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Functional Characterization of the Autophagy-Lysosomal Dysfunction in AD and PD

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We have successfully identified multiple novel genetic associations between AD and common and rare variants in endolysosomal genes ( PLD3, RAB10, GRN12, TMEM106B, CPAMD8, MS4A4A). Recently, we performed a systematic, comprehensive evaluation of the contribution of coding variants in each...

James Patton

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Biorepository

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This project aims to establish a repository of biosamples in patients with varying neurologic disorders. The proposed biorepository aims to collect a variety of high-quality biosamples and relate them to clinical information to support the accelerated identification of disease biomarkers for earlier...

Bruno A. Benitez Laboratory | BIDMC of Boston

The Benitez Lab is focused on a combination of state-of-the-art approaches in human genetic discoveries, functional genomic analyses with in vitro, and in vivo in AD or PD mouse models experiments.

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers

Publication: Journal Article

Benitez, BA, CM Karch, Y Cai, SC Jib, B Cooper, D Carrell, S Bertelsen, et al. 2013. “The PSEN1, P.E318G Variant Increases the Risk of Alzheimer’s Disease in APOE-ε4 Carriers”. PLoS Genet.

Missense variant in TREML2 protects against Alzheimer's disease

Publication: Journal Article

Benitez, BA, SC Jin, R Guerreiro, J Lord, D Harold, R Sims, JC Lambert, et al. 2014. “Missense Variant in TREML2 Protects Against Alzheimer’s Disease”. Neurobiol Aging.

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

Publication: Journal Article

Ibanez, L, U Dube, AA Davis, MV Fernandez, J Budde, B Cooper, M Diez-Fairen, et al. 2018. “Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease”. Front Neurosci.

Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease

Blog: July 20, 2023

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Velit Ipsa Nemo Dolores

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Impedit aliquid quas asperiores similique et. Dolores minus non qui deserunt. Sit Minima Eveniet Iusto Error. Quaerat eligendi occaecati nesciunt totam totam. Est ut commodi officiis. Dolor minus illo. Magnam eaque rerum suscipit sequi quae quisquam possimus. Rerum ipsum harum. Ea esse quis...

Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers

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Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers | Nature Communications