Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene Therapy Cures Canines of Inherited Form of Day Blindness

22.04.2010
Veterinary ophthalmology researchers from the University of Pennsylvania have used gene therapy to restore retinal cone function and day vision in two canine models of congenital achromatopsia, also called rod monochromacy or total color blindness.

Achromatopsia is a rare autosomal recessive disorder with an estimated prevalence in human beings of about 1 in 30,000 to 50,000. It primarily affects the function of the cone photoreceptors in the retina and serves as a representative model for other more common inherited retinal disorders affecting cones. Cone function is essential for color vision, central visual acuity and most daily visual activities, which underlines the importance of the newly developed treatment.

The treatment cured younger canines regardless of the mutation that caused their achromatopsia. It was effective for the 33 months of the study and most likely is permanent; however, researchers also observed a reproducible reduction in the cone therapy success rate in dogs treated at 54 weeks of age or older.

The successful therapy in dogs was documented by the restoration of the cone function using electroretinography and by objective measure of day vision behavior. The behavioral results suggest that inner retinal cells and central visual pathways were able to usefully process the input from the recovered cones.

The results represent the second successful cone-directed gene replacement therapy in achromatopsia animal models and the first outside of mouse models. The gene therapy targets mutations of the CNGB3 gene, the most common cause of achromatopsia in humans. Achromatopsia-affected dogs represent the only natural large animal model of CNGB3-achromatopsia.

The results hold promise for future clinical trials of cone-directed gene therapy in achromatopsia and other cone-specific disorders.

“The successful restoration of visual function with recombinant adeno-associated virus-mediated gene replacement therapy has ushered in a new era of retinal therapeutics,” said András M. Komáromy, assistant professor of ophthalmology at the Penn School of Veterinary Medicine and lead author of the study.

Many vision-impairing disorders in humans result from genetic defects, and, to date, mutations have been identified in ~150 genes out of ~200 mapped retinal disease loci. This wealth of genetic information has provided fundamental understanding of the multiple and specialized roles played by photoreceptors and the retinal pigment epithelium in the visual process and how mutations in these genes result in disease. Together with the development of gene-transfer technologies, it is now possible to realistically consider the use of gene therapy to treat these previously untreatable disorders.

The article, available online in advance of its publication in the journal Human Molecular Genetics, was conducted by Komáromy, Jessica S. Rowlan and Gustavo D. Aguirre of the Department of Clinical Studies at Penn Vet; Monique M. Garcia, Asli Kaya and Jacqueline C. Tanaka of Temple University; John J. Alexander of the University of Florida and the University of Alabama; Vince A. Chiodo and William W. Hauswirth of the University of Florida; and Gregory M. Acland of Cornell University.

Research was supported by the National Eye Institute of the National Institutes of Health, the Foundation Fighting Blindness, the Macula Vision Research Foundation, the McCabe Fund, the ONCE International Prize, the Van Sloun Fund for Canine Genetic Research, Hope for Vision and Brittany Rockefeller and family.

Hauswirth and the University of Florida have a financial interest in the use of rAAV therapies and own equity in Applied Genetic Technologies Corp., a company that may commercialize some aspects of this work. The University of Pennsylvania, the University of Florida and Cornell University hold a patent on the described gene-therapy technology.

Note to journalists: Short digital movies of canine subjects with restored day vision are available and may be viewed at the Penn Current, http://www.upenn.edu/pennnews/current/latestnews/042110.html

Jordan Reese | EurekAlert!
Further information:
http://www.upenn.edu

More articles from Health and Medicine:

nachricht Using fragment-based approaches to discover new antibiotics
21.06.2018 | SLAS (Society for Laboratory Automation and Screening)

nachricht Scientists learn more about how gene linked to autism affects brain
19.06.2018 | Cincinnati Children's Hospital Medical Center

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Temperature-controlled fiber-optic light source with liquid core

In a recent publication in the renowned journal Optica, scientists of Leibniz-Institute of Photonic Technology (Leibniz IPHT) in Jena showed that they can accurately control the optical properties of liquid-core fiber lasers and therefore their spectral band width by temperature and pressure tuning.

Already last year, the researchers provided experimental proof of a new dynamic of hybrid solitons– temporally and spectrally stationary light waves resulting...

Im Focus: Overdosing on Calcium

Nano crystals impact stem cell fate during bone formation

Scientists from the University of Freiburg and the University of Basel identified a master regulator for bone regeneration. Prasad Shastri, Professor of...

Im Focus: AchemAsia 2019 will take place in Shanghai

Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.

Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...

Im Focus: First real-time test of Li-Fi utilization for the industrial Internet of Things

The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.

Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.

Im Focus: Sharp images with flexible fibers

An international team of scientists has discovered a new way to transfer image information through multimodal fibers with almost no distortion - even if the fiber is bent. The results of the study, to which scientist from the Leibniz-Institute of Photonic Technology Jena (Leibniz IPHT) contributed, were published on 6thJune in the highly-cited journal Physical Review Letters.

Endoscopes allow doctors to see into a patient’s body like through a keyhole. Typically, the images are transmitted via a bundle of several hundreds of optical...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Munich conference on asteroid detection, tracking and defense

13.06.2018 | Event News

2nd International Baltic Earth Conference in Denmark: “The Baltic Sea region in Transition”

08.06.2018 | Event News

ISEKI_Food 2018: Conference with Holistic View of Food Production

05.06.2018 | Event News

 
Latest News

What are the effects of coral reef marine protected areas?

21.06.2018 | Life Sciences

The Janus head of the South Asian monsoon

21.06.2018 | Earth Sciences

The world's tiniest first responders

21.06.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>