 So first thing is I want to thank all of you for coming. I also want to thank Mark Williams and Terry for organizing this, co-chairing this. I want to thank Geisinger for handling a lot of the logistical assets and really hosting this in many ways. I would also point out that it's a good thing we decided to start this when we did. Originally we were gonna start this a little later to allow some of us from Washington to fly in this morning. The federal government's officially closed in case you didn't know this right now not because of the fiscal cliff, because of a little teeny bit of ice in the Washington, D.C. area. So we're actually closed in the D.C. area to noon, but fortunately all of us decided to come in last night so we're here and we can get going. It is interesting to look out at this group and see how it has grown. I think the origins of this meeting, this gathering was Jeff Ginsburg telling us once that an advisory meeting wouldn't it be great if we started getting together? And then we had Genomic Medicine 1 and it was a reasonably modest sized group and it's grown two, three, four, and so forth. I'm projecting by the way the field is going and the way this group seems to be expansive in its thinking, which I love. I'm pretty sure by Genomic Medicine 10 we're gonna have it in Madison Square Gardens or somewhere that'll be a massive venue. It's amazing to see the depth and breadth of people interested in this and I think you can see from the agenda. We won't disappoint. The other thing I wanted to point out from the point of view of the National Human Genome Research Institute is the subtlety but I think it's relevant and you're gonna see it play out a little bit during this meeting, some of the people you interact with. The origins of this were very much around Genomic Medicine narrowly defined coming out of things we were talking about programmatically we were gonna be doing especially under Terry Minolio's leadership. I'm not gonna give you many of the details but in this previous October one the Institute went through a fairly substantial reorganization, the first one in a very long time and we created a whole new divisional structure that really I think better defined what we're doing very broadly in genomics. And the reason I raise that as Terry is the director of one of our divisions, the division of Genomic Medicine but the issues and topics and things being discussed at this meeting really are not solely in her division. In fact many of the things we're gonna be talking about here are very relevant to some of the other divisions. Laura Rodriguez is right here who's our director of our division of policy communication education and several of her members of her division are here and you're gonna be hearing from some of them. And then meanwhile I'm gonna even have a few remarks to say about some of the things going on in our intramural division that I think are relevant and I think some of the other divisions they're gonna, so I just wanna make that point because our view is expansive and I think our structure very much reflects that and with time on some of these topics you're gonna hear about an update from another meeting that somebody that Derek Scholes will be talking about later. You will see how different parts of the Institute might be adopting and running with issues and topics that get raised at venues like this. So if for my talk what I want to do was to just fill in the gaps in any way. I know what some of the other members of the Institute talk about throughout the next two days. I was sort of given table scraps if people thought they're good table scraps. There are a lot of eclectic topics are not being covered by others but people told me oh you really should make sure to say a few words about the other because we're not covering it. So these are the four things that I wanna just give you some brief updates about to set the context. They are a little bit all over the place. The last one in particular is fun because I thought it'd be good to have a fun topic at the very beginning to get everybody all energized although the other stuff's pretty exciting too. Let me just remind you when I wanna start with our education efforts and needless to say this is something that's been relevant to the Institute for a long time. Many of you might have seen this recent cover and story in genome technology that focused on education as it relates to physicians. The fact of the matter is NHGRI has been interested in genomics education more broadly defined than just physicians and even within the healthcare setting more broadly defined than just physicians. I would actually tell you that it's an important component of our overall mission and as very much in line with telling you about our reorganization there are elements of educational programs that are found in different components, different divisions, different sub parts of our divisions and so forth. We really regarded as a long-term goal to advance the understanding of healthcare providers broadly defined about advances in science and technology and evidence development and this very much will be relevant to some of the things we'll be talking about throughout this meeting and clearly we recognize that these educational efforts whoever carries them out and we probably will only carry out a small fraction of what's gonna be required. It's gonna be critically important to assure productive utility of genomic information for clinical care because of all the complexities of genomics and all the different ways that it touches. When you read our strategic plans either in 2003 or more recently in 2011 our most recent strategic plan we talk about some of these ideas obviously in very simple terms recognizing that there's a lot of complexities that need to be worked through at venues such as this. Our efforts and the resources that we've created have been several and just a subset of which but at least the major ones are shown here. Some of you might be familiar with the G2C2 resource repository that's had curriculum and other resource materials for genomic counseling education, nursing, physicians assistant coming soon will be for pharmacists and that has served as a venue that has been useful for individuals in the community. Our talking glossary has received quite a bit of utility around the world as a product of our education branch within one of our divisions. The case scenarios being created within this new G3C resource which will be in transdisciplinary in nature and we'll find usage of value to many individuals. And then most recently we have an ongoing series again from within one of our divisions sponsoring and actually involving many people across the institute in partnership with Suburban Hospital and Johns Hopkins University. We have a series of genomics and medicine lecture series held in a small auditorium in Suburban Hospital but videotaped every single week that it's held and posted on our genome.gov and also our genome TV channel of YouTube and getting extensive amounts of usage. So again, we look for opportunities for these sorts of outreach and education efforts. And so these are the kind, and then meanwhile in terms of the literature we've had various involvement over the years in terms of getting information about genomics and genomics education and genomic medicine out on the clinical journals. Greg Firo and I wrote an article a couple of years ago for an education issue of JAMA. Some of you might be familiar with our New England Journal of Medicine series that members of the institute co-edited for a number of years. And then a special issue that's pending a genomics issue in Journal of Nursing scholarship Jean Jenkins has been heavily involved in that'll be coming out quite soon. So those have been just sort of a flavor of our education efforts but we look for audiences like this to tell us what are the other priorities we might be interested in supporting or looking into in the future. Moving on then again to complete change of topic I wanted to I was asked to say a few words about the undiagnosed diseases program which originally grew up exclusively in the intramural program of NIH and we hosted it within NHGRI. For those of you who are not familiar with this program it is a program that aims to assist patients with unknown disorders reach an accurate diagnosis. These are these tragic cases where have gone from hospital system to hospital system unable to come up with a diagnosis and they come to NIH in this case so far to the intramural program rigorous workup often extensive genomic characterization and attempt to identify the disorder affecting that individual. And the goal also includes discovering new diseases that human physiology and genetics. To date over 500 patients these numbers are actually old over 500 patients have been evaluated at the NIH clinical center definitive agnosis over 39 at this point and at least 16 new human genetic disorders have been identified. The undiagnosed diseases program was a pilot project that was viewed as a experimental to see what it was like and I think it was widely regarded as being extremely successful and so successful that when it came time to evaluating it's it was important to expand this put it on longer term financial footing. The decision was made by the NIH leadership to move it out of what was basically a temporary budgetary circumstance over a pilot phase and to make it a common fund project part of the NIH common fund and that indeed is exactly what's happening and we're right in that transition a commitment over $145 million over a seven-year period initially for common funds support involved not only continuing to support the intramural UDP program but expand this to a national UDP network and in fact that was a strong urging of an advisory group that we convened an external advisory group that had been helping us with the undiagnosed diseases program and we were fortunate to be able to identify resources to make that a reality. It is envisioned the creation of a network of something like five to seven extra oh by the way needless to say all common fund projects have to have institutes help coordinate and run them and NHGRI is one of the three lead institutes and centers involved in leading the common fund and in fact we have people here from NHGRI who are heavily involved in coordinating this and programmatically developing this as it becomes reality. Along the way, the idea is to create this as a network and have more robust having a group involved in this and improving the data storage access and analysis both the phenotypic data clinical data and especially the genomic data coming out from the studies of these individuals. It also will be an arm that will involve a lot of researchers to elucidate the mechanisms of disease. Oftentimes they get down to the point of having a gene identified or a genetic defect having no idea what the basic science mechanism that lead to that disease we wanna facilitate those studies that involves training and fellowship programs for rare disease diagnostics that are in the early planning phases. And so those of you who are interested and some of you might be familiar with there is an RFA that recently applications came in on for the creation of a coordinating center that will be coordinating this network an upcoming review is pending. And then RFA does our program announcement right now involves facilitating gene function studies to investigate rare and undiagnosed diseases and the receipt date is coming up later next month. So stay tuned, there will be more and if anybody who's interested in learning more there are people here like Teri Manolio, Gene Passamani who could tell you many details about this and point you in the right direction as this rapidly evolving takes place. Onto a third again interrelated seemingly eclectic topic I also wanted to tell you about another major development going on at NIH which I think touches things in genomic medicine but it's far broader than genomic medicine and it relates to the big data computational biology bioinformatics, the recognition of one of the areas of greatest impedance mismatching between the ability to generate data and being able to analyze it. And here there is some breaking news that I can tell you that some of you will be interested in either because it'll directly affect you or because you will recognize this is sorely needed in biomedical research right now. I think all of you would agree the largest bottleneck in biomedical research in metaphor and there's many metaphors it's either the data coming out of any of these new technologies be sequencing technologies or technologies it's like drinking water from a fire hose or is it like a tsunami of data whether it's an avalanche data pick whatever you want the truth is us here those of us in biomedical research and clinical research find ourselves in the big data era once upon a time just for climatologists once upon a time just for particle physicists now we're here and it is an awkward place to be at this moment in time where we can generate data far faster than we can analyze that data. Now I stand here obviously speaking as a genomicist and clearly genomics is one of the many types of data that's creating this big data problem it's not just genomics when it comes to this NIH bottleneck there are other omic technologies that are coming forth there clearly are imaging technologies that have greatly accelerated the pace of generating data either at a cellular level or an organismal level or clearly phenotypic data something I know many of you are interested in and exposure data especially as technologies become better and then clinical data which of course is very relevant. Recognizing the importance of this area and NIH feeling overwhelmed about this Francis Collins appointed a working group of his advisory committee to the director about two years ago now and for a year they studied this and then about six or eight months ago they formally issued a report which is at this URL if you're interested in reading it the report of the data and informatics working group and the bottom line is there are major changes that are now taking place at NIH because the recommendations of this report we are tackling the big data program the big data problem I'm happy to tell you about this. First of all the leadership position that we'll be recruiting for is something called an associate director for data science I've actually been asked to be the acting director in the interim but we'll be launching a search it's a very high level leadership position or to NIH director there will also be creation of a new group at NIH internal to NIH called the scientific data council that will be responsible for many things including strategic planning in the area of big data broadly defined it will also be responsible for NIH initiative known as big data to knowledge which will be a new program that'll be jump started in the long run over a seven year period it'll be completely supported by contributions from all of the institutes recognizing this is a trans NIH problem the new initiative which will begin next fiscal year we'll have four major components I'm just gonna touch on them recognizing that there's a lot under the hood here and I'm happy to talk to any of you about it at break major programs and policy changes to facilitate broad use of biomedical big data developing methods and software biomedical big data enhancing training for biomedical big data that would include kinds of data we'll be talking about here and also a staff for biomedical big data so these are all things that you can imagine if it's starting next fiscal year we're gonna be very active in getting off the ground if the funding starts then that's not that long from now and so needless to say you can stay tuned and you will be hearing much more about it the good news here is there's a major commitment at times of fiscal constraint there's a major trans NIH commitment to try to fix the big data problem in biomedical research and we're gonna be doing this in a very aggressive timetable finally and I think I'm one minute away from getting the finger from Terry Manolio I'm gonna end you on a very happy note I'll give you some exciting things going on in 2013 why is 2013 exciting it's a celebratory year for us recall it'll be the 60th anniversary of the Watson Crick double helical structure discovery and description and the 10th anniversary in April of the completion of the human genome project recognizing this as a marvelous time especially other things being tough these days we need to celebrate we need to embrace we need to talk about this remarkable especially the 10th anniversary of completing the human genome project there are many things the Institute has planned you may want to look at this URL this website is now live and it talks about a lecture series that we're gonna be having at NIH and all day symposium in April all of which will be video cast and videotaped and video archived all of you will be able to see and there'll be some like we've lined up terrific speakers for all of us and other things that will be happening in particular though what I want to tell you about is this new partnership that we have with the Smithsonian Institute where there will be a genome exhibition that will open in June of this year this exhibition is a pretty looking design representation of it is shown here is in the very advanced stage of design in fact in my hotel room is the 95% design that I'm reviewing actively and it is gonna be fantastic it's gonna open at the Smithsonian's National Museum of Natural History Vence Bonham is here at the meeting and he is spending hours a week working on this project and he and his staff it's been a marvelous and I tell you we got a shout out in nature at the beginning of this year first issue they talked about one of the exciting things happening in science and art and that's this exhibition and in addition to this exhibition I will tell you there'll be a significant amount of education and outreach planning and programmatic activities under Vence's leadership a lot of web resource materials and so forth and it's gonna be spectacular so I want everybody in this room to commit that they will come to Washington DC sometime after mid June of this year it will be at the Smithsonian Hall 23 just 23 pairs of human chromosomes easy to remember right next to the Hope Diamond hard to forget just follow the crowd and come see our exhibition it'll be there for one year after which it will travel for about four to five years around North America one of the coolest things I've been involved in and I've been involved in some pretty cool things so this has been a lot of fun and we're happy to tell you more about it but I wanted to end on that note so I will stop there and I'm happy to take any questions, thanks. Thank you, Eric we may have time for one or two very quick questions seeing none Mira, why don't you go? I figure too You can definitely catch Eric throughout the meeting so please do so Mira you can go ahead and go up there's one other person that we should highlight that we didn't and that's Gene Passamani who introduced himself with NHGRI and he really has been key to pulling all the organizations together and organizing and we'll be working to summarize the output of the meeting so we wanted to identify him as a key contributor so thank you Gene.