Recent News

  • RPE65 Gene Therapy Update
    December 27th, 2017

    The pharmaceutical company Spark Therapeutics recently announced FDA approval1,2 of a gene therapy known as Luxturna, which has been shown to improve vision in patients with an extremely rare inherited eye disease caused by mutations in the gene RPE65. Scientists estimate this disease to occur in less than one in 500,000 people – or about 560 people total in the United States3,4.

    The company has priced the drug at $425,000 per eye ($850,000 per patient), which does not include the cost of the surgery5.

  • Assessment of AAV Serotype Tropism in Human Retinal Explants
    November 30th, 2017

    Scientists at the WIVR recently published a report in which they tested the efficiency and retinal cell type targeted by 7 different serotypes of adeno-associated virus (AAV) in the human retina. This paper is significant as most testing of AAVs is performed in animal models such as mice, rats, pigs and monkeys. In this report, WIVR investigators developed a protocol for culture of human donor retinas that allowed for the assessment of AAVs ex vivo.

  • BBSome Required for Photoreceptor Maintenance
    October 24th, 2017

    A new publication from the laboratory of Val Sheffield, M.D., Ph.D., focuses on the role of a specific protein complex found in photoreceptor cells and its role in retinal degeneration in a blinding disorder known as Bardet-Biedl syndrome (BBS). This protein complex is called the BBSome. Ying Hsu and Janelle Garrison, a graduate student and postdoctoral fellow respectively, who performed much of the work, demonstrated that the BBSome is indispensable for the initial formation and continued maintenance of the outer segment, the light sensing component of photoreceptor cells.

  • Sam's Scramble for Sight 2017
    October 5th, 2017

     

  • Efficacy and Safety of an AAV-RPE65 Treatment
    July 18th, 2017

    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.

  • Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
    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.

  • 3D printing retinal scaffolds for patient-specific treatment with retinal precursor cells
    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

  • Patient-specific iPSCs to investigate TRNT1-associated RP
    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.

  • Gene Therapy of CLN3 Batten disease
    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). 

  • Personal Story - Ken Gray
    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.

Pages

more news