Category Archives: Retinitis Pigmentosa

MUMBAI, India, and GERMANTOWN, USA, Oct. 1, 2013 /PRNewswire/ --Sun Pharmaceutical Industries Ltd. (Reuters: SUN.BO, Bloomberg: SUNP IN, NSE: SUNPHARMA, BSE: 524715), an international specialty pharmaceutical company focused on chronic diseases, through its subsidiary, and Intrexon Corporation (XON), a leader in synthetic biology, today announced the formation of a joint venture to develop controllable gene-based therapies for the treatment of ocular diseases that cause partial or total blindness in millions of people worldwide. Initial targets are dry age-related macular degeneration (AMD), glaucoma and retinitis pigmentosa. The joint venture will leverage Sun Pharma's global capabilities and experience in developing and manufacturing complex dosage forms and specialty pharmaceuticals for niche therapy areas. Intrexon and Sun Pharma will share in both the financing of, and the revenues from, the joint venture. Through an Exclusive Channel Collaboration (ECC), the joint venture will have access to Intrexon's full suite of proprietary synthetic biology technologies, including the RheoSwitch Therapeutic System (RTS) platform. RTS is a clinically validated method for controlling the location, concentration and timing of protein expression. RTS may address a long-standing limitation of current approaches by enabling patients to receive a targeted biologic therapy without having to endure a lifetime of injections. In addition … Continue reading →

The author has posted comments on this articleRupali Mukherjee, TNN | Oct 1, 2013, 07.39PM IST MUMBAI: Domestic company, Sun Pharma and US-based Intrexon Corporation, announced the formation of a joint venture to develop controllable gene-based therapies for the treatment of ocular diseases that cause partial or total blindness in millions of people worldwide. Initial targets are dry age-related macular degeneration (AMD), glaucoma and retinitis pigmentosa. The joint venture will leverage Sun Pharma's global capabilities and experience in developing and manufacturing complex dosage forms and specialty pharmaceuticals for niche therapy areas. Intrexon and Sun Pharma will share in both the financing of, and the revenues from, the joint venture, says a company statement. Through an exclusive channel collaboration (ECC), the joint venture will have access to Intrexon's full suite of proprietary synthetic biology technologies, including the RheoSwitch Therapeutic System platform. RTS is a clinically validated method for controlling the location, concentration and timing of protein expression. RTS may address a long-standing limitation of current approaches by enabling patients to receive a targeted biologic therapy without having to endure a lifetime of injections. In addition to the initial targets, the companies intend to further expand the future pipeline of targeted ocular … Continue reading →

September 29, 2013 11:17:00 PM A legally blind Yuba City man has walked the equivalent of going from his home to New York City more than five times without venturing too far out of his neighborhood. Gene Shogren, 79, started walking four miles a day after suffering a heart attack in 2000, a few years after retiring from Valley Truck and Tractor, where he worked as a mechanic for 29 years. The avid hunter and fisherman was told by his doctor it would be good for him to take up walking. "I walk every day, rain or shine," Shogren said. "My eyesight had started to go, but didn't get real bad until my early 70s," he said. Shogren suffers from retinitis pigmentosa, an inherited eye disease that causes vision impairment and can lead to blindness. Shogren said he can see a little bit of color and shape but no details. "Everything looks foggy," he said. "I miss watching ballgames on the TV." Shogren said he usually gets up about 30 minutes before the sun comes up. Read more: Blind Yuba City man: ‘I walk every day, rain or shine’ … Continue reading →

Fort Lauderdale, Florida (PRWEB) September 26, 2013 On Saturday, November 9, 2013, the south Florida community will have the opportunity to walk at Hugh Taylor Birch State Park in Fort Lauderdale, in support of finding a cure for blinding retinal diseases. According to the Foundation Fighting Blindness, diseases such as macular degeneration, retinitis pigmentosa and Usher syndrome are currently affecting more than 10 million Americans. Florida Reading and Vision Technology Inc., leading national retailer of assistive technology for the blind and those suffering from low vision, is proud to participate in this event. I am deeply honored to be named Honorary Chair of the 8th Annual South Florida VisionWalk, states Lesa Kretschmer, CEO of Florida Reading and Vision Technology, Inc. This event is a wonderful opportunity for the south Florida community to come out and support the work the Foundation is doing to raise awareness and funds for those who have been living in darkness. Since 2006 VisionWalk has raised more than $27 million to support the mission of the Foundation Fighting Blindness: to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa (RP), macular degeneration, Usher syndrome, and the entire spectrum of … Continue reading →

Fairfax Australia Melbourne researchers are giving three blind patients a chance to see again. For the first time since they lost their sight, three patients given a bionic eye have been able to see their environment. The Australian patients trialling early prototype devices have been able to locate shapes on a screen after the device's camera was connected with a stimulator to produce an image using 20 electrodes. Previously, Dianne Ashworth, Murray Rowland and Maurice Skehan had seen only flashes or spots of light as each of the 20 electrodes in their 24-electrode bionic eye were activated for testing. Bionics Institute researcher Matt Petoe said the results demonstrated the patients had gone from being blind to having low vision. ''It's not just a toy that they have got on their head; they are actually proving, clinically, that they can see what's in front of them,'' Dr Petoe said. ''They are passing tests for functional vision.'' The milestone means patients in the trial have a working system that can convert real-world images into bionic vision, giving hope to millions of blind and vision-impaired people. Rowland, 51, has been blind since his late teens because of the genetic, degenerative eye condition retinitis … Continue reading →

Natcore Technology Issued U.S. Patent ?RED BANK, N.J., Sept. 17, 2013 /CNW/ - The U.S. Patent Office has awarded patent no. 8,433,417 to Newcyte Inc. for a carbon nanostructure artificial retinal implant. Newcyte was purchased in 2009 by Natcore Technology Inc. (NXT.V; NTCXF.PK; 8NT). "There are several other patents for artificial retinas," says Dr. Dennis Flood, Natcore's Chief Technology Officer and the inventor of the device. "But all of them have limitations. Some require the patient to have sight. Some restore only limited acuity, or the ability to detect motion or to distinguish between light and dark. Some are bulky and/or require prosthesis. Ours is a self-powered implant that doesn't require a camera, a transmitter, or any other external device. It would work as long as the patient's nerves are alive and only the rods and cones are affected. And it has the potential to be wavelength selective, so that color vision could be reintroduced to people whose only prospect now is a cloudy black-and-white." The need for this artificial retina is substantial. According to the American Society of Retina Specialists (ASRS), an estimated 15 million Americans have age-related macular degeneration (AMD). ASRS also says that retinitis pigmentosa, a genetic … Continue reading →

In the early, online edition of the Proceedings of the National Academy of Sciences, an international team led by investigators at the University of Lausanne describes a whole-genome sequencing-based search for new culprits in retinitis pigmentosa, a progressive degenerative disease that can eventually lead to blindness. By sequencing the genomes of eight North American and eight Japanese individuals with autosomal recessive forms of retinitis pigmentosa and comparing the sequences with those from 69 unaffected individuals, the researchers narrowed in on suspicious mutations in seven genes already implicated in the disease. They also detected a frameshift mutation affecting a new retinitis pigmentosa gene, NEK2, which was linked to retina-related features in follow-up zebrafish experiments. Researchers from the Massachusetts Institute of Technology and the University of Texas at San Antonio report on a set of developmental genes that appear prepared to spring into action in mouse sperm and egg cells, despite remaining silent. Using RNA sequencing as well as chromatin immunoprecipitation sequencing experiments focused on H3K4me3 and H3K27me3 chromatin marks that are typically found at the promoters of actively expressed genes and repressed genes, respectively the team tracked down silent-but-poised developmental genes in both male and female mouse germ cells. "[A]lthough these … Continue reading →

Public release date: 16-Sep-2013 [ | E-mail | Share ] Contact: Mary Leach Mary_Leach@meei.harvard.edu 617-573-4170 Massachusetts Eye and Ear Infirmary BOSTON -- Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision and is caused by mutations in more than 50 genes. Conventional methods for identification of both RP mutations and novel RP genes involve the screening of DNA coding sequences. In a paper in the Proceedings of the National Academy of Sciences, researchers from the Massachusetts Eye and Ear, Harvard Medical School, the University of Lausanne, Switzerland, and others tested DNA with the use of whole genome sequencing, a technique that takes into account all variants from both the coding and noncoding regions of the human genome. With this approach the authors report a number of unique RP mutations, a previously undescribed disease gene called NEK2 that involves the retinal photoreceptors, and structural DNA rearrangements originating in introns. This paper supports the advantages of the use of whole genome sequencing to search for mutations in patients with RP. The researchers performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in … Continue reading →

His visit to Buffalo on Saturday, strangely enough, began with a vision. Patrick Yarber had been a sports junkie since his childhood without ever playing in an official game. His career was limited to pickup football and road hockey with his friends, athletic accomplishments that literally and figuratively came to a close in the 1970s on his dead-end street in Dearborn Heights, Mich. Sports for him drowned in the family gene pool, a great injustice for a football lover who grew to 6-foot-6 and 280 pounds. His mother passed along retinitis pigmentosa, a disease that ultimately stole his peripheral vision. His father handed down macular degeneration, which over the years took away much of his central vision. Yarber these days is left with little in between other than diminished sight and a heightened passion for sports. Hes 53 years old, a single man with a single mission since his disability forced him into premature retirement from a collection agency. His fiercest opponent is time, a race between his eyes and the clock. It gets worse every day, he said. Yarber has 20 percent vision, but to view him as a legally blind man is failing to see the big picture. … Continue reading →

Sept. 16, 2013, 3 a.m. Brave new world: Murray Rowland and Dianne Ashworth both received bionic eyes, restoring some sight. Photo: Wayne Taylor Mr Rowland says he sees flashes of lightning in a storm. Photo: Wayne Taylor For the first time since they lost their sight, Australian patients given a bionic eye have been able to see their environment. The three patients trialling early prototype devices have been able to locate shapes on a screen after the device's camera was connected with a stimulator to produce an image using 20 electrodes. Previously, Dianne Ashworth, Murray Rowland and Maurice Skehan had seen only flashes or spots of light as each of the 20 electrodes in their 24-electrode bionic eye were activated for testing. Bionics Institute researcher Matt Petoe said the results demonstrated the patients had gone from being blind to having low vision. ''It's not just a toy that they have got on their head; they are actually proving, clinically, that they can see what's in front of them,'' Dr Petoe said. ''They are passing tests for functional vision.'' The milestone means patients in the trial have a working system that can convert real-world images into bionic vision, giving hope to … Continue reading →