Print Email Facebook Twitter Translational research in genomics of Alzheimer's disease: A review of current practice and future perspectives Title Translational research in genomics of Alzheimer's disease: A review of current practice and future perspectives Author Mihaescu, R. Detmar, S.B. Cornel, M.C. van der Flier, W.M. Heutink, P. Hol, E.M. Rikkert, M.G.M.O. van Duijn, C.M. Janssens, A.C.J.W. TNO Kwaliteit van leven Publication year 2010 Abstract Alzheimer's disease (AD) is the most prevalent form of dementia and the number of cases is expected to increase exponentially worldwide. Three highly penetrant genes (AβPP, PSEN1, and PSEN2) explain only a small number of AD cases with a Mendelian transmission pattern. Many genes have been analyzed for association with non-Mendelian AD, but the only consistently replicated finding is APOE. At present, possibilities for prevention, early detection, and treatment of the disease are limited. Predictive and diagnostic genetic testing is available only in Mendelian forms of AD. Currently, APOE genotyping is not considered clinically useful for screening, presymptomatic testing, or clinical diagnosis of non-Mendelian AD. However, clinical management of the disease is expected to benefit from the rapid pace of discoveries in the genomics of AD. Following a recently developed framework for the continuum of translation research that is needed to move genetic discoveries to health applications, this paper reviews recent genetic discoveries as well as translational research on genomic applications in the prevention, early detection, and treatment of AD. The four phases of translation research include: 1) translation of basic genomics research into a potential health care application; 2) evaluation of the application for the development of evidence-based guidelines; 3) evaluation of the implementation and use of the application in health care practice; and 4) evaluation of the achieved population health impact. Most research on genome-based applications in AD is still in the first phase of the translational research framework, which means that further research is still needed before their implementation can be considered. © 2010 - IOS Press and the authors. All rights reserved. Subject HealthLeefomgeving en gezondheidAlzheimer's diseasegenomicsreviewtranslational researchamyloid precursor proteinantidepressant agentantiinflammatory agentapolipoprotein C1apolipoprotein C2apolipoprotein Ebapineuzumabcholinergic receptor stimulating agentclathrin assembly proteinclozapinecomplement component C3b receptorcystatin Cdisrupted in schizophrenia 1 proteinendothelial nitric oxide synthasegalantaminegrowth factor receptor bound protein 2growth hormonemitochondrial transcription factor Aphosphatidylinositolphosphoenolpyruvate carboxykinase (GTP)presenilin 1presenilin 2progranulinrisperidonerosiglitazonesortilintau proteintransient receptor potential channel 4unindexed drugzinc finger proteinAlzheimer diseaseautosomal dominant inheritanceclinical trialdiagnostic accuracydifferential diagnosisdrug efficacyearly diagnosisevidence based medicineevidence based practicegene expression profilinggene locusgenetic analysisgenetic associationgenetic counselinggenetic polymorphismgenetic riskgenetic screeninggenetic variabilitygenomicsgenotypehealth care managementhigh risk patienthigh risk populationhumanincidencemedical researchpharmacogenomicspractice guidelinepredictionpriority journalreviewtreatment response To reference this document use: http://resolver.tudelft.nl/uuid:27a639a2-533d-423c-9272-0f32ba0e30af TNO identifier 408461 ISSN 1387-2877 Source Journal of Alzheimer's Disease, 20 (4), 967-980 Document type article Files To receive the publication files, please send an e-mail request to TNO Library.