ying-hsu@uiowa.edu
Mentor: Val Sheffield, M.D./Ph.D.
Lab Room: 4171 MERF
Lab Phone: 319-335-7311

Mechanisms of hydrocephalus in Bardet-Biedl syndrome

Bardet-Biedl syndrome is characterized by a spectrum of disorders including obesity, retinal degeneration, polydactyly, renal dysfunction, and hydrocephalus. Bardet-Biedl syndrome is caused by mutations in one or more of the BBS genes, which are involved in the formation of cilia in the cell. Cellular cilia serves as the signaling and trafficking center. Recently, it has been found that deletion of BBS genes affect the survival of progenitor cells due to their defects in sensing proliferation cues through cilia. My current research focuses on the mechanism of hydrocephalus development in BBS using mouse models.

Hsu Y, Garrison JE, Kim G, Schmitz AR, Searby CC, Zhang Q, Datta P, Nishimura DY, Seo S, Sheffield VC. BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment. PLoS Genet. 2017 Oct 19;13(10):e1007057. doi: 10.1371/journal.pgen.1007057. [Epub ahead of print] PubMed PMID: 29049287.