Mutations in myocilin (MYOC) are the most common genetic cause of primary open angle glaucoma (POAG), but the mechanisms underlying MYOC-associated glaucoma are not fully understood. Efforts to develop an animal model of POAG were not successful until we developed a transgenic mouse model (Tg-MYOCY437H) by inserting a human mutation into the mouse gene and expressed the mutant mouse gene in relevant eye tissues.
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucomaAugust 8th, 2011
July 18th, 2011
Development of treatments for Mendelian diseases will often require identification of disease-causing mutations and elucidation of the effect of these mutations on protein function. Wynn Institute scientists combined two relatively new technologies, exome sequencing and patient-derived induced pluripotent stem cells (iPSCs), to identify a new retinitis pigmentosa gene and demonstrate the pathogenic effect of its most common mutation.
June 23rd, 2011
Two researchers in the Institute for Vision Research at the University of Iowa Carver College of Medicine have been awarded grants by Research to Prevent Blindness, an organization that supports research into the causes, treatment and prevention of diseases that threaten vision.
Transplantation of Adult Mouse iPS Cell-Derived Photoreceptor Precursors Restores Retinal Structure and Function in Degenerative MiceApril 29th, 2011
This study was designed to determine whether adult mouse induced pluripotent stem cells (iPSCs), could be used to produce retinal photoreceptor precursor cells that could be used for retinal transplantation to restore retinal function in retinal degenerative hosts. iPSCs were generated using adult dsRed mouse dermal fibroblasts via retroviral induction of the transcription factors Oct4, Sox2, KLF4 and c-Myc.
January 26th, 2010
In previous work, we identified a stable complex (BBSome) consisting of eight proteins that binds PCM-1 and tubulin. Our data indicate that the BBSome performs an essential ciliogenic function at the basal body and inside the cilium. The cilia-related function of the BBSome is mediated, at least in part, through the Rab8 GDP/GTP exchange factor (Rabin8). The relationship between the BBSome and other BBS proteins was unknown.
March 3rd, 2008
To dissect the mechanisms involved in the metabolic disorders associated with BBS, we assessed the development of obesity in multiple BBS mouse models developed in our laboratory. We found that BBS mice are hyperphagic, have low motor activity, and elevated circulating levels of leptin. The effect of exogenous leptin on body weight and food intake is attenuated in BBS mice, suggesting that leptin resistance contributes to hyperleptinemia and obesity in these mice.