IP: Dra. María de los Angeles Martínez de Pancorbo Gómez

Resumen del proyecto: This project will use a powerful study design to identify new genes which contribute to the development of Alzheimer’s disease (AD). To date the ten genes identified to associate with AD account for 32% of the genetic risk for AD. Rare variation is thought to account for a proportion of the missing heritability of AD.
This project will investigate the role of predominantly rare variants (seen in less than 5% of the population) in AD, it will also allow the investigation of mutations at the known AD risk genes which could have a biological affect and have not been investigated by previous AD studies. We will use a powerful sample of 10,000 AD cases, 5,000 elderly screened controls and 15,000 population controls to investigate 300,000 protein coding mutations across the genome; these have been chosen using information assembled from the DNA sequences of approximately 12,000 individuals. The project will develop new analytical approaches to pinpoint patterns of effect which implicate susceptibility genes in novel ways. In so doing it will build expertise in the analysis of rare and protein altering mutations. The identification of these genes will help understand the pathogenesis of disease and provide a platform for new treatments.

Entidad financiadora: Medical Research Council (UK)