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School of Medicine
Shuying Sun, Ph.D.
Assistant Professor of Pathology
Dr. Shuying Sun is an assistant professor in Department of Pathology and Brain Science Institute at the Johns Hopkins University School of Medicine. Her research focuses on deciphering disease mechanisms and developing RNA-targeting therapeutic strategies for neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD).
Dr. Sun received her PhD training on the basic mechanisms of RNA processing, especially the regulation of alternative splicing. She then expanded her research repertoire to disease mechanism, therapy development, and mouse genetics during the postdoctoral training. Dr. Sun’s lab is interested in applying RNA Biology knowledge and technologies to decipher molecular mechanism of pathogenesis, identify novel biomarkers and promising drug targets for therapy development by combining innovative techniques and interdisciplinary approaches.
- Assistant Professor of Pathology
Departments / Divisions
- Pathology - Neuropathology
Centers & Institutes
- B.S., Shandong University (China) (2003)
- Ph.D., Stony Brook University (New York) (2010)
Postdoc fellow, University of California at San Diego (San Diego) (2016)
Research & Publications
The nervous system has extremely complex RNA processing regulation. Dysfunction of RNA metabolism has emerged to play crucial roles in multiple neurological diseases. Mutations and pathologies of several RNA-binding proteins, such as TDP-43, FUS/TLS, hnRNP A1 and A2B1, are found to be associated with neurodegeneration in ALS and FTD. An alternative RNA-mediated toxicity arises from micro-satellite repeat instability in the human genome. For example, hexanucleotide repeat expansion in C9orf72 is the most prevalent genetic cause of both ALS and FTD. The expanded repeat-containing RNAs could potentially induce neuron toxicity by disrupting protein and RNA homeostasis through various mechanisms.
The Sun lab is interested in deciphering the RNA processing pathways altered by the ALS-causative mutants to uncover the mechanisms of toxicity and molecular basis of cell type-selective vulnerability. Another major focus of the group is to identify small molecule and genetic inhibitors of neuron toxic factors using various high-throughput screening platforms. Her lab is also highly interested in developing novel CRISPR technique-based therapeutic strategies. The Sun lab seeks to translate the mechanistic findings at molecular level to therapeutic target development to advance treatment options against neurodegenerative diseases.
Lab Website: The Sun Laboratory
Sun S, Sun Y, Ling SC, Ferraiuolo L, McAlonis-Downes M, Zou Y, Drenner K, Wang Y, Ditsworth D, Tokunaga S, Kopelevich A, Kaspar BK, Lagier-Tourenne C, and Cleveland DW. (2015) Translational profiling identifies a cascade of damage initiated in motor neurons and spreading to glia in mutant SOD1-mediated ALS. Proc Natl Acad Sci U S A. 112(50): E6993-7002
Sun S, Ling SC, Qiu J, Albuquerque CP, Zhou Y, Tokunaga S, Li H, Qiu H, Bui A, Yeo GW, Huang EJ, Eggan K, Zhou H, Fu XD, Lagier-Tourenne C, Cleveland DW. (2015) ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP. Nature Communications 6: 6171
Sun S, Cleveland DW. (2012) TDP-43 toxicity and the usefulness of junk. Nature Genetics 44: 1289-91.
Sun S, Zhang Z, Fregoso O, Krainer AR. (2012) Mechanisms of activation and repression by the alternative splicing factors RBFOX1/2. RNA 18: 274-83
Sun S, Zhang Z, Sinha R, Karni R, Krainer AR. (2010) SF2/ASF autoregulation involves multiple layers of post-transcriptional and translational control. Nature Structural & Molecular Biology 17: 306-12
Activities & Honors
- Milton Safenowitz Post Doctoral Fellowship, Amyotrophic Lateral Sclerosis Association, 2011
- Target ALS Springboard Fellowship, Target ALS, 2014
- K99/R00 Pathway to Independence Award, NIH/NINDS, 2015