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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...

In 2011, we discovered that mutations in the DNAJC5 gene cause a neurodegenerative disease, the autosomal dominant form of neuronal ceroid lipofuscinosis (AD-ANCL). DNAJC5 encodes cysteine-string protein alpha (CSPα). In subsequent studies, we demonstrated in vitro and in vivo that CSPα plays a...

One of the research interests in our lab is focused on the deep-molecular characterization of a clinically well-defined cohort of patients anchored in genomic data. Alzheimer’s (AD) and Parkinson’s disease (PD) are heterogeneous disorders with identifiable clinical-pathological subtypes based on...

Benitez Lab current collaborators include: David Simon, Sam Frank, Lan Luo, Feng Tian, Daniel Press, Stephanie Buss, Subhash Kulkarni, P.A.I.N.T, and the Movement Disorders Center.

The National Institutes of Health (NINDS, NIA) provides funding for projects in our lab. We are also sincerely grateful to the patients, family members, and caregivers who donated their time, brains, and biospecimens for biomedical research. __________________________________________________________...