2012 © Institute for Molecular Medicine Finland FIMM
Genomics of neurological disorders
Professor Aarno Palotie, MD, PhD
The overall goal of Aarno Palotie´s group is to improve our understanding of the genetic mechanisms underlying neurological and neurodevelopmental traits by combining genome-wide information of both single nucleotide polymorphism and structural variants across classical diagnostic phenotypes. Much of our work draws on the unique clinical and population-based samples collected from the Finnish founder population. These include such clinical collections as the Finnish Migraine Family sample (collected by Dr. Mikko Kallela), the Finnish Schizophrenia family samples (collected by Dr. Jouko Lönnqvist) and the Finnish Autism Sample collection (collected by Dr. Lennart von Wendt) and such population cohorts as the Finrisk, Helsinki Birth Cohort, Northern Finnish Birth Cohort and Health 2000 cohorts (www.nationalbiobanks.fi). The long lasting geographical and linguistic isolation, internal migrations, famines and rapid, recent expansions have moulded the population structure of Finland for thousands of years. Such population isolates provide exceptional opportunities for identification of genome variations underlying disease traits. When the unique population structure is combined with the one payer health care system, the harmonized training of physicians and tradition in epidemiological research Finland has become one the most interesting places for genetic epidemiology.
The Palotie group aims to identify both common and low frequency variants associated to two paroxysmal neurological disorders migraine and epilepsy, and two neurodevelopmental disorders, schizophrenia and autism using GWA and next gene generation sequencing techniques. To combine different fields of expertise and to have sufficient power these studies are performed in collaboration with several international groups and high throughput platforms. The wealth of multiple large study samples enables the group to use different study designs for genome variant identification and verification and for the estimation of the size of the effect contributed by the variants. As an example of a successful study, we recently published results from a genome-wide association study of migraine with aura, in collaboration with six major headache research centres in Europe and Australia. This study identified a susceptibility variant on chromosome 8q that is potentially linked to glutamate neurotransmitter regulation. We are now following up this initial result in different migraine subtypes from population cohorts and individuals suffering from chronic pain.
Dr. Palotie is a faculty member at the Wellcome Trust Sanger Institute in Cambridge UK and a visiting faculty member at the Broad Institute of MIT and Harvard.
Group Members
PI: Aarno Palotie
Senior Researcher: Maija Wessman
Postdoctoral Researchers: Verneri Anttila, William Hennah
PhD Students: Tiia Luukkonen, Mikko Muona, Emma Nyman, Olli Pietilainen
Technician: Eija Hamalainen
Research Nurses: Carita Jussila, Leena Leikas, Anne Nyrhinen
Project Coordinator: Sari Kivikko
Collaborators in the Helsinki University Central Hospital: Ville Artto, Markus Farkkila, Mikko Kallela, Salli Vepsalainen
Selected Publications
- Anttila V, Stefansson H, Kallela M et al. Identification of a migraine-associated variant on 8q22.1, Nat Genet. Oct;42(10):869-73, 2010.
- Inouye M, Silander K, Hamalainen E et al. An immune response network associated with blood lipid levels. PLoS Genet. Sep 9;6(9), 2010.
- Yasuno K, Bilguvar K, Bijlenga P et al. Genome-wide association study of intracranial aneurysm identifies three new risk loci Nat Genet. May;42(5):420-5, 2010.
- The 1000 Genomes Consortium: A map of human genome variation from population scale sequencing. Nature. Oct 28;467(7319):1061-73, 2010.