 Okay, well good morning everyone. It's remarkable how busy the pace of activities at NHGRI and NIH and in genomic seems to be. I can tell you if four months flies by, I feel like I'll never fill a director's report and then by the time the staff's prepared everything, it's a huge amount to review, which in many ways reflects sort of a lot of things going on both scientifically and otherwise. I've now been director for just shy of a year and a half. People ask me routinely, how's it going? I would say I'm getting very comfortable in the job, but the pace never seems to slow down and a week doesn't go by where I don't learn something new that's important. So at the same time, there's a lot of exciting developments, but as we're going to discuss over the next, I don't know, hour and a half, a lot of hard challenges that are ahead and we're going to need wise input from many of you about. Before I start, I did want to point out that emails went out about this, but I do want to let people know that the Institute made a decision to start webcasting live these council meetings and to video archive them permanently. This doesn't come free. It requires a little bit of money, not a huge amount, but it does require money to do it. We actually surveyed to see what other institutes have been doing and a good number of them do this and have been doing this for a while and so we thought we should be at the contemporary side of the spectrum and to be open and lots of people are interested in some of these things and so we thought this was a good investment of money and time and so these will be live and the open session and in addition, they will be permanently archived. So I just want to stress microphones are live, so if you should be cautious and careful, just make sure you know when your mic is on or not and similarly, you know, we want to have the same frank open discussion that we always have during open sessions. However, if there are things you want to discuss that you think should not be broadcast widely, obviously show your discretion. We have opportunities to talk to council when we go into our closed session and that seems appropriate to save anything controversial for them. So with that, I will also remind you that our usual routine is we've now have in place this electronic resource associated with my director's report. This is all available and will be permanently archived as such and the actual slides I'm showing are readily downloadable either as a PowerPoint file, so you'll see exactly everything that you're going to hear mostly is going to be texted out and also as a PDF file just of the slides. And also we've associated with many of the slides in the bottom right-hand corner. It will show a document number which reflects a number on a table that we have on this website shown on this slide where all these electronic resources will be permanently archived or that you can get to when you get your wireless going and working on wireless for some of you. But all of this will be available even if you miss it live and access it later for your use. Similarly, we have certainly found in preparing this director's report that these are sort of the key seven areas. It's worked well and so I'll just keep going with this general organization until we find we need another category. What gets put into my director's report is it very coordinated with things that are going to be discussed in the open session and there are going to be a number of presentations this morning into the early afternoon. We'll have one topic of interest that Lucia Hindorff will update you on Fijian 1 and then we will have two important program updates. One about the encode program by Lee Spyingold and what about microbiome research in general by Peter Proctor. And we will then additionally have meeting reports, two very important meetings that have taken place since the last council meeting. In each case, members of council participated in these workshops. One very recently, collection storage management and distribution of next generation sequence data. Peter Goode will give an update about that and I'm sure there will be important discussion coming out of that presentation and a workshop held just a couple of weeks before that. Genomics and health information technology systems exploring the issue and Jeff Struing will give a meeting report on that. And then we will have three concept clearances to discuss. One about the future of encode, Lee Spyingold and Peter Goode will present. One on the genomics of gene regulation, whether they're going to flip flop, it will be Peter Goode and Lee Spyingold. And then we will have a third one on analyzing the whole chip for GWAS that Terry Minolio will present. So that's the plan for open session and I'll just launch in and start off with NHGRI updates. It's easy to start with the number one highlight of for NHGRI since the last council meeting, which occurred just literally two days after the last council meeting was publication of our new strategic plan. I have provided at each of your seats glossy, beautiful reprint of this. Of course, it's all readily downloadable PDFs and so forth from our website. But I wanted to put into your hands an actual glossy reprint that we made and are now distributing widely and are very pleased with it. I've gotten very good feedback about this. I thank all of you for your contributions and they were substantive leading up to it. And in general, I think everybody is very pleased with and it really has served as a key discussion focus point for lots of things you're going to even hear about during this council meeting. The press treated us well. We've got 75 media outlets, blogs and news release distribution websites that either had printed media or posted stories about our new strategic plan that included an interview by me in science. It included obviously genome web covered it nicely. Wired magazine covered it. And Nature magazine also covered it. But in addition, Reuters wire story ran on Yahoo! Vancouver Sun Ottawa citizen CNBC com, among many other websites. Also, the bloggers got interested in this. And I guess they actually arranged to have me talk on a conference call. It was a bloggers only phone call with me and several of those bloggers then these are professional bloggers. And they posted stories about the new strategic plan and it sort of rippled its way out. So we tried all sorts of ways of outreach. I think it got got very nicely covered. And I think continues to do so. The day after the strategic plan came out, we had this all day symposium, a decade with the human genome sequence and brought in all sorts of people to share their views of what life is like now having a human genome sequence in hand. Jim Watson came and participated in a panel discussion with several others about sort of the nuances of having your genome analyzed. And it was very well attended. We once again put all this up live. And we had close to 2000 live viewers of this symposium. But we also archived it on our genome TV channel of YouTube. And you can see it has, you know, well over 1000 hits for many of the for some of the talks. And I will tell you, by the way, we post this, lots of people are watching it. And in March, I was on a trip to Africa. We'll talk about that later. And it was interesting talking to you sometimes lose perspective of who's watching and what kind of outreach you're doing. When numerous scientists, African scientists I talked to came up and profusely thanked me for all the things we put up on our website. They say that they use it in their classes and they watch it. And so you sort of sometimes forget that that for some individuals in this world, this might be the only access they have to hearing some of these luminaries talk that we get to see all the time at meetings. And so it was very gratifying to hear that. So it was lots of viewers of this Eric Landers talk was so far been the greatest hit. You know, but it's only 17, not even 1700 yet. I mean, if you really want to play in the big leagues, you got to get your numbers up higher than that. For example, last council meeting, I showed you this video that had Carly Easter and I shown you how you purified DNA from strawberry. We're almost up to 8,000 hits. So you know, I mean, Lander needs to learn how to work with strawberries and have a good sidekick and he'll get many more hits than just giving impressive lectures in natural auditory, but in any case, more seriously. Moving on. So that was the strategic plan. That was our symposium but we also had to get back to business of running an institute and dealing with many issues. And one of the things that is important I should announce in terms of a new appointment at NHGRI is Dr. Laura Rodriguez, who many of you know, who for a long time has been acting director of our office of policy communication education within the office of the director. I thought it was time to take acting off and so she's now the permanent director. And I will just tell you quite candidly that Laura does play a major role in working with me on a number of projects and has really been a key advisor I turn to almost daily about a number of things that are really, really very important for this institute to run as recently this morning. She gave me a budget update, which I'll be telling you in a minute. There's just so many things in the realm of policy communication. Education is so important to our institute and Laura just does play a marvelous role doing that and congratulations to her for this appointment. Well deserved. Rarely do we have people retire from the institute but it does happen and Gary Temple last day was the end of March of this year. Gary actually came to us not that many years ago but he played a vital role in the mammalian gene collection program in its final days and he also worked in helping establish GTECs and he really did make substantive contributions in those projects and it was great to have around but at the same time he has now getting to enjoy his well deserved retirement. Another update in terms of individuals associated with the institute starting in June of this coming summer, Dr. Mark Williams is going to be spending a week per month at NHGRI as a special advisor to me in the area of genomic medicine. Mark is currently director of the Intermountain Healthcare Clinical Genetics Institute in Salt Lake City and as you might imagine from reading our strategic plan there are many new areas that NHGRI wishes to get more involved with for which I am and people at the institute are seeking Mark's advice. One of many examples is the interface of genomics with electronic health records which we're going to talk about in a minute from a workshop and also the development of clinical genomics information systems and so forth. And Mark's really was very helpful and participated in some of the events leading up to the formation of strategic plan. He's also been involved in several workshops we've had since then. And so I wanted to bring him on board starting off as a week a month to advise me and to help us sort of move forward on some of these initiatives. So that will start. You'll recall that last council I mentioned another special advisor Karen Rothenberg who's actually sitting here just joined us. And Karen will be joining the institute for one year full time starting the summer. She'll actually be splitting her time between the institute and also the the clinical centers bioethics department. And we're excited to have Karen joining us and she will be playing a very important role in a number of projects that are that are going to really be a focal point for me over the next year. Speaking of Karen I will also tell you that in a recent outreach program a small group of senior University of Maryland law school students participated in a course in a subsequent workshop that focused on issues raised by next generation genome sequencing research. And Karen partnered with a member of our institute our bioethics core Ben Berkman who's a law lawyer legally trained. And the students worked also with bioethicists and policymakers from NHGRI to analyze the legal ethical and regulatory questions that are emerging in the field of genomic research. And to think about the ways in which the regulatory framework might need to evolve. And the students are shown here they prepared a series of policy papers about a range of issues dealing with CLIA group harms and synonal findings. And then they presented it to a group of us you can see in the upper picture sitting around a table for a couple hours I think. Back in April and it was pretty impressive considering these were all senior law students in like their last two weeks or three weeks of law school and yet they were incredibly engaged incredibly insightful and it was they're now preparing a consensus document that's going to be prepared and forwarded to us for final review. So that was a fun recent outreach effort. In terms of workshops some of you may recall at the early finale meeting for the strategic planning process last summer there was genuine disagreement about the importance of having NHGRI get involved in fostering research at the interface of electronic health records and genomics. I was actually surprised by that disagreement but then the other thing brewing in the background of course is that electronic health records are are a very important part of the Obama administration's plans for healthcare reform and there's lots of activities within the federal government around electronic health records. And so between hearing that disagreement wondering what our place in this evolving area should be I decided it was time to have a meeting and so it was actually one of the first meetings I said we absolutely have to have after the strategic plan comes out and so we had a meeting on this topic where it was really I think highly productive meeting exploring a broad spectrum of issues facing the intersection of clinical informatics systems and genomics. I'm not going to tell you much about it except to say that Jeff Strewing is going to give a presentation about it later but that was the genesis of that meeting. And then another meeting that was just a couple of weeks ago and I think as many of you are aware there's been some serious issues arising from budgetary constraints for databases and particularly for NCBI that are happening at the same exact time that there's a prodigious amount of genomic data sequencing data being produced. But in addition to these budgetary constraints I would also point out that there really are some important scientific and technical issues that needed to be discussed in detail around the kinds of data being generated with these new technologies. And so we had a meeting just a couple of weeks ago sponsored actually by several NIH institutes. Cancer Genome Atlas, NCI and NHGRI took the lead on organizing this but I don't want to claim that it was just R2 institutes. It was really a number of institutes recognizing that it was going to affect them as well, participated in this, helped fund it and so forth, organized it. And the meeting aimed to identify the issues that are really coming to the fore with respect to all this data being generated. It also aimed to develop a plan for how the scientific community can share large data sets in a cost efficient and a cost effective way but also a scientifically rational fashion. And so again I'm just setting this up for Peter Goode. We'll be discussing this later and I'm sure there's going to be a lot of discussion around this. This is a very challenging area we're going to I think face as a community not just in the next few months, probably in the next few years and worth some significant and careful deliberative thought. So those are the NHGRI updates so let me now talk a little bit more broadly about NIH and unfortunately like the weather yesterday and maybe the weatherless afternoon it's a lot of some bad clouds on the horizon. Let's first start with what went on with fiscal year 11 which is the one we are currently living through. So it's not a very pretty picture as many of you aware after a down-of-the-wire drama many closed meetings and a near shut down of the federal government the president did sign a bill funding the federal government through the end of the fiscal year on April 15th. In the end NIH's budget is thirty point seven billion dollars which is point eight percent less than last fiscal year and unfortunately it's the first cut to the NIH budget in a long long long time. Meanwhile the specific numbers for NHGRI we actually don't know precisely we roughly know but the precise number still is being finalized by the department and by the office of management of budget but we pretty much know it's going to be roughly point eight percent less than last year and so we are planning accordingly. Well while it's going to be very difficult to absorb into our research plans for the year it's certainly significantly better than some of the levels that were floated during the negotiations and and certainly relatively better than what some other scientific agencies got with respect to their their final numbers and their relative cuts. So but the realities of this number is going to be challenging all the way around but one particular sobering fact is that the overall success rate for NIH grant applications may fall was low to 17 to 18 percent which would be the lowest in history. By the way to put it in perspective biomedical inflation has reduced the NIH purchasing power back down to about the 2001 level. That's where we're operating purchasing power wise. Well what does that mean in terms of what council particularly watches over and that's our extramural awards. I will tell you that the cuts the point eight percent cut coming essentially over half way through the fiscal year basically meant that the cuts were going to come out of the extramural budgets was not practical at that late of a stage to make substantive cuts, further cuts to the intramural program or to our administrative parts of our institute and so as an NIH pretty much every institute decided they're going to have to take the point eight percent cut out of the institute, out of the extramural line of the of the budget. And this generally coordinated across the NIH rather than having every institute do things a little bit differently. So some of you may have seen emails about this or heard about this I can just run through it in terms of our non-competing research awards these are being reduced to one percent below the fiscal 10 award levels for the most part virtually every institute because of their own special circumstances NCI had a special exception and they're doing their cuts at three percent level. In terms of competing research awards each institute and center will manage its competing portfolio using funds that have not been committed for non-competing awards so that's handled a little more on an institute by institute basis. The sensitivity to new investigators so NIH will continue to support new investigators on R01 equivalent awards at success rates that are equivalent to that of established investigators submitting new R01 equivalent applications. So the attempt is to try to make sure that new investigators are not disproportionately hurt and then in terms of training trainees the NRSAs or otherwise now known as Ruth Kirstein National Research Service Awards NIH will implement a two percent increase at all stipend levels. Now that might sound odd that you'd be increasing that at a time when everything else is getting cut. The reason for that is for a long time the trainees stipends were being ignored and we're actually still trying to play catch up to what actually was a was a problematic situation. So we didn't need more discouragement of our trainees and so this decided to just fight it and do this now to continue to try to get it where they need to be. Now one of the things I thought would be interesting and certainly something I continued to learn about more and scrutinized more is how things like this these criteria as they're applied how do they affect NHGRI compared to how do they affect other institutes and it might be worth reminding you how different we are and I'm not saying we're better I'm not saying we're worse it's just different and so when you see these kinds of adjustments you realize that it affects us versus other institutes slightly differently. So let me show you some data that recently I had put together using summaries that are readily available on the web but if you know now we're going to shift to the fiscal 12 budget and this is just the president's budget but you're going to see it's not the numbers that's relevant it is the proportions. This is what it looks like for NIH across the board in terms of the major categories and I only want to point out only four things really to keep your eye on is the the RPGs the research project grants the big blue thing the research centers the red thing at about 12 o'clock to one o'clock and then intramural research from about two to three in green and then the last one is research and R&D contracts research and development contracts which from about three o'clock to four o'clock those are really the four categories that sort of really are heavily take the bulk of the research dollars and that's NIH averaged out across all institutes and look at NHGRI and you could really see what a different composition we have of those four areas. In particular it's sort of stating the obvious a much smaller percentage of our total goes to RPGs individual grants obviously our genome sequencing program and other structures we have in place the bulk of our are a much larger slice and in fact the biggest slice of the pie are the our research centers as has been the case for since Francis Collins created the intramural program we have a one of the largest practically the largest intramural program relative to our budget it's a number that has been steady at about 20 percent for like 15 years or something like that so that also makes us different and if you look in the R&D contracts you can see that very small slice compared to the NIH average just something to keep in mind I just want to share this with you again when how we adjust to this tough budgetary times it has to be a little bit different the way we have the money distributed and I want to put this on the table now I think depending upon what things are like next year or things do get worse and harder and harder decisions are going to have to be made it's just it's always worth keeping in mind what we look like and are in our relative categories as opposed to getting too fixated and what the NIH overall average is because it's just very different so that was the purpose of showing that so speaking of fiscal 12 now let's get into the numbers moving on the president's budget proposed budget for 12 is is relatively kind from the point of view at least it's an increase $32 billion for NIH a 2.4 percent increase now not that entire 2.4 percent translates to NHGRI at the moment we are penciled in at 1.7 because there's other things that the differences being used for such as the creation of a new therapeutic center we're going to talk about in a bit so that's the president's budget but of course we have absolutely no idea what this is going to lead to it's just gratifying to see strong support from the White House for the NIH but there are the realities of the new Congress so as one example on behalf of the majority party in the House of Representatives Representative Ryan shown here introduces path to prosperity budget which aims to cut government spending by to down to 20 percent of the gross domestic product and it's currently at 24 percent now the budget resolution is a high-level framework from which the appropriations committee takes its lead and sets the actual dollar levels allocated for each appropriation subcommittee to disperse so therefore the budget resolution included no concrete numbers for NIH or NHGRI but some projections anticipate cuts to around this proposal down to about the fiscal 2002 level and the House passed the Ryan budget resolution on April 15th so we're obviously watching this and some of the cuts and the committee that we are in some of the cuts are starting to be applied at least as a framework not that they haven't gotten NIH at all yet but again that committee has to operate within their allocation and I wish I could report something optimistic and I don't have anything optimistic to report at the moment and in the one hand you sort of feel gratified with the White House's number but you also it could be total dust from by the time all the battles are fully played out in downtown so we wait microphone you say the 2002 level what does it correspond to in actual dollars does anybody in the back know that dollar would gosh forbid look like I don't know I don't know what that number is I think but it just can't be a lot less I don't know I'm sure I mean we're sure we can look it up or calculate it pretty quick and maybe somebody back there can try to do that but in the meantime but you know I mean some of the numbers being thrown around by other elements of the committee that subcommittee where I mean you know 10% cuts and things like that I mean it's just can't even can't even comprehend it to be honest with you and and keeping yeah there's just for lots of reasons just can't even comprehend it so that's where we are and I would love to be upbeat and just all smiles but I can't be because we just we are just sort of sitting here with it just you know white knuckling to see what how this all might play out let alone what kind of drama we will have as crunch time gets closer and closer to the end of the fiscal year and possible shutdowns and I don't even just don't even want to know how how unpleasant that was when we almost shut down just even leading up as close as we got was really really unpleasant so okay but there is a lot of new things that will continue to happen as part of this budgeting process so the appropriations discussions have now gotten underway with the senate hearing on the NIH by the senate subcommittee on labor hhs education and related agencies occurring last wednesday and involved frances collins obviously and several other institute directors Harold varmas Tony Fauci Griff Rogers Susan Schoen by by most accounts or all accounts I've heard it went well Francis highlighted four themes which included explicit reference to genomics research and also recent advances in things like accelerating discovery through technology applying science to prevention enhancing us economy and global competitiveness and and not surprisingly advancing translational sciences barrier I watched first mark and I actually watched virtually the whole thing during the question and answer period in addition to obvious discussions about the challenges being faced by NIH in light of the fiscal year 11 cuts there was lots of discussion around the new translational sciences center which I'm going to talk about in a little bit but I actually thought the questions went very well as answers went very well other topics that got highlighted during the question and answer included training needs and and activities to encourage young people to come into the research career pipeline despite dark clouds on the horizon partnerships with FDA the significance of government investment in science and the potential economic returns the topic will come to in a minute and the potential effect of placing strict constraints on the numbers of funding levels for grants and the various ways of trying to titrate those challenges so those are the kinds of things that were discussed genomics was needless to say very well represented even showed a picture of our declining sequencing costs talked a lot about TCGA talked a little bit about the Beijing genome institute and and using that as an example of the danger of decreasing U.S. competitiveness that we're not careful and talking about genome sequencing as part of clinical care so speaking of new translational sciences center let me just review for you and send you to document 6 if you want to read more what the latest is this obviously has captured a lot of attention this is Francis's flagship new initiative as NIH director it is currently proposed the national center for advancing translational sciences or NCATs mission is to advance the discipline of translational science and catalyze the development of test the development and testing of novel diagnostics and therapeutics across a wide range of human diseases and conditions it has been a little bit of a lightning rod at times in part because a lot has been misunderstood about it and and and a lot maybe is because we were not communicating effectively about what this is and what it's not so it's not been without its controversy but let me just remind you that what NCATs is intended to do is to facilitate not to duplicate other translational research activity supported by NIH and there's multiple other institutes that do substantial amounts of translational research this is aiming to facilitate it it's also not aiming to replace the private sector in drug development but to complement it as opposed to competing with the private sector and importantly it aims to to reinforce and not reduce our overall commitment to basic research and so a lot has gone on just making sure that the right facts about NCATs are are being featured both in the press and scientific community and so forth and some of this again was discussed in the senate hearings last week I should point out that the bulk of NCATs is not going to be all new it's going to be reorganizing parts of NIH into one organization all focus on translational sciences and these are sort of the seven major things that are going to constitute NCATs when it opens as it's expected to on October 1st of which really the first six are already in place and it's this Cures Acceleration Network which has been authorized but not appropriated and hopefully if it gets money put into it next year then that would sort of be the new part of all of this but notice I also have things in green and things in white the three things in green are the three things that live in NHGRI right now so it is important to recognize that this will be components that of this new program that we've been incubating in some cases in the case for example of the first components of the molecular libraries program in particular the NIH Chemical Genomics Center headed by Chris Austin has been part of NHGRI since about 2002 and these others have come on the scene subsequently and really actually far more recently than Chemical Genomics Center this is a highly productive highly successful a group of activities within NHGRI about 125 people or so and if everything goes as scheduled that's a all of this will move out of our institute en masse into this new organization October 1 so NHGRI will shrink in size about from about 750 people or something like that and lose about 125 people I mean we've been preparing for this not a surprise so we all know this happening but I just did want to point out this is an example of things that have been growing up within NIH and then it'll be moving into this new enterprise similar to the fourth bullet of the clinical and translational science award CTSAs this has been part of NCRR for a number of years and again that will be picked up in block and moved into NCAS so wanted to update you on that again this is all requiring just last levels of approval and assuming through the various channels and assuming all of these approvals happen which everybody seems to be optimistic they will this entity will begin on October 1st of this coming year okay moving on to appointments Amy Patterson at the NIH level was appointed the Associate Director for Science Policy she's been serving as the acting Associate Director since the fall of 2008 previous to that she was the Director of the Office of Biotechnology Activities within the NIH Office of Science Policy when she was named to serve as the Acting Associate Director previously she was at the FDA serving as Deputy Director for the Division of Cellular and Gene Therapies and a Senior Medical Officer in the Center for Biological Evaluation and Research and we do interact with this office quite a bit and this is an important appointment for us another appointment at another NIH Institute gets us closer to back to genomics this fall Barbara Wald will begin a stint as the interim director of this newly created NCI Center for Cancer Genomics while on sabbatical from Caltech Barbara is well known to the people around this table certainly genomics community a former member of council she's a brand professor Molecular Biology and Director of the Beckman Institute of Caltech well known to us and has served both as an advisor and a grantee and we think this is terrific that there'll be an interim director of this important Center obviously very very important for the Cancer Genome Atlas and future initiatives in cancer genomics in partnership with the NCI and last update if you're interested for about NIH is their new website they unveiled I think a much more much improved website I'll just leave it at that much more contemporary user friendly look and feel of course we got a screenshot when they were featuring one of our programs DNA day but it's just it's good to see a more contemporary face to the NIH to the outside world so if you haven't poked around NIH.gov you should do that at some point okay let me move into genomics updates then the first is is sad news that all of us are aware of Charlie Epstein passed away in February of this year after a protracted battle with pancreatic cancer he was 77 years old Charlie conducted groundbreaking research on Down syndrome including making a mouse model or Down syndrome as he also was came to the public attention as a survivor of an attack by the unabomber as many of you may remember at the last council session I mentioned that Charlie was awarded the McCusick leadership award at the 2010 American side of human genetics meeting Joe Handelsman was honored with a presidential award for excellence in science mathematics and engineering mentoring she works in the microbiome metagenomics field and she also heads the NHGRI training grant at Yale University so congratulations to Joe Steve Quake professor of bioengineering and applied physics at Stanford University and investigator in the Howard Hughes Medical Institute and NHGRI grantee has been awarded the 2011 Pro-Mega Biotechnology Research Award by the American Society of Microbiology this award honors outstanding contributions to the application of biotechnology through fundamental microbiological research and development another award goes to David Page one of two investigators awarded the 2011 March at Dimes Prize in developmental biology for his work in explaining the biology of sex chromosomes David studies the why chromosome revealed its role in a complex genetic system with many specialized functions far beyond just determining male sex David is director of the Whitehead Institute he's also an HHMI investigator an extensive track record of interactions with NHGRI as a grantee and advisor and grant reviewer and lots of other things we call on David to help us with and so we're proud that he won this award but then speaking of David newly inducted into the American Academy of Arts and Sciences both David Page and Bob Kingston Bob was elected for his work in understanding the fundamental mechanism of how eukaryotic enzymes can modify chromatin and Bob heads the department of molecular biology in the Massachusetts General Hospital and his vice chair and professor in the Department of Genetics at Harvard Medical School and Bob was also a former ENCODE technology grantee so congratulations to both of them and then just announced 72 new members and 18 foreign associates elected to the National Academy of Science and it was a good year for genetics and genomics and seven very good friends and grantees of NHGRI and you can see who they are and it includes our new council member sitting to my right David Kingsley so congratulations David but it also includes other great friends of ours former or I can immediately see a couple former members of our intramurals Board of Scientific Counselors Art and Art Podette and Hal Dietz and other grantees and folks that we call on in various ways so this is an impressive maybe this is a good trend because previously previous years there's not this many genomics and genetics folks getting into the academy so maybe this is a foreshadow of years to come so congratulations to those seven and then to embarrass another member of council Reuter Science Watch analyze citations of publications during 2010 and the table lists the individuals fielding the largest numbers of quote unquote hot papers published over the preceding two years and you can see another council member Rick Wilson on here along with some other familiar faces I will point out Eric Lander despite his low YouTube hits has made the list for the seventh time including 1998 and then a continuous run between 2001 and 2004 and so congratulations to all of these individuals each year technology review looks at the advances that have happened over the previous year and selects 10 emerging technologies that they think have the greatest impact and there were two of them in genomics in 2011 one talked about work that Steve Quake did he heard about something about Steve earlier and he was with one of the top 10 technologies mentioned and then for her work in cancer genomics Elaine Martis is known to all of us and a highly respected member of the genomics community good friend of NHGRI's grantee at Washington University was also honored by being selected for the top 10 as well so congratulations to both of them so the Milwaukee Journal Sentinel published a three-part series that told the story of this young boy Nicholas Volcker who's now six years old and was afflicted by a baffling condition that was affecting his intestines and this was a story at the medical college of Wisconsin where they did whole exome sequencing and were able to pinpoint a causative mutation on the X chromosome in the XI AP gene surprising finding but immediately gave insights for a possible therapeutic avenue which involved a bone marrow transplantation which has remarkably improved his condition and this was a story that the Milwaukee Sentinel ran about Nicholas and the reason I'm telling you about this is because they won the Pulitzer Prize for this story and they talked to a number of us and it got a lot of attention so if you actually want to know what it's like to win a Pulitzer Prize here the folks involved were watching to see what happened and then they learned that they wanted and then they don't work for the government so they can instantly start to drink so so I will also point out that in fact this exact story I mean the story that they covered about this little boy Nicholas was used by Francis last week in the Senate hearings as a vivid example of how genomic advances can be applied to improving human health so this again this story's got lots of press and publicity as it should it's a remarkable and compelling story all right we'll go to that to a less fun story so along with a few other resources NCBI is discontinuing the sequence read archive database later this year due to budgetary constraints and they will close SRA and the trace archives in phases with an expected final closure date of November of this year they plan to continue to make SRA available as a public archive for 12 months after it is decommissioned and then after 12 months of usage it'll be evaluated in a final plan for the archive will be determined they do plan to continue to maintain DB gap now a lot has happened and I'm sure we're going to talk about this when Peter Goode makes his presentation and probably maybe even talking about it more tomorrow but NHGRI staff has been active in discussions with NCBI to determine the best path forward a data inventory of funded projects was compiled which provides an estimate of data volumes from all NHGRI projects for the next 12 months the same data inventory was done to other NIH institutes as well so that everybody can figure out what they're going to do with data they're generating with their grant funds and NHGRI staff has been working on large genome projects that are working with their communities to determine the best course of action for their specific projects and there are different solutions that are coming up whether it's cancer genome atlas or human microbiome and so forth in the future it's really quite likely that data from these projects may be stored somewhere other than NCBI and that's one of the issues we'll be talking about so it's all relevant for what Peter Goode is going to discuss in describing the workshop we recently have and I'm sure we're going to have lots of discussion about some of the broader issues of what are we going to do about getting data access at a time when the amount of data being generated is so huge at a time when budgets are going down and so I'll set that up for what I'm sure will be a lively discussion and I think is going to require not just discussion once but probably multiple times in the coming months another consequence of budgetary limitations was signed going on at the CDC specifically their Office of Public Health Genomics which was established in 1997 in an annual budget released last year of close to nine million dollars it's funded knowledge synthesis translational research and population data studies for example the office funded both the evaluation of genomic applications in practice and prevention otherwise known as EGAP as well as the genomic application of practice and prevention network gap net EGAP was the only national independent process for review of the evidence base for the evaluation of the clinical utility of genomic applications so I'm setting all this up to tell you that despite it's relatively modest budget the office has has you know been a high profile funder of translational genomics research including family history activities but is being downsized now starting next year by over 90 percent especially being you know all nearly eliminated in terms of the 90 percent cut so we've been in communications with this group and that group's been in communications both with us and other parts of NIH about you know what are the implications of this for the field of genomics in light of this major budgetary cut to this part of CDC which is really in many ways the focal point of genomics activities there another thing to update you about the secretary's advisory committee on genetics health and society has now been disbanded and I've reported that previously their final report has been released and the topic was genetics education and training and health of healthcare professionals public health providers and consumers and if you're interested this report is now open for public comment some of these recommendations that came out in this report intersect with elements of NHGRI's new strategic plan and also relevant to some of what was discussed here was this whole issue of genomics and electronic health records that you're going to be hearing about later today as a consequence of the meeting that we have moving on the presidential commission for the study of bioethical issues there was a recent meeting of this commission at which they started the discussion on emerging technologies for diagnostic and predictive tools in particular in the genetics and neuro-imaging realms Francis Collins was the first speaker and highlighted three areas he thought the commission should focus on genetic discrimination incidental findings and return of results and forensic uses with civil liberties implications Hank Greeley discussed the implications of non-invasive prenatal genetic testing using fetal DNA and maternal blood Ellen Wright Clayton argued that attempts to insert gatekeepers between individuals and their DNA are doomed to failure NHGRI staff is in communication with the commission the commission staff about possible directions that their study of genetic technologies might take I'll also point out that the commission is also looking at human subjects research in light of revelations about the Guatemalan STD experiments Tuscany and the Henrietta Lacks story so the commission is going to be taking up a study into the ethics around contemporary human subjects clinical trials and that this study will be due out this fall so two things obviously major relevance to genomics there are early plans to put into place an international rare disease research consortium there was a workshop that discussed this very recently just last month on participants including funding agencies patient advocacy groups researchers industry and regulatory agencies and the consortium goals are to deliver by 2020 diagnostic tests for most rare diseases and 200 new therapies for rare diseases lofty goals but I'm not a good goal to get movement in this field so coordination at the international level is necessary to meet the consortium goals and the consortium policies and guidelines to for research activities are under development as are trying to foster collaborations among stakeholders it's not yet decided whether NIH will join the consortium as a whole or whether individual institutes will join them as their own entities and there are and very NHRI like style there's seven working groups have been established and NHRI is going to be well represented on many of these working groups obvious of I mentioned you have relevance to our extramural plans getting increasingly interested in using genomics the facilitate research of rare diseases genetic causes of still to be discovered disease genes and so this could become very relevant as those plans solidify in our extramural program terms of new journals I wanted to point out that BGI and Biomed Central plan to launch a new journal for large-scale biology called Giga Science allegedly this year it will publish and serve as a data repository for studies generating large biomedical data sets including genomics studies interesting they're going to provide DOI numbers for large data sets so they can count as publications so it's going to be interesting again a different model for a journal where they're going to take on the data themselves and assign a tracking number for that for that data set so the proposal is they'll actually serve as an archive that data from what we have heard from what we have heard that's what they've said they're going to do but I don't know I don't know if anybody here you know we only know what we read and there's a lot of a lot of details we haven't heard of yet and so and BGI's involvement is that the data will be stored at BGI I think BGI is helping to organize this Laurie Goodman who I actually know well because she was one of the an editor of genome research executive editor of genome for a number of years and actually has gotten quite involved in working with Chinese scientists writing and publishing and so forth she's going to what we read she's going to be the editor of this so it's just a different model it's a different you know the whole business model is completely unclear how's it how are they going to recover costs are they going to be finding it directly or is it going to be publication charges or user charges so it's just yet another little thing to look at and watch as other dilemmas about data storage and archiving that come to the forefront Adam you know more go to a microphone since wait wait wait get on the mic because I again people are listening remote there's another journal with this model that sounds like it's starting up and I was just racking my brain trying to remember but I thought it was a genetic society of America was starting a journal like this I think you're right yeah is it a similar thing where they're taking data yes oh I think I saw something okay all right moving on to to a couple of things about meetings the third Elsie Congress the was held in April the others were held in 2001 and 2008 this meeting brought together over 350 researchers trainees and policymakers involved in Elsie research participants came from a wide array of biological biomedical behavioral social science and humanities disciplines as well as many different geographical areas and racial and ethnic groups it was really a large and diverse meeting especially with respect to the various presentations the various formats for the presentations it included plenary talks by a number of us including myself and two members of council David and Pearl it also included a number of panels and individual papers focus workshops and and number of posters the research themes included studies and the impact of genomic data sharing policies returning research and clinical results for genome sequencing and the use of behavioral genetics and non-medical settings issues of health equity the use of race and genomic research in medicine intellectual property issues and the implications of the emerging fields of microbiome research and epigenomics in addition to the issues addressed the congress was particularly notable for the number and quality of the trainees many of whom came from biological or biomedical disciplines and were receiving cross-training in Elsie research the trainees were also quite diverse and included many individuals from underrepresented populations and I saw flurries of emails after this meeting all very very positive and I was there and it was it was very vibrant and it's terrific meeting to be at some of us just got back in fact the number of council members just got back from the Coltspring Harbor meeting last week it was huge meeting just I don't know how many more people they can pack in at Coltspring Harbor great science as usual continuing to see a shift I heard Rick Wilson when he came in and sort of I heard him say sort of continue shift in sort of the emphasis which I think is appropriate and sort of evolving with the times but I also sort of goes back and forth from year to year I noticed but which is fine and as I should think it should be it's but it's still it's still a terrific meeting I guess Polar is not here but it's a panel discussion that she led on an LC panel that was actually quite interesting as well I wanted to tell you about and maybe we've mentioned this this newly launched monthly feature on our website genome.gov so I called the genomic our genome advance of the month so each month now we have a way of having individuals nominate what they think the most significant genomic advance or genomic paper coming out in the past month and so far from the previous month actually so in January we featured Ron DePino's work on telomerase reactivation how it reverses tissue degeneration aged telomerase deficient mice in February we featured Bill Gaul and collaborator describing one of the cases from the undiagnosed diseases program that was published in the Newland Journal that talked about a very interesting mutation associated with arterial classification Gala Todd Gala and Gatti Getz were featured in their paper that came out about sequence analysis of genomes in multiple myeloma and then most recently Steve Quake and colleague we featured this paper talking about non-invasive universal non-invasive detection of solid organ transplant rejection so in case we we just sort of throw this up once a month and it's sort of fun to consider and we also have some runner-up it is remarkable how much great stuff comes out every month but we also are always welcome for nominations from the floor so if you see a paper that you think just just knocks your socks off in the field of genome send any of us an email and we we take nominations and and I just think it's it'll be fun to look back at that when the year is over sort of look at what we think are the top 12 genomic stories that came out from the year and then another very late breaking development from last week that I wanted to share with you was this report they came out from a study by the Battelle Memorial Institute about the economic impact of the human genome project I don't know if you know about this or not but I mean it's it's here's a report here it's fully downloadable and it's what is it 72 page really detailed no 58 page highly detailed report if you haven't you haven't looked at this yet and if you are busy meetings last week or whatever you may want to just get this and it's really it's a pretty I haven't even read the whole thing I haven't a time but I've read parts of it it's actually quite interesting the goal of this study was to fill a gap in the literature regarding the human genome project by assessing its economic and functional impacts and let me just share with you some of the key findings because I think it is interesting and I think it's also the kind of thing that's very important for us to be aware of especially when making arguments about why NIH funding is so important even in the face of tough economic times so what this study found was that between 1988 and 2010 the federal government invested $5.6 billion adjusted for to make it $2010 equivalent in the human genome project and according to this study generated for the American economy and you could read the numbers almost $800 billion in economic output almost a quarter of billion dollars in personal incomes 3.8 million job years of employment and overall assess that return on investment was 141 to 1 in other words for every dollar invested in the genome project it got an economic benefit of $141 in return and they also gave it just if you looked at 2010 alone genomics relagic projects produced you could read you know $67 billion in economic output $20 billion in personal income over you know 310,000 jobs for the U.S. economy almost $4 billion in federal taxes and 2.3 billion dollars in U.S. state and local taxes so it was a lot written about this I don't know if any of you saw it and you know some folks are analyze these numbers and said they're you know they're a little bit off on this they're a little off on this and I wouldn't get too hung up on the specifics but I just think even with the general order of magnitude it's pretty darn impressive and I I will tell you that at the NIH level that this is you know more and more this is the kind of arguments we're trying to build that if even if you don't like our science just take it from an economic development point of view how valuable this is just if you wanted to use some of these as quotes straight out of the report they said the human genome project is arguably the single most influential investment to have made in modern science and a foundation for progress in the biological sciences moving forward they go on to say that the impacts the human genome sequencing are just beginning large-scale benefits in human biology agriculture energy and the environment are still in their early stages the best is truly yet to come so again it's just nice accolades about the genome project on the field of genomics and their good numbers to have at the tip of your tongue I will also point out I didn't have time to add this to my director's report because I just learned about this but another similar study not about genomics but about biomedical research in general just came out last week I think it was last week came on the same call the united for medical research and they have a much shorter report that gives a bunch of numbers it's called an economic engine NIH research employment and the future of the medical innovation sector so again I have a copy if anyone wants to or you could I'm sure this is finding through Google I'm sure you could find this but it gives numbers again on how the economy is stimulated based on NIH research I just want to stress that this is the kinds of things that Francis I know for one and people in building one are really trying to get their hands around are there good hard numbers to really illustrate the economic benefits of biomedical research that's a kind of argument that might ring better than just we need it because healthcare research is so important yeah is there a sponsor for this study or was this unsolicited so there was a sponsor in that that life technologies funded the study to be done but it was done by the Patel Medical Institute and there's quotes from the head of life technologies in the press last we just talked about how again not on behalf of life technologies on behalf of genomics we she wanted to see what these numbers look like because he thought they would drive the field further by showing the economic benefits that are derived okay so let me now move to our extramural program and start with always some highlights from our large-scale sequencing program this highlight comes from washington university published a draft sequence of of trigonalis spiralis spiralis a food born parasitic roundworm that is most common cause of human trigonalis trigonalosis infection caused by eating contaminated meat this was reported in the march issue of nature of genetics other highlights from large-scale sequencing program of course should include the cancer genome atlas which continues to make great strides towards its ambitious goals as illustrated by the recent meeting I can tell you that post pilot production heading towards the error goal of 3,000 tumor normal pairs or 22 different tumor projects are as progressing well the goal of course would be to complete all this by September of this year shown here is the graph that is frequently shown that that indicates progress the you haven't not familiar with this the blue line shows the samples qualified and shipped to the centers for analysis the red line shows data availability and the and the the orange line is the sort of the goal and the red line is just a little behind the goal because of challenges in data management due to scope and scale the sequence data sets but is catching up and the optimism it will catch up so the error goal will be reached it's important to stress that TCGA conducts comprehensive analysis on each tumor type and sample including exomer whole genome sequencing studies of copy number variation methylation analysis and mRNA and micro RNA expression I will also tell you that the ovarian cancer manuscript is now in press at nature I don't know I don't think we yet have a publication date but it's going to be soon that is the largest cancer genome project to date with full integrative analysis of 316 cases including whole exome sequence data sets being generated and major projects are now underway for five tumor types with the types and case numbers indicated on this slide sort of the next ones on the hip parade for TCGA thousand again large-scale sequencing program thousand genomes project continues to make major progress towards reaching its goals they held a highly productive meeting last week prior to the Coltspring Harbor Genome meeting I actually attended the last couple hours of that meeting and also talked with a number of the key leaders in thousand genomes and also the advisors and to get a strong confirmation that indeed the project is very nicely on track thought I would share some statistics with you that were provided to me in terms of data sets low coverage sequence data is now available 1150 samples initial variant calls have been conducted on just shy of 1100 of these samples exome sequence data now in a thousand samples initial variant calls on approaching 500 samples Omni 2.5 million SNP genotype data now available on 1500 samples including trio children in terms of variants about 39 million SNPs 100,000 indels 84,000 structural variants identified so far the project is finding 95% of SNPs at 2% frequency by analyzing that first set of 1094 samples this is slightly short of its goal but expects to find 90% of SNPs at 1% frequency by analyzing the full complement of 2500 samples so that goal will hopefully eventually be reached by analyzing the larger set the haplotypes are accurate enough for imputation and disease studies and the DCC is a new browser which actually I heard I heard several people talk about allowing users to get a slice of the data such as a genomic such as individual genomic regions of interest oops I'm sorry I wasn't advancing when I showed up which would have those the last two things I just told you and then in terms of the project timeline phase one 1150 samples currently sequenced a manuscript expected by the end of 2011 on the dataset integrating all variant types phase two which will be another 571 samples will be in by May at 2011 sequenced by the fall of 2011 and phase three which will wrap up the project last set of 779 samples in by March of 2012 sequenced by the fall of 2012 the idea is that thousand genomes project will then end toward the end of 2012 so this is sort of the the finale aspects of this project as planned okay moving beyond our large-scale sequencing program just give you a quick update in our DNA sequencing technology program in April more than 175 grantees and their collaborators postdocs and students gathered in San Diego and participate in a three and a half day meeting to discuss latest advances in DNA sequencing technology development with 40 talks and 60 posters the sequencing technology related era grantees joined our $100,000 genome and $1,000 genome sequencing RFA grantees and during the last day of the meeting welcomed another 35 scientists from companies and other universities who are not supported by NHGRI's technology development program for quote unquote a public meeting one of many meeting highlights was presentation of a sophisticated user perspective from one of NHGRI's large sequencing centers in which technology developers heard firsthand how effective partnerships between technology developers and technology users can enhance the usability of the new platforms finally progress on physical methods for sequencing a particular nanopore sequencing has accelerated substantially over the past 18 months to the point that there's increasing confidence that this method will produce sequence reads over the next year going on to individual projects encode and mod encode each of those consortia are working on integrative analysis papers encode is focusing on initial analysis of their data and mod encode is focused on a comparison of the fly and the worm data is going to be a joint encode and mod encode consortia meeting later in May and I'm not going to tell you much more than that because Elise and Peter are going to make a presentation about encode later in the open session I had I will also tell you that encode and mod encode have had a number of wonderful papers that have come out since last council meeting I was I have this slide here to congratulate Rick Myers but he's not here so he won't hear me but all of you can tell him that I said nice things about him in that the user's guide for encode came out very recently in post biology and I was going to just congratulate Rick because this was one of these you know hurting a thousand cats kind of a paper I saw gazillion emails about this and it was hard to get this one across the finish line and it was Rick's leadership that was instrumental and seeing it all the way through to come out so Rick deserves a pat on the back for making sure that this very important paper got published okay that's our extramural program but of course our extramural staff works incredibly hard not because they run programs that are funded by NHGRI but because we disproportionately volunteer or get volunteer to run common fund projects on behalf of all of NIH because we're good at it and so let me tell you about common fund projects that we are heavily responsible for and we will start with human microbiome project we can anticipate a surge in publications in Mike and from the human microbiome project the main paper describing global analysis of the primary healthy cohort will hopefully be submitted in the not too distant future and then there's also plans for greater than 20 companion papers coming out of the project that will be submitted to other journals as well there was a pre-publication release of value added data sets from the healthy cohort study the group put a large amount of work into generating these value added data sets and agreed to release them before publication this includes metagenomic whole genome shotgun assemblies and metagenomic 16S derivative data sets it's also been a flurry of meetings on microbiome there was the international human microbiome congress in vancouver about 500 people attended from 20 countries demonstrating the growth of this community of researchers there's also a fairly recent brainstorming meeting discussions with 20 external experts of a possible future initiative with the focus on clinical application outcomes claire was one member of council another member of council also participated and then there also will be a session at the america study of microbiology meeting a major presentation by two human microbiome project researchers and you're going to get a more complete update about microbiome research in general by lita later in the open session a newer common fund project a genotype tissue expression or g-tex is now up and running there's one lab coordinating center and broad institute and three biospecimen source sites national disease research interchange roswell park cancer center and science care in phoenix there's initial collections that are will be taken place in april of may of this year for post mortem donors collected and analyzed six more by the end of may and the early molecular data is encouraging there's also and so the first data really being generated from this project and so it's timely that there's an upcoming meeting that'll be take place in june that will involve p.i.'s external scientific external scientific panel the ro1 grantees and also the genome browser groups that'll be responsible for putting this data up and there's also a development of a donor brochure and website to help facilitate interactions with prospective donors for this project moving on in march the library of integrated network-based cellular signatures more easily referred to as links that project held a meeting with u54 grantees and a newly appointed external scientific panel at the brode institute the meeting was a success and the program is moving forward with developing metrics for phase one and phase two of the links project in october the program will hold a fall consortium meeting with members of the production centers as well as supplement and technology development awardees in the dc area there are three ro1 administrative supplements that have been awarded to develop collaborations among the u54 production among the u54 production centers awardees will develop and analyze cell lines and perturbogens used through the links production pipeline in addition the links program is planning to hold reviews in the upcoming summer for the uo1 applications and computational tool and advanced technology development eight applications were received for the production rfa and are expected to fund two of them we also expect to fund three to five technology development awards out of 25 applications received and finally the u54 production groups published a paper in the may issue of nature methods detailing the techniques used to organize microarray data for the links project data analysis protein capture reagents program applications have been received for the production and technology development components of the protein capture reagents program reviews of applications will occur this summer with final approval during the fall council meeting final look for and our council will perform the council review for protein capture u54 production rfa and funding plan so that'll take place in the fall the next common fund projects one that has taken quite a bit of time from by many of us including myself is human heredity and health in Africa our history Africa as a reminder this is a population-based genomics project that aims to use modern genomics and genetic approaches to study diseases that are relevant to African people but importantly to have the work performed by African scientists in Africa part of a global outreach efforts that the NIH common fund wishes to pursue and so there's been significant developments with h3africa including a key meeting in Cape Town in March that a number of us attended that including Francis Collins went to this and Mark Geir Jane Peterson and myself and others that the goal of this was to finalize a white paper that's shown on the right of this slide that was prepared by two working groups of predominantly African scientists of what this h3africa initiative might look like by the way as a reminder it's not just an NIH project h3africa was organized by the jointly by the welcome trust and the NIH in conjunction with the African Society of Human Genetics Meeting and the African Society of Human Genetics and also aims to bring under the tent additional funding agencies from other countries and perhaps even companies so the goal is to make this a international consortium of that would all help to coordinate this project the photo is from this h3africa meeting you can see besides myself Mark Walpart from the welcome trust Francis and others who are involved in this so that was sort of the culmination of a planning process that we empowered these working groups to pursue on our behalf and then welcome trust went back and we went back to sort of figure out right with this plan in mind how we actually going to fund this and what specific things are each agency going to do and it's tough time in terms of trying to get a sufficient funds to really have the kind of project we would like to see happen I will remind you there's base support of five million dollars per year from the common fund that is committed and our real aim would be to use all of all of those funds for infrastructure and then have individual institutes participate by doing disease specific projects that they would fund and so what we've attempted to do was to raise additional commitments of funding from individual ICs to to augment the five million dollars per year of common fund money but it's it's it's a lot of effort at a time when it's really hard to raise money from institutes I made a presentation to the institute directors back in April and we have now released notices of NIH's intention to release an FOA to solicit applications particularly the initial emphasis for infrastructure in the area of bioinformatics network we wish to create and also for for a bio repository and we will collect data from potential applicants to figure out how exactly to frame our FOA and the and coming up next month we have to present the plan for this to what's called the council of councils for concept clearance for this new common fund initiative again HREF is just getting off the ground and then the idea is to publish the first set of FOAs in July of all this goes well I just will tell you as an uncertain outcome exactly what this is going to look like again because of the need to raise funds if we don't raise sufficient funds it means we have to take more of the five million dollars of common fund money and use those for actual individual projects so it's just that right balance of distribution of money between infrastructure and the science I will tell you NHGRI is committed to put in upwards of two million dollars of our own funds into this project because we think it's so important and but we just need we are hopefully gonna we just need more money from institutes otherwise we're gonna have to use some of our money and some of the common fund money to likely fund some of the science that will go on in addition of the infrastructure so more on that I'm sure guaranteed the next council meeting will be able to update you in terms of possible new common fund initiatives a couple of things have been brewing behind the scenes single cell analysis was one of a list of emerging opportunities for trans NIH initiatives proposed at the big think meeting that was held about a year ago Francis Collins had this meeting as a means to try to get representation across the NIH and maybe it wasn't for some reason oh no that's right across the NIH to sort of think broadly and come up with new ideas for new common fund projects and so a committee with representation across all the institute was convened in December as a follow-up to that to look into possible initiatives in single cell biology that has resulted in an RFI going out in February of this year published in NIH Guide and that elicited 75 responses and staff is now performing a landscape analysis of existing NIH funding and invited visionary experts to engage in a structured discussion at a workshop cover which is shown here that took place in April on a range of opportunities and challenges both biomedical and technical and the experts included an NHGRI intramural investigator in several NHGRI grantees including one council member although they didn't tell me which council member it was so I don't even know which of you participated in this nobody's raising their hands so I don't know who that was among the various challenges of the analysis of large numbers of single cells in situ for example within tissue where the goal would be to collect and analyze molecular and physiological phenotype data dynamically and comprehensively and the next step is to sort through the discussion points and constructive set of goals and milestones for trans-NIH initiatives substantially advance the field and submit this in May as a proposal of a common fund leadership so this might be a new common fund effort Jeff was at DD Meldrum so yeah I just suddenly realized that DD's not here so DD Meldrum was the council member who participated in this workshop so stay tuned you might see this be a new common fund effort and then speaking of other possible new common fund initiatives the common fund and NIH leadership continue to test new ways to identify compelling opportunities that would benefit from common fund support and their most recent experiment was a meeting that was held earlier this month entitled innovation brainstorm transforming discovery into impact and the goal of the meeting was to identify areas of emerging scientific opportunities in which strategic investment by the common fund would accelerate progress but the way they did it was a little different they invited institute and center directors to nominate very junior investigators to participate in this meeting so attendees that were familiar to NHGRI although these are not all people that I nominated in fact so but it was other institutes nominated individuals that we count as our own because we're generous people but Gonzalo Abacasis Brad Bernstein Manolis Kellis and Brad Mallon were the four individuals that participated in this that are genomics oriented folks and prior to the meeting each attendee nominated a publication that they thought had the potential for high impact on a broad spectrum of health research and described how NIH could reduce the time needed for this impact to be realized and then posted the comments to each other on through websites and communicated went back and forth and based on the nominated papers and comments common fund staff set up eight discussion sessions which included things like beyond GWAS again very relevant to us microbiome proteomics therapeutic developments single cell analysis so again some of the same themes sort of coming along and this meeting just in place a couple of weeks ago I'm sure it'll be follow-up again just a different approach to try to troll for new possible ways to mobilize common fund resources to new areas okay two more categories but they're not very lengthy so we're getting there NHGRI officer the director and we should start with our office of population genomics which lives within the office of the director and tell you a little about update about the electronic medical records and genomics or a merge network that continue to demonstrate the value of deriving phenotypes defined by electronic medical records and capitalize on the emerge funded genotyping to study EMR defined phenotypes couple of very nice publications came out of that network this is one from the Mayo group publish this where they report replicating the association of several snips with red blood cell phenotypes collected from traditional epidemiological studies and then the Vanderbilt group published this paper and replicated associations with PR interval duration and the gene SCN10A so two good papers from from the emerge network also out of the office the director I should tell you remind you that the England journal has a genomic medicine series that's edited by Greg Firo of NHGRI and also Allen Gutmacher previously at NHGRI this series will have 14 articles total and to date seven have been published in January was this article that talked about genomics and the continuum of cancer care and using modern genomic approaches for advancing care of cancer patients in various ways and then in March this article came out which included both a current council member and a former council member Howard and also Richard talking about genomics and drug response and various important aspects related to pharmacogenomics and understanding how that might be applicable to the development of new therapeutic agents and so forth so again pointing to that series also out of the office of director G2C2 as our genetics genomics competency center for education program a web based repository of educational resources on genetics and genomics in February we debuted a new look for this website shown here site modifications were made in response to evaluations by health care providers to assure easier access and sharing of resources genetic counselors will be adding their resources to the site this summer and a meeting with pharmacists will occur and follow of this year to update their discipline specific competencies identify resources and explore the possible use of that community for G2C2 and there's also a manuscript entitled that has been accepted for publication of the journal and nursing scholarship that describes this resource Michael Rocky Rockover who's a contract employee with NHGRI's office of policy communication education and also on faculty of Philadelphia university will receive the 2011 Paragon outstanding physician assistant of the year award for outstanding service from the American Academy of physician assistants at its annual conference in May and relevant to the previous discussion Rocky is receiving this award for his efforts to introduce genetic literacy to physician assistant education beginning in 2001 and until recently was also on the board of directors for the national coalition of health professional education and genetics I hope all of you celebrated national DNA day 2011 NHGRI celebrated on April 15th where we had our annual DNA chat room from 8 a.m. until 6 p.m. where we had 45 experts answering questions remotely or on site in total we answered about 800 questions and although the chat room was open to the public questions from schools who registered were given preferred treatment about 10 such schools from 10 such states were those schools that we registered in advance and attempted to answer their questions as aggressively as we could in a parallel effort for DNA day our DNA day ambassadors program has partnered with the NIH office of science education speakers bureau to help connect teachers and speakers ambassadors created profiles on the speakers bureau's website that could be accessed by the public those looking for speakers can choose from several DNA day ambassadors with specific expertise and it's estimated that DNA day ambassadors will visit or interact with about 10 schools during the months of March April and May and then in another outreach effort NHGRI hosted 200 students and parents from the Johns Hopkins Center for Talented Youth in April Jim Mulligan and Lita Proctor provided morning and afternoon keynote addresses on sequencing the androgynome and the human microbiome respectively students did hands-on activity related to forensics immunology and microbiology and meanwhile parents who accompanied them got a tour of the National Library of Medicine and also learned about genetic counseling and last but by no means least our intramural program I would start off by pointing out one recruitment that's now active we've launched a search to identify the new director of the NIH intramural sequencing center or NISC you recall that I stepped down from being the director of NISC when I became director in December 2009 and Jim Mulligan has been acting director ever since but we decided Dan Castor in particular our new scientific director wants a permanent director identified and so has launched this search and the closing day was yesterday for applications with the hope of identifying the next director in the next few months so hopefully I'll have more to say about this recruitment at the next council meeting in terms of other developments more highlights from the undiagnosed diseases program and Bill Gall that I wanted to share with you Bill Gall is our clinical director founding director of the NIH undiagnosed diseases program one of these highlights is a talk a TEDx talk if you don't know about this it was launched in 1984 TEDx talks bring together people from the world of technology entertainment and design and it's considered to be a great honor to be invited to give one of these talks which is actually broadcast and widely watched and you could access it anytime so he gave a TEDx talk in April focusing on its efforts with the undiagnosed diseases program but also on the obstacles faced by patients with rare diseases seeking treatments including regulatory impediments and possible solutions Bill and the UDP have been collecting awards I will tell you so for example most recently he was named the finalist of the science and environmental category for the 2011 Samuel Hyman service to America award from the partnership for public service there was a breakfast in his honor and all the other finalists that I attended just a couple weeks ago down on Capitol Hill and the actual winners of this award are going to be the final winners of each category are going to be announced in September and then the entire program as a group won an award for team science award by the Society for Clinical and Translational Science this inaugural award was presented after a national selection process and so again I just think all these accolades that continue to come in really really reflect the success of the undiagnosed diseases program and Bill Gaul's terrific leadership of it and I also didn't add this because I just saw this over the weekend so it's not added in director's report but in the May 10th or no the May 11th issue of JAMA is an article on the undiagnosed diseases program lessons learned that Bill Gaul and Cynthia Tift who is our deputy clinical director and also runs the pediatric part of the undiagnosed disease program they wrote so it's just a little quick little two-page article if you're interested I would send you to the May 11th issue of JAMA and lastly lots of but by no means least again our whole intramural program continues to be highly productive numerous publications over the last four months let me just highlight three of them this is Dan Kastner our new scientific director since October his group reported in PNAS the new the actual genetic cause and new treatment for a genetic form of recurrent fever in children this disorder represents the most common periodic fever in children and they reported how an interleukin-1 antagonist actually results in rapid relief of symptoms your Dennis Samuels one of our tenure-track investigators and our cancer genetics branch reported in nature genetics results of whole exome sequencing of melanoma identifying the grin-two-way gene as the most highly mutated gene in the melanoma samples that she analyzed and Colin McBride who was the chief of our social behavior research branch published in the journal pediatrics the results of studying parents' attitudes toward pediatric genetic testing for common disease risk they found that parents believed that the benefits outweigh the risks of these tests and she describes in this paper shown here and those were all the highlights I wanted to mention from our intramural program I will just close by once again thanking Quist-Redistran I don't get 86 slides put together if I don't have someone helping do it and getting lots of people dozens of people are involved in preparing this director's report and Chris coordinates it and does a lot of hard work to get all this together in time and so thank you Chris I should also thank Larry Thompson and Judy White and the whole web team for putting this electronic supplement together and realize it all gets together like the last three days because everything comes in the last few minutes so with that I will close and certainly happy to take any questions on anything I've discussed questions, comments? Yeah, David I had two questions let me see if I can remember them one was when the NHGRI activities that are going to be transferred to NCAPS yeah when those activities are transferred will their budgets go with them or will that free up money for NHGRI? I'm sorry it's so obvious to me I should have just said it but is that you have to realize that those green entities that were listed except for in-kind personnel support that any of our administrative staff or myself or any like except for that it's all budget neutral for the most part to NHGRI so our budget will not go down by a penny because none of our budget goes to those green things they all come with their own transfers of money from the common fund from the various individual ways or not NHGRI assigned dollars will essentially be budget neutral essentially and the second question is you showed us the various slices of the pie for budgetary issues and of course NHGRI has a fairly large intramural program yes and you said when the cuts this year will be applied to the extramural program if we continue to have hard time so are you going to reevaluate the intramural funding? yeah let's be clear it all it all depends on timing so if intramural is not immune to cuts and that's true of our institutes true of every other institute but what we can do halfway through a fiscal year is very different than what you can do at the beginning of a fiscal year if we know at the beginning of the fiscal year we're going to be cut by a certain percent I can guarantee you we like every other institute are going to have to cut our intramural program whether it's exactly the same amount or not has to be analyzed because we have you know 500 and something people in the intramural program many of which are civil servants and you can't you know you got to pay salaries first you got to sort of see what's left so whether it be proportionals completely depends on how deep those cuts are the intramural program I have to admit I feel Dan Caster inherited a tough situation even this year from the point of view of even though they weren't cut after April they made substantial cuts just because the lack of increases for so long I mean they are cutting like mad in order just in order to stay afloat so but there's no question that at the beginning of fiscal year we know or shortly in a fiscal year we know there's going to be cuts across NIH I mean intramural is going to have to absorb some of that both at our institute and others Eric you just want to mention the higher proportion of salary costs is the basis for the differential problem yeah I sort of say yeah the civil service I mean right I mean just huge salary I mean it's a big big salary burden and you just can't shift people quickly enough I mean so that's the that's the challenge I mean it's it's really is the challenge so just to follow on that if past history is any indication we're not likely to know by early in the budget year it's you know less this year is very unusual so probably is worth some deep thought I guess oh I can I can guarantee you that our intramural program and virtually every other intramural program are not making assumptions that they're going to see the president's budget or you know I mean so I mean I think as time gets closer we at the we will have to be having some significant internal discussions about what's the scenario they should be planning for should it be flat should it be you know minus two minus five I mean those are huge differences especially for and by the way it's by the way the the hardship I mean one of its intramural I mean the other hardship for us is is just the rest of the research management arm of the institute the office director I mean you know we there's just not plentiful amounts of money as it is and it's it's very personnel driven lots of issues there if we were gonna if we were gonna face a five percent cut when you go to part of the organization that's predominantly personnel you know that's and by the way all of us are going in with the assumption that salaries are flat because the president's already told us that federal salaries are frozen for two years so I mean you know we won't even think about too much about that because we already know those are going to be so it's it's really quite challenging and the and the other thing of course is that this does not go on in ice I mean we have to analyze keep in mind and maybe I implied it there's some aspects of this that they will try to have done fairly consistently across the different institutes but that can only go so far because we're different and so we will have to sort of walk that that that game of just making sure in some ways we do it consistently but then we have to you have to look out for ourselves and our own unique composition of where the dollars go and in in a worse or at least a bad case scenario which is probably the likely scenario is there a venue or a way to make sure that the story gets out about where the cuts are happening and what the consequences of that are for healthcare for innovation for competitiveness I mean those seem to me strong arguments need to be made sure you're working on that but if anybody else wants to step up to a mic who wants to go deeper I you don't have to but I'm just from I'm thinking of anybody else at the institute but one of the things I can tell you is that we submit we are asked to formally submit what are the consequences of different scenarios so you know what what what will your institute do next year if you're flat what do your institute do next year if you're five percent down what do you do that you know the good days they say what will you do with ten percent increase you know those are fun days but you know now it's very much so we we we tell it like well we tell it like it is I mean you know two percent cut these the devastating consequences of a five percent cut these and and we package it as because we know who might be reading it and it might be the people that have to make these decisions so you know we we tell them about the the the number of nicolesses from Milwaukee that won't be able to be studied because of that that kind of thing absolutely and and this all then filters up to building one and then they synthesize the best stories and then package them for their foray into to negotiations Laura or requested for 2002 for NHGRI it was a little bit over four hundred and twenty eight million at that point and for NIH as a whole it was a little bit over twenty three billion from there sir Gardner what was it Laura four hundred and twenty three right that what you said four hundred and twenty eight four twenty eight and now we're at about five thirty right so I mean this is horrific I mean just can't even imagine what we would do a hundred million dollar deficits I just can't even imagine and just to put that in perspective I heard a talk from Larry Tabak who said that in terms of buying power we're already at the 2002 numbers I just can't imagine what buying power means if you take that kind of a hit any other general questions at this stage sure we're going to drill into some of these with subsequent presentations we're going to take a break there coffee break all right so we will break and we will reconvene in 15 minutes so about 23 after we'll go we'll take all the way to 25 after 10 25 we'll reconvene thank you all