MS4A4A is the mayor regulator of TREM2 levels

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, […]

Drs. Cruchaga and Karch receive new funding to advance personalized medicine in Alzheimer Disease

Drs. Cruchaga and Karch are some of the Washington University investigators that received funding from Centene to perform molecular phenotyping of Alzheimer’s cases to identify novel molecular biomarkers and the identification of novel therapeutically targets. Specifically we plan to develop a personalized medicine approach to understand the effects of Alzheimer’s disease risk genes by combining […]

Leveraging IPS-derived neurons and brain tissue to identify novel genes implicated on Frontotemporal Dementia

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  

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:    

Genetics Tie ALS into the Frontotemporal Dementia Spectrum

Dr. Celeste Karch, Washington University, St. Louis, and Rahul Desikan, University of California, San Francisco, used genome-wide association data from nearly 125,000 individuals to search for commonalities with six other neurodegenerative diseases.

Our work presented at the AAIC2017 was highlighted by Alzforum

Geneticists are inventing new ways to hunt AD variants that went undetected in GWAS and might shed light on AD pathogenesis. Many labs are searching for polymorphisms tied to specific quantitative traits. As Yuetiva Deming from Carlos Cruchaga’s group at Washington University, St. Louis, pointed out, GWAS identify risk variants but say nothing about how that risk manifests

PLD3 a new AD gene (Nature)

Our last study, published in Nature identified a new gene (PLD3) for Alzheimer’s disease. In this study, in which all the members from the lab (Peter Jin, Bruno Benitez, Yefei Cai, Jiyoon Choi and Breanna Cooper) and were involved, as well as several members from Dr. Goate lab, used exome-sequencing in late-onset (AD) families to […]