“When the chip was turned on, at the very first second, I was able to see something in front of me,” the 47-year-old recalled recently. “But of course it was not clear yet. I only saw flashes.”

A few days passed, and Miikka (pronounced MEE-kah) was able to identify horizontal, vertical and slanted lines on a computer screen. Soon, he was seeing the outlines of geometric shapes, then of real objects – knives, forks and plates on a table, for example.

“Something was there, where I was looking,” he says. “I had not had that kind of feeling for years – that I’m turning my eye on something, and there’s something right there. That was a good moment.”

It’s a moment, in fact, captured on a BBC video included in a post written by our chief research officer, Dr. Steve Rose, back in April. But the moment didn’t last. In 2008, for just three months, Miikka, who has retinitis pigmentosa, or RP, was among the first participants in a clinical trial for a device developed by the German company Retina Implant AG.

“It’s a sub-retinal chip, placed below the retina,” Reinhard Rubow, one of the company’s co-founders explained to me. “The light coming into the lens of the eye is collected in that chip, then converted into electrical impulses,” which travel to the brain via the optical nerve.

The chip, in other words, replaces the eye’s photoreceptors, which are damaged, often severely, by retinal disease.

But the company’s device – the latest generation of which is now in clinical trials – is still a work-in-progress. Miikka knew, going in, that the device wouldn’t be implanted permanently, so that, even if it did work, he’d be back to using a cane eventually.

“To be honest, I don’t really care if I will see anymore,” he told me during VISIONS 2012, FFB’s annual conference, in Minneapolis. He was there, with Reinhard, to take part in a panel discussion on clinical-trial participation. “But this chip,” he added, “it’s just interesting stuff. I just want to play my small part in the research.”

This may be a concept difficult to grasp. But it makes sense to many, like Miikka, who’ve learned to live, even thrive, with vision loss, while wanting to help future generations avoid similar tribulations.

A resident of southern Finland, he was 16 when his RP was diagnosed, after he’d complained of night vision problems. Roughly 10 years later, he’d almost completely lost sight in his left eye and had to stop driving. By the year 2000, his right eye had failed him.

In the meantime, Miikka founded and ran a sports-management company, which he sold just last year, after he’d helped 1,000 European kids get athletic scholarships to American colleges. Still a member of the company’s board, he adheres to a strict workout regimen, which includes riding a tandem bicycle.

He’s a few inches under six feet, while Reinhard is well over that mark, which made for something of an odd couple as they navigated VISIONS 2012. Although he couldn’t see me during our interview between sessions, Miikka said that, if the implant were still in, I’d be something of a “shimmery, kind of a ghost-looking, shape. But I would not have been able to identify if you were a man or woman, necessarily, and not your face. But if you lift your arms, yes, I’d be able to see them right away.”

It was these kinds of descriptions that later had attendees at his session rapt with attention. He also told them that, given the chance, he’d jump at participating in another clinical trial for Retina Implant AG. He did, however, repeat what he’d already told me.

“I became involved because I’m interested in the science,” he said. “If I can get the final chip, no big deal. But if I can be part of its development, that’s everything.”

Pictured above: Reinhard Rubow (left) and Miikka Terho.

Interestingly, I learned from listening to the families that a number of affected children were of Chinese descent and had been adopted as infants. Because these children were profoundly deaf when adopted, and are now losing their vision very quickly, it appears to me that they have Usher syndrome type 1, the most severe form.

I happen to be going to China in August where I’ll meet with retinal specialists, including Dr. Ruifang Sui, of the Beijing Eye Hospital, who is the recipient of an FFB Career Development Award.  I am very interested to learn about the prevalence of Usher syndrome in China, and the other inherited rare retinal degenerative diseases in the Chinese populations.

What we learn, clinically and genetically, about Usher syndrome and other retinal diseases in China may be of great benefit to those affected in the West — and vice versa. The more affected people we can identify and study, the better we can understand the diseases and how to overcome them.

In presenting research updates to attendees of the Usher Family Conference, I was joined by Dr. William Kimberling, of Boys Town in Omaha, Nebraska, and the University of Iowa, and Dr. Margaret Kenna, of Harvard Medical School. Together, we informed the families about advances in understanding the genetics and molecular basis of both the retinal degeneration (Dr. Kimberling) and hearing loss (Dr. Kenna) in Usher syndrome.

I addition, I discussed advances in gene therapy, including the UshStat® gene therapy clinical trial for Usher 1B underway and enrolling patients at Oregon Health & Science University. I also told the group about very promising emerging drugs for Usher 1C — and potentially other forms of Usher syndrome and retinal diseases — which read through genetic mistakes. Researchers are currently using the Usher 1C mouse model to test these potential therapies before they are studied in humans.

My presentation included an overview of an emerging nanoparticle-based gene therapy for Usher syndrome 2A (USH2A). A key advantage of nanoparticles is that they can carry larger genes, like the USH2A gene, which viral-based gene delivery systems can’t deliver.

While adeno-associated viruses (AAVs) and Oxford BioMedica’s lentiviral systems are performing well in clinical trials and labs, they are limited in their delivery capacity. So nanoparticles are an important area of research for the Foundation and our members.

Stay tuned for additional reports from my “European Tour,” which includes stops in Amsterdam, Germany and France. It isn’t exactly a rock-and-roll tour, but if it was, I guess I’d call my band “Genes and Roses.”

Love,
Axl

Pictured above: At the Foundation’s recent VISIONS 2012 conference, a tactile interpreter translates a lecture for a man affected by both vision and hearing loss. 

Compared to the previous one, in use for a couple decades, it’s a bit of a shock, yes – as any change can be. But as explained at the dinner by our chairman and co-founder, Gordon Gund, it’s in line with the Zeitgeist.

Over the last half a decade, retinal disease research has reached historic proportions, with clinical trials for treatments and cures either getting underway or being prepped, with Foundation support, to do so. In fact, we’ve been calling this “the era of clinical trials.”

But, in many ways, it is just the beginning of that era. Hence the new logo.

What you now see on our website and social-media pages is a reflection of where we, FFB and those awaiting treatments and cures, are – without full vision, unable to see every part of every letter in the Foundation’s name. There are, literally and figuratively, spaces that need to be filled in.

Successful clinical trials – those which lead to treatments becoming available in the marketplace – will begin to fill in those spaces:

This imaginative re-branding is the product of Leo Burnett, one of the world’s leading ad agencies, whose chairman and CEO is Tom Bernardin, a longtime supporter and National Trustee of FFB. At the dinner, Tom (pictured above) joined Gordon in unveiling the new logo, and he, as much as anyone else, has an investment in our mission; a nephew and two of his nieces have Stargardt disease.

The equation from here on in is simple. Each clinical trial can cost tens of millions of dollars. If the Foundation can raise the money, the clinical trials go forward and, eventually, treatments become available. In other words, the spaces get filled in.

The new logo says where the Foundation is and where it’s headed.

- Rich Shea

Well, the answer is simple:  When they clean a room, they move all of my “stuff” around. (Do some of you remember the George Carlin routine about all of our “stuff?”)  When I first check into a hotel room, I take time to orient myself with the layout, and then place my clothes, suitcase and toiletries in certain spots.

I come to rely upon those things being in the same place, and when they are not, it creates an unnecessary source of frustration. I also have found that putting the tag on my door helps me know that I have found the right room when I return to it.

Lastly, as great a job as my wife does keeping our home clean, we do NOT sleep on fresh sheets every night. Do you?

Let me mention just a bit about why I am here alone. Those of us who are visually impaired need to be able to do as much as we can on our own, even if that means regularly testing ourselves. I viewed the five-day VISIONS conference as one of those tests. Yes, having my wife here would have been wonderful, as she always enjoyed the VISIONS conferences she attended with me when I was strictly a volunteer.

In November of 2010, however, I became a part-time staff member, which meant that I’d be working at VISIONS. And the reality is, she can’t be with me every trip I take, partly because she works full-time herself.

She and my children always provide me with tremendous help and support, and would have done so at VISIONS 2012, but the need for me to continue to gain confidence travelling on my own could not be ignored. Those who are visually impaired need these challenges from time to time. It not only helps us increase our independence, it also gives our loved ones and caretakers a bit of respite that they so richly deserve.

So, with that in mind, I’ve continually tested myself over the past several days, going to and from my room without assistance the vast majority of the time. Beyond that, however, I have had wonderful help from Foundation staff and many of my friends here at VISIONS.

That said, it hasn’t all been easy. Yesterday ended, for instance, with a dinner during which a number of awards were presented to volunteers, trustees and board members, and I was reminded of how an otherwise wonderful evening can take a turn. This happened when the “formal” part of the evening was finished and the “party” began.

The “party” consisted of the music being turned on, for dancing, and people getting up from their chairs at their tables and moving about the room, chatting and mingling with one another. Not being able to see the faces or lips of the people I am trying to speak with, coupled with the loud music, makes me feel a bit uneasy. I know that at least some of you who have vision loss know what I’m talking about. I tried for while to tough it out, but finally gave in to the reality that I’d have to retire for the night. So I asked someone for assistance to the elevator and headed to my room.

Now, I don’t want to give the wrong impression. There were many visually impaired attendees who not only enjoyed the music, but hit the dance floor for the next couple hours. It’s just that, at this point, I’m not ready to do the same. Plus, I’m no Fred Astaire.

Without hesitation, I can tell you my experience at VISIONS 2012 was extremely rewarding, as I knew it would be. The challenges I had navigating some aspects of it I simply chalk up to another of those many tests we all face on a regular basis.

There are more to come, and I’m thankful  I’m on this journey with FFB.

- John Corneille

The grants review process began last fall when investigators from around the world submitted letters of intent (LOI) summarizing their proposed research. Their projects run the gamut, from gene therapy to stem cells to pharmaceuticals. Some efforts are directed at specific diseases, others are cross-cutting. We asked about one-third of those who submitted LOIs to send a full proposal, and those projects are what we’re reviewing now.

So what makes a good research project? There are a lot of factors, but, most important, it needs to be an effort that is scientifically sound and plays a role in the advancement of treatment and cures. We are willing to take some risks if the returns bring us closer to saving and restoring vision. As an example, back in the mid-1990s, gene therapy was considered risky, but now there are gene therapy clinical trials underway around the world, some of which are restoring vision.

Because there is so much great science available today, we can only fund a fraction of the high quality research efforts proposed to us. And while I can’t tell you exactly what the funding outcomes of the review process will be just yet, I do know that we would need somewhere in the neighborhood of an additional $4 million to fund all the projects we’d like to fund, and that’s just for the first year of these multi-year grants.

Well, I need to get back to doling out bread and water — I really am a nice guy at heart — but I look forward to reporting the results from the review process later this summer.

In the meantime, stay tuned for more science updates from VISIONS.

- Dr. Steve Rose

Pictured above: Dr. Eric Pierce, chairman of the SAB, and Amy Laster, FFB’s grants and awards program manager