Ten 2012 Research Discoveries

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Thanks to your generous donations to the Foundation Fighting Blindness, Canadian researchers continue to make sight-saving discoveries. Here are 10 examples of progress made this year.

Understanding Vision and Vision Loss

Identifying the genes behind inherited retinal disease - With your support, Dr. Robert Koenekoop works with international colleagues to uncover genes associated with blindness and retinal disease. In 2012, they identified seven new genes where mutations can cause types of retinitis pigmentosa, Leber congenital amaurosis or cone-rod dystrophy. This work was published in the American Journal of Human Genetics, the Archives of Ophthalmology, and Nature Genetics. Learn more about one of these discoveries.

Creating a clearer picture for retinal prosthetics - In the retina, photoreceptors respond to light by sending an electrical signal though a network of nerve cells to the brain. When photoreceptor input is lost, Dr. Gautam Awatramani has shown that spontaneous surges of electricity occur in the remaining cells. People with vision loss often experience these surges as flashes of light. Your support of this research, publish in the Journal of Physiology, helps other scientists understand this phenomenon and may assist scientists building retinal prosthetics in correcting for this electrical noise.

Preserving Vision

A potential drug to stop retinal cell death - Cells in our retina communicate with each other using biochemical messages. Cells damaged by disease often self-destruct and tell other surrounding cells to do the same. Thanks to your donations, Dr. Andrew Waskiewicz and Dr. Ordan Lehmann use zebrafish to study these messages in one type of Leber congenital amaurosis. This year, at the Association for Research in Vision and Ophthalmology annual meeting, they revealed evidence that a drug called P7C3 could block these messages and protect retinal cells. Learn more.

Study of retinitis pigmentosa treatment may aid children with retinoblastoma - Dr. Rod Bremner studies proteins in the retina, which are activated in some types of retinitis pigmentosa. With your donations, he is studying drugs that can reduce the activity of these proteins potentially slowing vision loss. Early this year, his team published a paper in Oncogene, showing that this type of drug treatment may also have the potential to prevent eye tumours and other cancers in children with retinoblastoma. Learn more.

Can genetic testing improve age-related macular degeneration (AMD) treatment? - AMD is caused by many different factors and genetic tests are not routinely used for diagnosis. However, an international team, including Canadian genetics expert Dr. Robert Koenekoop, used these tests in a new way to understand the treatment outcomes for nearly 400 people receiving Lucentis for wet AMD.  Although Lucentis works in the majority of cases, this research (published in Ophthalmology) showed that people with certain combinations of mutations were less likely to benefit. Your support of this research could help identify people with AMD who may need more aggressive treatment.

Omega-3 fatty acids may have a role in preventing age-related eye disease - Dr. Yves Sauve and his colleagues are study the role of omega-3 fatty acids, particularly dietary supplements of DHA, on age-related macular degeneration. Your donations contributed to a paper by his team published this year in the journal Investigations in Ophthalmology and Vision Science. In this study, aging mice and mice with a dominant form of Stargardt disease were fed DHA supplements. In both cases, the treatment slowed vision loss. Dr. Sauve and his team have now begun a human trial of DHA supplements, the OMEGAlberta study.

A new way of screening existing drugs for retinitis pigmentosa (RP) - A drug developed for one condition can sometimes be useful to treat other conditions. How can we find drugs that might be useful for RP treatment? Dr. Orson Moritz has bred strains of frogs with different types of RP. By adding potential treatment drugs to the water of developing tadpoles, he and his team can quickly see the effects on the retina. Dr. Moritz and his team presented work this year showing that it takes about a month to perform a preliminary evaluation of a drug in this way. Your support meant he was able to share his methods for developing the frogs with other scientists in Methods in Molecular Biology.

Restoring Sight

Understanding how stem cells produce different cells

One promising approach to restore sight is to use stem cells to grow replacements for damaged retinal cells. While teams working on transplants are making advances, questions remain about stem cells. In the retina, stem cells can divide to produce two daughter stem cells, or two photoreceptors, or, astonishingly, two different cells. This year, Dr. Michel Cayouette shed new light on this process with work on the Numb proteinNumb has several roles in retinal development, but Dr. Cayouette showed that it must be present for a stem cell to produce two different daughters. This finding, published in The Journal of Neuroscience, has important implications for scientists working to produce pure cultures for transplant.

Producing large numbers of retinal cells for transplant

Dr. Derek van der Kooy has showed that it is possible to restore vision to mice by transplanting photoreceptors grown in the laboratory from retinal stem cells. Until recently his laboratory, and others, were only able to produce a small proportion of photoreceptors from each batch of stem cells. This year, thanks to your donations, his team published details of a new method that takes about four months to grow a batch of rod photoreceptors that is 90% pure. This is a dramatic improvement on past methods. They published their work in Biology Open allowing other scientists to learn from their efforts.

Spacing transplant cells out in the retina to enable sight-saving connections

When photoreceptors are transplanted into the eye, they tend to clump together preventing them from making connections with nerve cells to restore sight. This year, with support from our donors, Dr. Carol Schuurmans, Dr. Robert Cantrup and their colleagues made a unique finding about a molecule called PTEN, which regulates the growth of cells in the body. In a paper in PLoSOne, the team showed that this molecule can direct retinal cells to migrate in ordered arrays so that they evenly cover the entire retinal field and do not clump together.

Donors and volunteers like you make these advances possible. Thank you for your support of the Foundation Fighting Blindness. Your donations give hope to over 1 million Canadians living with retinal disease.

Posted December 17, 2012. Each description was reviewed by the scientists involved.

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