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Detailed molecular characterization of cell-specific transcriptomic states throughout multiple brain regions beyond nigrostriatal dopaminergic degeneration will provide mechanistic insights into both motor and non-motor PD symptoms. We will integrate neuropathology and snRNA-Seq data to identify a...

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.

Auger C, Kajimura S. Adipose Tissue Remodeling in Pathophysiology. Annu Rev Pathol. 2022 Sep 7;. doi: 10.1146/annurev-pathol-042220-023633. Abstract [Link] Wang Q, Li H, Tajima K, Verkerke ARP, Taxin ZH, Hou Z, Cole JB, Li F, Wong J, Abe I, Pradhan RN, Yamamuro T, Yoneshiro T, Hirschhorn JN...

Alums Postdoctoral Students and Fellows Mentored Qiang Wang, Ph.D. | 2017 – 2023 Program: Post-doc fellow Current Position: Principal Investigator at Tsinghua University Zachary Taxin, M.D., Ph.D. | 2020 – 2022 Program: Medical fellow Current Position: Instructor in Medicine at BIDMC Yasuo Oguri, Ph...