 Okay. Well, thank you, Rudy. And let me just jump right in. I'll start by reminding you as Rudy did that the open session of our council meetings are being webcast live. And in addition and what is now our routine, the open session of all council meetings are being videotaped and made available as an archive on the web. That includes both the presentations themselves as well as all the various associated documents. And for anyone new to our council meetings, I want to make you aware there's an electronic resource associated with my director's report that many people help put together. It's sort of analogous to a supplemental materials that are often associated with published papers and can be accessed at this convenient URL shown on the slide. And the slides that I'm showing during my director's report are available electronically at this site, both as a PDF file and also as the native PowerPoint file. And many of the slides are associated with specific documents or relevant websites that we want to point you towards. It's indicated as a document number on the bottom right and then references material that you can then access at the website given here on the slide. In addition to the video archive that I mentioned earlier, this web page and all the link documents that are archived on NHGRI's website, genome.gov, are done so as a permanent historic resource for future use. Now there are multiple other presentations during my during the open session of this council meeting. My director's report is thus tailored around these presentations. So I'll not discuss in any detail the topics that others will be covering. When I'm done with director's report, for starters, we'll have a presentation by Dr. Gary Gibbons, the new and recently arrived director of the National Heart, Lung and Blood Institute. We'll then have three project updates from NHGRI staff members. Brad Ozenberger is going to talk about the cancer genome atlas. Simone Evolpi is going to talk about the Genotype Tissue Expression G-TEX project. And Jane Peterson is going to talk about human heredity and health in Africa project, H3Africa. NHGRI's, wrongly, will then present the biennial report on the inclusion of women and minorities in NHGRI-supported research. And we'll then have a major update about our Centers of Excellence in Genomic Science, or SEGS program, specifically hearing from Jeff Schloss of NHGRI, followed by presentation from two SEGS grantees, who happen to be council members as well, David Kingsley and Dee Dee Meldrum. And the last topic in the open session is the annual review of the statement of understanding between the council and NHGRI, which we presented by Rudy Pazzotti. So for the rest of my director's report, I will cover the seven areas listed here. Together, we have found that this provides a very nice framework for reviewing the relevant topics. And let me start with some just general NHGRI updates. Well, this council meeting marks the first since we implemented the new substantive reorganization of NHGRI. In fact, it's really the most significant reorganization of the Institute since the beginning of our enterprise. Implementation of this new organizational structure, which council has been hearing about for the better part of a year, and which mostly affects our extramural research program, actually took place on October 1 of 2012 at the beginning of the current fiscal year. And shown here is a slide you've seen before showing the Institute's new seven division structure. In particular, note that four new divisions constituting the extramural research program. Significant amount of hard work went into many nuances involved in changing our organizational structure, but I can report that overall the transition has been a very smooth one. Let me just pause for a minute and offer my sincere thanks and appreciation to the entire staff of NHGRI's extramural research program, in particular for enduring some fairly significant changes to their part of the Institute. I also want to thank our outstanding administrative staff who did a tremendous amount of behind the scenes work to make such a major reorganization possible. And lastly, congratulations to our new leadership team, who are now in their new positions as division directors and division deputy directors. In fact, you'll be hearing from most of these individuals during this council meeting. Finally, I want announcement that I want to make, and that is a recall that I appointed permanent directors for all these divisions, except for the division of genomics and society. And on an interim basis, NHGRI deputy director, Mark Geier, is serving as the acting director of that division, but I'm now ready to move forward and in identifying a permanent director for the division of genomics and society. And as a result, in the next few weeks, I will launch a search to identify this division director. And once a few more details are worked out, you can expect to receive an email from me and to see advertisements with information about this important recruitment. Another area of NHGRI updates relates to the year 2013, which will be a spectacular and celebratory year for both the institute and for the field of genomics. Recall that 2013 will mark the 60th anniversary of the famous publication of Watson and Crick reporting the double helical structure of DNA. And even closer to our own hearts, 2013 will mark the 10th anniversary of the completion of the Human Genome Project. As you might expect, NHGRI has been particularly focused on appropriately commemorating the Human Genome Project's 10th anniversary. So we briefly update you about several major components of our year-long celebration. For starters, NHGRI will be hosting two sets of talks at NIH in the coming months to celebrate the Human Genome Project's 10th anniversary. The first of these will be given by three pairs of speakers listed on the left side of this poster. Specifically, there will be paired presentations by Bob Waterston and John Sulston on Thursday of this week, Zach Kohane and George Church in March, and Carol Lerman and Alexandra Shields in May. Then on April 25th, which is DNA Day 2013, NHGRI will hold a day-long special symposium with participating speakers listed on the right side of this poster. As you might imagine, we've lined up a real all-star cast for this symposium, including council members David Kingsley and David Williams, as well as speakers such as Sarah Tishkoff, Claire Frazier, Jeff Botkin, Kevin Davies, Nancy Cox, Ewan Burney, Levi Garroway, Dan Rodin, David Botstein, and someone named Francis Collins. So you can expect to see a remarkable symposium on that day, and that day rest assured that even if you can't come to Bethesda for any of these paired seminars or for the April 25th symposium, you'll be able to watch all of these presentations after the fact by a video archive that were created that will be available on genome.gov via our Genome TV channel of YouTube. And actually shown here is the dedicated webpage with an easy-to-remember URL, genome.gov, backslash, HGP10, that has all the links to the various 2013 celebratory events, including videos of all these presentations once they're available. Now, of course, the centerpiece element of our year-long 2013 celebration will be the opening of a genome exhibition at the Smithsonian Natural Museum of Natural History. By way of reminder, we announced at the May Council meeting the establishment of a new collaboration with the Smithsonian to develop a traveling exhibition on genomics. Our partnership with the Smithsonian has been fabulously productive, and staff members from both institutions have been feverishly working together on what is a very tight timeline. I can report that we are currently at the 95 percent design phase. I literally have the 95 percent prints and information on my desk. I'm reviewing it actively, and we are just a few weeks away from the initial start of fabrication. After many months of discussion, we have decided on the title for the exhibition, and I'm pleased to announce that the Genome Unlocking Life's Code exhibition will officially open on June 14th of this year. While it is resident at the Smithsonian Natural Museum of Natural History for roughly one year, the exhibition will be located in Hall 23, immediately adjacent to the hall that contains the Hope Diamond. Starting in late 2014, the exhibition will travel around North America for four to five years. The organization responsible for traveling the exhibition is in the process of contacting potential hosting museums and science centers, and the NHGRI Education and Community Evolvent Branch is busily planning local and national programming associated with the exhibition, both for when it's here in the D.C. area and then elsewhere when the exhibition tours. Some of you might have seen the nice shout-out that Nature Magazine provided about the Human Genome Exhibition in their first issue in 2013, listing it as one of the hot tickets for 2013 in science and art. Thank you very much, Nature. And finally, I'm happy to report that we have arranged for the second day of our September Council meeting to be held at the Smithsonian Natural Museum and Natural History itself, so as to provide all of you a chance to see the exhibition. So more details to follow about the September Council meeting. My discussion about the significance of the year 2013 as a good segue into the last NHGRI update, one related to our historical archiving efforts. Over the past few years, I've come to realize how many materials NHGRI has that are of historical significance, and yet these various documents and slides and photographs and videos and other materials related to the Human Genome Project, as well as those related to every other major initiative that we have been involved with from the HapMap project to ENCODE, to 1000 Genomes, and so forth, is incredibly valuable for the history of science. Well, needless to say, I've also come to realize that we need to get better organized at archiving these precious resources in a more professional way for science historians to be able to access and utilize them in the future. So towards that end, we have now hired a professional archivist and historian, Chris Donahue. Rudy introduced you a few minutes ago, and Chris is working to develop an overall historical archiving plan for NHGRI. Eventually, we aim to make these materials publicly available. Meanwhile, I can tell you there's an increasing interest in better documenting the history of the Human Genome Project, in particular, and we're in discussions with other organizations that are very interested in moving that historical compiling of information forward, in particular Cold Spring Harbor Laboratory and the Wellcome Trust. And so we've been interacting with them, and I suspect they'll have more to say about various collaborative efforts about Human Genome Project history capturing at future council meetings. So let me move on to some general NIH updates. Well, shortly after the last council meeting, Chris Austin, someone very familiar to NHGRI, was named the new director of the National Center for Advancing Translational Sciences, or NCATS. Chris came to NIH for Merck. He founded and then directed the NIH Chemical Genomics Center, and then later the NIH Therapeutics of Rare and Neglected Diseases or Trend Program, and was later appointed the scientific director of the NIH Center for Translational Therapeutics, residing initially, all of that residing initially with an NHGRI, and then later got moved to NCATS. Well, congratulations to our good friend and colleague, Chris Austin, for this new appointment as director of NCATS. Richard Nakamura was recently appointed the new director of the Center for Scientific Review, CSR. Richard had been serving as the acting director of CSR since September of 2011. Prior to that, Richard had a distinguished 32-year career at the National Institute of Mental Health, NIMH, where he served as its deputy director and later as its scientific director. Well, after considerable study and discussion, NIH has decided not to merge the National Institute on Drug Abuse NIDA and the National Institute on Alcohol Abuse and Alcoholism, NIAAA. Instead of a structural reorganization, NIH will pursue functional integration of relevant programs from each institute. In doing so, NIDA and NIAAA will retain their institutional identities, while strengthening their ongoing efforts to work more closely with each other and with other institutes and centers working in the areas of addiction, substance use and abuse, and related topics. Last September, NIH joined faster cures in hosting a three-day celebration of science in the D.C. area. The events on one of those days were actually held on the NIH campus and featured compelling presentations from scientists, patients, caregivers on topics such as HIV, AIDS, precision medicine, protein folding neuroscience, and rehabilitation medicine. There are also discussions with policymakers and industry leaders on the health and economic benefits of biomedical research. For those interested videos of the various celebration of science events are available, the links provided in document 7. The NIH director, Francis Collins, clearly has some spare time in his hand. He started his own blog to highlight new discoveries in biology and medicine that are game changers, noteworthy or quote, just plain cool. Francis has actually been pretty good about blogging, posting new material several times per week, so if you miss him or you feel so inclined, please feel free to reach out and blog with the NIH director. The report from the working group on the use of chimpanzees and NIH supporter research has been submitted to NIH. Recommendations in the report pertain to chimpanzee housing, currently awarded project size and placement of NIH chimpanzee populations, and a review process for future research. The report recommends retirement and transfer of the majority of NIH chimpanzees to sanctuaries and the end of some research projects. Public comment pertaining to the report is now open through March 23rd and NIH plans to announce a decision on the recommendations in late March of this year. And I will now make a seamless transition from chimpanzees to the federal government's appropriation process, but don't read anything into that artful choreography. Okay? Alright, I just made the transition. Although we are several months into fiscal year 2013, we still do not know what NIH's or NHGRI's budget will be this year. I am sure that you have, like me, been following the recent congressional debates on government spending and appreciate the continued budgetary uncertainty under which the government is operating. Here's what we know at this point. We are currently operating under a continuing resolution which allows the federal government to continue to operate in the absence of assigning a budget from Congress. Now this will expire on March 27th. What happens after this date has yet to be decided by Congress? Congress could pass regular appropriations legislation to establish the final budgets for the year, but this is likely unlikely. A more likely scenario is that Congress will pass a new continuing resolution with a new expiration date. The other major factor in the federal budget at the moment is the looming threat of sequestration. As a brief reminder, sequestration is an across-the-board cut of 2013 budgets mandated by the Budget Control Act of 2011. In simple terms, what the Budget Control Act means for us is that there would be major cut to NHGRI's fiscal year 2013 budget unless Congress acts. Originally, the deadline for Congress to act was January 2nd. However, the American Taxpayer Relief Act passed on January 1st, 2013, and in doing so, the immediate threat of an 8.2% cut to the NIH budget was averted. We now find ourselves in a new situation. Congress doesn't act by March 1st that on March 27th there would be a new sequester. This time it is being estimated that the reduction in the fiscal year 2013 NIH budget would be less than the originally projected 8.2%. So for now I can tell you that NIH will not further ramp down spending in anticipation of a sequester. We will continue to operate cautiously pursuant to the law as well as general and NIH specific policies for operating under a continuing resolution until a final fiscal year 2013 budget is determined. Moving on, in June of 2012, three working groups of the advisory committee to the NIH director delivered their reports and recommendations after roughly a year of deliberations. NIH is now moving forward in implementing most of these recommendations and I want to now briefly update you about each of these areas and each of these working groups. So starting with the diversity and biomedical research workforce working group, this group analyzed the NIH intramural and extramural research community's retention of under represented minorities, persons with disabilities, and persons from disadvantaged backgrounds in the biomedical research workforce. The working group proposed strategies to implement their recommendations on improving diversity in the biomedical workforce and on NIH plans to implement these recommendations. They include establishing the NIH building infrastructure leading to diversity or build program and the NIH research mentoring network. Both programs are intended to strengthen mentoring and career preparation. Each program will create a coordinating and evaluation center to monitor outcomes and enhance fairness in the peer review process through pilot interventions. The biomedical research workforce working group focused on developing a model for sustainable and diverse U.S. biomedical research workforce able to inform decisions about training the optimal number of people for the appropriate types of positions to advance science and promote health. This workforce working group proposed several implementation strategies and these are being implemented by NIH. These include elements aiming to establish a grant program to encourage innovative approaches to biomedical training and institutions receiving NIH funds to improve training for graduate students and postdocs and to create an NIH functional unit to assess the biomedical research workforce in an ongoing way. The timing and details of for all of these implementation steps are currently being worked out. The third of the three working groups are data and informatics also referred to as the big data working group is the one that NHGRI has been the most involved with. In fact council member Jill Meseroff served on this working group and a number of us at NHGRI have been heavily involved in these discussions so I thought I would spend a few extra minutes providing additional details about this working group. Now the report of this working group shown here is really quite good and the recommendations in this report fall into two broad categories related to administrative and on-campus NIH data on the one hand and then scientific and biomedical data more broadly on the other hand. There is now an implementation plan being pursued to deal with the challenges of administrative data and on-campus NIH data bundled into an initiative called infrastructure plus which aims to create an adaptive IT environment at NIH to sustain world-class biomedical research. I can tell you NHGRI is only indirectly involved in this effort and so I will not discuss this further. For scientific big data NIH is acting on the recommendations of the working group by implementing a three-prong plan all of which NHGRI is extensively involved with. But before telling you about these new plans I really want to stress a point made by the working group in their report. The current biomedical big data problems that all of us face are not limited to genomic data. Admittedly genomics can be considered a poster child for the big data problems but there are many other data types such as those shown here that currently are or will increasingly be contributing to the broader challenges in biomedical research related to big data. So in implementing the recommendations of the data and informatics working group NIH aims to tackle the problem across all these data types and others. So just because NHGRI is being asked to play a major role in leading the implementation of the new programs it does not mean that the solutions are going to be limited to genomic data. So in tackling the big data problem Francis Collins recently announced the implementation of the following three things. First he has established a new NIH leadership position called the Associate Director for Data Science. An individual who will report to the NIH director and who will in essence be the NIH's programmatic leader in data science broadly defined. On an interim basis he asked me to be the Acting Associate Director for Data Science but I can tell you at the same time I'm also co-chairing the search committee that aims to recruit a world-class data scientist in the position so that someone other than me can be doing this. On that search I can tell you will commence in the coming weeks and I'm sure I'll be in contact with some of you to help identify suitable candidates and encourage them to apply. Second Francis has created a new internal NIH governing or oversight body for things related to data science and big data called the Scientific Data Council. This is an internal group but this group will be chaired by the Associate Director for Data Science. They'll have a number of important responsibilities including overseeing all aspects of the third element of this program and that's a new trans-NIH initiative called Big Data to Knowledge or BD2K. Now BD2K is a major trans-NIH initiative that aims to address an NIH imperative and a key roadblock in biomedical research related to big data and data science. It is designed to be extremely ambitious. It's aimed to be transformational, catalytic and synergistic and I really would regard its overarching goal as something of other lines of by the end of this decade to enable a quantum leap in the ability of the biomedical research enterprise to maximize the value of the growing volume and complexity of biomedical big data. A few other details BD2K is initially being organized for seven years through fiscal year 2020. Active planning for BD2K will take place throughout this fiscal year with the launching of some of the initial elements starting in fiscal year 2014 which is only eight months away at this point. At a time when budgets are tight the collective NIH leadership was able to identify both common fund monies and institute and center funds to allow the initiative to grow to just over a hundred million dollars by fiscal year 2016. Mark Geyer is leading a trans-NIH group of program directors involved in implementing BD2K and we expect that NHGRI will end up leading some of the elements of the program and as such will likely be bringing BD2K components to this council for your input. So for that reason let me just very briefly list for you the four major programmatic areas of BD2K with the promise that at future council meetings we will for certain be telling you about each of these important areas in greater detail and they are as follows will be four components to this one revolving around facilitating broad use of biomedical big data a second for developing and disseminating analysis methods and software for biomedical big data one focused on enhancing training for biomedical big data and then one for establishing centers of excellence for biomedical big data and again I'm just putting these out as teasers we will be coming back and discussing these in detail I'm quite sure at future council meetings. So those were the three working group reports for the advisory committee of the NIH director. So moving on last week it was announced that Subra Suresh the director of the US National Science Foundation will be leaving the agency in July to take up the post of president of Carnegie Mellon University. He joined the NSF in October of 2010 coming from the Massachusetts Institute of Technology where he was dean of engineering. And that is the end of my NIH updates so let me move on to general genomics updates starting on a sad note. The genomics community and all of us at NHGRI were shocked and saddened to learn of the sudden death of our good friend and colleague David Cox last month. David was truly a renaissance scientist he was a geneticist a pediatrician a technology pioneer and an entrepreneur. His contributions to genetics and genomics were many and were remarkable. He was formerly professor of genetics and in pediatrics at Stanford University and founder of Perligen Sciences. In 2008 he joined Pfizer to shepherd development of that company's efforts in genomic medicine. Of particular relevance to NHGRI he served on the program advisory committee of the human genome project in the early 1990s and was a major participant of the human genome project. Another good friend and loyal supporter of NHGRI and NIH Senator Arlen Spector passed away this past October at age 82 from complications of cancer. The former senator from Pennsylvania was a tireless proponent of NIH and its mission and together with Senator Tom Harkin Spector led an effort to double the NIH budget from 1998 to 2003 and he later helped secure $10 billion in stimulus funding for NIH within the 2009 Recovery Act. He was also a proponent of human embryonic stem cell research and helped to create the Cures Acceleration Network. A well-known figure within the genomics community Lee Hood has been awarded the National Medal of Science. This medal is the highest honor bestowed by the U.S. government to scientists, engineers and inventors. These accomplishments include the development of various automated technologies including the first automated fluorescent base DNA sequencer that enabled the mapping and sequence of the human genome and in many ways revolutionized the field of genomics. Congratulations Lee. The 62nd annual meeting of the American Society of Human Genetics convened in San Francisco in early November. At the meeting there were major awards given that are particular relevance for NHGRI. Francis Collins received the 2012 Victor A. Mecuzek leadership award which recognizes individuals whose professional achievements have fostered and enriched the development of human genetics and Jay Shinduri and NHGRI grantee was awarded the 2012 Kurt Stern award which recognizes outstanding scientific achievements occurring in the last decade. Another NHGRI grantee Stephen Quake was recently awarded the 2013 Nakasone award for his work developing technologies in biophysics, biological automation, genome analysis and personalized medicine. This award is given by the human frontier science program organization. Another good friend of NHGRI and former chair of our intramural research programs board of scientific counselors Hal Dietz was awarded the 2012 Talbin Prize for excellence in translational medical science. Hal's productive career studying Marfan, Loe Dietz and other connective tissue syndromes has led to a clinical trial using the blood pressure drug Lozartan for treating Marfan syndrome patients at risk for aortic aneurysm. Speaking of our intramural research program, one of our intramural branch chiefs Elaine Ostrander recently received a 2013 Genetic Society of America Medal. This award recognizes elegant and highly meaningful contributions to genetics within the previous 15 years of their career. In addition to her work on human prostate and breast cancer, Elaine is known throughout the scientific community as one of the world's foremost authorities on canine genomics. Another Genetic Society of America award, the 2013 Edward Novitsky Prize was recently given to Jonathan Pritchard, an NHGRI grantee. This award recognizes an extraordinary level of creativity and intellectual ingenuity in solving a significant problem in genetics research. The Institute of Medicine recently announced their newly elected members. New members of particular significance for NHGRI include Linda Chen, a major participant of TCGA, Dan Kastner, the Institute's scientific director and Steve Quake, who I just mentioned a few slides ago. And the same holds true for recently elected fellows of AAAS, with the individuals listed here having notable ties to NHGRI, Michael Brent, Susan Selnick, Joe Ecker, on our council, Steve Hennikoff, Kathy Hudson, Lynn Geordie, Rob Knight, Charles Lee, Elaine Ostrander, who I just mentioned, Reed Perutz, Dan Roden, Jane Silverthorne and John Stam. So congratulations to all of them. Well, after a lengthy search, the New York Genome Center has appointed physician scientist Bob Darnell as its first president and scientific director. Bob is an outstanding researcher and member of the Howard Hughes Medical Institute, and his expertise is in molecular biology, internal medicine and neurology. I've known Bob for a very long time. He was an MD-PhD student at Washington University just a few years older than me, actually just a couple years older than me in the program and actually was did his PhD in one of the two labs I did my PhD in. And I've we've remained friends ever since. I think this is a terrific addition and I've already had one conversation with them and I'm sure we'll be hearing more from the New York Genome Center in the coming weeks and months. Stanford University recently announced the launching of a new genomics research center, the Stanford Center for Computational Evolutionary and Human Genomics. Council member Carlos Bustamante is co-director along with Mark Feldman. The center's focus will be on using expertise and methods for sorting through integrating and analyzing large-scale data sets. The Office for Human Research Protections, OHRP, recently appointed four new members of the Secretary's advisor committee on human research protections. Two of those individuals are well known to NHGRI, Jeff Botkin, who's actually the chair of Designate, and formal council member and but now ad hoc council member today, Polaris Aria, and the other two members are Thomas Eisenberg and Owen Garrett. In some breaking news announced just last week, Joe McInerney will soon become the new executive vice president of the American Society of Human Genetics. Joe was the director of the National Coalition for Health Professional Education in genetics or Nishpeg for 10 years until 2010. He's also been active in NHGRI's ELSI program over the years. Joe has a master's degree in genetic counseling, has been a public proponent for the teaching of genetics and evolution for many years. We look forward to working with Joe when he assumes his new leadership position with ASHG. Well, last month, Gimerick et al published a paper in science describing a method to deduce to surnames and then identify individuals in the well studied self-population using data about short tandem repeats on the Y chromosome in various publicly accessible internet resources. Note that the identification of study subjects was possible without having a matching DNA sample and with access only to publicly accessible data sets. Well, the authors contacted NHGRI and NIGMS about their findings prior to publication so that we could explore possible options to mitigate the privacy vulnerabilities and the research data. As a precaution, age information for the self-participants, which previously was available through the public pages with an NIGMS's cell line repository at the Corial Institute and played a role in the participant identification, was moved out of open access. The PI for the self-study and IRB officials of the University of Utah were contacted to alert them to the new findings in advance of publication. NHGRI also discussed the matter with one of our genealogy, one of the genealogy resources used in the work that was used to identify the surnames. Well, to highlight the broader policy context of the reported work, NHGRI staff and Judith Greenberg, who is the NIGMS acting director, co-authored and accompanied policy forum in the same issue of science. That paper calls on the research committee to engage in a renewed and open discussion about how to balance protection of research participants with the societal benefits of broad data sharing, especially in the context of the increasing opportunities to connect research and non-research information in the public domain. The American College of Medical Genetics and Genomics released a position statement last November calling for the public disclosure of clinical variant data that laboratories collate from genetic testing. The statement describes the college's concerns about how gene patent monopolies are allowing some laboratories to develop proprietary databases that facilitate the interpretation of individual variants. In the statement, they explained that ACMG believes that monopolistic practices that limit a given genetic test to a single laboratory are inconsistent with their policy goals of broadly accessible and affordable genetic tests. Meanwhile, the lawsuit over myriads BRCA1 patents and possibly gene patents altogether may be heading towards a final resolution in 2013 with a recent announcement by the US Supreme Court that they will hear the case later this year. As you may recall, the case began in 2009 when several pathology societies as well as several clinical pathologists and breast cancer patients challenged the US patent and trademark office, myriad genetics and the directors of the University of Utah Research Foundation over the patent ability of myriads BRCA1 and BRCA2 related patents. Previously, a federal district court ruled in favor of the plaintiffs finding that myriads claims to the BRCA1 genes were not patent eligible. But this decision was reversed by the Court of Appeals for the federal circuit. The case was appealed to the Supreme Court. In March of 2012, the Supreme Court asked the Court of Appeals to reconsider the case in light of another long-running biomedical patent dispute between Prometheus and Mayo laboratories. But the Court of Appeals came to the same conclusion as before. The Supreme Court recently announced that they will hear the case this coming year, specifically on the question of whether or not human genes are patentable subject matter. The Supreme Court's ruling in this case will set a binding precedent for the lower courts. In other legal battles, you may also recall that just over two years ago NIH was blocked from finding any human embryonic stem cell research as a result of a court case brought by Drs. James Shirley and Teresa Dysher against Secretary Sibelius, DHHS, and NIH. The injunction against allowing NIH to fund embryonic stem cell research was lifted by the Appeals Court and Judge Royce Lamberth found in favor of the NIH in July of 2011. In late August of 2012, the Court of Appeals considered the case and also ruled in favor of NIH. And I'm pleased to report that on January 7th, the Supreme Court announced that they would not consider a final appeal from these two doctors bringing finality to this case and thus this case to a close. Well, in addition to federal laws, individual states pass laws that affect genomics research or have implications for genomic medicine. Some years ago, NIH or NHGRI created a database for tracking legislation at the state level on policy topics such as genetic discrimination by employers or health insurance providers. Over the years, the list of topics tracked has been expanded to include issues such as privacy and form consent and most recently, the use of residual newborn screening specimens. We have now updated the database to include all new statutes and bills from the last two years and added a table giving an up-to-date snapshot about the number of states with laws on each topics. And this database is accessible at our website, genome.gov. Last month, the Department of Health and Human Services issued a final rule implementing Section 105 of the Genetic Information Non-Discrimination Act, or GINA. This final rule amends the privacy rule of the Health Insurance Portability and Accountability Act, or HIPAA, to clarify that genetic information is health information. It also prohibits the use or disclosure of genetic information for underwriting purposes. Consistent with existing HIPAA regulations, the final rule covers a variety of health insurance types, both public and private, including growth health plans, insurance of health insurers, issuers of health insurance, Medicare supplemental policies, as well as military and veterans health care programs. The final rule becomes effective in March, and NHGRI continues to monitor GINA-related issues through contact with the agencies responsible for its implementation. As you may recall, the Presidential Commission for the Study of Bioethical Issues has been considering bioethics issues raised by advances in human genome sequencing. The Commission released its fourth report, Privacy and Progress in Whole Genome Sequencing, in October, gathering its information through a request for information, a survey of federal agencies in a series of public meetings. In its report, the Commission provided 12 recommendations to ensure privacy and security of whole genome sequencing data and information. The recommendations are intended to support privacy protections across three identified facets of responsibility, the conduct of genomic data users, the security of the systems employed to manage genomic data, and the policy frameworks established to oversee access to and use of genomic information. The majority of the report's recommendations are directed towards research and clinical activities, but there is some discussion relevant to direct to consumer companies and other private sector entities. Upon review of the report, we believe that NIH and NHGRI policies are consistent with the Commission's recommendations. The most recent meeting of the Commission in January, they announced that we'll be taking up the issue of incidental findings in biomedical research in a future report. The European Science Foundation, a non-governmental organization fostering scientific collaboration across Europe, recently issued a new report on personalized medicine entitled Personalized Medicine for the European Citizen. It observes that Europe needs to, quote, gain a clear understanding of what is needed to fulfill the promise of personalized medicine and begin to lay the foundations now that will allow us to benefit in the future. The report examines the key issues affecting the development and implementation of personalized medicine and provides a large number of recommendations for maximizing its potential. A meeting was held in Brussels at the end of January to discuss the report and how its recommendations can be implemented. The Department of Energy's Joint Genome Institute held a strategic planning workshop last spring and then more recently published this report. The major themes of the workshop and the report included continued and increasing large-scale genome sequencing, functional and structural annotation, improved bioinformatics methods, capacity to synthesize DNA, automation of biological experiments, and organization of scientific communities. Back over to the UK. The UK's National Health Service, NHS, recently announced an initiative that aims to sequence the genomes of as many as 100,000 cancer patients. The UK government has earmarked 100 million pounds to stimulate DNA sequencing for cancer and rare inherited diseases to train genetic scientists and healthcare workers to harness genomic sequencing technologies and to build the NHS data infrastructure for this. They hope to solidify their plans for this by April of 2014. NHGRI continues to feature a genome advance the month on our website genome.gov. Publications that were featured since the last council meeting described whole genome sequencing used to track an infectious agents' transmission path, encodes efforts to decipher functional elements in the human genome, genes and weight, the potential of genomics to improve our diets and single cell genome sequencing. And a number of genomic stories appeared in the news in recent months for starters. ENCODE was named as one of the runner-ups of science's top 10 breakthroughs in 2012. And earlier this year, the Wall Street Journal published a piece highlighting six medical innovations soon to transform the treatment of disease. Three of the six innovations featured genetics in genomics, specifically. Number two was the use of genome sequencing for routine medical checkups. Number three was pharmacogenomics for cancer treatment. And number six was gene therapy. Similarly impressive for genomics, making both me and NHGRI incredibly proud, was Time Magazine's list of the top 10 medical breakthroughs in 2012. Not one, not two, not three, not four, but five of the top 10 breakthroughs on the list had genomics and NHGRI's fingerprints all over them. Number eight was about decoding childhood tumors and the efforts of the pediatric cancer genome project being carried out by St. Jude's and Washington University. Number seven was about speeding DNA-based diagnostics for newborns using next-gen genome sequencing methods. Number six was about TCGA's breast cancer studies. Number two was about NIH's human microbiome project. And number one was about NHGRI's very own N-code projects and its impressive set of publications last year. Pretty impressive, five out of 10 last year. And finally, genomics in the news have been a number of organisms whose genome sequences have been reported since the last council meeting and these stories were also covered in the news at various levels. They included barley, camel, chickpea, cone jelly, flycatcher, goat, oyster, and its 28,000 genes, panda, the pig, watermelon, and wheat. And then, of course, there was that disturbing story that got considerable media attention about sequencing Sasquashes genome. But NHGRI does not officially endorse that claim pending further verification. So moving on to NHGRI's Extramural Research Program. The large-scale genome sequencing and analysis centers are undertaking numerous projects mostly related to complex disease and cancer. In the most recent grant year, the three centers produced over 300 terabytes of sequence, the equivalent of approximately 3,000 high coverage whole human genome sequences or 41,000 whole exome sequences. At the centers, there are over 120 ongoing projects focused on cancer, complex disease, rare diseases, and comparative sequencing. Meanwhile, these groups together had over 20 papers either published or impressed this past quarter alone. Getting into some of the more specific projects, for the 1,000 genomes project, the phase one paper was published in nature late last year. And 1,000 genomes consortium meeting was held prior to the 2012 ASHG annual meeting to discuss the last phase of the project and future plans. And then 1,000 genomes tutorial was held at the ASHG meeting itself with over 200 attendees. There were many, many presentations and posters that were also featured, 1,000 genomes data at the ASHG meeting. Phase three sequencing. Pardon the interruption. Your conference contains less than three participants at this time. If you would like to continue, press star one now, or the conference will be terminated. Can we kill that? Phase three sequencing, which will involve more than 2,500 samples, will be complete by March of this year. And to discuss analysis, the phase three data and analysis group meeting will be held in May prior to the Cold Spring Harbor biology of genomes meeting. Moving on to the cancer genome atlas. The cancer genome atlas held a series of meetings in November, starting with the second annual two-day public scientific symposium that was filled to its 500-person capacity. TCGA continues to generate and release results at a rapid pace with findings coming not only from the TCGO network, but increasingly from a large community of TCGA data users. The symposium was a great forum for sharing these findings and for the user community to interact with TCGA investigators. Presentations from the symposium are available as a video archive on genome.gov via our Genome TV channel of YouTube. At the end of the meeting, at the end of that week, there was a joint NCI NHGRI strategic planning meeting to begin prioritizing areas of research that will follow and leverage TCGA in similar large cancer genomics efforts. Participants in this meeting included Harold Varmas, TCGA staff from both NCI and NHGRI, acting directors of NCI's Center for Cancer Genomics, TCGA PIs, and members of this council, the NCI board and various ad hoc experts. The meeting produced a draft list of highest priorities goals which still need some discussion. One conclusion was that NCI and NHGRI need to continue to work together to push innovation and research and cancer genomics beyond TCGA. And NCI and NHGRI staff are now working to plan the next generation of initiatives. Now, Brad Ozenberger will be given a larger TCGA update later in this council meeting, but I wanted to briefly note a few TCGA highlights. Since the last council meeting, a major TCGA paper on breast cancer was published in Nature. And TCGA currently has three additional papers submitted and under review on renal clear cell carcinoma, on endometrial carcinoma, and an acute myeloid leukemia. This Kaplan-Meier survival graph is a small teaser of some of the important results coming out of the TCGA projects. It shows survival of individuals with endometrial tumors of four different molecular types based on specific genomic hallmarks. Unexpectedly, those containing mutations in the Pol-E gene, seen in the blue line, are completely progression free. 10% of the endometrial tumors have a Pol-E mutation. And in this TCGA study, all of those patients remain disease free for years following surgery. So Pol-E thus seems to be an important new genetic marker for oncologists to consider in therapeutic decisions. Our three centers for Mendelian genomics have had a productive year one in terms of disease gene discovery. Specifically, over 6,000 whole exome sequences have been generated for studying over 150 rare inherited diseases. This has resulted in the discovery of the genes for more than 20 diseases. And roughly a dozen manuscripts have been published or accepted for publication already. In terms of outreach and coordination, these centers are expected to disseminate methodologies and genomic data and coordinate with the rare disease gene discovery projects worldwide. Lists of phenotypes being studied by the centers are publicly posted and updated quarterly. Genomic data are released publicly at multiple levels from the list of candidate genes and disease genes to the sequence data via either via open access or via controlled access at DBGAP. The International Rare Diseases Research Consortium aims to deliver by 2020 diagnostic tests for most rare diseases and 200 new therapies for rare diseases. Jeff Schloss now represents NHGRI on the executive committee. Our centers mainly organize and participate in the diagnostic and sequencing scientific committee of this new consortium. And among the center's activities was the organization of a well-received session on Mendelian Genomics at the 2012 ASHG annual meeting. Moving on to the next component of our genome sequencing program, the Clinical Sequencing Exploratory Research Program or CSER, had a productive first year. All CSER projects are now recruiting patients with several already starting to return results to participants. CSER working groups are currently preparing manuscripts on a range of topics, including those focused on variant actionability and sequencing standards for clinical use. As you may have noticed, our new capabilities to understand our genetic future has entered the popular press. Time Magazine featured an article in December on the difficult decisions associated with having access to one's own genomic data and some of the tough decisions beginning to confront patients, parents, and doctors. And this article featured four of the six funded CSER groups. As a priority area for NHGRI, the CSER RFA was reissued and applications were reviewed in January. Again, we had a large number of meritorious applications showing the substantial activity already underway or being initiated in this area. An RFA for a coordination center which will support the CSER program and the return of results consortium was also issued. And this center will be important for the integration of CSER efforts with related NHGRI programs and dissemination of best practices. The last component of our genome sequencing program, the Genome Sequencing Informatics Tools or GSIT program, aims to democratize access to sequence analysis for a broad community of users outside of large centers. This program provides researcher-friendly sequence analysis tools from the combined efforts of six projects which cover a wide range of sequence analysis tasks. Together, the projects form the ISEEC Tools Network. An ISEEC Tools Portal Grant Supplement has been funded to build a program-wide interface to help users seeking tools to analyze their sequence data. And the portal will use innovative visual strategies and best design practices to simplify sequence analysis and enable users to develop their own analysis workflows with GSIT tools. Moving on then, in terms of our DNA Sequencing Technology Development Program, two commercial vendors released instruments last year. By later this year, these are anticipated to be able to produce high-quality sequences for a whole human genome, perhaps within a day, as new kits and flow cells are released. New grants were awarded as part of our Revolutionary Sequencing Technology program. Approaches include solid-state nanopores, hybrid between nanopore with the Pacific Biosystem System, faster electronic measurements for nanopores, novel electronic detection of sequencing by synthesis, and sequencing by hybridization in a microfluidic format. Our program's annual grant team meeting will be held in San Diego later this spring, and this will occur back-to-back with a public meeting on new sequencing technologies on May 1 and 2. Moving on to encode, a tutorial workshop was held to the 2012 ASHG annual meeting that provided information about both the encode project and also the Common Fund's Epigenomics program. The focus of the tutorial was how to use data from these resources to understand the role of genetic variation in human disease. The tutorial was attended by about 200 people and presentations from that workshop are also available on our Genome TV channel of YouTube. Encode began its third phase last September, and grant awards have been made to seven production centers, a data analysis center, a data coordination center, and six computational analysis groups, and all this was in addition to the 11 technology development groups funded earlier. An organizational meeting for the encode production PIs was held in December of 2012 to coordinate data production to establish new working groups. An encode is planning a consortium meeting in May of 2013. The data production centers, data analysis and coordination centers, computational analysis groups, and technology development groups will present updates on their projects, they'll begin to develop coordinated analysis plans, and finalize consortium goals and policies. Among the important encode data being pursued, data analysis being pursued, there are some cross species comparison papers that are being planned with manuscripts likely to be submitted early this spring. Mod encode is conducting comparisons of flyworm and human data. One main paper will examine chromatin, the second will examine transcription factor binding, and a third paper will compare the transcriptomes of these organisms. Mouse encode is working on a single paper comparing functional genomic elements in mouse and human. The annual SEGs grantee meeting was held this past October at the University of North Carolina. Nine centers shared their latest results through talks, posters, and lots of good conversation. The SEGs program solicitation expired this past year. These have a three-year lifespan. And later today, we will discuss renewing this program. In preparation for that discussion, you'll hear about the results of two SEGs projects that are ending from two of our council members. And then in the closed session, you'll be considering a new set of applications for possible funding. You may recall that NHGRI has been sponsoring a series of genomic medicine symposia involving and inviting representatives of academic medical centers and integrated health systems currently engaged in or hoping to become engaged in the active application of genomic medicine to clinical practice. This is a key activity led by council's genomic medicine working group. A manuscript describing an implementation roadmap for bringing genomic medicine to the clinic was accepted for publication in genetics and medicine and is now available through nature's advanced online publication service. The implementation roadmap is based on the outcomes of the genomic medicine one consortium, the first meeting of its kind, which took place in June of 2011. Meanwhile, as one of its informal roles, council's genomic medicine working group has started to compile high profile accomplishments in genomic medicine that illustrate the utility of genomics for clinical care. And we're cataloging these on the genomic medicine working group webpage on genome.gov as a resource. So just to give you some examples, in June, Jay Shenduri's group at University of Washington used whole genome sequencing of DNA isolated from maternal plasma to sequence the genome of an unborn fetus demonstrating the ability to do non-invasive genetic screening of a child before birth. Here at the NIH, Julie Segway's group used genome sequencing to track an outbreak of an antibiotic-resistant strain of Klebsiella pneumoniae at the NIH Clinical Center, allowing them to gain insights into its modes of transmission. Stephen Kingsmore's group at Children's Mercy Hospital in Kansas City created a system that could produce whole genome sequencing results for diagnosing genetic diseases in NICU patients in just 50 hours. And in October, investigators at Harvard showed that early-stage colorectal cancer patients with mutations in the PIC3CA gene could live longer by taking aspirin after their diagnosis. The Genomic Medicine Working Group held its fourth Genomic Medicine meeting two weeks ago in Dallas. The main goals of the meeting were to work with professional societies to identify ongoing efforts and current needs in physician education and genomics and understanding the processes of guideline development and the use of genomics and promoting collaborations among the societies in physician education and guideline development. Representatives from 10 professional societies across a range of disciplines as well as representatives from two regulatory bodies, specifically the Accreditation Council for Graduate Medical Education and the Accreditation Council for Continuing Medical Education attended this meeting. And the meeting was extremely productive. The major outcomes emerging from the meeting, including consensus to convene a professional society's coordinating committee. And we're working to bring this group together in the next month. And among other activities, the coordinating committee would collect current approaches and develop and disseminate society's best practices for pharmacogenomics, direct to consumer testing, genome sequencing, and incidental findings. And videos of the meeting will be available shortly on genome.gov. And meanwhile, the Genomic Medicine Five meeting is scheduled to take place in late May in Bethesda. One of the outcomes of one of the earlier Genomic Medicine meetings was the realization that we needed to better understand the issues surrounding health care reimbursement as it relates to clinical genomic advances. And an example of a good collaboration between different parts of NHGRI, staff from the Division of Policy Communication and Education took the lead in organizing a workshop focusing on reimbursement models to promote evidence generation and innovation for genomic tests. This meeting took place at NIH in October and importantly was held in partnership with the Center for Medical Technology Policy, or CMTP. In attendance were members of the Genomic Medicine Working Group and representatives from several stakeholder communities, including government payers, manufacturers of genetic diagnostic tests, and academia. The attendees discussed the concern that the lack of evidence of clinical utility leads to genomic-based tests not being covered by health insurance. And the groups discussed ways in which the problem can be overcome by coupling the coverage of tests with ongoing research as to their utility. The meeting identified a number of action items, including an analysis of the legal and policy issues affecting data sharing between stakeholders, such as payers and test developers, and research on physician practices related to the ordering of tests. In a summary of the meeting can be accessed on genome.gov and both NHGRI and CMTP staff are now working to pursue action items coming out of that meeting. Well, because genome sequencing is increasingly being used to diagnose and develop potential treatments for human disease, we sponsored a workshop immediately after our September council meeting to address the challenges involved in determining whether a variant is causal in a specific disease. The goal of the workshop was to develop guidelines for assessing the evidence implicating sequence variants or genes as causal in a specific disease and an effort by NHGRI's communication group to provide live video of as many NHGRI workshops as is feasible. The workshop was the first to be streamed online and the archive is also available on genome.gov. And a consensus manuscript coming out of the workshop is in preparation and hopefully will be published later this year. Moving on to the Emerge Network, a key goal of the Emerge Network in its current phase is to explore the best avenues to incorporate genetic variants into electronic medical records for use in clinical care among diverse populations. The Emerge Network has had a significant impact on the scientific community and one indicator is the number of publications coming out of the program. So far, Emerge has published 23 papers as a network and 64 papers have come out of individual studies and highlighted in this slide demonstrating sort of how advances in genomic studies of clinical disease and traits benefit from the linkage of electronic medical records to biorepository samples. As you may recall, the Genomics and Randomized Trials Network or GARNET was started in 2009 to identify genetic variants associated with response to treatments in three randomized controlled clinical trials as listed here. The program which was comprised of a series of genome-wide association studies held its final steering committee meeting in December of 2012 and grants are in their last year of funding. So far, GARNET is associated with 30 publications at various stages of maturation and more are expected as the program finishes its final analyses. Finally, turning to NHGRI's ELSI research program, this past fall, NHGRI established a Genomics and Society Working Group as a working group of this council. The mission of this working group is to provide advice on short and long-term range planning and priority setting for genomics and society activities at the institute with particular emphasis on the ELSI research program. The first in-person meeting of the working group will be held in April. The new Centers of Excellence and ELSI Research or SEER specialized centers, P-50 and Exploratory Research, P-20 applications were reviewed in November and will be discussed later in the closed session. Finally, the return of research results consortium in the clinical sequence and exploratory research program will hold their second joint meeting in May. This meeting will bring together investigators from the SEASER program as well as R01, R21 and other independent projects funded by the ELSI research program related to return of results. And those are the highlights from the extramural research program. So now, turning our attention to the NIH Common Fund, starting with the Molecular Libraries Program or MLP, which offers researchers access to screening capacity needed to identify small molecules that can be optimized as chemical probes to study the function of gene cells and biochemical pathways. Chemical probes may also be used to validate new drug targets. Now, remember that MLP began in 2004 with Common Fund support and will be one of the first large programs to transition off of Common Fund support when it ends in May of 2014. Several strategies are being used to transition MLP initiatives off of Common Fund support. One strategy is to have NIH institutes and centers support ongoing initiatives. For example, NCATS is now funding the NIH Chemical Genomics Center, NCGC, which was originally an MLP Pro Production Center. Initiatives that have achieved their objectives like the Pilot Scale Libraries Initiative will be closed out. And private sector support will be sought for some MLP initiatives like the Molecular Imaging and Contrast Agent Database. Other MLP resources remain important, so other sources of support for their maintenance have been identified. For example, the Small Molecular Repository is a compound bank containing highly diverse compound structures ideal for screening in the search for chemical probes. This repository has grown over the years to become a valuable resource, now containing over 380,000 compounds. Plans are for this resource to be partially supported by NCATS. NIH is also exploring ways to provide compounds to investigators at cost to help support the repository. MLP data sharing policies call for the deposition of all assay and chemical structure data about positive and negative results in the PubCamp database, and this database will be maintained by NCBI after the program ends. NCATS is managing and hosting the MLP Assay Guidance Manual and High-throughput Screening Assay Guidance Criteria. Reports on the chemical probes discovered by MLP are available on the NCBI Bookshelf. These probe reports are also listed as citations in PubMed. And MLP is developing a Bioassay Research Database that will provide expanded biological queries of chemical biology data. Plans are for NCATS to maintain the database after Common Fund support ends. Moving on to another major Common Fund project, the Human Microbiome Project. Recall that the initial HMP effort is in its last year of funding. The Common Fund is proceeding with a smaller next phase for HMP, known as HMP2, with the aim of deciphering the role of the microbiome in human health through the integration of several microbiome multi-omic data sets obtained from human donors. Applications for HMP2 were received in response to an RFA. For HMP2, the Common Fund will provide $5 million per year for three years for a total of $15 million, and funding will commence this fiscal year. A trans-NIH microbiome working group is now in place and has 64 members from 16 institutes and centers. This group will track and coordinate microbiome related funding opportunities across the NIH. These efforts will help prospective applicants identify relevant funding opportunities and program staff at different institutes and centers. And HMP will hold a major meeting in 2013 entitled NIH Human Microbiome Science, Vision for the Future. This meeting has been organized to provide an overview of cutting-edge work and NIH supported microbiome research and to identify the obstacles to and opportunities for progress in this emerging area of biomedical research. Moving on to Knockout Mouse Phenotyping Project, HMP2, the most significant event for HMP2 since the September Council meeting, was the approval of a request to the Common Fund for Supplemental Funds to support embryo phenotyping. There is significant interest in the community about the identification and characterization of knockouts that are embryonic lethal. Because this work is expensive, HMP2 could only afford to confirm embryonic lethality by examining embryos at embryonic day 12.5. This does not provide much granularity in this broad class of mutations. For example, we cannot distinguish early pre-implantation lethals from placental failures or identify cardiac malformations or spina bifida. So emerging high-resolution imaging technologies like micro-computed tomography and optical projection tomography allow detailed examination of the embryos as early as embryonic day 8.5. And a position paper summarizing a community meeting held in 2012 is now submitted, but this manuscript describes the opportunities and rationale for such an effort. And this served as the basis for a request we made to the Common Fund for additional resources. And the Common Fund has now approved a supplement of $9.6 million over the next three years to generate these data and to store and disseminate these imaging data sets. Moving on to the genotype and tissue expression or GTECS project, which aims to build human gene expression and regulation in multiple tissues. The goal is to build valuable insights into the mechanisms of gene regulation and, in the future, its disease-related perturbations. Following its successful pilot, GTECS is about to begin its scallop phase with the goal of studying 900 donors. Genotype data will be obtained on all donors and RNA-seq analysis will be performed on roughly 20,000 samples. The donors will eventually have their genome sequence and a pilot exome sequencing effort will begin soon. A GTECS EQTL browser and data portal are now live in an RFA designed to enhance GTECS with additional molecular assays is currently open with a receipt date of March 28th. And you'll hear more about this and the rest of the GTECS program in an update later today. Moving on to LINX, the second annual. A LINX consortium meeting was held this past November and at this meeting, the external scientific panel noted that LINX has made good progress in data generation and technology development and expressed excitement about data access via the cloud and some of the interactive visualizations that are in beta release. The major recommendations for the future included that LINX explored data reproducibility and variability across replicates and formally consider a role for the community in selecting new experimental states. The redesigned LINXproject.org website also launched in November. This website will act as a central portal through which users can access LINX data and LINX tools. And then in March, this coming March, a LINX data forum will be held in Boston. Attendees are invited to participate in discussions about the curation and management of large data sets, methods for integrating data from diverse sources, that's imaging data, biochemical, gene expression data, as well as genomic data and the role of standards for data annotation and accessibility. Approaches to query browse and perform integrative data analyses with LINX and other data will also be showcased at this forum. H3Africa, which provides funding directly to African institutions to support genomic research, celebrate its official launch. At its inaugural meeting in Addis Abba, Ethiopia this past October. The meeting included grantees delivering presentations on their proposed research and a press event to publicly announce the initial awards. The next two days were devoted to a discussion of the policies that will guide the consortium and it also resulted in the convening of an H3Africa steering committee composed of principal investigators and funders and also the creation of 10 working groups for the consortium. The next H3Africa consortium meeting will be held in Akragana in May, back to back with the 2013 African Society of Human Genetics Meeting and you'll be hearing more about H3Africa later today as well. Last common fun update, recall that the NIH Undiagnosed Diseases Program or UDP started as an effort within the NIH Intramural Program but has now transitioned to common fun support. The planned expansion into a national UDP network will leverage the experience and resources of the intramural programs UDP to initiate similar endeavors at five to seven extramural centers across the country. An RFA for a coordinating center will serve as a resource to assist in the creation, support, intersite communication and management of the new network was issued in November of 2012 and applications were received at the beginning of February and we anticipate funding a coordinating center later this year. A program announcement was issued at the beginning of January to support gene function studies in collaboration with the UDP. These studies will investigate the underlying genetics, biochemistry and pathophysiology of newly diagnosed diseases identified within the UDP. Applications for this program announcement are due later this month and we anticipate issuing other funding opportunities for gene function studies as the program evolves. So moving on now to our newly created division of policy, communication and education just a few updates here. Since December of 2011, NHGRI has collaborated with Suburban Hospital in Bethesda and the Johns Hopkins University School of Medicine to hold a monthly seminar covering topics in genomic medicine as part of Suburban Hospital's Grand Rounds. The series is intended to educate healthcare professionals about the increasing role of genomics in clinical care. The lecture series has been very well received and Suburban Hospital has asked us to extend the series twice. Lectures have covered the intersection of genomics and breast cancer, cardiovascular disease, Parkinson's disease and auto inflammatory diseases among others and the next phase of the series is being organized and we'll focus on genomics and oncology. Each of the lectures has been attended by 80 to 100 practicing physicians mostly internists and medical subspecialists but in addition and in order to reach a larger audience all of the talks are being videotaped and made available on Genome TV channel of YouTube. For over a decade NHGRI's online talking glossary of genetic terms has been a favorite tool on the genome.gov website for teachers and students. It features over 30 NHGRI experts explaining roughly 250 genetic terms in lay language and in a conversational style. A year ago we released one of NHGRI's first mobile apps in this case for use of the talking glossary on the iPhone. That app has been downloaded more than 10,000 times from the Apple iStore. So in January of this year partly in response to input from teachers and students we released an iPad version of the talking glossary app. The iPad app contains all the same features as the online version including 3D animations and furl color illustrations and both apps are available free at the Apple App Store. NHGRI's Gene Jenkins and NCI's Kathy Calzone spearheaded the publication of a 2013 Genomics Special Issue of the Journal of Nursing Scholarship which was released online on February 1st. The articles are all now available. I actually co-authored the editorial relevance of Genomics to Healthcare and Nursing Practice which accompanied the 11 articles about genomics of common health conditions. The paper closing the special issue, a blueprint for genomics nursing science resulted from a joint effort with the National Institute of Nursing Research and provides recommendation for nursing research in this area. And finally webinars with insights from authors involved with the special issue will be coming soon and made available again at our Genome TV channel of YouTube. And last but certainly not least I always like to say a few things about accomplishments of our intramural research program and as always there were many, recent highlights from our intramural program since the last council meeting. Just to give you a flavor, I'll list a few. Bill Gaul's long-standing efforts in studying the Lysosomal Storage Just Order nephropathic cystinosis resulted in the FDA approval of the use of cysteamine which dissolves painful and damaging cysteine crystals in patients' eyes. Daphne Bell had an impressive paper published in Nature Genetics where she described driver mutations in six newly identified genes that play a role in serious endometrial cancer, one of the most lethal forms of uterine cancer. Andy Box of Inuses Group sequence and analyzed the genome of cone jelly recently published in BMC biology. K. J. Mung's group reported in the journal Cell Biology how deficient ATAD5 results installed DNA replication to a buildup of proteins and replication factories, a defect associated with cancer and mice. And Dan Kastner and collaborators reported Nature Genetics, the results of a GWAS analysis of Bessette's disease which pointed to four important regions in the genome known to play a role in immune function. We're at the end. Finally, I do want to give a personal thanks. First of all, to all the various NHGRI staff you should realize there's probably 40 or probably 50 to 60 people involved in pulling together the 100 slides I just went through and all the information associated with them. Needless to say without a group effort across the Institute I could never give such a detailed director's report at each council meeting. And then of course a special thanks to Chris Wetterstrand who serves as the ring leader in coordinating material development and who directly provides to me the final PowerPoint product for refinement. And thanks to Larry Thompson, Judy Wyatt and the NHGRI web team for making my director's report available as an electronic resource. But before I turn this over to council I do want to point out one other important historic event happened since the last council meeting. And I don't know if people realize what today is one council member may know what today is because today is the day that pictures and catchers report to spring training in baseball. We pay attention to these things especially diehard Cardinal fans. I have to point out because we all care about greatness at this council. The sad passing of Stan the Man Museum as a diehard Cardinal fan. I'm sure Rick Wilson shares the same view it was a sad day for St. Louis when Stan the Man passed away. This is shown here last year he got the Medal of Freedom the highest honor given by the President of the United States. He got Medal of Freedom before he passed away. So any case just want to point that out to commemorate the opening of spring training of professional baseball. Tomorrow's big day. And tomorrow's big day. And tomorrow's Darwin's birthday. I didn't have a slide for that because I figured I'd better not go over 101 slides. Who did he pitch for? Right, how many MVPs did he get? So with that I will close. Thank you for your attention. Happy to take questions. Joe. Yeah, I just wanted to clarify something. The British 100,000 Genomes is about germline sequencing. Correct? It might also be tumors. Well, that's what I was going to ask. Is it possible that there'll be for the cancer patients, tumors bank that could then also be? Yeah, so I don't know the answer. I'm looking if anybody in the back, any of my staff know any details. From the discussions I've had with people including the discussion Mark Eyron actually met with Mark Walpark recently when he was over here giving a talk at NIH. I think they're in very early days of deciding. I mean, they're not even planning to release a plan for this until 2014. So I think anything we hear are bits and pieces. I don't know if I would take any of them as etched in stone. Bob. Eric, I wonder if you could comment on whether NHGRI has any official or quasi official connection to the million bet project and having input into that program. I'm looking to Terry Minnelli, okay. She wants to step to a microphone. She doesn't have to. I can tell you that we have had, and maybe Laura Rodriguez as well because I know I've been involved in at least two, possibly three meetings that when they've come and talked to us and I've gone and attended at least one of their meetings and it's been mostly just discussion at this point. I think the detail, I don't think that's reached a point in details for us to figure out how we might participate because I'm not sure it's entirely clear to me exactly when they're ready to go forward on some of the things that we might be involved with. And I might just comment that they are, their investigators are working with us in a merge, come to multiple emerge meetings and so we have a collaboration established there at the higher levels of the VA. It's a bit more challenging as you might imagine in bureaucracy being what it is. Data sharing is a real problem for the Veterans Administration. And without that, we really can't go forward in anything formal. That said, Bob, I mean, I think we've been pretty good about inviting them to participate in things that we think would be irrelevant to somehow try to make sure we stay connected to their efforts as they develop. I'm on their genome medicine advisory board as is Cynthia Morton. And so if you'd like to have some input through those channels, let me know. Thank you. That is valuable for us to know. I was not aware of that, but it's good to have that connection through our council then. Any other questions?