Post-GWAS in Alzheimer’s disease : where next ? More biology !

Orateur : Dr. Jean-Charles Lambert (Institut Pasteur de Lille)

Alzheimer’s disease (AD) is the leading cause of dementia. The main pathological features of AD are neurofibrillary tangles and senile plaque formation. The latter is caused by the progressive deposition of amyloid β protein (Aβ) in the brain. There is no longer any doubt that a strong genetic predisposition exists (accounting for 60% to 80% of the attributable risk). To characterize genetic components in AD, we and others have developed systematic, high-throughput genomic approaches (as part of genome-wide association studies, GWASs) and reported the characterization of 21 common genetic determinants of AD. However, GWASs lead to select genes without predetermined ideas about their functions and it can be difficult to replace these genes in the AD pathophysiological context. Within this background, we focused on BIN1 (bridging integrator 1), one of the main GWAS-defined genes and developed different approaches to assess the molecular mechanism by which BIN1 protein might modulate the disease process in AD. We identified BIN1 as the first potential genetic risk factor for AD linked to tauopathy.
Lieu : http://www.eccami.com/download/acces_amphi_Roget-%20boucherle.pdf
Contact : Yves Goldberg <yves.goldberg@ujf-grenoble.fr>

Télécharger dans mon agenda