The RPE65 gene therapy study group at the Wynn Institute for Vision Research at the University of Iowa and The Center for Molecular and Children’s Hospital of Philadelphia published a paper in the journal, The Lancet, which showed the safety and effectiveness of voretigene naparvovec (the "new" name of AAV-RPE65 ) in a phase 3 FDA trial. This is an important milestone for gene therapy. As Dr. Stone recently published in the journal Ophthalmology, most inherited retinal degeneration genes will fit into the adeno-associated viral vector tested in this study.
Recent News
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July 18th, 2017
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June 1st, 2017
A team of WIVR investigators undertook the molecular investigation of 1000 consecutive families with inherited retinal disease. This study validated the clinically directed tiered testing strategy employed by the Carver Nonprofit Genetic Testing Laboratory at the University of Iowa, which increases sensitivity and improves statistical significance without increasing cost.
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March 30th, 2017
A new WIVR study shows that high-resolution 3D-printing can be used to create protective scaffolds that also align patient-specific retinal precursor cells for delivery to the sub-retinal space.
http://www.sciencedirect.com/science/article/pii/S174270611730209X
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March 18th, 2017
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.
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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).
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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.
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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.
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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.
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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.
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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.