AT A GLANCE Project Information
Project Title: LOAD: Functional genomics of late- onset Alzheimer’s disease
Project Objective: The project deals with functional genomics of late-onset Alzheimer’s disease (LOAD) risk genes, a major bottleneck in the current Alzheimer research. The project combines analysis of risk gene expression and splicing in three disease stages in patient brains with in vitro RNAi- based characterisation of functional association to known AD-related biological processes. This addresses the sore need in rapid functional characterisation of disease-associated genes in the post-GWAS era.
Project Funding: Finnish Academy, FP7 funding, Private foundations
been used,” says Huttunen. “Heterogeneity, particularly when you don’t know the underlying aetiology of a disease very well, is never a good place to start a trial. We want to start taking a personalised medicine outlook so that in the future, proceeding with certain therapeutic approaches will occur based on the patient’s genetic background.”
Looking to the future Hiltunen believes that the future of his research lies in continuing with strong
using the tools we’ve developed for different kinds of screens, whether it’s a genetic screen using different
types of
siRNA libraries, or screening small molecule compound libraries to modify the pathways that we’re interested in,” says Huttunen. “The future of this integrated functional analysis is going to be centrally important. There are a lot of genes to characterise in Alzheimer’s alone.” The integrated functional genomic approach
for the rapid functional characterisation of disease-associated genes appears to be
Project Partners: University of Eastern Finland, University of Helsinki
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“In the future, we want to combine data from every possible source: DNA, cerebrospinal fluid, saliva, plasma, MRI scans and more, to create a comprehensive biomarker-based prediction tool”
basic genetic research synergised with data from other groups, but that the most important
goal is to translate the
information into practical methods of predicting LOAD as early as possible. Mild cognitive impairment is often one of the earliest signs of LOAD, and so it is vital to target people showing those symptoms as soon as possible. Work at the University of Helsinki will
continue down its path of cellular molecular research. “We are interested in
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working for LOAD. “The beauty of this way of working is that there is nothing methodologically that limits it to Alzheimer’s disease,” says Hiltunen. “We have a sort of pipeline that we can push things through and in the end get information that will be the foundation of personalised medicine.” In fact, the concept could potentially be used for any number of similarly complex diseases, including many other neurodegenerative diseases. In the post-genomic era, the data is there to be exploited.
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Professor Mikko Hiltunen Mikko Hiltunen is a Professor of Molecular Genetics at the University of Eastern Finland. He is responsible for genetic, epigenetic and functional studies related to Alzheimer’s disease. He has published over 140 scientific articles. He has worked as an invited research grant reviewer and domain expert for several scientific institutions.
Contact: Tel: +358403552014 Email:
mikko.hiltunen@uef.fi Web:
http://www.uef.fi/fi/neuro/ genetics
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