Drs. Harari, Benitez, Karch and Cruchaga leveraged biospecimens obtained from large and well-characterized human cohorts to identify a novel protective gene for Alzheimer disease, MS4A4A, that is also the major regulator of TREM2. This study provides a strong evidence of a biological link between TREM2 and MS4A4A in microglia in the context of AD. However, […]
Novel protective variants for Alzheimer’s Disease risk identified
A study led Dr. Kauwe lab and in collaboration with Drs. Karch and Cruchaga identified rare variants in RAB10 that protects against Alzheimer’s Disease risk. In this study Dr. Karch lab performed the functional studies and Dr. Cruchaga lab contributed genetic data. A video explaining the findings can be found below:
Using Genetics to predict risk for AD at individual level (Links to an external site)
Dr. Cruchaga discuss about the use of polygenic risk scores to predict individual level risk for Alzheimer and provide this data “direct-to-consumer”.
Leveraging IPS-derived neurons and brain tissue to identify novel genes implicated on Frontotemporal Dementia (Links to an external site)
R406W causes a specific form of frontotemporal dementia. We found that GABAergic dysfunction in postmortem tissue from people with sporadic FTD or progressive supranuclear palsy, but not in Alzheimer’s disease. Also highlighted in Alzforum: https://www.alzforum.org/news/research-news/stem-cell-model-nails-link-between-tauopathy-and-gabaergic-dysfunction
Analysis of TREM2 structure (Links to an external site)
Great collaboration with Dr. Brett and Colona lab
Harari and Cruchaga lab develop a new digital deconvolution for brain RNA-seq data (Links to an external site)
Our computer method determined the proportions of each cell type — neurons, astrocytes, oligodendrocytes, microglial cells — and found that specific gene variants were linked to different proportions of these cell types.