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NEI Director Dr. Paul Sieving Educates Capitol Hill about Rare Eye Diseases at an FFB/AEVR Congressional Briefing

At an October 31 briefing sponsored by Foundation Fighting Blindness (FFB) and the Alliance for Eye and Vision Research (AEVR), top leaders from the vision research community spoke to a standing room-only audience about the critical need for research funding to eradicate vision-robbing retinal diseases that affect more than nine million Americans.

Cong. Pete Sessions offers a welcome to the 70-plus attendees
Cong. Pete Sessions offers a welcome to the 70-plus attendees
In his welcome to attendees, Cong. Pete Sessions (R-TX) stated that, "Today the message is very clear: There is much that can and must be done to overcome these blinding conditions. It is our responsibility through good public policy to recognize that we have the ability to find cures for these diseases." Cong. Sessions, who has a teenage son affected by a retinal condition known as retinitis pigmentosa (RP), added, "When you have a 16-year old son who wants to be a physician and has a great life ahead of him, you’re crushed when you learn he is losing his eyesight to RP."

The Congressman noted that it is in the public’s best interest to ensure that the best, most-promising research technologies are investigated and employed. He also emphasized the great potential of stem cell therapies for treating vision loss. "We need to find out what stem cells can do for us in order to make wise public policy," he said. The annual cost of vision loss in America is $68 billion, due to direct costs associated with health care and loss of productivity and societal costs associated with loss of independence and diminished quality of life. Furthermore, conditions such as age-related macular degeneration (AMD)—the leading cause of vision loss— robs individuals of their central vision, leaving them unable to drive, read, or recognize the faces of loved ones.

FFB’s Dr. Stephen Rose details research into rare eye diseases
FFB’s Dr. Stephen Rose details research into rare eye diseases
Stephen Rose, Ph.D., Chief Research Officer for FFB, which is the largest source of non-governmental funding for retinal degenerative research in the world, and Paul Sieving, M.D., Ph.D., Director of the National Eye Institute (NEI) within the National Institutes of Health (NIH), discussed why partnerships between government and the private sector are beneficial to advancing research. For example, both Dr. Rose and Dr. Sieving noted that an FFB-NEI partnership helped to advance a treatment called Encapsulated Cell Technology (ECT), which is now in Phase II/III studies across the country for treatment of a variety of retinal degenerative conditions, including RP, the "dry" form of AMD, and Usher syndrome (combined blindness and deafness). "In an FFB-funded lab study, ECT showed promise for saving vision, so the NEI subsequently conducted Phase I safety studies of it," said Dr. Rose. During the Phase I trial, ECT saved and in some cases restored vision. More than 150 people are now enrolled in the Phase II/III studies, which are funded in part by FFB.

NEI Director Dr. Paul Sieving, FFB CEO Bill Schmidt, and Bobby Hillert from the office of Cong. Sessions
NEI Director Dr. Paul Sieving, FFB CEO Bill Schmidt, and Bobby Hillert from the office of Cong. Sessions
Dr. Sieving, who showed the tiny ECT to attendees, added, "What is learned in treating the eye may translate into benefits for treating other neurodegenerative diseases such as ALS, Parkinson’s disease, and Alzheimer's disease. One of the advantages of working in the eye is that it is easier to get the device into the eye than into the skull." In addressing the genetic basis of eye disease, Dr. Sieving noted that, of the 25,000 genes in the body, about 10 percent or 2,000 of those have been cloned, and about one-quarter of these have been found to cause eye disease.

An FFB-NEI partnership has also been instrumental in advancing gene therapy that may cure an inherited retinal disease called Leber congenital amaurosis (LCA) — a particularly devastating disease that causes children to be born blind or with severe vision loss. Dr. Rose said, "In 1993, an NEI researcher discovered RPE65 — a gene that causes LCA. In 2000, FFB and NEI researchers used gene therapy to give vision to more than 50 dogs born with LCA caused by that gene. Now, three FFB-funded human trials of RPE65 gene therapy for LCA are underway — at Children’s Hospital of Philadelphia, University of Pennsylvania, and Moorfields Eye Hospital in the U.K."

One of the most exciting reports to come out of the briefing was on a "bionic" retina that is currently in Phase II clinical studies across the country. Dr. Rose said that this artificial retina is giving people who were previously blind the ability to see shapes, light, and movement. Using the device, people are now able to navigate without assistance.

Though many retinal diseases are considered to be rare or "orphan" — meaning that they affect less than 200,000 people — research for orphan diseases is a critical public health issue. Collectively, 25 million Americans are affected by some orphan disease. Dr. Sieving said that, over time, many common conditions will be subdivided into smaller, genetically related groups. “Heart disease, diabetes, and cancer are all genetically driven diseases. We are finding that all common diseases in fact splinter into groups of rare genetic diseases, and we are beginning to treat these conditions based on their genetic profile.”

Dr. Rose remarked that it is an extraordinarily promising time in vision research, because of the numerous human studies emerging and underway to save and restore vision. He said, "Ten years ago, a person with a retinal degenerative disease was told: There’s nothing we can do for you, go home and learn Braille, you will go blind. Today, thanks to funding from the NEI and FFB, there are clinical trials underway to eradicate these diseases. There is a lot of hope."