Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Darius Ebrahimi-Fakhari, M.D.

Title
Institution
Department
Address
Profile Picture

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.

Featured Content

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
Updating...
This operation might take several minutes to complete. Please do not close your browser.
Local representatives can answer questions about the Profiles website or help with editing a profile or issues with profile data. For assistance with this profile: HMS/HSDM faculty should contact contactcatalyst.harvard.edu. For faculty or fellow appointment updates and changes, please ask your appointing department to contact HMS. For fellow personal and demographic information, contact HMS Human Resources at human_resourceshms.harvard.edu. For faculty personal and demographic information, contact HMS Office for Faculty Affairs at facappthms.harvard.edu.
Ebrahimi-Fakhari's Networks
Click the
Explore
buttons for more information and interactive visualizations!
Concepts (325)
Explore
_
Co-Authors (107)
Explore
_
Similar People (60)
Explore
_
Same Department 
Explore
_
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.