Friday 30th September 2022  15.45-17.00

Mikko Hiltunen

Professor of Tissue and Cell Biology

School of Medicine – Institute of Biomedicine, University of Eastern Finland (UEF), FINLAND

Personalized medicine approach for novel microglia-associated genetic variants in Alzheimer’s disease


Alzheimer’s disease (AD), the main cause of dementia world-wide, is clinically manifested as memory impairment and executive dysfunction. Most of the pathomechanistic studies in AD have so far largely concentrated on neurons, neglecting the role of other brain cells in neurodegeneration. The goal in the PMG-AD project is to establish a personalized medicine-based approach for identification of early biomarkers and therapeutic targets in AD by focusing on novel AD-associated genetic variants in ABI3 and PLCG2 genes and consequently utilizing the latest research methodologies, human-based model systems and cohorts, and PET imaging, multilevel omics, integrative bioinformatic and endophenotype analyses to advance understanding of the role of microglia in AD. This new knowledge will advance the identification of novel candidates as personalized medicine-based biomarker and therapeutic targets for AD.

Key references:

Martiskainen H et al., Ann Neurol. 2017;82(1):128-132;

Sims R et al., Nat Genet. 2017;49(9):1373-1384;

Takalo M et al., Mol Neurodegener. 2020; 15:52.

Natunen T et al., Mol Neurodegener. 2020 Nov 10;15(1):66;

Bellenguez C et al Nat Genet. 2022 Apr;54(4):412-436.


Prof. Mikko Hiltunen, PhD, has over 20-year experience in the research field of Alzheimer’s disease (AD). His research group focuses on the genetic and mechanistic studies in AD. He has used genetic approaches to identify novel risk genes in AD and assessed the underlying molecular mechanisms of identified gene variants in vitro and in vivo models. Moreover, his research group has performed a global transcriptomics and proteomics screening in human brain samples to analyze the expression and splicing status of GWAS-identified risk genes of AD and identified novel brain-derived targets in relation to AD-related pathology. Lately, his research group has focused on the mechanistic and translational aspects of microglia-specific genetic risk variants in AD and the common molecular mechanisms of AD-associated co-morbidities, such as type 2 diabetes and idiopathic normal pressure hydrocephalus (iNPH). Work experience: 2003-2006 Research Fellow, Department of Neurology, Massachusetts General Hospital/Harvard Medical School, Boston, USA; 2006-2013 Research Director and Group Leader, Institute of Clinical Medicine – Neurology, UEF, Kuopio, Finland; 2013-2014 Professor of Molecular Genetics, School of Medicine, Institute of Clinical Medicine – Neurology, UEF, Kuopio, Finland

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