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Molecular genetics of early-onset Alzheimer's disease.
Early-onset Alzheimer's disease (AD) is a fatal neurodegenerative dementia occurring in mid-life (onset of disease between 30 and 65 years) that is severely disruptive for patients and their relatives. An estimated 3000 to 11000 people have early-onset AD in Belgium. Early-onset AD has a strong genetic component, but the majority of the genetic etiology is still unresolved, as mutations in the known dementia genes and the genetic risk conferred by APOE ε4 do not explain more than 10-20% of the occurrence of early-onset AD. The aim of this project is to further unravel the genetic etiology of early-onset AD beyond pathogenic mutations in the known dementia genes by combining a well-documented homogeneous study population with the newest technologies in molecular genetics, to come to a fuller understanding of the pathogenesis of AD. We will employ family-based studies to identify novel pathogenic mutations and rare variants, and we will perform population based whole genome studies to identify potential recessive causes of disease, as well as common genetic risk factors, rare variants and modifying factors. Promising genetic variants will be followed up by functional characterization, genotype-phenotype correlation studies and translation into biomarkers.
Date:1 Jan 2011 → 31 Dec 2014
Keywords:GENE IDENTIFICATION, NEUROCOGNITIVE DISORDERS, DEMENTIA, ALZHEIMER'S DISEASE, MOLECULAR GENETICS, GENE LOCALISATION, DIAGNOSTICS, GENE SEARCH
Disciplines:Genetics, Systems biology, Molecular and cell biology, Neurosciences, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing