A photo of Ying Sun.

Professor, UC Department of Pediatrics



Biography & Affiliation


As a postdoctoral trainee at Cincinnati Children’s Hospital Medical Center, I became inspired by my mentor and by work on patient-related projects. These experiences led me to my current research interest in the molecular pathogenesis of and treatments for lysosomal storage diseases.

In our lab, we are working to understand the pathogenesis of Gaucher disease and other lysosomal storage diseases so that we can develop specific therapies. My research interests include glycosphingolipids metabolism in neurodegenerative disease, specifically lipidomics and transcriptome to the relationship of Gaucher disease and Parkinson’s disease. We also study pharmaceutical small molecule therapy and brain organoid modeling of Gaucher disease. Our research is supported by the National Institutes of Health, foundations and industry-sponsored programs.

We investigate the therapeutic value of induced pluripotent stem cell-derived neural progenitor cells on Parkinson’s disease by increasing lysosomal acid β-glucosidase. We are also exploring the role of progranulin, a novel factor of acid β-glucosidase, as a potential therapeutic treatment of Gaucher disease.

Our recent published research work includes a 2019 study in Human Molecular Genetics outlining a noninvasive cell therapy for neurogenerative disease, and a 2020 study in EBioMedicine highlighting a new treatment strategy using a nanovesicles-based system for neuronopathic Gaucher disease.

The ultimate goal of my research is to translate discoveries into effective therapies for treating Gaucher disease and other neurodegenerative diseases.

Research Interests

Molecular pathogenesis and therapy of lysosomal storage diseases; glycosphingolipids metabolism; neurodegeneration.

Academic Affiliation

Professor, UC Department of Pediatrics

Research Divisions

Human Genetics


PhD: Pharmacology, University of Cincinnati, Cincinnati, OH, 1992.

Post doctoral fellow: Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1996.


Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease. Peng, Y; Liou, B; Lin, Y; Fannin, V; Zhang, W; Feldman, RA; Setchell, KD R; Grabowski, GA; Sun, Y. Cells. 2021; 10.

Optimization of Eliglustat-Based Glucosylceramide Synthase Inhibitors as Substrate Reduction Therapy for Gaucher Disease Type 3. Wilson, MW; Shu, L; Hinkovska-Galcheva, V; Jin, Y; Rajeswaran, W; Abe, A; Zhao, T; Luo, R; Wang, L; Wen, B; et al. ACS Chemical Neuroscience. 2020; 11:3464-3473.

Biotherapy of Brain Tumors with Phosphatidylserine-Targeted Radioiodinated SapC-DOPS Nanovesicles. Davis, HW; Vallabhapurapu, SD; Chu, Z; Wyder, MA; Greis, KD; Fannin, V; Sun, Y; Desai, PB; Pak, KY; Gray, BD; et al. Cells. 2020; 9.

Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease. Sun, Y; Liou, B; Chu, Z; Fannin, V; Blackwood, R; Peng, Y; Grabowski, GA; Davis, HW; Qi, X. EBioMedicine. 2020; 55.

Lead Optimization of Benzoxazolone Carboxamides as Orally Bioavailable and CNS Penetrant Acid Ceramidase Inhibitors. Di Martino, S; Tardia, P; Cilibrasi, V; Caputo, S; Mazzonna, M; Russo, D; Penna, I; Realini, N; Margaroli, N; Migliore, M; et al. Journal of Medicinal Chemistry. 2020; 63:3634-3664.

One-off liver directed AAV gene therapy achieves long term uptake of acid beta-glucocerebrosidase by macrophages of affected tissues in Gaucher disease. Miranda, CJ; Chisari, E; Northcott, N; Pandya, J; Liou, B; Fannin, V; Blackwood, R; Dane, A; Kia, A; Canavese, M; et al. Molecular Genetics and Metabolism. 2020; 129.

The therapeutic effect of progranulin derived Pcgin on neuronopathic Gaucher disease. Zhao, X; Hettinghouse, A; Liou, B; Fannin, V; Blackwood, R; Liu, C; Sun, Y. Molecular Genetics and Metabolism. 2020; 129:s165-s166.

Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease. Schiffer, V; Santiago-Mujika, E; Flunkert, S; Schmidt, S; Farcher, M; Loeffler, T; Schilcher, I; Posch, M; Neddens, J; Sun, Y; et al. PLoS ONE. 2020; 15.

Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype. Liou, B; Zhang, W; Fannin, V; Quinn, B; Ran, H; Xu, K; Setchell, KD R; Witte, D; Grabowski, GA; Sun, Y. Scientific Reports. 2019; 9.

Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease. Peng, Y; Liou, B; Inskeep, V; Blackwood, R; Mayhew, CN; Grabowski, GA; Sun, Y. Human Molecular Genetics. 2019; 28:3406-3421.