Usher syndrome type 1 occurs if any of these proteins are missing or defective. However, normal mice have neither the girdle nor the abundance of Usher 1 proteins in that region of their photoreceptors, making them an inadequate model of human Usher 1 disease.

Traditionally, testing emerging therapies in animal models has been an important first step before evaluating them in humans. As the Usher 1 mouse illustrates, animal models have their limitations.

The answer to this problem, as the French researchers note, may be induced pluripotent stem cells (iPSC). Scientists have found a way to take a small skin or blood sample from a patient, turn back the clock on those sample cells so they become stem cells, and then coax them forward to become photoreceptors, or any other cell type in the body. And voila! — we have a model of human retinal disease that we can study in a dish. We can even use the new cells to test drugs and gene therapies.

Keep in mind that iPSC won’t be a complete replacement for an animal model; we still need a complete biological system for testing safety. But human iPSC greatly improve our ability to understand disease and test potential therapies.

What’s even more exciting is that researchers are using induced pluripotent stem calls to make new photoreceptors and other retinal cells, which can be transplanted back into the patient to replace those cells lost to retinal disease.

The therapeutic potential for iPSC is so big, a Japanese researcher just won a Nobel Prize for discovering them.

Above: detail image of a retina, with photoreceptors in green.

But I wanted to highlight a particular effort that addresses an important need in gene therapy for retinal degenerations: Delivering large corrective genes to cells in the retina.

For those of you who’ve seen the original “Jaws,” the summer blockbuster movie of 1975 about a killer shark terrorizing beachgoers, you may remember one dramatic scene. After he sees the enormous shark up close for the first time, Police Chief Brody, played by Roy Scheider, declares, “We’re gonna need a bigger boat.”

That’s the kind of situation we find ourselves in with diseases like Usher syndrome 2A (USH2A), LCA caused by defects in the CEP290 gene and RP caused by defects in EYS. We need a “bigger boat” to deliver healthy versions of these and other large genes to the retina. While current viral gene delivery systems, such as adeno-associated viruses and lentiviruses, are working well in clinical trials for retinal disease, they aren’t able to carry very large genes.

That’s where the nanoparticle-based gene therapy research being conducted by Dr. Muna Naash at Oklahoma University Health Sciences Center comes in. Nanoparticles are like tiny manmade rocks that are 1/12,000th the diameter of a human hair. Scientists can wrap just about any sized gene in them. Dr. Naash has shown that nanoparticles, with their therapeutic genetic cargo, are readily absorbed by retinal cells after being injected into the eye.

As part of this latest round of funding, we are supporting her development of a treatment for USH2A, but Dr. Nash’s emerging technology could be used to deliver large corrective genes for a variety of retinal diseases. So, we are excited about the potential for her treatment to help a lot of people.

Now, if you happen to be going to the beach soon, remember to wear sunglasses, sunscreen and a wide-brimmed hat – to protect your skin and your eyes. While they make for fun cinema, shark attacks are the least of your beachgoing worries, especially if “swimming” means you only go up to your ankles, like me.

Illustrated above: nanoparticles (courtesy of the National Institutes of Health)

I was heartened to just learn that researchers from the Hadassah-Hebrew Medical Center in Jerusalem are receiving a $1.33 million grant from the Israeli government to advance their development of a stem cell treatment for people with dry age-related macular degeneration (AMD Hadassah is also funded by the Foundation Fighting Blindness. We are providing the group with a three-year, $300,000 grant for development of stem cell therapies.

Helping our researchers attract additional outside funding — whether from government entities or biopharmaceutical companies — is critical to the advancement of potential treatments and cures. In fact, I estimate that for every dollar we’ve invested in lab research, we’ve attracted seven dollars from the National Eye Institute. And in recent years, gene therapy development companies such as Oxford BioMedica and Applied Genetic Technologies Corporation are investing several millions in clinically focused research that was made possible by the Foundation’s funding of earlier lab studies.

Led by Dr. Benny Reubinoff, the Hadassah group is outstanding. I met with them earlier this year during my trip to Israel, and I was particularly impressed with their expertise in moving their research into human studies. They understand the regulatory challenges and technical rigors in advancing a potential therapy out of the lab and into the clinic. I am also impressed with Hadassah’s ambition; they are affiliated with companies that are targeting conditions like Parkinson’s disease and multiple sclerosis in addition to dry AMD.

I look forward to providing future updates on Hadassah’s progress toward a clinical trial of stem cells for dry AMD. So, stay tuned.

Pictured Above:  Dr. Benny Reubinoff.

Well, yet another such miracle cure has come to my attention over the past few days. I have been receiving inquiries about an alleged stem cell “treatment” from a “consultancy group,” MD Stem Cells, which claims to provide access to a stem cell therapy that works for a range of retinal diseases. It also claims that seven people have been successfully treated.

So what is wrong with this picture? Where do I begin? After an exhaustive search, we have been unable to find any published data on clinical research for the treatment offered by MD Stem Cells. Likewise, we have found no description in the scientific literature of how the treatment offered by MD Stem Cells could work or any evidence of its resulting in a positive effect, save for the personal testimony of the seven people who say they have seen success with the treatment (whatever that means).

Perhaps most important, there doesn’t appear to be regulatory oversight for the therapy that we can find anywhere; there’s no FDA authorization for a clinical trial, and there’s no FDA approval making it available to the public. The so-called treatment is being delivered in Europe, and we do not know if any European regulatory agency has seen this protocol.

In other words, the treatment offered by MD Stem Cells is not based on any science or clinical experience we can find published anywhere and, as such, should be avoided.

So how do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment. The company offering a treatment should have references to those publications on its website or mention it in its news release. And, most important, it should have documented FDA or equivalent regulatory agency oversight of its research and treatment.

Also, keep this in mind: The world of retinal degeneration research is finite. The Foundation funds many of the world’s top retinal doctors and researchers, and we have relationships with most of the companies involved in this arena. In other words, we have a broad and deep knowledge of what is happening in the world of research for retinal degenerations.  So, if you have a question about something you’ve heard about an alleged treatment, send it to info@FightBlindness.org, and we’ll get back to you with our thoughts on it.

For the record, there are only two FDA-authorized clinical studies underway of a stem cell treatment for retinal degenerative diseases. Both – one for Stargardt disease, the other for dry age-related macular degeneration – are being conducted by the company Advanced Cell Technology.

One of the key benefits of iPSC is that, like embryonic stem cells, they can become any type of cell in the body, and be easily replicated to make large quantities of cells for therapeutic purposes. However, because the donor is the source of the transplanted cells, there is less chance of rejection.

Though I don’t know all the details of the study, the RIKEN treatment sounds similar, in some respects, to the treatment developed by Advanced Cell Technology (ACT) now in clinical studies for dry AMD and Stargardt disease. While each group’s approach involves transplanting retinal pigment epithelial (RPE) cells into patients’ retinas, RIKEN will derive its treatment from iPSC. ACT, on the other hand, develops RPE cells from embryonic stem cells.

Though we currently have more research experience with embryonic stem cells, iPSC offers the important advantages I just mentioned. And there’s nothing like a clinical trial to see how well they might really work.

The Foundation funds both iPSC and embryonic stem cell research because we don’t know which option will be best. It may be the case that both alternatives will have their own unique advantages in different diseases or stages of degeneration.

Pictured above: Rod cells derived from iPSC at the RIKEN labs.