About Our Lab
The laboratory of Jun Yang, PhD, studies retinal degeneration diseases, mainly caused by photoreceptor cell death and retinal pigment epithelium malfunction. These potentially blinding conditions, including retinitis pigmentosa and macular degeneration, are hereditary and affect millions of people worldwide.
Although many genes have been identified as responsible for these diseases, their physiological functions and pathogenic mechanisms are not clear. Additionally, many causative genes are still unidentified. Currently, no cures for these diseases are available.
Working to Understand Retinal Degenerative Diseases
Dr. Yang’s laboratory research is focused on the disease mechanisms and therapeutic treatments for retinal degenerative diseases using mouse models. Her research group investigates the biological functions of genes whose mutations cause human retinal diseases. Using mouse models for these diseases, the group also studies how to treat these diseases by means of gene therapy.
Dr. Yang’s team is also interested in the cell biology of photoreceptors, especially the cellular processes of intracellular trafficking and structural maintenance. The research led by Dr. Yang is attempting to understand more about retinal degenerative diseases, identify more candidate causative genes, and provide tactics to design various therapies. Dr. Yang’s laboratory uses a combination of experimental approaches including molecular biology, cell biology, and biochemistry.
Research Interests
- Pathogenetic mechanisms of retinal degeneration
- Cell biology of photoreceptors
Funding
- NIH Funding FY24: Disease Mechanism of Usher Syndrome 2
- Other Federal Funding FY23: National Center for Advancing Translational Sciences (NCATS) Utah Translational Innovation Pilot (TIP) program grant
Research Publications
- Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations. Clark AM, Yu D, Neiswanger G, Zhu D, Zou J, Maschek JA, Burgoyne T, Yang J. JCI Insight. 2024 Jan 9;9(1):e162621.
- Adenylyl Cyclase 6 Plays a Minor Role in the Mouse Inner Ear and Retina. Mathur PD, Zou J, Neiswanger G, Zhu D, Wang Y, Almishaal AA, Vashist D, Hammond HK, Park AH, Yang J. Sci Rep. 2023 May 1;13(1):7075.
- USH2A Gene Mutations in Rabbits Lead to Progressive Retinal Degeneration and Hearing Loss. Nguyen VP, Song J, Prieskorn D, Zou J, Li Y, Dolan D, Xu J, Zhang J, Jayasundera KT, Yang J, Raphael Y, Khan N, Iannuzzi M, Bisgaier C, Chen YE, Paulus YM, Yang D. Transl Vis Sci Technol. 2023 Feb 1;12(2):26.
- Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment. Guan Y, Du HB, Yang Z, Wang YZ, Ren R, Liu WW, Zhang C, Zhang JH, An WT, Li NN, Zeng XX, Li J, Sun YX, Wang YF, Yang F, Yang J, Xiong W, Yu X, Chai RJ, Tu XM, Sun JP, Xu ZG. Adv Sci (Weinh). 2023 Jun;10(16):e2205993.
- Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy. de Joya EM, Colbert BM, Tang PC, Lam BL, Yang J, Blanton SH, Dykxhoorn DM, Liu X.Int J Mol Sci. 2021 Apr 10;22(8):3910.
- Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss. Yu D, Zou J, Chen Q, Zhu T, Sui R, Yang J. Comput Struct Biotechnol J. 2020 Jun 10;18:1363-1382.
- Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. Mathur PD, Yang J. Hear Res. 2019 Apr;375:14-24.