Characterization of the Genetics of Alzheimer's Disease

Described as the "disease of the century", Alzheimer's disease (AD) is one of the most feared diseases, affecting more or less all families. The projections from the PAQUID study, supplemented by estimates from the National System for Diagnosis and Care (SNDS), estimate that 1,750,000 people will suffer from dementia in 2030 in France. However, despite these already major impacts, our ability to manage this disease is limited, due to the lack of early diagnosis tools and an effective therapeutic arsenal. In this context, studying the genetic component of AD appears to be an essential approach because of its importance (estimated at between 60 and 80% of the attributable risk in twin studies)

This project, led by Jean-Charles Lambert, is going to sequence the whole genome of 10,000 patients with Alzheimer's disease in order to characterize the missing genetic component of this pathology associated with rare variants.

This project represents a unique opportunity to characterize the impact of rare and structural variants on the risk of developing Alzheimer's disease. This characterization will make it possible to better define the pathophysiological processes involved but also to better define subpopulations at risk of developing the pathology.