Imelda Barber

TL;DR: Three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease are observed, providing additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's Disease.

TL;DR: The genetic and functional data indicate that carriers of PLD3 coding variants have a twofold increased risk for LOAD and thatPLD3 influences APP processing, and provides an example of how densely affected families may help to identify rare variants with large effects on risk for disease or other complex traits.

TL;DR: It is indicated that DLB has a unique genetic risk profile when compared with the two most common neurodegenerative diseases and that the lysosome may play an important role in the etiology of this disorder.

TL;DR: Despite the small sample size for a genome-wide association study, and acknowledging the potential biases from ascertaining samples from multiple locations, this study presents the most comprehensive and well powered genetic study in dementia with Lewy bodies so far.

TL;DR: Complete analyses using whole-exome sequencing data, cerebrospinal fluid biomarker analyses, meta-analyses and cell-based functional studies support the role of the TREML2 coding missense variant p.R47H (rs3747742) as a potential driver of the meta-analysis AD-associated genome-wide association studies signal.