Whole Genome Approaches to Complex Kidney Disease
February 11-12, 2012 Conference Videos

Robert Star, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Jeffrey Kopp, NIDDK

Video Transcript

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JEFFREY KOPP: Thank you all for coming to the first of the two NIDDK winter conferences. We planned for snow and there

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are a few snowflakes out there but hopefully not too much that anybody had trouble. We have a wonderful meeting. We have some outstanding

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speakers. We had a very high registration demand. I still see some open chairs but I suspect they may get filled as the morning goes on. Am I

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getting feedback? I think I am. I’ll just step back. Only good feedback. OK. So, first of all I’d like to acknowledge the Co-Chairs of this

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meeting. Andrey Shaw, who is somewhere, and Sara Hull, I see here, who helped me a lot; even through yesterday we were coordinating things.

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Committee members from Extramural: Barry Freedman, Linda Kao, Matthias Kretzler, Martin Pollak, and John Sedor; and Intramural—people

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who’ve had a lot of experience running these kinds of conferences, this is all new to me: Michael Flessner, Paul Kimmel,

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Rebekah Rasooly, and Cheri Winkler, and particularly, I need to acknowledge The Scientific Consulting Group, John Hare,

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again, led me through this process of how you set up a meeting like this. Also thanks to our speakers and breakout session Chairs. We

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have three breakouts currently scheduled and you’ll hear in the course of the day, we have a room that I’ve just learned we do

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have available if we decide we want a fourth breakout session devoted to more discussion of data analysis, and thank you to the

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participants. So, I will be very brief because Rob Star is going to give some substantive comments. Just to remind you, there is a reading list of about

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40 or 50 papers at the website, and in fact, a few were just added in the last 24 hours from one of our speakers, Dr. Lin, who provided 3

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more. All of those, except the most recent ones, are on the CD that I hope is in your packet. This conference is being video recorded, so I’ll ask

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that speakers and people with questions use the microphones at the side of the room, please state your name and city, that’s helpful. This is not

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being videocast live, but will be archived indefinitely if you have colleagues who want to participate. And although I’m not a good example

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of it, please do stay on time so we have enough time for the discussion in particular. And with that I’ll introduce Rob Star of NIDDK.

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ROBERT STAR: So, welcome everyone. I’d like to welcome you, also, to Bethesda to a really quite spectacular meeting. I want to welcome you on

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behalf of the institute and behalf of Dr. Griff Rodgers, the institute’s Director. We are pleased, with Jeffrey, to help post this important two-day

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complex…I’m sorry…conference on complex genetics and complex diseases. It is, as Jeffrey pointed out, a very nice model of collaboration

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between the intramural scientists in NIDDK and NIH, as well as the extramural staff in NIDDK. Now, for those of you that don’t know, NIDDK is

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the institute of common, chronic, consequential, and costly internal medicine diseases below the diaphragm with the inclusion of the esophagus,

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and chronic kidney diseases, as well as their rare forms of FSGS, are very important to the institute and the American public. All of you start

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your grant application with “there are more than 20 million Americans who have chronic kidney disease.” Something like 90% don’t even know it.

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The latest estimates from USRDS show that there are now 605,000 Americans who have progressed to end-stage kidney disease or

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transplant and dialysis and need this just to stay alive. There are about 30,000 new patients a year—a quarter—who cross this threshold. So,

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the question is: why are we here and how does genetics fit into what we’re doing? What we’re trying to do in the institute is to come up with

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better ways to treat, to prevent progression, even repair and cause regression of chronic kidney disease and glomerular disease, and to be

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fair, we struggled quite a bit coming up with new therapies, new preventative strategies. For those of you who are aware, we have aSYNR but

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finding that next step has been quite difficult, and one hope is that genetics will somehow provide the answer by helping us target pathways that

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we had no expectation that they would be important in this area. So, progress in this area has been quite difficult in genetics, especially in

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diabetic kidney disease. NIDDK has spent about $6 million dollars beyond that spent in defined consortium for sequencing studies. Of course,

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there are a few spectacular hits, including APOL1, IH9, 10+4 protein, and a host of rare family mutations that we’ll hear about today. But

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this begs a couple of important questions. Where is the dark matter? What is the dark matter and what are we going to do with all the data that

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we’re going to be getting? We’re going to be drowning in data, if not already. How do we turn this onslaught of data into information that can

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help our patients? So, the purpose of this conference is to discuss new approaches, including study designs, analytic designs, filtering

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approaches, as well as the important ethical, legal, and social issues and the more research ones including data sharing communications back

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to the subjects. So, the breakout groups are organized around what collections are needed to move forward—the ELSI issues—and importantly,

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how to incorporate this important information into our daily practice when we see patients. So, this two-day conference is constructed to address

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each of these topics and we really hope for a lot of very good conversation both in the room and, as I think we’ve discovered over the years, many

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of the really critical discussions will be taking place in the hallway as you have the break food

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that we’re able to provide. This is probably the last meeting—well, almost the last meeting—we’ll be able to provide food in the hallway, so please

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enjoy. Take some home, thank you. So in closing, I’d like to thank my colleague and friend, Jeffrey Kopp, as well as the rest of the organizing

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committee, speakers, and all of you for coming to help us with your thoughtful contributions to address this really critical area in nephrology

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research. The ultimate success of this will depend on your conversations both in this room and outside, and we hope that some new

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insights will help us move the field forward; that’s certainly why we’re here. So, thank you very much. I think I stayed on time.

Date Last Updated: 9/18/2012

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