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Cause and Effect

December 10, 2015

by Mark Dunning

The Own the Equinox campaign was a huge success. Not only did we have 80+ teams around the world raising awareness about Usher syndrome, but we were also able to surpass our fundraising goal. In fact, we doubled it. Because of that, we have been able to use that money to hire a Registry Director!

A Registry Director is incredibly important because the International Usher Syndrome Registry is incredibly important. How important? Well, let’s look at some examples and do a little daydreaming to illustrate the impact the registry is having today and some of what we believe it can become when the financial resources become available.

Irritable Bowel Disease (IBD) and Usher Syndrome

Before I write a word on this, I want to be clear. There are NO KNOWN CONNECTIONS between IBD and Usher Syndrome. Got that? Nothing has been proven yet.

My daughter, who has Usher syndrome, was also diagnosed with Crohn’s disease last year. Shortly after she was diagnosed, I wrote a blog post about it. As is often the case, the Usher syndrome community came rushing to support us. I heard from a number of people who also were dealing with Crohn’s or a similar Irritable Bowel Disease. IBD is different from Irritable Bowel Syndrome (IBS) in that IBD is genetic. In fact, there are over 100 genes that have been identified as being associated with IBD.

This led to a conversation with Bella’s gastroenterologist at MGH. I had two questions. 1) Were any Usher genes on that list of 100 genes associated with IBD and 2) What was the incidence rate of IBD? The answers were interesting. None of the 100 genes associated with IBD is an Usher gene. And 7 in 1000 people in the general population have IBD.

That second number piqued my interest. You see, when I posted that blog I was flooded with e-mails from the Usher community. But I am not in regular contact with more than a couple hundred people. And it seemed to me, anecdotally at least, that at least 7 of those people had IBD. So my anecdotal evidence suggested a higher frequency of IBD among people with Usher.

Let me pause again to point out that there is NO KNOWN CONNECTION between IBD and Usher syndrome. However, that anecdotal evidence was intriguing. And it wasn’t just intriguing to me. It also raised the antennae of Bella’s GI doctor.

Here's where the registry comes in. Within a couple of days of our discussion, Bella’s GI doctor had contacted the Usher Syndrome Coalition about investigating whether this anecdotal evidence was actually a real connection. This led to a partnership with MGH to send a survey to people in the International Usher Syndrome Registry asking, in short, had they been diagnosed with IBD. I can’t share the response data, but I can tell you that it is enough information for MGH to confidently determine if this is worth pursuing further or not.

That’s because we got around 200 responses (around 20% of registrants). For a study of any kind, that is a good-sized cohort. Even better, we also got those responses in less than a month. To get that big a response that quickly is nearly unheard of in the research community.

So it is hard to understate the power of the International Usher Syndrome Registry. That ability to quickly determine if a given issue is common within the Usher syndrome community or not gives us incredible insight into what makes Usher syndrome Usher syndrome.

OK, now let’s fantasize a little bit. Again, to be clear, there is no known connection between IBD and Usher syndrome. But if there was, two very exciting things might happen.

Modifier Genes?

We know that two people with the same genetic cause of Usher syndrome can have different rates of disease progression. One of the suspected reasons is the possible existence of modifier genes. These are mutations in genes other than the Usher genes that might impact the progression of the disease. Well, there are more than a 100 genes associated with IBD. If people with Usher syndrome had a higher incidence of IBD than the general population, it would give us 100 genes to investigate as possible modifier genes.

Off-label Drug Therapies?

There has been lots of investment in IBD research resulting in a number of drug therapies that have helped improve the lives of people IBD tremendously. For instance, Bella just had her first IV treatment for her Crohn's. Well, if there is a connection between IBD and Usher syndrome and these drugs help with IBD, could they also have a positive impact on people with Usher syndrome? In other words, could a drug developed for IBD be used to slow the progression of Usher syndrome?


Again, to be clear, those last two paragraphs are fantasies. There is no proven connection between IBD and Usher syndrome. But we have begun a preliminary investigation simply because the International Usher Syndrome Registry exists and the registrants quickly respond when surveyed. That is a remarkably powerful tool.


A recent paper about PEX6 again got me excited about the power of the registry. The paper found that a family with severe enamel dysplasia that was initially diagnosed with Usher syndrome actually didn’t have Usher syndrome but actually had mutations in the PEX6 gene. Well, like IBD, I have heard a lot of anecdotal evidence of enamel problems within the Usher community. Again, I don’t know if there is a connection or not. But with the registry, we have the tool to spur an investigation in that question. We could survey registrants and ask them if they have enamel problems. If the rate is higher than the general population, it’s worth investigating further. And an investigation might reveal a connection between enamel problems and Usher syndrome. Or it might reveal people who have been misdiagnosed as having Usher syndrome but who actually have this PEX6 mutation.

Psycho-social possibilities

The registry could help us answer, real-time, some significant psycho-social questions as well. For instance, what is the real unemployment rate among adults with Usher syndrome? Simply asking for an employment status of everyone in the registry would give us a good idea. And that is incredibly powerful information when we are advocating for governmental research dollars because unemployed people cost the government money. If that cost could go away by investing in research, it’s worth the trade for governments.

And, best of all, we could finally answer the much debated question of how many people in the world actually have Usher syndrome. But we can only answer that last question by getting everyone in the world with Usher syndrome, regardless of age or disease state, to join the registry.

Cause and Effect

Your participation is vital to all of this. Go back to that first paragraph. This community raised the money that allowed us to hire a Registry Director. That Registry Director is going to help us reach more people with Usher syndrome and get them in the registry. That registry is a powerful tool for learning about Usher syndrome and could possibly be the first step to finding new treatments. All of that starts with you.

2016 by 2016

Now that we have a Registry Director, we also have a new goal. Right now we have just about 1,000 people in the International Usher Syndrome Registry. Our goal is to double that by having 2016 people (at least) in the registry by the end of next year. Doing that, as always, requires you. And as demonstrated by the IBD survey, we need everyone, regardless of age or disease state. You hold the information about how the disease works and that information is necessary for finding treatments. So join the registry today and help support the Usher Syndrome Coalition’s efforts to expand the registry.

In our next post, our new Registry Director, Nancy O’Donnell, will introduce herself and her exciting goals. Thanks again for making her hiring possible.

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