 2016-2018. The Finnish SUPER study successfully collected over 10,400 genetic samples from psychosis patients, which have been exome or whole genome sequenced. Institute for Molecular Medicine Finland (FIMM), University of Helsinki, was leading the study in collaboration with the National Institute for Health and Welfare (THL). Five university hospital districts were involved in the sample collection.
4. Northern Finnish Cognitive Impairment project (NFID). Most of the current population in the north-eastern part of Finland are descendants of small founder populations established in the 17th century. This has resulted in population isolate structures in the region and an enrichment of recessive diseases. These areas also have higher prevalence of schizophrenia and government compensation for cognitive disability. This stimulated the hypothesis if we could, by combining data from the SUPER psychosis study and the NFID study could identify potential shared risk factors contributing to neurodevelopmental and neuropsychiatric traits. The NFID study consists of over 3100 individuals, 1500 cases and 1600 family members from a total of 1300 families. About 60% of cases have mild ID and many of them also treated at psychiatric care units. The majority of the samples have been GWAS genotyped and exome sequenced.