The orphan designation was the result of the Orphan Drug Act of 1983, which facilitates the development of treatments for diseases affecting fewer than 200,000 people in the United States. Congress passed the act because markets are small for rare conditions, and companies are often not motivated to develop therapies for them.

Orphan status is granted by the U.S. Food and Drug Administration. The European Medicines Agency provides similar benefits for rare-disease therapies being developed in Europe.

Most emerging therapies in clinical trials for inherited retinal diseases have received orphan status, including Oxford BioMedica’s gene therapies for Stargardt disease and Usher syndrome type 1B and Advanced Cell Technology’s stem cell treatment for Stargardt disease.

I am always quick to point out the irony that rare diseases aren’t all that rare. As I mentioned in a blog post on Rare Disease Day — February 29, 2102 — there are more than 7,000 rare diseases, and one in 10 Americans is affected by one. Chances are that you or someone you know is affected by a rare disease, and will someday benefit from orphan-designated therapies.

But for a moment, as we put the wraps on 2012, it is very inspiring to look back on the past year and reflect on the many exciting advancements that have been made in our quest for treatments and cures.

Thanks to the scientific community and everyone else working to bring an end to retinal diseases, our strides have been incredible. Thanks to our success, we have more momentum than ever before as we move into 2013.

Here is my alphabetical list of the Top 12 Retinal Research Advances for 2012:

1.  Argus II “Bionic Retina” Receives Recommendation for FDA Approval 
2. Choroideremia, RP Gene Therapies Perform Well in Early Clinical Trials 
3. Foundation Commits $2 Million to Develop MitoChem’s Cross-Cutting Drug 
4. Gene Therapies for Stargardt Disease and Wet AMD Safe Thus Far in Clinical Trials 
5. Omega-3 Rich Diet Combined with Vitamin A Slows Visual Acuity Decline in RP 
6. Patients’ Skin Cells Help Researchers Move Closer to Treatments for Best Disease 
7. Positive Results for Second Eyes Treatment in LCA Gene Therapy Clinical Trial 
8. ProgStar: Natural History Study for Stargardt Disease to Help Prepare for Clinical Trials 
9. QLT’s Drug for RP and LCA Performs Well in Clinical Trials 
10. StemCells, Inc. Launches Clinical Trial for Dry AMD 
11. Two Participants in ACT’s Stem Cell Clinical Trial Show Improved Vision 
12. Usher Syndrome Gene Therapy Clinical Trial Begins, Safe Thus Far in Three Patients

I would be remiss if I didn’t mention that these amazing advancements were made possible by donations from charitable individuals and organizations focused on finding treatments and cures for blinding diseases. In the spirit of the holidays, and as part of our end-of-year “Light the Way to a Cure” campaign, an FFB benefactor is matching every dollar donated to the Foundation during the month of December. Your support — this month in particular — will help to ensure that we have a similar list of accomplishments to report this time next year. I wish you a safe and joyful holiday season, and I look forward to working with everyone associated with the Foundation to make 2013 an even brighter year in our drive for sight-saving treatments and cures.

Well, we can transplant corneas, the eye’s outer, protective covering. And we can replace lenses clouded by cataracts. (Remarkably, there are about 40,000 corneal transplants and 3 million cataract surgeries in the U.S. every year.)

Thanks to recent advances in stem cell research, we are also getting closer to replacing cells in the retina lost to diseases such as retinitis pigmentosa and age-related macular degeneration. And companies such as Second Sight and Retina Implant AG are having impressive success in the development of “bionic” retinas.

But complete eye replacement is not possible today because of the complexity of the optic nerve, the cable that connects the eye to the brain. The optic nerve is only about 3 millimeters in diameter, yet it contains more than 1 million neurons (connections), making it dauntingly challenging to reconnect to a new eye.

While it is still highly experimental, a few research teams are exploring the possibility of bypassing the optic nerve altogether and using an implant to directly stimulate the visual cortex, the part of the brain that processes visual information. The Monash Vision Group in Australia is developing such a system. It consists of a video camera mounted on a pair of sunglasses which routes visual information through a processor to an implant that stimulates the visual cortex to simulate vision.

The group hopes to test the system in humans in 2014, with a goal similar to that of the bionic retina companies. First, it will provide some basic vision capabilities — for example, enable people to recognize shapes and movement. Then, it will enhance the system to provide more refined vision in the future.

This video I’ve included above does a nice job describing how the visual cortex technology works.

Although this research is exciting, directly connecting a device to the brain brings up a whole new set of challenges and risks. And while you may have tackled the formidable challenge of connecting a wireless router or DVR, I don’t suggest you try this installation at home.

Video courtesy of Monash Vision Group.

Richard – who has retinitis pigmentosa (RP) and is the Foundation’s Director of Development, West Region – is among a growing legion of visually impaired people turning to the iPhone for assistive technology. To better understand what sets the device apart from others, I spoke with Richard and two other FFB associates affected by retinal diseases to get the skinny on the iPhone, both pros and cons.

John Corneille, affected with RP, Director of Gift Planning: I really like some apps I found on a website someone recommended. One’s called “money reader.” You point the phone at the currency, and it reads it quickly and accurately. There’s also a GPS system that helps me find places. When I’m riding in a car, it tells me the speed and how much farther we have to go. This helps pass the time if you’re not able to see what’s going on.

With the touch screen, I was used to a tactile keyboard before, so I wasn’t sure about navigation. But it’s really not a problem because VoiceOver [the audible navigation system; see video below] announces where you put your finger and won’t open anything until you double-tap. There is a learning curve; you have to figure out where to tap, slide, that kind of thing. But the more you do it, the better you get.

Richard: It did take me a while to get used to it, but once you learn, it’s pretty easy. And I use the iPhone for lots of things. Aside from email, I use text messages and a calendar feature that sends me invites through email. A double-beep tells me it’s there.

I use reminders a lot. I set the time, and it’ll give me an alert. It has 50 different sounds, to distinguish what’s coming in – crickets for voicemail, a train whistle for text, a tweet for email, my wife’s ring. I like to know who’s calling, what’s happening.

Dean Thompson, affected with Stargardt disease, Managing Partner, Beehive Communications, contractor with FFB: With the iPhone, it’s so much easier to organize email, using the search function I’ve used for a while, only with voice. That includes searching for emails from specific individuals. Once someone sends me something, I can find it easily with audible help, so I move much more quickly.

Siri can be a challenge. If, for instance, I say, “Let me change my phone call from today at 11 to tomorrow at noon,” she might hear it and repeat it back incorrectly – maybe say, “Let me change our phone call heaven.”

But keep in mind, Siri is not voice-activated technology; she’s artificial intelligence. Somewhere along the line, she began to call me by name, literally saying, “Dean, be patient.” She begins to learn you, and you begin to learn her. And since I downloaded iOS6 [the latest version of the Apple operating system], it’s a huge improvement; there are far fewer mistakes. I don’t get better, but she does.

John: I just downloaded iOS6, and I’m hoping that helps with Siri, because it’s been frustrating. Sometimes, she’d act like she was accepting verbal direction, but wouldn’t complete the task. I wasn’t the only one experiencing this. But nothing’s perfect. For me, Siri works 70 percent of the time.

Richard: I laugh sometimes – what Siri says versus what I’ve said. Some words are more difficult for her to understand. But, for me, it’s 85 to 90 percent accurate. The ease of sending a text is what’s great; it’s a matter of talking distinctly, slowly. I’m amazed at how often she gets it right.

The iPhone is revolutionary – having something like this technology. It’s helped me be much more independent and productive. And it wasn’t available even five years ago.

John: For me, it’s a cell phone that provides a lot more features than others. And like any piece of software, it offers stuff I don’t even know about. I need time to figure all of it out. But it is capable of doing just about all I need. It’s like a mini-computer.

Dean: I’ve been able to streamline my business life. But I’m still a lover of the telephone. I’d rather talk. But what blind person wouldn’t?

Photo and video courtesy of Apple, Inc.

I am happy to report that the panel did, in fact, vote to recommend marketing approval, and I think the heartfelt testimonies of those who used the Argus II in clinical trials helped move the panel toward that decision. The panel’s recommendation bodes well for final FDA approval, which will hopefully arrive in the not-too-distant future.

While Dean testified pragmatically — no surprise, he is a lawyer, after all — others who spoke about their experiences with the Argus II were quite emotional. For example, Cathy Blake, also blind from RP, became tearful as she explained how one of the most important benefits of using the Argus II is the ability to see movement.

“What I really love most about the device is I can tell if people walk by me or there are cars moving in the street,” she said. “I was even able to see fireworks — the flashes falling.”

David Brint, a member of the Foundation’s Board of Directors and Science Liaison Committee, spoke compellingly about his son, Alan, a 15-year-old who has very little vision due to Leber congenital amaurosis. David said, “My son can see where there are trees or a sidewalk. He sometimes sees our dogs. But he asked me if he will someday ‘go dark.’ He said he’d be happy if he could just keep what little vision he had. The Argus II might be a way to restore that vision should it be lost later in life.”

Video of the Argus II Retinal Prosthesis, courtesy of Second Sight

Most of the 10-hour hearing focused on safety and efficacy data from the clinical trials. In the morning, both the FDA and Second Sight, developer of the Argus II, presented data. After the patient testimony in the afternoon, the FDA panel had several questions for Second Sight representatives and then deliberated openly among themselves.

FDA approval of the Argus II would be truly historic and groundbreaking. While several clinical trials for potential sight-saving treatments are underway, and Dr. Eliot Berson’s vitamin A regimen for slowing RP is available, there are currently no FDA-approved therapies for rare inherited retinal degenerations.

FDA approval of the device would also be a big boost for Second Sight, which has received marketing approval for the device in Europe and has plans to enhance the Argus II to provide even better vision than it does today.

Right now, the future is looking bright for the Argus II, and I’ll be the first to let you know about the latest developments in the quest to bring it to market.