We continue to be a contributor to the reanalysis of large tracts of genome wide association data and much of this work, which identifies several new loci, and a converging molecular pathway, has been published. We have expanded this work to characterize the extent of genetic variability at the CLU and PICALM loci, and to examine the role of variants in these and other loci as quantitative trait loci. In this respect our efforts have used the reference data generated within our laboratory that facilitates testing association between candidate variants and gene expression and/or proximal DNA methylation. In addition, we are currently working with collaborators at UCL to perform exome sequencing on families and individuals with Alzheimer's disease;this work aims to identify moderate- to high-risk variants associated with disease. Most recently our efforts using second generation sequencing have lead to the identification of TREM2 variants as a risk factor for Alzheimer's disease.

National Institute of Health (NIH)
National Institute on Aging (NIA)
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Guerreiro, Rita; Escott-Price, Valentina; Darwent, Lee et al. (2016) Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiol Aging 38:214.e7-10
Sassi, Celeste; Ridge, Perry G; Nalls, Michael A et al. (2016) Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease. PLoS One 11:e0150079
Barber, Imelda S; García-Cárdenas, Jennyfer M; Sakdapanichkul, Chidchanok et al. (2016) Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease. Neurobiol Aging 39:220.e1-7
Bras, Jose; Djaldetti, Ruth; Alves, Ana Margarida et al. (2016) Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation. Neurobiol Aging 46:236.e1-6
Desikan, R S; Schork, A J; Wang, Y et al. (2015) Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Mol Psychiatry 20:1588-95
(2015) Common genetic variants influence human subcortical brain structures. Nature 520:224-9
Sassi, Celeste; Guerreiro, Rita; Gibbs, Raphael et al. (2014) Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging 35:2881.e1-6
Benitez, Bruno A; Jin, Sheng Chih; Guerreiro, Rita et al. (2014) Missense variant in TREML2 protects against Alzheimer's disease. Neurobiol Aging 35:1510.e19-26
Guerreiro, Rita; Bras, Jose; Hardy, John et al. (2014) Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet 23:R47-R53
Cruchaga, Carlos; Karch, Celeste M; Jin, Sheng Chih et al. (2014) Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 505:550-4

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