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Dining in the Dark

by
Amy Cullinan, Ph.D.
| Jul 21, 2014

In a ballroom of the U.S. Grant Hotel, the glowing exit signs were covered in black paper. Between large round tables elegantly set for dinner, stanchions were set up with ropes forming corridors leading towards the doors. After the salads and wine were served, and with plenty of warning, the lights were cut for a few seconds to let us know just how dark it was going to be. We were given a few minutes to find the restrooms and turn off our phones before the night vision-goggled technicians plunged the room into complete obscurity. Dining in the Dark, the Foundation Fighting Blindness main event of the evening, was about to get underway.

The Foundation Fighting Blindness is the world’s leading private source for retinal disease research funding. I had the pleasure of joining them on a recent spring evening in San Diego as the Foundation presented community and business Visionary Awards honoring Dr. Richard Klausner, Illumina’s Senior Vice President and Chief Medical Officer as well as Larry Bock, the Founder of the USA Science and Engineering Festival (coincidentally, a co-founder of Illumina and quite a few other companies).

Our waitstaff were all vision impaired local volunteers– our server “Angel” lost her vision to scarlet fever when she was a year old. In the darkness, she helped us navigate our entrees and sang us a few bars of her favorite country songs. After the slumber-party giggles of the dining guests faded, I began to notice voice directionality. You could only talk to the person on your left or right, whereas before lights-out, cross chatting occurred around the table. One of my dinner partners made a comment about the texture of the chicken and I found myself nodding before foolishly realizing that I had to voice my agreement. I picked up a hint of coconut flavor in the steamed vegetables, that I probably would not have noticed, and admired the crispy skin of the potatoes. At some point I wondered when to stop eating—when I felt full, or since I could not see, when whatever remained on the plate was out of fork’s reach? One bold guest at our table successfully poured and passed around several glasses of wine, and was only mildly chagrined when (after the lights came up 25 minutes later) the cabernet bottle was placed squarely in the butter dish. All throughout the entrée course, Angel checked on each guest at our table with cheerful precision. And just a bit of sadness in her voice when she announced the lights would soon be back on for us, without mentioning that they’d probably never be on for her.

The Fundamental Role of Basic Research

Inherited retinal degenerative diseases are commonly caused by single gene mutations, and since 1989, more than 200 genes have been identified that play a role in these conditions. Understanding the underlying genes, corresponding cellular mechanisms, disease etiology, and factors that influence progression can spur new therapeutic strategies. Many of the steps along these paths that used to take years or even decades to perform can now be done in months thanks to advances in genomic sequencing and informatics technologies.

Advanced scientific tools would not have much use if they were not in the hands of hundreds of capable researchers armed with adequate funding, such as that secured by the Foundation Fighting Blindness. FFB supports both individual and collaborative global retinal degenerative research efforts. By applying the latest technologies for gene sequencing and expression, combined with other advanced cellular and anatomical engineering technologies, ophthalmology researchers around the world are able to interpret the pathology of eye diseases and hasten the pace of developing treatments and cures. 

Gene Therapy Enters the Spotlight

In 2009, a seven-year-old boy from New York state named Corey Haas made headlines when he regained a significant percentage of his eyesight after participating in an experimental gene therapy study performed at the Children’s Hospital of Philadelphia. The procedure was performed on a small number of patients with Leber congenital amaurosis (LCA), a group of inherited degenerative conditions that result in damaged retinal cells, leading to progressive and total vision loss. The research team, headed by Dr. Jean Bennett, used a genetically engineered adeno-associated virus (AAV), to carry a normal copy of the RPE65 gene to replace the defective copies in this particular form of LCA. Researchers injected the virus into the eye, which entered the damaged light-sensing cells and, as these viruses do, inserted their own DNA into the cellular DNA, including the crucial normal copy of the RPE65 gene. Vision improvements occurred within weeks. Yannick Duwe, a 15-year old patient in the same study, appeared on a panel during the keynote address at this year’s Association for Research in Vision and Ophthalmology to talk about his experience and how the experimental therapy changed his life. Dr. Bennett and others described a complicated 15-year course spent moving LCA gene therapy from genetic experiments to animal studies to human phase III clinical trials. Much of the research was financed from the Foundation Fighting Blindness, which over the last four decades, has raised more than $550 million US dollars for research on curing blindness.

Building on the proof of principle of AAV-mediated gene transfer, research is now focused on other retinal degenerative diseases where this procedure may be used to restore or slow vision decline. Another breakthrough was reported this year on a condition called choroideremia, an X-linked recessive retinal degenerative disease caused by a defect in the CHM gene that expresses the Rab escort protein-1 (REP1). Early phase I trials of AAV-mediated gene therapy to replace CHM shows promise. But tens of millions more – people with diseases like retinitis pigmentosa, Stargardt disease, Usher syndrome and age-related macular degeneration – are also seeking treatments. Several recent updates on gene therapy clinical trials for these conditions are encouraging, and other novel treatment modalities involving stem cells or bionic implants are also being developed. As it has for 43 years, the Foundation Fighting Blindness will continue to be there every step of the way, raising money to fund the research, and prevention awareness and treatment of retinal degenerative diseases.

A very special thank you to the Dining in the Dark attendees and to everyone at Foundation Fighting Blindness for hosting this unique event on May 28, 2014. For more information on FFB and treatments for retinal degenerative diseases please visit these sites:

www.blindness.org

http://charlierose.com/watch/60378567

Post updated to correct the CHM gene expressing REP1.

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