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Darius Ebrahimi-Fakhari, M.D.

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Biography
Ruprecht-Karls Universität Heidelberg, Heidelberg, GermanyMD04/2013Medicine
Ruprecht-Karls Universität Heidelberg, Heidelberg, GermanyPhD04/2013Neurobiology
University Hospital Heidelberg, Heidelberg, Germany04/2014Pediatrics
Harvard Medical School, Boston, MA07/2016Neurobiology
Boston Children's Hospital, Boston, MA07/2018Pediatrics
Boston Children's Hospital, Boston, MA07/2021Child Neurology

Overview
Dr. Ebrahimi-Fakhari s research interests cover childhood-onset neurogenetic, neurodegenerative, and movement disorders. He leads a translational research program that aims to discover novel therapies for childhood-onset forms of hereditary spastic paraplegia and disorders related to the autophagy pathway. Current work covers gene discovery, natural history studies in patients, disease modeling in iPSC-derived neurons and zebrafish, and high-throughput small molecule screens and CRISPR screens. Work over the last years has focused on the role of adaptor protein complex-mediated protein trafficking in neurons using AP-4-associated hereditary spastic paraplegia as a tractable model. We established that AP-4 cargo proteins, ATG9A and DAGLB, are mislocalized in AP-4 deficient cells, including in neurons derived from patients. Building on this cellular phenotype, we developed a high-throughput assay for small molecule and functional genomics screens. Ongoing work is testing the hypothesis that small molecule modulators of protein trafficking, identified using our high-content imaging platform, can restore key cellular mechanisms in AP-4-associated hereditary spastic paraplegia in vitro and in vivo.

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.