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December 4, 2013

by Jennifer Phillips, Ph.D.

We Usher Coalition Bloggers are a bit of a mixed bag. Adhering to the age-old advice for authors, we all write what we know. Mark and Kate write as people who live with the diagnosis of Usher syndrome and serve as community advocates. What I know is the science of Usher syndrome, and as such, the vast majority of my posts are heavy on facts and light on personal perspectives. The unofficial motto of scientists, after all, is “Don’t take my word for it”.

But in the course of working on those comprehensive and heavily footnoted science posts, along with doing the day-to-day research on the molecular mechanisms of Usher syndrome, I live with Usher a little bit as well. Certainly not in the symptomatic sense—Usher syndrome wasn’t born in me, or to me, as it was for Kate and Mark; rather, I adopted it. I am a step removed from dealing with it on a truly personal level, but through my work I have had the good fortune to meet a number of wonderful people who do. Through the efforts and participation of those of you who live it, I have not only gained insight into the scientific basis of the disease, but I’ve been able to glimpse the personal and social elements of it as well.

As someone who deals with Usher almost exclusively in the professional realm, I don’t feel like a fully vested part of the community, but I do what I can to let the reality of Usher syndrome dwell with me as I work. Most other scientists I communicate with are exclusively interested in the methodology of what I do—what procedure did you use for this? What about this experimental control? Can you please send me some of that reagent? We tend to focus on our immediate interests, especially when time is short. Forget about not seeing the forest for the trees, we tend to talk far more about the particular venation pattern of the leaves on the trees than we do the forest. But I know from more casual conversations with other Usher researchers that a lot of them try to live with Usher syndrome in a personal way, too, largely inspired by interactions they’ve had with Usher patients and their families. We focus on our day-to-day lab experiments, but we know that the ways in which we define success—or, in the popular Millennial parlance, The WIN—are shaped by the community we ultimately serve.

As someone who mentors young scientists, I teach “Usher syndrome” to all students who come through my program. And I mean really teach it—the forest AND the trees. These students come into the lab, thinking they’re going to get to learn how to use some fancy equipment and get some résumé-enhancing experience on their way to Medical School or a PhD program. I give them all that, but along with it I also give them the best education I can provide as to why their research matters to the Usher community. I try to impress upon them that while we might spend most of our days thinking about the biological details of what Usher protein binds to which particular domain or structure, or the most robust statistical method to analyze raw data, the overarching question is “How do defects in certain proteins lead to Usher syndrome?” and the sole reason we ask that question is so that we can use our answers to make a difference in the lives of people with Usher syndrome. While not all of my students get an opportunity to meet or talk with a member of the Usher community, they hear all about the community—the hopes and fears, the frustrations and triumphs. Knowing that their work matters to people outside these university walls makes an impression, and most students are able to connect more significantly to their research just by knowing what’s at stake.

Many of my students over the years have been summer interns. For 10 weeks, they work full time on a nice, discrete research project and then move on, taking with them some new science skills along with the new knowledge that a disease called Usher syndrome exists, and affects many lives around the world. These students often go on to present their research at national meetings, where the message of Usher syndrome—what it is, and why it’s important—is disseminated even further. Organizers of these national meetings bestow awards based on presentation style and content. There are thousands of presentations at each conference, so this is quite competitive. Some of my previous students have won; others haven’t been so lucky.

My wonderful student from this past summer, an energetic and brilliant young woman, recently presented our Usher project at the Annual Biomedical Research Conference for Minority Students in Nashville, TN. Afterward, she wrote me the following (shared with permission):

Hi Jen,

First- I'd like to say a million times THANK YOU for being so willing to look over my presentation for ABRCMS and just for taking me in this summer in general. I hope this came across while I was there but, I sincerely enjoyed working with the whole lab. I am honestly passionate about the work we did- and that you are continuing to do!

On that note, ABRCMS was great! I loved talking about our project, and people had all kinds of great questions. We were very fortunate to have 2 of our [Summer Research Interns] win awards for their poster presentations. I'm so sorry that I'm not able to add my name on that list Jen!! I felt confident about the presentation and it seemed as though the judges I spoke with were very interested in the work. It was a great experience, I just wish I could write back with a WIN for the lab.

 Honestly, this broke my heart a little bit. Here is a researcher at the beginning of her career, who is talented enough that she will likely be able to choose from a number of prestigious postgraduate opportunities, writing to me and apologizing for not winning a presentation award. I responded with the following:

 Listen, you were and are a WIN for the lab, and your work is a WIN for the Usher community. Having you out there doing a wonderful presentation on the great work you did, and having the big meeting experience where you can take ownership of a project and boost the signal is the best possible outcome from my perspective. I think the Summer Research program is awesome, but the awards don't mean a thing to me. Seriously. You and your efforts are everything anyone could ask for in a student scientist, and whatever field you end up in will be very lucky to have you.

 Don't think another minute about the stupid awards. Think about the rush you got when you were talking about research you understood well and how it felt to explain it to all those interested people. Think about how much it means to the Usher community members to know that a bright young researcher like you is out there raising awareness and getting more people to care about Usher syndrome. That's the WIN.

 My research group is on the small side, and there are only about 15 students out there who took their leave of this lab with some knowledge of Usher syndrome that had nothing to do with an experimental result. But considering the potential interactions that those 15 have had on their educational and professional journeys since leaving here, there’s a 15x potential for more people to have heard about Usher syndrome. We researchers aren’t truly on the inside of the Usher community, but by trying to live Usher as much as we can, by talking far and wide about the people who really live it and what we want to do to help them, we might be able to boost the signal in a way that’s meaningful in the long run. 

 We can’t yet declare victory over Usher syndrome, but we can celebrate the advances we’re seeing in our research, and the growth and organization of our community. We can celebrate the fact that the people within the community bring relevance and impact to our scientific endeavors. That’s what you do for us, Usher community: You inspire us in a personal way that cannot be cited or footnoted, but can only be experienced. For now, that’s the WIN. Thank you.

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