Marian DiFiglia is a Professor of Neurology at Harvard Medical School and Director of the Laboratory of Cellular Neurobiology at Mass General Institute for Neurodegenerative Disease. 

Dr. Difiglia leads a multidisciplinary research team investigating the role of the Huntington’s disease mutation in the molecular and cellular events leading to neurodegeneration in Huntington’s disease (HD). She also investigates therapies aimed at reducing the levels of the HD disease protein in the brain. Her laboratory uses cell and animal models to study potential treatments for HD.

Select Publications

Tousley A, et al. Rac1 Activity Is Modulated by Huntingtin and Dysregulated in Models of Huntington's Disease. J Huntingtons Dis. 2019

Pfister El et al. Artificial miRNAs Reduce Human Mutant Huntingtin Throughout the Striatum in a Transgenic Sheep Model of Huntington's Disease. Hum Gene Ther. 2018 06; 29(6):663-673

Didiot MC, et al. A. Nuclear Localization of Huntingtin mRNA Is Specific to Cells of Neuronal Origin. Cell Rep. 2018 Sep 04; 24(10):2553-2560.e5

Quinti L,et al. KEAP1-modifying small molecule reveals muted NRF2 signaling responses in neural stem cells from Huntington's disease patients. Proc Natl Acad Sci U S A. 2017

Liu W, et al. Does the Mutant CAG Expansion in Huntingtin mRNA Interfere with Exonucleolytic Cleavage of its First Exon? J Huntingtons Dis. 2016