Short Name: Uh-FIMM
Institute for Molecular Medicine Finland, FIMM, is an affiliate to Helsinki Institute of Life Science (HiLIFE) at the University of Helsinki. FIMM is an international research institute focusing on building a bridge from discovery to medical applications. FIMM is a part of the Nordic EMBL partnership for Molecular Medicine, together with the European Molecular Biology Laboratory (EMBL), the Centre for Molecular Medicine Norway (NCMM, University of Oslo) and the Laboratory for Molecular Infection Medicine Sweden (MIMS, Umeå University).
The mission of the Institute is to advance new fundamental understanding of the molecular, cellular and etiological basis of human diseases. This understanding will enable to us to progress translational efforts, leading to improved means of diagnostics and the treatment and prevention of common health problems. FIMM integrates molecular medicine research with cutting- edge technology platforms and a biobanking infrastructure under one roof and focuses strongly on a few scientific grand challenges.
FIMM houses high through-put core facilities for molecular medicines: 1) Sequencing and genotyping, such as genome-wide and targeted next generation genome sequencing, RNA and miRNA sequencing, and single cell analytics (10XGenomics Chromium) on the Illumina NGS platforms (1x MiSeq and NovaSeq6000, HISeq2500 is fading out soon ); 2) Metabolomics profiling, with UPLC-MS/MS (MRM strategy) for targeted key metabolites and UPLC-MS/MS instruments for complete metabolomics profiling capability; 3) High-throughput computational and bioinformatics support, with large-scale local computing infrastructure; 1.7 Petabytes of high performance storage; a HPC compute cluster with 600 CPU cores.In addition to the local resources, FIMM has a dedicated high-speed optical link to the Finnish IT Centre for Science Ltd’s (CSC) data centre in Keilaniemi, Espoo, which enables FIMM to utilize the CSC/ELIXIR Finland cloud resources for high performance computing (1200 cores in addition to the local cluster) and also access European scientific computational resources through CSC (eg. EuroHPC project). Besides these resources, for computationally heavy processing we use European (Euro West-1) Google Cloud resources that enable ultra-fast and highly scalable deployment and application of our in-house developed genome data processing and analyses’ workflows. 4) Biobanks. The combined FIMM, THL biobanking facility houses over 200 000 subjects.
Other European projects:
Role in the project:
A contribution at “technical sequencing evaluation” and in the evaluation committee. In addition,
transversal activities: dissemination, standards and involvement of other “procurers” outside the consortium.
Professor Aarno Palotie
Professor Aarno Palotie, M.D., Ph.D (male) is the research director of the Human Genomics program at FIMM. He is also a faculty member at the Center for Human Genome Research at the Massachusetts General Hospital in Boston and associate member of the Broad Institute of MIT and Harvard. He has a long track record in human disease genetics. He has hold professorships and group leader positions at the University of Helsinki, UCLA, Wellcome Trust Sanger Institute. He has also been the director of the Finnish Genome Center and Laboratory of Molecular Genetics in the Helsinki University Hospital.
AP has chaired several large international research consortia as a member or chair, like the Sequencing Initiative Suomi, SISu (www.sisuproject.fi), SUPER project (www.superfinland.fi) and International Headache Genetics Consortium (IHGC, www.headachegenetics.org). AP is the Chief Scientific Officer of the large FinnGen project (www.finngen.fi) that collects the genome and health record data from 500 000 Finnish participants. The project is contributed by Business Finland (The Finnish innovation fund) and several international pharma companies. He has published over 500 articles and book chapters.
Main publications and patents:
Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, Hämäläinen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtimäki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A; Sequencing Initiative Suomi (SISu) Project. Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population. PLoS Genet. 2014 Jul 31;10(7):e1004494. doi: 10.1371/journal.pgen.1004494. eCollection 2014 Jul.
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki A. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Nat Genet. 2014 Nov 17. doi: 10.1038/ng.3144.
Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, Clair DS, Veijola J, Walters JT, Williams H; Swedish Schizophrenia Study; INTERVAL Study; DDD Study; UK10 K Consortium, Sullivan PF, Hurles ME, O’Donovan MC, Palotie A, Owen MJ, Barrett JC. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14. PMID:26974950
Gormley P, Kurki M I, Hiekkala M E, Veerapen K, Häppölä P, Mitchell A A, Lal D, Palta P, Surakka I, Kaunisto M A, Hämäläinen E, Vepsäläinen S, Havanka H, Harno H, Ilmavirta M, Nissilä M, Säkö E, Sumelahti M.-L. , Liukkonen J, Sillanpää M, Metsähonkala L, Koskinen S, Lehtimäki T, Raitakari O, Männikkö M, Ran C, Belin A C, Jousilahti P, Anttila V, Salomaa V, Artto V, Färkkilä M, and Me Research Team, 24 International Headache Genetics Consortium (IHGC), Runz H, Daly M J, Neale B M., Ripatti S, Kallela M, Wessman M, and Palotie A. Common variant burden contributes to the familial aggregation of migraine in 1,589 families.
Neuron. 2018 Sep 5;99(5):1098. doi: 10.1016/j.neuron.2018.08.029. No abstract available. PMID:30189203
Kurki M, Saarentaus E, Pietiläinen O,Hämäläinen E, Gormley P, Torniainen-Holm M, Salomaa V, Lal D, Kerminen S, Pirinen M, Suvisaari J, Rahikkala E, Keski-Filppula R, Rauhala M, Korpi- Heikkilä S, Komulainen–Ebrahim J, Helander H, Vieira P, Moilanen J S , Körkkö J, Kuismin O, Daly M J, Palotie A. Contribution of rare and common variants to intellectual disability in a high- risk population sub-isolate of Northern Finland. Nat Commun. 2019 Jan 24;10(1):410. doi: 10.1038/s41467-018-08262-y. PMID:30679432