Alzheimer Research

Clinical studies and molecular genetics

Seppo Helisalmi
PhD, Adjunct Professor, Senior Researcher


University of Eastern Finland
Institute of Clinical Medicine / Neurology
Clinical Research Centre
Brain Research Unit
P.O. Box 1627 (Yliopistonranta 1B)
FI-70211 Kuopio
Finland

+358-(0)40-355 2259 
seppo.helisalmi (at) uef.fi

Major Research Interests

  • Molecular genetics, a special emphasis on Alzheimer's disease
  • Next generation sequencing, genetic marker analyses

Present Position

  • Senior researcher, Molecular Alzheimer Research, Institute of Clinical Medicine - Neurology, Clinical Research Centre, Brain Research Unit, University of Eastern Finland

Academic degrees 

  • Adjunct Professor (Docent) (Molecular Genetics), Faculty of Medicine, University of Kuopio, 2006
  • PhD (Neuroscience), Faculty of Medicine, University of Kuopio, 1998
  • MSc (Biotechnology), Faculty of Natural and Environmental Sciences,University of Kuopio, 1991

Selected Publications

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease. Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H, Sulem P, Magnusson OT, Gudjonsson SA, Unnsteinsdottir U, Kong A, Helisalmi S, Soininen H, Lah JJ; DemGene, Aarsland D, Fladby T, Ulstein ID, Djurovic S, Sando SB, White LR, Knudsen GP, Westlye LT, Selbæk G, Giegling I, Hampel H, Hiltunen M, Levey AI, Andreassen OA, Rujescu D, Jonsson PV, Bjornsson S, Snaedal J, Stefansson K. Nat Genet. 2015 May;47(5):445-7. doi: 10.1038/ng.3246. Epub 2015 Mar 25.

Effects of Alzheimer's disease-associated risk loci on cerebrospinal fluid biomarkers and disease progression: a polygenic risk score approach. Martiskainen H, Helisalmi S, Viswanathan J, Kurki M, Hall A, Herukka SK, Sarajärvi T, Natunen T, Kurkinen KM, Huovinen J, Mäkinen P, Laitinen M, Koivisto AM, Mattila KM, Lehtimäki T, Remes AM, Leinonen V, Haapasalo A, Soininen H, Hiltunen M. J Alzheimers Dis. 2015;43(2):565-73. doi: 10.3233/JAD-140777.

High risk population isolate reveals low frequency variants predisposing to intracranial aneyrysms. Kurki MI, Gaál EI, Kettunen J, Lappalainen T, Menelaou A, Anttila V, van 't Hof FN, von Und Zu Fraunberg M, Helisalmi S, Hiltunen M, Lehto H, Laakso A, Kivisaari R, Koivisto T, Ronkainen A, Rinne J, Kiemeney LA, Vermeulen SH, Kaunisto MA, Eriksson JG, Aromaa A, Perola M, Lehtimäki T, Raitakari OT, Salomaa V, Gunel M, Dermitzakis ET, Ruigrok YM, Rinkel GJ, Niemelä M, Hernesniemi J, Ripatti S, de Bakker PI, Palotie A, Jääskeläinen JE. PLoS Genet. 2014 Jan 30;10(1):e1004134. doi: 10.1371/journal.pgen. 1004134.eCollection 2014 Jan.

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. European Alzheimer's Disease Initiative (EADI); Genetic and Environmental Risk in Alzheimer's Disease; Alzheimer's Disease Genetic Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology, Alpérovitch A, Boland A, Delépoine M, Dubois B, etc. Nat Genet. 2013 Dec;45(12):1452-8. doi: 10.1038/ng.2802. Epub 2013 Oct 27.

CSF biomarkers for Alzheimer disease correlate with brain biopsy findings. Seppälä TT, Nerg O, Koivisto AM, Rummukainen J, Puli L, Zetterberg H, Pyykkö OT, Helisalmi S, Alafuzoff I, Hiltunen M, Jääskeläinen JE, Rinne J, Soininen H, Leinonen V, Herukka SK. Neurology. 2012 May 15;78(20):1568-75. Epub 2012 Apr 18.

Metabolome in progression to Alzheimer's disease. Orešič M, Hyötyläinen T, Herukka SK, Sysi-Aho M, Mattila I, Seppänan-Laakso T, Julkunen V, Gopalacharyulu PV, Hallikainen M, Koikkalainen J, Kivipelto M, Helisalmi S, Lötjönen J, Soininen H. Transl Psychiatry. 2011 Dec 13;1:e57. doi: 10.1038/tp.2011.55. 

Cysteine 27 variant of the delta-opioid receptor affects amyloid precursor protein processing through altered endocytic trafficking. Sarajärvi T, Tuusa JT, Haapasalo A, Lackman JJ, Sormunen R, Helisalmi S, Roehr JT, Parrado AR, Mäkinen P, Bertram L, Soininen H, Tanzi RE, Petäjä-Repo UE, Hiltunen M. Mol Cell Biol. 2011 Jun;31(11):2326-40. Epub 2011 Apr 4. 

Genome-wide association study identifies variants at CLU and CR1 associated with  Alzheimer's disease. Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C,  Pasquier F, Fiévet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O; the European Alzheimer's Disease Initiative  Investigators, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanché H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P. Nat Genet, [Epub ahead of print], 2009. 

Tenomodulin variants, APOE and Alzheimer's disease in a Finnish case-control cohort. Tolppanen AM, Helisalmi S, Hiltunen M, Kolehmainen M, Schwab U, Pirttilä T, Pulkkinen L, Uusitupa M, Soininen H. Neurobiol Aging, [Epub ahead of print], 2009. 

An association study between granulin gene polymorphisms and Alzheimer's disease in a Finnish population. Viswanathan J, Mäkinen P, Helisalmi S, Haapasalo A, Soininen H, Hiltunen M. Am J Med Genet B Neuropsychiatr Genet 150B (5):747-750, 2009.