 Well, good morning, everyone. I'm Eric Green, Director of the National Human Genome Research Institute, and I'm delighted to welcome all of you to this day-long special symposium entitled Genomics Landscape a Decade After the Human Genome Project. Thank you very much for coming, and I can guarantee you we have a very special event in store for all of you as the day progresses. Let me immediately point out to you that it is DNA day. April 25th, which is DNA day as celebrated every year. Now it's a particularly special DNA day, and of course the origins of DNA day relate to the fact that indeed it's held each year to commemorate this remarkable discovery of Watson and Crick, the double helical structure of DNA and this famous publication in nature. It is worth pointing out that today of all days is the 60th anniversary of this remarkable publication, which is the reason why we chose to have this symposium today as we're having. But in fact, a lot has happened in the past 60 years, and in fact one of the most monumental things that's happened in the last 60 years that particularly relates to this remarkable discovery about DNA was the Human Genome Project, which took place from 1990 to 2003. And the thing we're really celebrating today and commemorating today was the completion of the Human Genome Project. And that completion was announced in this press release, actually it was announced from this podium and associated with this press release precisely 10 years and 11 days ago where the international consortium involved in sequencing the Human Genome and carrying out the goals of the Human Genome Project declared the goals complete and the project is over. So that's really why we are here. We are here today to celebrate, commemorate this remarkable achievement that was wrapped up 10 years ago. And in fact shown here are some banners that especially the NIHers in the audience might have seen on some of the light poles around campus have been up for a couple of months and will remain up for a number of months. So what I thought I would do to open this symposium is really to help reflect back on what all of this really means and to think about how much the world has changed. And describing to you some of this, I really want to frame it around essentially a 23-year interval, if you will, with three major punctuation marks, if you will. Looking back on the year 1990 when we began the Human Genome Project, I can vividly remember it. I was a participant from day one on the front line and it was a remarkable endeavor to be a part of. I can also vividly remember the year 2003 where announced here at this podium the completion of the Human Genome Project and there was great celebration and great fanfare. And when we find ourself now in 2013 celebrating this completion of the first decade having now in hand the sequence of the Human Genome for a full 10 years. Well, these are three time intervals, if you will, to think about and the world really has changed if you think about, you know, we've changed U.S. presidents, we've gone from Bush 1 to Bush 2, and now we have Obama. We've changed the way we listen to music. Back then we tended to listen on cassette tapes, but then by 2003 we were using Discman and we were using CDs. Of course nowadays all of us use MP3 players to listen to music. Our computers seem to have changed quite a bit. Back in 1990 there was the desktop was sort of the main use for all of us, but by 2003 of course we had mostly found the convenience of laptops and nowadays all those things are pretty much done on our smartphones. And even the way we communicate has changed in these 23 years. Back when the Genome Project began the main mode of communication was the facts. I will point out, true story, when the Genome Project began and really for about the first six or 12 months that I was involved in some of the earliest efforts to map and sequence chromosome 7, I had collaborators elsewhere who were sequencing teeny bits of chromosome 7. And the way the sequence information was being conveyed to me so that I could design polymerase chain reaction assays was by facts. The facts with the sequence that I would look up and actually try to figure out exactly how to design oligonucleotide primers. It's astonishing in thinking about it and we quickly figured out more efficient ways of electronically communicating, but that was the means of convenient communication then. Of course by 2003 the world had changed and we were all e-mailing prodigiously, but now we've decided e-mail is too lengthy and so most of people are communicating through tweets. Well that's how we've communicated. What about science? How has science changed over that and how has genomics changed and how has NHGRI changed as the institute I now have the great fortune of leading? And then this is really what becomes now relevant for this symposium. These different eras for genomics and for NHGRI and I can't help but remind everybody that the way the Genome Project was completed was by following a strategic blueprint if you will articulated in several documents including the National Research Council report and also report from the Office of Technology Assessment. And that was the earliest blueprint laying out how to pursue the goals of the Human Genome Project. At the institute level we had leadership of Jim Watson who you'll be seeing more of later in videotape and Elka Jordan shown here was directing our extramural research program and serving as the institute's deputy director. If you fast forward then 13 years to the completion of the Human Genome Project it all happened with great fanfare and great celebration. And I can vividly remember April 14th, 2003 with the completion of the Human Genome Project we distributed to members of the attendees of a symposium held right here in this auditorium this DVD and in that DVD and this is shown the cover is shown the image is shown here and in that DVD included burned onto a disk the complete sequence of the Human Genome as just completed by the Human Genome Project and this became if you will a commemorative piece the Genome Project it was a it was a great stocking stuffer for several Christmases to come and actually was put in multiple is this true story multiple time capsules this was put into to be unearthed at some future date. As I mentioned we had a symposium here as we tend to do and and this was actually a two-day symposium and this is sort of some of the graphical elements from that symposium. Importantly once again we needed a blueprint for moving forward a strategic plan if you will and on the day the Genome Project ended came out this publication in nature from our institute that had wrapped up a strategic planning process and really served as a guiding set of goals and strategic ideas for moving the field of genomics forward. Down here is Francis Collins a little less gray as you'll see later today back then at this podium announcing all these things about I just alluded to and kicking off this symposium and then halfway through the day on April 14th of 2003 came a press conference just on the other side of the lobby out here that formally was announcing the completion of the Human Genome Project you have individuals like Mark Walpart who was soon to no longer be head of the Welcome Trust, Ari Petrino from the Department of Energy, Ilya Serhouni then director of the NIH, there's Jim Watson of course, Francis and Bob Waterston one of the directors of one of the genome centers that had been responsible for sequencing the human genome. And then we find ourselves here now in 2013 once again guided by a strategic plan that we actually published a couple years ago and very much articulates what we are pursuing in genomics some of which you'll be hearing about in talks sprinkled throughout the day and once again finding ourselves at a symposium commemorating celebrating but also looking forward to what the field is going to bring us and that's really why we have all gathered here today. What about the science? How have things changed over these three time intervals? And of course the thing that has driven this more than anything have been technologies for sequencing DNA 1990 when the genome project began some of those early sequences that were generated that were then put on pieces of paper and faxed around such as to me were generated using Sanger sequencing methods and radioactive sequencing and the classic sequencing ladder you'd see on an auto radiogram. Of course shortly thereafter and certainly what was responsible for sequencing the genome as part of the human genome project were more automated methods with imagery such as this reflecting Sanger based sequencing results. But wow as you'll hear about throughout the day I'm sure the world has completely changed with respect to sequencing technologies one of which is sort of shown in an icon form here but multiple different technologies are now available for sequencing DNA. And with that has come remarkable advances with respect to the cost of sequencing and the speed of sequencing. And you can think about it just in terms of sequencing a human genome how much time it would take to sequence a human genome or how much it costs. Well back in 1990 and throughout the human genome project we sequenced that first human genome. It took about six to eight years of active sequencing to generate that sequence and it cost something on the order of a billion dollars. But when the genome project ended had we gone back and immediately sequenced a second human genome our sequencing centered colleagues and researchers investigate sort of went back in the envelope to calculate what that might cost and estimated that if they went immediately to sequence a second human genome it would take probably about three to four months and it would cost much less only ten to fifty million dollars. But of course today today we can sequence a human genome with these next generation sequencing technologies for something like two to three days with promises that probably by the end of the calendar year that'll be down to a day and of course the price is well below ten thousand dollars is more like four or five or six thousand depending on how you calculate it very very much in route to getting to a thousand dollar genome we believe in the next few years. With that of course has come the generation of many human genome sequences 1990 there were none by 2003 you had your first but of course today there's thousands and and the number is growing and will continue to grow at an impressive pace. It's not just about the human genome sequence of course have come opportunities to sequence other genomes other vertebrate genomes back then there were none by 2003 we had several and today there's over a hundred and twelve vertebrate genome sequences available in public databases in terms of non vertebrate eukaryotic genome sequences back then there were none when the genome project began by the end of the genome project there were fourteen and now there's a four hundred fifty five and if you go to smaller genomes such as prokaryotic genomes the numbers are even more impressive from zero to a hundred sixty seven and today eighty seven hundred and I'm sure rapidly growing this is filled the databases of course if you just look in gen bank and you look at the total DNA bases in gen bank once upon a time we only had about forty nine million bases in gen bank by the time the genome project ended it was up to thirty one terabases and today about a hundred and fifty terabases and a lot of that data was generated with whole genome shotgun sequencing that came to the fore throughout the genome project uh... when the genome project began there was no such thing as whole genome shotgun sequence data available by two thousand three there was about nine point six terabases and today closing in on four hundred terabases of whole genome shotgun data available so of course that's a remarkable amount of data both about the human genome sequence and vertebrate sequences and other sequences and total amounts of of sequence data we also turned our attention to understanding how variation exists across the human population in terms of our genome sequences and those numbers have also grown remarkably just in terms of knowledge about single nucleotide polymorphism single base differences in our genome that are publicly available for researchers to use back in nineteen ninety we had a rather unimpressive knowledge of just a little over four thousand such uh... polymorphisms by two thousand three we had several million but of course today through efforts such as snip consortium and and the hat map project and a thousand genomes project that number is well over fifty million unknown human polymorphisms available for study those polymorphisms and other uh... aided by technologies and aided by knowledge of how our genome work has led our abilities to uh... be able to focus our attention to study uh... the genomic basis of disease we've seen remarkable advances both in rare genetic diseases involving single genes and more genetically complex diseases in the case of rare genetic diseases of course you could look at a two ways you could either look at diseases that we now know the molecular basis for or you could look at a gene level how many genes we've implicated in rare diseases and both ways you look at it it's impressive if you look at the number of diseases with known molecular penis type uh... molecular basis known uh... when the genome project began there were only sixty one diseases for which we knew the molecular basis but of course the genome project greatly accelerated that even during the human genome project so by the end that number was up to over twenty two hundred today that number is rapidly approaching five thousand if you look at it from a gene specific basis how many genes have been implicated with rare genetic disease when the genome project began the number was fifty three it had grown considerably uh... by the time the genome project ended to about fourteen hundred and seventy four and now that number is rapidly approaching three thousand in terms of complex genetic diseases uh... there's been similar advances of course this is a far more complicated endeavor to really get at the specific variants that are conferring risk for common genetically complex genetic diseases but what of course has come to be a very valuable strategy or these genome-wide association studies developing statistical associations between specific known variants and the inheritance of risk for getting a particular complex genetic disorder and these GWAS studies uh... where didn't exist back in nineteen ninety and in fact didn't really exist in two thousand and three there were other strategies but they weren't particularly efficient but now fast forward how many publications uh... have uh... been described successful genome-wide association studies over fifteen hundred and while we don't yet know the exact variants conferring risk for these common diseases in all cases or even very many cases we've learned a tremendous amount of where to search now in the genome to try to find which variants are the ones of biological importance and indeed much of this data has allowed us to then do replication studies to actually demonstrate that indeed some of these variants truly are going to be relevant for conferring risk for common diseases once upon a time of course it was zero uh... when the genome project ended there actually a handful of cases they weren't person they weren't found by genome-wide association studies but by other means but but now we have almost three thousand variants that have now been replicated as being disease associated now has that led to changes in the practice of medicine well little bits here and there i think the forward-looking talks you'll hear today will point a picture paint a picture about how things are going to be changing uh... as we think about uh... important ways of applying genomics to improve uh... medical care but there has already been some progress and there's various metrics one could use this is one just in terms of understanding the genomic basis for drug response and recognizing that people respond differently because of different variants uh... and uh... that may be relevant for selecting the proper medication for the individual patient if you just look at drugs for which the fda has now recognized the importance of having pharmacogenomic information on the labels for that drug when the genome project began uh... there were only four such medications the genome project ended that number was almost fifty uh... and now that number is over a hundred with again anticipation of that number growing with time so i hope this is giving you a flavor of these three time points across a twenty three year span from before the genome project uh... and really when the genome project began when it ended and then where we are today and and really what i want to do in really going through those numbers was just to set the stage to start to paint this landscape if you will the changing genomics landscape that really you're going to hear now put into greater detail uh... from the speakers that will follow so that's what i wanted to emphasize but i do want to also say a few additional things uh... starting with uh... huge huge thanks to a number of people who have made today's symposium possible i i really want to uh... give a uh... strong shout out thanks to a group uh... committee if you will of NHGRI staff uh... listed here who have made today possible in particular Rudy Pazzotti and Brad Ozenberger who co-chaired this group uh... and then at Sante who sort of handles all things logistic who's running around out there making sure everything's gonna happen perfectly uh... a lot of the graphics associated uh... that you'll you'll see and have seen in the program and so forth derelizia and then you're going to see uh... several videos uh... sprinkled in three of them uh... throughout the day and uh... Larry Thompson and his team have been responsible for these videos and a big thanks to them uh... for putting this together i think you're going to enjoy them tremendously these other individuals also thank you as well so the other thing i wanted to point out a sort of what the logistics are going to be uh... for today in terms of speaker introductions we knew you wanted to hear from the speakers much more than you want to hear from n h r i staff introducing the speakers and so we deliberately put bios of each of the speakers uh... in the program if you don't have a program please get one and so what we're going to do is not have detailed introductions of each speaker i'm gonna handle the morning session and just introduced the speakers and uh... at the completion of each talk uh... we're gonna if people have questions please go to microphones that are out there uh... in uh... on the uh... each aisle and in part we need to have people of microphones because we're videotaping all of these uh... all the talks and we want to make sure we can capture the questions uh... and then in the afternoon session mark guyer deputy director of the national human genome research institute will be moderating and again we're just going to mostly be introducing speakers and keeping uh... everything moving along and on time so i now have the pleasure though of introducing a special speaker who's the second one uh... and and i want to tell i don't don't take my slides now uh... i have one more slide i want to show and uh... and i want to tell a little story uh... before i turn this over to kirk and the story is really it's a it's a it's a feel-good story i think from the point of view of demonstrating how wonderful collaborations can happen within the government when good ideas are are are pursued uh... when i became director of n h r i three and a half years ago now one of the things i was very interested in was to continue to explore ways that increase uh... genomic knowledge uh... especially to the general public we're thinking about this in many areas but wondering how we could pursue outreach uh... knowing that genomics has become increasingly relevant to people especially as it finds its way into medical care and one of the things i always wondered about and i admit having now been at n i h for eighteen and a half years and raising children in the area was spending lots of time at the smithsonian especially with my kids wondering why was it that the national institutes of health which has so much interesting things going on the biomedical research arena and the smithsonian which is an incredibly impressive institution in its set of museums uh... they're only ten miles apart or so and yet you walk around the smithsonian you rarely see much in the way of information coming out about the n i h or collaborations of exhibitions uh... record that represent partnerships between the smithsonian and uh... and the n i h and so i uh... turned to vance bonham who runs uh... our education program at n h r and i said we should do something about this let's find out if there's something we can do with the smithsonian and we got uh... meeting uh... with uh... the smithsonian secretary secretary cloth uh... and some of his high uh... his senior staff we had a wonderful meeting exploring various ideas of what might be in terms of ways to have our institute in genomics interact with the smithsonian who actually have a lot of interest in genomics and uh... true story this this happened in june of twenty eleven and the secretary turned to me and said is there anything special happening in genomics that we could sort of rally around and do something big and i said funny you should mention that the light bulb went off in my head i had thought of it until that moment i said well there's this thing in april twenty-thirtieth twenty-thirteen will be celebrating the tenth anniversary of completing the human genome project let's do something let's do an exhibition together and boom it happened by a series of of remarkable meetings and developing a collaborations and partnerships and uh... and the rest is history although it's been very fast and furious on a timeline that usually doesn't happen for the development of exhibitions at the smithsonian uh... but uh... it's gonna happen and it's gonna happen very soon and uh... and kirk johnson who is now the new director of the smithsonian's national national museum of natural history uh... was fortunate enough to be able to get here today to briefly introduce you to this and tell you about this and so he's the first speaker and i'm delighted that he was able to come join and really be the first of a series of speakers in today's symposium so kirk