Human Genetics
Sun Lab

Sun Research Lab

The Sun Lab, led by Ying Sun, PhD, is focused on understanding the pathogenesis of Gaucher disease and other lysosomal storage diseases for development of specific therapies, and the roles of saposins in glycosphingolipids metabolism and neurodegeneration.

Gaucher disease is a recessive inherited genetic disease and a common lysosomal storage disease caused by mutations at the GBA1 locus that lead to insufficient activity of β-glucosidase. The resultant cellular accumulation of glucosylceramide and glucosylsphingosine in Gaucher disease initiates pathological processes. Gaucher disease is classified to three clinical phenotypes: type 1 presents as a visceral disease that can be treated by enzyme therapy. Types 2 and 3 are central nervous system (CNS) degenerative diseases of childhood that have no effective CNS treatment. The GBA1 mutations in the homo- or heterozygote states have been linked to the neurodegenerative diseases, Parkinson's disease and Lewy body disease. The Sun Lab has taken approaches including molecular and cellular biology, mouse models, transcriptomic and lipidomic analyses, and iPSC technology to investigate the disease process and to conduct preclinical studies. The ultimate goal is to translate the research discovery to effective therapies for treating Gaucher disease and other neurodegenerative diseases.

Saposins are a family of small lysosomal proteins that act as activator for respective lysosomal glycosphingolipids degrading enzymes. Their precursor, prosaposin, has neurotrophic function. Dr. Sun ‘s team  has demonstrated the tissue specific roles of saposins in glycosphingolipids metabolism and neurodegeneration using saposin deficient mouse models. Future studies will be directed to delineate the mechanism of prosaposin/saposins in neurodegeneration.

Contact Us

A photo of Ying Sun.

Ying Sun, PhD
UC Department of Pediatrics

Phone: 513-636-0344

Division of Human Genetics
Cincinnati Children’s Hospital Medical Center
R Building Rm. 1401
3333 Burnet Ave.
Cincinnati, OH 45229