A team of WIVR researchers have developed patient-specific iPSCs, which will provide a platform for testing multiple treatments in patients suffering from TRNT1-associated RP. We previously identified novel hypomorphic mutations in the tRNA Nucleotidyl Transferase, CCA-Adding 1 (TRNT1) gene that cause early-onset RP. Mutations in TRNT1 caused reduced levels of full-length TRNT1 protein and a deficit in autophagy in both patient-specific iPSCs and iPSC-derived retinal organoids.
Recent News
-
March 18th, 2017
-
September 27th, 2016
A recent WIVR study demonstrating the development of a gene therapy vector for treatment of CLN3 Batten disease was circulated as an article of interest by the journal, Human Gene Therapy (LINK).
-
August 22nd, 2016
Ken Gray shares the story of his experience with blue cone monochromacy. His thoughtful discussion highlights his own path in furthering his understanding of the disease and it's progression, the discovery of the mutation causing his disease, and the impact this discovery has had for both himself and his family. Mr. Gray then outlines the steps forward in treating and curing patients with blue cone monochromacy.
-
May 16th, 2016
In this month's CP Stem Cell Biology, we have a brand new protocol describing a method for the sectioning and immunohistochemistry of 3-D organoids (a miniature organ produced in vitro). You can check out the full paper here. In brief, this is a protocol for using iPSC-derived 3-D organoids to assess developmental processes that occur during the formation of the organoid.
-
November 6th, 2015
In March 2015, the WIVR participated in a Congressional Briefing on Usher Syndrome. During that briefing, Dr. Stone outlined the WIVR’s roadmap for the cure of this disease.
Speakers at this briefing included Mark & Bella Dunning, and Moira Shea (Usher Coalition), Congressman David Young (R-Iowa), and Dr. Edwin Stone. A video of this briefing is available on YouTube.
-
October 26th, 2015
Today, researchers of the Wynn Institute for Vision Research announced the discovery of the gene responsible for the inherited macular disease known as North Carolina Macular Dystrophy (NCMD). This discovery was electronically published on the same date in the journal Ophthalmology (LINK). The project was a collaborative effort of 20 scientists, including Kent Small, M.D., a Los Angeles retina specialist and first author of the paper, who has studied NCMD for almost 30 years.
-
October 26th, 2015
WIVR investigators have just reported the discovery of a new genetic cause of retinitis pigmentosa (LINK). The gene TRNT1 is responsible for adding the CCA nucleotides to the 3' of tRNAs, and is therefore essential for translation of messenger RNAs into proteins. Severe genotypes in TRNT1 have been previously shown to cause a serious syndromic disorder that includes sideroblastic anemia.
-
July 3rd, 2015
Preclinical study by WIVR researchers finds adverse immune response to allogenic subretinal stem cell transplantation. (PDF) We generated retinal pigment epithelial cells from the skin of one strain of pig and successfully implanted them under the retina of unrelated pigs and found that this induced an immune response in the host, which is concerning for graft rejection. These findings suggest that immunologically matched cells will be important for retinal cell replacement.
-
April 13th, 2015
The University of Iowa Stephen A. Wynn Institute for Vision Research announced today two large steps forward in the battle against blinding eye disease. Both are made possible by a major gift from California businessman, photographer, environmentalist and philanthropist Howard F. Ruby.
-
December 5th, 2014
Scientists at the WIVR recently published a manuscript in the high impact journal, Progress in Retinal and Eye Research, titled "Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy." LINK This manuscript reviews new data showing vascular loss as a very early event in age-related macular degeneration, proposes a hypothesis for how genetic risk factors lead to AMD, and discusses the implications of this model on the development of new therapies.