 And I think with that, I'm ready to turn it over to Eric, director's report. Okay. Thank you, Rudy. Let me start off by pointing out that the open session of this meeting of the National Advisory Council for Human Genome Research is being webcast live. And as a reminder, all of our open sessions of council meetings are now videotaped and they're made available as a permanent archive on the web, including the presentations themselves and the various associated documents that come up. Now, in particular for the new members of our, oops, the new members of council, I want to make you aware there's an electronic resource associated with my director's report, sort of analogous to supplemental materials that are often made available, associated with published papers and could be accessed at the URL, shown here. And the slides that I'm showing during my director's report are also available on the site, both as PDF and PowerPoint files. Now, for slides that have specific documents or relevant websites associated with them, there's a document number indicated on the bottom right, which references the materials that can be accessed at the website shown here. In addition to the video archive I just mentioned earlier, this webpage and all linked documents will be archived on NHGRI's website, genome.gov, as a permanent historic archive. Now, there's going to be multiple other presentations during the open session of this council meeting and my director's report is tailored around these presentations. I won't be discussing these in great detail because it'll be covered by others later. So for starters later this morning you'll get an update about the NHGRI Intramural Research Program from its director, Dan Kastner. After lunch, Chris Austin, who's the director of the National Center for Advancing Translational Sciences or NCATS, will tell us about activities at that new NIH center and that will be followed by a report regarding the recent Genomic Medicine 6 meeting by Terry Monoglio. There'll also be a project update later today from Jane Peterson about the H3Africa initiative and then in the last part of the open session will evolve a presentation from the directors of the NHGRI funded large-scale sequencing and analysis centers, specifically Richard Gibbs, Eric Lander and Rick Wilson. So for the rest of my director's report, I'm going to hone in on these seven major areas, which I found to be a nice framework for covering the material that I want to share with you and we'll start with some general NHGRI updates. Well, let me tell you that it is truly the end of an era as NHGRI says goodbye to one of its founding members, Jane Peterson. After just shy of 25 years at the institute, Jane officially retired from government service on January 17th. She's currently working part-time with us through March in sort of transition mode. Starting later this spring, Jane will become the CEO for the Keystone Symposia and move to Colorado, where she'll be closer to her granddaughter and closer to the ski slopes. Jane came to the institute from NIGMS. She was there at the beginning of the Human Genome Project and saw the project through the mapping and sequencing phases, the debate about back-by-back versus whole genome shotgun sequencing and the multiple completions, the draft human genome sequence in 2000, then its publication in 2001, the finished human genome sequence in the whole human genome project in 2003, and then publication of the finished human genome sequence in 2004. Jane's scientific acumen, administrative creativity and out of the box thinking benefited the human genome project enormously. After the project ended, Jane played major leadership roles in establishing a number of successful programs, including the knockout mouse program, the cancer genome atlas, the human microbiome project, and the human heredity and health in Africa initiative, which I'll be talking about later this morning or today. She has seen the institute through different phases, having worked with all of its directors and acting directors, James Watson, Michael Gottesman, Francis Collins, Alan Gutmacher and now me. And I can tell you that every one of those individuals deeply appreciated Jane's remarkable contributions to NHGRI is an understatement to say that Jane will very much be missed, but at the same time, we wish her all the best in her new pursuits with Keystone Symposia. And as I mentioned earlier, you will get a chance to hear directly from Jane when she provides an update about H3 Africa later today. Carson Loomis, why is this doing this? Carson Loomis has also moved on from NHGRI, but it's not gone far having helped the Institute and the NIH run the Common Fund Molecular Libraries Program for a number of years. Carson has moved to NCATs to continue related projects. The major new appointment that I'm delighted to report represents a key piece of the reorganization of NHGRI's extramural research program that I implemented in late 2012. As you heard from Rudy earlier, I'm pleased to say that Dr. Larry Brody is now the director of the NHGRI Division of Genomics and Society. The extensive search process for this important leadership position ended up finding the optimal candidate on the other side of the Institute in our intramural research program, where Larry has been a genetics and genomics researcher for over two decades. He brings the Division Director position a unique combination of credentials that I'm convinced will make him highly successful in leading the important pursuits of that division. I can tell you that in a few short months since assuming the new position, Larry has also been making important leadership contributions both to the extramural research program as a whole and also to the Institute as a whole. Encouraged by this Council and by others to increase regular communications with NHGRI stakeholders, I started a monthly email message late last year called the Genomics Landscape. And each month, the communication aims to disseminate information from me to the broader genomics community and others interested in knowing about developments at NHGRI. Each month, I highlight two to four topics typically featuring one in greater detail. So in October, I highlighted the complex budget situation. And then in the following four months, I highlighted Larry Brody's appointment as Division Director, the recently initiated genomic medicine programs, the anniversary of NHGRI's intramural social and behavioral research branch, and lastly, the Big Data to Knowledge Initiative. I certainly hope these messages are found to be informative to those receiving them. And I'll tell you that my staff and I certainly welcome feedback about them, including possible topics you want to hear about for us to cover in the future. The NHGRI Smithsonian exhibition, Genome Unlocking Life's Code, has been open at the National Museum for Natural History now for more than seven months. And it continues to be a raging success, I say, with a parentally bias fashion. The most recent estimates indicate that more than 1.6 million visitors have seen the exhibition so far, with confidence that it will easily surpass the 3 million visitor mark before the exhibition leaves the museum in September. To assess what visitors think about the exhibition, survey and interview data have been gathered by the Smithsonian Institution's Office of Policy and Analysis, and those data are currently being analyzed. Among the many subcomponents of the exhibition, I'm delighted to tell you that more than 70 NIH scientists have volunteered to participate in different outreach programs within the exhibition, such as the Genome Scientist is in and the Genome Geeks programs. And as I've mentioned previously, the exhibition has also been a great place to showcase genomics to VIP visitors. Some of these opportunities are truly thrilling. So, for example, late last year, I had the honor to give a private tour of the exhibition to former Supreme Court Justice Sandra Day O'Connor, who's actually a member of the Board for the National Museum of Natural History. That visit included having the justice purify her own DNA, shown on the bottom right, one of the more popular hands-on activities featured at the exhibition. We're also sharing this venue with our own dignitaries, such as the attendees of last month's internationally focused Genomic Medicine 6 meeting that Terry Minolia will be telling you more about later today. This group of international genomic researchers enjoyed a private tour of the exhibition prior to the start of day two of their meeting. I will note that there continues to be discussions that were also stimulated by the tour we gave of these individuals about the possibility of replicating and translating the exhibition so that it can travel to other countries. Beyond the exhibition itself, we're involved in other partnerships that are organizing associated genomics programs. So, for example, we are working extensively with the Smithsonian Associates to produce a series of public programs that feature various topics related to genomics. Most of these occur in the evening down at the Smithsonian, and most of these are being videotaped by the Institute and made available on our Genome TV channel of YouTube. In addition, NHGRI has been working closely with the staff from the National Museum of Natural History's New Curious Learning Center, which opened this past December. This brand new center brings science to life for students and their families. For example, last Saturday, NIH staff gave a presentation on family history, and in March, NHGRI's Elaine Ostrander will speak about dog genomics, and then in April, Francis Collins and I will be giving a joint presentation on genomics and what it means for human health. All of these curious programs are also being videotaped by the Institute and will be made available on our Genome TV channel of YouTube. The Genome Exhibition will not be staying in D.C. forever, though. Rather, it will travel to other sites around North America starting in September, with its first stop being the Rubin H. Fleet Science Center in San Diego, where it will be resident until very early next year. This timing happens to coincide with the annual American Society of Human Genetics, ASHG meeting, which will be held in San Diego in October, and plans are being formulated to take advantage of the exhibition's presence in San Diego during the ASHG meeting. The Smithsonian and Science North, the company hired to travel the exhibition, are in the process of finalizing other travel locations for the exhibition through 2018. So moving on to general NIH updates. Well, you got to start with the most significant development for NIH since the last council meeting, and that relates to the fiscal year 2014 budget, or lack thereof when it came to starting up the new fiscal year. This, of course, resulted in a lengthy shutdown of the federal government, including NIH. There are many things that could be said about this unfortunate circumstance, but probably better left unsaid. Needless to say, it was really awful and really complicated and really something that you hope will never happen again, but, of course, it might. Well, in my typical fashion, I tried to find some humor to keep me sane during the shutdown, so I would scan for cartoons, and my favorite one that I found featured President Obama, who was complaining that he was having some trouble with his government, and he was talking on the other end to some poor guy at a help desk who just suggested that you just try turning it off and on again, maybe that would solve the problem. I will tell you, though, in all seriousness, that the NHGRI staff, they were just truly terrific before, during, and after the shutdown, whether they were allowed to work or not, and I just want to convey my deep appreciation for their tolerance and their resilience before, during, and after the shutdown. But relevant to this council, I want to give a special shout-out to the entire community of NIH scientific review officers. One of the very apparent casualties of the shutdown was the cancellation of approximately 450 peer review meetings affecting the Center for Scientific Review and all the Institutes and Centers. Now, all of these meetings, all of these meetings needed to be rescheduled by the heroic efforts of review staff members across NIH, thereby avoiding the loss of one review cycle for thousands and thousands of grant applications. So I want to give a special thanks to the NHGRI scientific review branch, shown on the bottom left, who had to reschedule their October meetings into December. They had to replace lost panel members, and they had a right summary statements including right through the holidays. So kudos to all of them and all of their review colleagues across the NIH. Now, well, the shutdown did finally end, and we all came back to do our jobs, and eventually Congress did their job as well. And first, in December, Congress passed legislation that increased the cap on the total federal spending previously set for fiscal year 2014, removing the immediate threat of an additional sequestration cut this year. Then last month, when Congress passed an omnibus appropriations bill funding all government agencies, we were provided a fiscal year 2014 budget for NIH and for NHGRI. Now, as shown in the far right column, this year, NIH has funded at $30.1 billion, an increase of approximately 3.4 percent over fiscal year 2013. Of this, NHGRI has allocated $498 million, an increase of around 3 percent over last year. Basically, this budget undoes about half of last year's sequester cut, and thus keeps us noticeable, but still keeps us noticeably lower than where we were in fiscal year 2012. Nonetheless, we seem to have turned the corner with respect to budgetary decreases. Now, these numbers thus start to give us some clarity on what our final budgetary situation will be for this fiscal year, which will end in a little over seven months. So our eyes now quickly go to the fiscal year 2015 budget, and we expect that the President will submit his fiscal year 2015 budget proposal to Congress in the coming weeks. I can tell you that this year's increase to the NIH budget came following an extensive amount of effort by NIH leadership to explain the importance of the NIH mission to the general public and to Congress. For example, in December Francis Collins published this editorial about Investing in the Nation's Health and the Washington Post. I can also tell you that Francis Collins has now had more contact hours with members of Congress than any other director in the history of NIH. His efforts have been truly remarkable in terms of engendering support for all of NIH during these very tough budgetary times. But meanwhile, others of us have also worked to stress the importance of NIH to the general public. A fairly unusual but really great opportunity presented itself in December when C-SPAN came out to NIH to do a two-and-a-half-hour Washington Journal program. It was actually broadcast from within my office suite in Building 31 on campus. And the show consisted of a series of half-hour interviews of the NIH leadership that included Francis Collins and then four institute directors, Tony Fauci, Harold Varmas, Tom Insel, and yours truly. We each spoke and answered questions about the impact of sequestration and other reductions to the NIH budget on things like cancer, HIV, age, mental health, research, genomics, and other health areas. And before I move on from politics and the budget and Congress and so forth, I would just say that NHSR was very pleased to see a piece that was written by Representative Michael Burgess, a practicing physician for nearly three decades before becoming a member of Congress in 2003. Representative Burgess is a good friend of NHSR eyes and someone I've met on multiple occasions, including last year when he visited NIH as shown in the upper right. In November, Representative Burgess wrote an article in a publication called The Hill entitled, Genomics Opens a Bright New World. And he opens the article by saying, I admit it. I'm a little jealous of people that are becoming doctors now. And later in the article, he goes on to say, the true transformation comes with how these genome sequences are starting to change the way that doctors treat patients and the extraordinary therapies that could result. This is just the start of a new golden age of medicine. So those are pretty cool words and a great vision coming from a member of the U.S. Congress, which is why I want to share it with you. Well, moving on to new additions to the NIH leadership ranks, Dr. George Kub is now in place as the director of the National Institute of Alcohol Abuse and Alcoholism. Coming from the Scripps Research Institute, Dr. Kub arrived at the NIH last month. In December, Francis Collins announced the selection of Dr. Philip Bourne as the first NIH associate director for data science. As this council has heard about for a couple of years, NIH is tackling the big data problem in multiple ways, including the creation of a new NIH leadership position in data science. Phil comes to NIH from the University of California, San Diego, where he is currently the Associate Vice Chancellor for Innovation and Industry Alliances and a professor of the Department of Pharmacology in the Skag School of Pharmacy and Pharmaceutical Sciences. He's also the Associate Director of the Research Collaboratory for Structural Bioinformatics Protein Data Bank. Of particular relevance to NHGRI and this council, Phil will assume the leadership of the Big Data to Knowledge or BD2K Initiative, taking over that responsibility for Mark Geyer and myself. And as you may recall, I've been also serving as the Associate Director for Data Science for almost a year now, and I'm both eager and pleased to pass that baton on to Phil when he arrives next month. I will tell you that several of us at NHGRI, myself, Mark Geyer, most recently, Laura Rodriguez, have been working closely with Phil to help him transition into his new position, and I expect extensive interactions with him for many years to come. For another leadership position newly created by Francis Collins, Dr. Hannah Valentin has been selected to be the first NIH Chief Officer for Scientific Workforce Diversity. The position and her recruitment stems from a recommendation by the Biomedical Research Workforce Diversity Working Group of the Advisory Committee to the NIH Director that called for the establishment of an NIH leadership position entirely dedicated to diversity. And she's expected to begin her new role this spring. Dr. Vivek Murthy has been nominated by President Obama to serve as the 19th Surgeon General of the United States. He is co-founder of Doctors for America, which focuses on advocating for affordable healthcare to all Americans. If confirmed by the U.S. Senate, he would succeed the current acting Surgeon General, Dr. Boris Luzniak. Now, as some of you may have seen, a request for public comment on the long awaited draft NIH Genomic Data Sharing Policy was published in the Federal Register on September 20th of last year. This was the much talked about update to the 2007 GWAS Data Sharing Policy. The comment period closed on November 20th in a total of 107 public comments were received from academic institutions, research organizations, professional societies, industry, commercial organizations, advocacy groups, and other organizations, as well as some individuals. The comments were generally supportive of the draft policy's principles of data sharing, participant protections, and intellectual property. Some comments raised concerns about the possibility of adverse consequences from the implementation of the policy, such as increased burden and decreased research participation and collaboration. There were also requests for greater guidance in various areas of the policy. The NIH Office of Science Policy is now analyzing those comments and NIH staff remain actively involved in the process. And NHGRI staff remain actively involved in the process. For example, I serve as co-chair of an internal NIH oversight committee for the policy, and we hope to have a response to the public comments and a final policy public released by this spring. But another topic, for past few years, the biomedical research community has been growing increasingly aware of the problem of data reproducibility. And billions of dollars of both public and private money are spent on biomedical research each year, but this investment is only a value if the generated results can be reproduced. Unfortunately, that is not always the case. And in separate efforts, studies from the companies Amgen and Bayer found that as few of a third to a tenth of landmark publications in oncology and cardiovascular biology could not be reproduced. While very few of the irreproducible research cases are thought to be acts of intentional fraud or misconduct, systematic factors abound in the research enterprise that contribute to the problem. From poor training of researchers in experimental design to incentives from various funding agencies, academia and publishers that encourage overvaluation of findings published in so called high impact journals. Well, these are the conclusions of a commentary written by Francis Collins and NIH Deputy Director Larry Tabeck, which was published in Nature last month. Discussing both the problem and NIH's plans to tackle it, this commentary outlines some of the proposals being implemented at NIH, which include new training for postdoctoral fellows, extra scrutiny of applications during peer review and the sharing of raw data sets. So moving on from NIH to general genomics updates, I'll start with a sad news. Fred Sanger, biochemist extraordinaire and two-time winner of the Nobel Prize passed away in November. He was 95 years old. One of his Nobel prizes was awarded for Fred's development of Sanger sequencing, the method of DNA sequencing used by the Human Genome Project to generate that first human genome sequence. He can easily be credited with the start of the genomic revolution and our field has truly lost a scientific pioneer. I'm also saddened to report that NHGRI has lost a good friend and colleague, Dr. Janet Raleigh. Janet died in December at the age of 88. In addition to being a great friend and mentor to many of us at the Institute, she was a wise and valued advisor, serving on our Board of Scientific Counselor at the very beginning of our intramural research program and later on this council. The genetics in the genomics community has certainly lost a legend. Harry Petrino's deputy director for research at New York University Center for Urban Science and Progress and a good friend of NHGRI's is one of this year's recipients of the International Foundation for Greece Award, a tribute to those of Greece's Greek descent living beyond its borders with outstanding accomplishments in the areas of science, art, entrepreneurship, film and theater, media, and philanthropy. To celebrate Harry's accomplishments as this year's science honoree, the commemorative postage stamp shown here has been issued. Congratulations to Harry. Congratulations is also due to individuals who were given awards at last years, the 2013 American Society of Human Genetics Meeting in Boston. First, Eravinda Chakravarti was the 2013 recipient of the William Allen Award for Substantial and Far-Reaching Scientific Contributions to Human Genetics. And second, John Moran was the 2013 recipient of the Kurt Stern Award for Significant Scientific Contributions during the past decade. So congratulations to Eravinda and John. Congratulations also due to Joe Derisi, Howard Hughes Medical Investigator and faculty member at the University of California, San Francisco. He's the recipient of the 2014 John J. Cardi Award for the Advancement of Science. Dr. Derisi has been honored for developing new genomic technologies and using those methods to make discoveries of virology that are fundamental and practical importance. Similar congratulations are due to Rick Lifton. The Breakthrough Prize in Life Sciences recognizes excellence in research aimed at curing intractable diseases and extending human life. And one of the 2014 recipients of this award is Rick Lifton, Howard Hughes Medical Investigator and faculty member at Yale University. Rick was given this award for his discovery of genes and biochemical mechanisms that cause hypertension. Rick is also a former member of this council. He's also a former advisor for our genome sequencing program and he's a current grantee in the Center for Mendelian Genomics Program. The Institute of Medicine recently announced their newly elected members of relevance to our community are these new members that include David Demetz, Judy Garber, Richard Claudner, Brendan Lee, Pamela Sklar, and Chris Walsh. Congratulations to all of them. As well as similarly, a number of genetics and genomics researchers were recently elected to be fellows of AAAS with their names listed here. And congratulations to all of these individuals as well. Moving on, as you may have heard, soon after I reported at this council in September that the National Coalition for Health Professional Education and Genetics, or NESHPEG, had closed its operations and that ASHG had thankfully stepped in to host its resources on the ASHG website on an interim basis. An announcement came out that NESHPEG and all of its resources had found a new home at the Jackson Laboratory. And in line with the Jackson Laboratory's new Genomic Medicine Initiative, Jack's Genomic Medicine, the laboratory plans to expand their education activities to include healthcare professional, continuing medical education in genetics and genomics. This shared opportunity to create new curriculum and programs will benefit from the expertise of key former NESHPEG employees who have moved from NESHPEG to the Jackson Laboratory's education group. And the Jackson Laboratory will temporarily maintain the current education programs and website at NESHPEG.org and then materials will transfer over to the new Jackson Laboratory's website. Now, as you may recall, the Presidential Commission for the Study of Bioethical Issues released its fourth report, Privacy and Progress and Whole Genome Sequencing, in October 2012. Now, this past September, the Commission released two educational modules relating to the report, one on conformed consent and one on in community engagement. In December, the Commission released its sixth report, Anticipate and Communicate, shown on the right, making recommendations about the return of incidental findings. Well, to develop that report, the Commission held four public meetings, requested public comment on issues related to incidental findings and consulted relevant experts, as well as recipients of incidental findings. The Commission issued 17 recommendations and the report is not restricted to genomics and is intended to provide high-level guidance for a variety of fields. The Commission's recommendations are not revolutionary, but they may spur progress in addressing the challenges posed by incidental findings by giving the clinical and research communities a foundation on which to develop their own policies and best practices. NHGRI is and has been in conformance with the Commission's recommendations for funders in terms of their support for research that might involve incidental and secondary findings. We're also actively exploring through both research and policy-related discussions how to manage the generation and return of incidental genomic findings. Well, understanding how to regulate genomics is not just a question for researchers. It's also on the mind of policymakers. And the past few months have seen a flurry of genomics-related activity in the regulatory arena. First, at the end of October, the Food and Drug Administration, FDA, published a report paving the way for personalized medicine, which lays out how the regulatory agency is responding to and anticipating scientific developments in therapeutics and diagnostics. Less than a month later, the agency announced that it has cleared for clinical use the Illumina's MySeqDxDNA sequencing platform, a universal kit of reagents and two cystic fibrosis specific assays for that sequencing platform. Illumina sought and obtained what is known as 510K clearance from the FDA, who then classified the sequencer and universal reagent kits in a way that lays the foundation for other platforms to do so in a straightforward fashion. FDA's announcement for this clearance was accompanied by this perspective in the New England Journal of Medicine written by Francis Collins and FDA Commissioner Peggy Hamburg. A mere three days after the Illumina MySeq clearance, the FDA reminded others in the genomics industry of their power as a regulator. The agency ordered 23andMe, the California-based personal genomics company, to cease and desist marketing their personal genome service until it received approval as a medical device. As stated in the FDA's warning letter, 23andMe, earlier, applied for 510 clearance for their personal genome service, which the company has been marketing as providing health reports on a multitude of diseases and conditions, but communications with the FDA had ceased, although requests for more information had been made. In an analogous development last month, the Federal Trade Commission, FDC, announced that it reached a settlement with GeneLink and its former subsidiary for you over deceptive advertising claims made to promote genetically tailored nutritional supplements and skin care products. As part of the proposed settlement, the companies would be barred from making claims that their products prevent, treat, or reduce the risk of any disease unless it is demonstrated to be true and backed by at least two well-controlled studies. Moving on, featured as an NHGRI genome advance of the month since the last council meeting include publications describing Y chromosome evolution, exome versus whole genome sequencing, the American College of Medical Genetics incidental genomic findings, and dual-use codons in the human genome. And then in terms of year-end accolades, the gene-editing technique CRISPR was named as a runner-up for science's 2013 breakthrough of the year. As many of you know, CRISPR-Cas9 is a molecular mechanism that operates in bacteria, protecting cells against invading viruses, and it's been adapted to manipulate specific gene sequences in eukaryotes. The method has several advantages over other genome-engineering methods, such as zinc-finger nucleases and talons, both of which required designing new proteins to wield the molecular scalpel. The CRISPR method instead uses short RNAs to specify the genomic targets for manipulation and has been demonstrated to be faster and easier to deploy. Two NHGRI grantees, George Church and Eric Lander, are among an elite group of investigators fostering this revolution. The method is a great potential to be used in studies ranging from correcting the contribution of disease-specific disease-related gene variants with particular phenotypes to revolutionizing the ways in which knockout mouse phenotyping project can generate its collection of mice. In addition to the annual breakthroughs, both science and nature featured other accolades worth mentioning. Science named clinical genomics as an area to watch in 2014 for potential advances in patient care. And then nature named Gordon Singera, chief executive at Oxford Nanopores won a five-to-watch in 2014 for the potential of the company's Minayan DNA sequencer. Other recent examples of genomics in the news include the Atlantic, published a conversation with Eric Lander about how genomic advances are transforming medical research in the article When Will Genomics Cure Cancer? You can read about personal genome sequencing in the Men's Journal article, Crack Your Own DNA Code, our own Larry Brody, provided background for this article. The latest Consumers Digest features the article Genetic Testing, Promises and Problems. And lastly, I should mention that PCR turned 30 this past year and that milestone was featured in a number of articles. And in terms of genomes in the news, there have been reports of a number of newly generated genome sequences since the last council meeting. These include genomes of the Amer Tiger, the White-Bangled Tiger, the African Lion, White-African Lion, Snow Leopard, Melbury Tree, Pyonima Confluence of Filamentous Fungal Species, of course the Cucumber, the Tibetan Boar, Minka Whale, Amborella, the Sister Lineage to Other Flowering Plants, the Good-Lookin' Elephant Shark, the Bermuse Python, King Cobra, Oil-producing Micro-Edge LG, of course Neanderthal, the Migratory Locus, Hookworm, the Figwasp, the Scorpion, and Comb Jelly. And some of these even made it to science's list of genomes of the year. And since the last council meeting, there have been a number of new genomics in video pieces that have become available that I want to bring to your attention. You could watch me in a series of video clips at the Big Think website discussing genomics, the Human Genome Project, and the Smithsonian Genome Exhibition. I was also interviewed at EMBO about the advances in human genomics since the Human Genome Project and the challenges and implementation of genomic medicine. And then, through TEDMED Great Challenges, I hosted a chat about genomics in medicine where promise meets clinical practice. And for that event, I was joined by Sharon Terry, but also council members Jim Evans, shown here, and also Carlos Bustamante and Amy McGuire. Moving on then to our extramural research program. Well, the large-scale sequencing analysis centers, the biggest component of our flagship genome sequencing program, seek to address major biomedical questions by performing high-throughput genome sequencing projects. These centers have published or submitted 32 new papers in the most recent quarter on topics ranging from heterozygous mutations and pediatric diabetes to computational approaches for the detection of functional variants in cancer genomes to patterns of retro transposition in mammals. Then in December, the Alzheimer's Disease Sequencing Project, a very large effort being carried out by these centers, had its first data freeze and release of whole-genome sequence data. This was comprised of data generated from 410 individuals from 89 families. The entire family study component, totaling 586 whole-genome sequences, has been submitted to DBGAP. The second phase of the project involving the generation of whole exome sequence for 10,000 cases and controls is well underway. Another major project for the large-scale sequence and analysis centers is the 1,000 Genomes Project. That project is in its final phase with about 90 million genomic variants found to date in 2,535 samples from 26 populations. These include about 76 million single-nucleotide polymorphisms or SNPs, about 7 million indels, and about 7 million structural variants and other complex variants. Further analysis is ongoing with the release of variants expected by the fall of 2014. The last analysis group meeting and tutorial were held in conjunction with the October ASHG meeting. And lastly, the final 1,000 Genomes Project and community meeting will take place in late June in the UK. And another major effort of our large-scale sequence and analysis centers is the Cancer Genome Atlas or TCGA. This project reported its pan-cancer analysis of over 5,000 cases from 12-tumor projects as a nature genetics feature that included 27 papers and five thematic threads. As shown in this figure, the integrative and cross-tumor analysis revealed insights on the rate and spectrum of mutations associated with different carcinogenic etiologies, categories of significantly mutated genes across tumor types, patterns of co-occurring and mutually exclusive mutations, and genes associated with clinical features and with clonal architecture. TCGA is joining forces with the International Cancer Genome Consortium, ICGC, for a pan-cancer analysis project. The goal is to perform whole-genome sequence analysis on about 2,000 tumor-normal pairs, many of which also have transcriptome, DNA methylation, and other molecular clinical data. Tumor-specific analyses remain a major part of TCGA's focus, and a second TCGA glioblastoma manuscript was published in Cell in October, and then the first bladder cancer paper was published in Nature very recently. Finally, TCGA sample accrual is now complete and the project reached its target. Overall, the project expects to characterize over 11,000 cases from 30 through tumor types by the end of 2015. Moving to the next component of our genome sequencing program, the Centers for Mendelian Genomics were started two years ago, aiming to elucidate the genetic basis of as many Mendelian diseases as possible, using whole exome sequencing as their main approach. In terms of disease gene discovery, the Centers have collectively generated more than 10,000 exome sequences in studying over 860 rare diseases. While analyses are not yet completed, so far these efforts have resulted in the discovery of over 467 disease genes that underlie more than 273 genes. Of no, 202 of those genes are novel. In terms of publications to date, the Center has produced more than 70 publication, and most of these, more than 61, report on disease gene discoveries, while the others are on development of methods and resources and on the practices of data sharing. The disease gene discovery publications offer insight about novel disease genes and regulatory pathways and disease biology. Also phenotypic expansion of known disease genes, low to high levels of penetrance of multiple alleles, locus and allelic heterogeneative mutations causing the same disorder and other novel mechanisms such as oligogenic inheritance and Mendelian phenotypes, somatic mosaicism, and non-exonic variation. In terms of the broader network of Centers and its outreach, these Centers have thus far collaborated with over 414 investigators from 200 institutions in 33 countries. And as a way to coordinate with other discovery efforts, the list of disorders under investigation by the Centers is posted on the program's website and regularly updated. Furthermore, the Gene Matcher website has been launched to help solve unsolved cases. And this is a freely accessible website that allows investigators to post candidate genes of interest which allows them to connect with other investigators who post the same genes. Meanwhile, the International Rare Disease Research Consortium aims to develop diagnostic tests for most rare disorders and new treatments for 200 and more rare disorders by the year 2020. As members of this consortium, NHGRI and our Centers for Mendelian Genomics actively serve on the Executive Committee and on a number of working groups respectively. Specifically, the Centers have been playing significant roles in identifying common needs and coordinating projects in the working groups on phenotypic data collection and comparison, research and clinical sequencing standards, and disease prioritization. For example, the Program Gene Matcher and the similar programs developed by other consortium members are being connected to allow broad coordination of disease gene discovery efforts around the world. The next component of our genome sequencing program, the Clinical Sequencing Exploratory Research, or CSER program focuses on the integration of genome sequencing into the clinical workflow. CSER has now enrolled over 1,100 participants and sequenced the genomes of nearly 500 patients. Two recent CSER papers were published from the Actionability Working Group and the Electronic Medical Records Working Group. Other recent publications include recommendations for returning genomic incidental findings in response to the recent ACMG recommendations, classification of actionable incidental findings in NHLBI exome sequencing project participants, the implementation of a clinical sequencing pipeline, and the identification of activating mutations in the estrogen receptor and breast cancer patients on anti-estrogen therapy. CSER investigators have recently initiated a number of informal collaborations with other NHGRI consortia, such as Emerge, the Centers for Mendelian Genomics, and the ClinGen consortium. These informal interactions should promote important synergies across different programs supported by NHGRI. And also, I want to bring to your attention that CSER Coordinating Center at the University of Washington recently launched a CSER website, and this website includes information on all the various CSER grantees and their current programs. The fourth component of our genome sequencing program is the Genome Sequencing Informatics Tools, GSIT program, which is also publicly known by the name ICIC Tools. As a reminder, the program comprises six projects that develop approaches to provide research-friendly sequence analysis tools. The primary audience is the community of users outside the large genome sequencing centers. GSIT has released the SGAdvisor website as well as a tool, which is a user-friendly and secure web-based tool developed to annotate and filter genomic variants based on information about inheritance, population, and coding impact. SGAdvisor was recently used to solve a clinical case involving a 15-year-old girl who had a serious motion disorder. Research were able to pick out a de novo or gain a function mutation in the ADCY5 gene using SGAdvisor to sift through variants from her whole genome sequence. The same de novo mutation has now been seen in two other cases, and the ICIC Tools portal now contains the article, The Search for What's Wrong with Lilly, which describes this interesting research story. Well, the past few months have also brought a remarkable flurry of developments in the DNA sequencing technology space, and the next few slides are gonna illustrate some of these developments. Research reported in recent back-to-back PNAS papers by two NHGRI-supported groups, showed that cytocene, it's methylated form and the hydroxymethylated form can be distinguished from one another using nanopore sequencing. Now, DNA strands were translocated or through an engineered MSPA pore. 529 DNA polymerase was used as a stepper motor to draw DNA through the pore, one nucleotide at a time. Measurements rely on differential ion transport through the pore, depending on the identity of the nucleotides and the narrow constriction at the bottom of the pore is shown in this figure. Now, the second figure from Jen's gun-lax group shows ionic current levels from two experiments superimposed on each other. The red trace shows average current values for a DNA sequence context in which methyl C is at the position shown in red, and the black trace shows the data when there is a C in that position. More than 2,800 measurements were made from 16 different sequence contexts for the four nucleotides shown in the green box, with a C-methyl C or five hydroxymethyl C at the third position. The pattern for a particular context was always very different for methyl versus hydroxymethyl C. And a base-calling algorithm was developed from the data and the average accuracy was 97%. For some context, the base-call was uniformly consistent. Work continues to improve this base-calling method. Now, experiments of a similar design were reported by Mark Aikinson's group. They tested several different statistical models on 3,300 translocation measurements to define decision boundaries. Air rates for single-pass detection range from 1.7 to 12.2%, depending on the sequence context, leading to the conclusion that even using these preliminary methods, Q40 values for methylation status calls could be made by reading a single molecule five to 19 times. Many people believe that more robust and less expensive DNA sequencing systems will ultimately develop from solid-state nanopores. Just as protein nanopores require an enzyme as a stepper motor to control the rate of DNA movement through the pores, methods are also needed to slow DNA moving through solid-state pores if they're to be used as DNA sequencing sensors. This is because DNA on its own would move through the nanopores too quickly to enable high-quality base calls. Well, in the past few months, several groups have taught us how to do this using different approaches in various solid-state pores. So a group at Boston University showed how to slow DNA by coating silicon nitride pores with a layer of amine groups and modifying the pH of the surrounding solution. The same group could demonstrate DNA slowing when the side of the nanopore facing the DNA sample chamber is coated with a layer of hydrophobic nanofiber mesh. An Arizona State University group showed that by modifying a platinum electrode that lies atop a silicon nitride pore, which with recognition molecules that transiently hydrogen bond to DNA, translocation is slowed by about 10-fold. And a group at Northeastern University showed that nanopores and hafnium oxide, which is a material that may be more stable than silicon nitride under conditions needed for nanopore sequencing, transport both double-stranded and single-stranded DNA more slowly than do silicon nitride pores. Dynamic control of DNA translocation rate may also be possible. A group at the University of Illinois demonstrated by computer modeling that local heating can be used to control the stretching and motion of single-stranded DNA through a silicon nitride nanopore, and that heating can be controlled dynamically if produced by shining a laser beam on the edge of the pore. And a Boston University group showed that shining low-power laser light on a nanopore changes the charge relationships at the metal surface and slows by about 10-fold the rate of DNA translocation through the pore. Further, the effect is completely reversible by switching the laser on and off. Well, these last few slides show that examples of the research NHGRI is supporting to stimulate the development of what we anticipate may be an entirely new way to sequence DNA, one that may overcome some of the shortcomings of the current methods. That said, even the current set of DNA sequencing methods have seen truly remarkable advances in changes over the last few months. One vendor announced the imminent release of a new suite of systems that are claimed to further lower the cost and dramatically increase the throughput of genome sequencing. One of the world's largest DNA sequencing analysis organizations acquired a major DNA sequencing service provider. And two companies announced new chemistries for improved performance and one company announced a new access program for their new technology. Needless to say, these are not sleepy times in the world of DNA sequencing technologies and that is a good thing for everything that NHGRI is interested in doing. Moving from technology development then to biology of genome studies, the goal of the encyclopedia of DNA elements or encode project is to create a catalog of all functional elements in the genome and to make that catalog freely available as a resource to the biomedical community. Encode continues to pursue various important outreach activities. For example, a tutorial on how to use Encode in the NIH roadmap epigenomics data was held at the annual ASHG meeting in October. And also the cohorts for heart and aging research in genetic epidemiology or genomic epidemiology are charged consortium meeting in January. The ASHG tutorial was attended by about 120 people with the slides and handouts available on the genome.gov website. Approximately 200 researchers attended the charge encode tutorial which familiarized the charge consortium with the encode resource and provided an opportunity to discuss new collaborations between encode and charge investigators. And a slide cast will be developed to broadly share information presented at the charge encode workshop with the wider research community. The number of publications using encode data continues to grow at an impressive pace as shown here. So encode funded papers now total more than 23 publications by the mouse encode group and over 250 publications by the encode production groups and over 140 publications by the mod encode project groups. In addition, there's at least 390 publications by non-encode authors that use encode data and at least 80 publications by non-mod encode authors that use mod encode data. Turning then to our Centers in Excellence in Genomic Science or SEGs program. SEGs investigators gathered in Madison, Wisconsin in October for their annual meeting. Unfortunately, NIH staff were unable to join them because of the government shutdown. Meanwhile, the SEGs at Dana-Farber Cancer Institute was renewed since our last council meeting. The goal of this SEGs is to interpret how human genomic variants affect local and global properties of cellular networks to induce disease. And new SEGs applications are under consideration and will be discussed during the closed session. This council's Genomic Medicine Working Group continues to expand its portfolio of activities surrounding the implementation of genomic medicine. The sixth genomic medicine meeting entitled Global Leaders in Genomic Medicine was held in early January at the Institute of Medicine Facilities in downtown Washington, D.C. The meeting focused on international projects, potential collaborations, idea sharing, and synergy building for genomic medicine implementation. And the meeting brought together over 50 international experts in genomic medicine from over 25 countries, as well as a number of leading U.S. investigators. And similar to our very first genomic medicine meeting at which we identified a host of implementation projects already in the field, the level of implementation activity going on internationally was impressive and actually a bit intimidating. And you'll actually hear more about this and as a full summary that'll be presented by Terry Minoglio later in the open session. The Inter-Society Coordinating Committee for Practitioner Education and Genomics, born out of our fourth genomic medicine meeting on physician education and genomics, continues its very active role in enhancing the efforts of professional societies to work together in promoting genomic education among their clinicians. The group held its first in-person meeting in September and focused on drafting materials from several working groups. It has also fostered relationships with specialty societies willing to incorporate these education materials and content into their board exams. A white paper describing the gaps in clinician education, the potential for professional societies to address them is in press, in genetics, and in medicine. And a competency document is nearly finalized and will be submitted for publication as well as case study template. Additionally, the group has begun to explore the development of funding streams that will enable it to become self-sustaining. The committee continues to add member societies and NIH institutes and will be meeting again in April pending appropriate approvals. Moving on to Emerge, the goal of the Emerge network is to explore and disseminate the best approaches to incorporate genomic variant data into electronic medical records for use in clinical research and ongoing clinical care. Last October, the Emerge network published a special issue in genetics and medicine. Articles in this issue drew upon the extensive experience of the Emerge network informatics investigators and shared lessons learned in clinical implementation. And then in November, Emerge's new approach for genomic discovery was published in Nature Biotechnology. Emerge investigators observed that an EMR-based phenome-wide association study may increase the speed and efficiency of genetic exploration and may uncover pleotropy. Following this publication, news of Emerge's novel methods were highlighted in the New York Times bringing Emerge findings into the public eye. And Emerge held a workshop in late January, gathering Emerge investigators and external leaders in genomic medicine to provide their expert insight and to suggest possible future directions for the Emerge network. And a concept clearance for a possible Emerge phase three will be presented at the May Council meeting. The goal of the clinical genome or ClinGen resource is to create a centralized repository and interconnected resources of clinically relevant variants, something that is critically needed by the clinical and research communities. And shortly after the September Council meeting, we issued three cooperative agreements as part of ClinGen. Together, the investigators listed here, along with many other co-investigators and the NCBI ClinVar database team, make up the ClinGen consortium. ClinGen will standardize clinical assessment of variants, agree on data standards and develop tools to assist clinical labs with depositing variants into ClinVar. It will also develop a consensus approach to identify clinically relevant variants and disseminate this information. The first two clinical curation working groups will focus on cardiovascular disease and germline cancer. Close collaboration with professional organizations will be critical to ensure ClinGen is useful in informing the development of clinical practice guidelines so as to facilitate the use of genomic information in clinical care and research. And the ClinGen steering committee will meet again later this month to continue the development of this important resource. Another working group of this council, the genomics and society working group, held their second in-person meeting in November of 2013. This meeting included discussion of three critical aspects of the genomics and society research efforts at NHGRI. First, determining research priorities, what are the appropriate criteria for establishing research priorities for the LC research program. Second, the scope of the funding approaches and mechanisms across the LC research program, what are the strengths and weaknesses of various mechanisms and what's the appropriate balance among these mechanisms. And third, the establishment of boundaries of LC research, which research areas are within the scope of the LC research program and which are not. The working group will continue to examine these and other topics of their next in-person meeting in April. And as a follow-up to discussions at council meetings last year, NHGRI has issued two new T32 training notices. The T32 in genomic science will support pre-doctoral and post-doctoral trainees with greater focus on quantitative sciences, bioinformatics, and technology development. The T32 in genomic medicine will focus on training post-doctoral MDs and PhDs. This program will support two career paths. One, a genomic medicine focus for basic research. And two, a genomic medicine focus for clinical research but not clinical care. In addition, NHGRI has issued two new career development training notices. These programs will support a mentored career development experience for individuals who wish to acquire additional multidisciplinary expertise to enable them to become independent genomics researchers. The K01 program for research scientists will support two career paths. One, genomic science focus, and two, an ethical, legal, and social implications focus. The KO8 program for clinical investigators will focus on genomic medicine and is open to those who wish to transition their research efforts into genomic medicine. So moving beyond NHGRI extramural research programs to NIH Common Fund and other trans-NIH research programs. Starting with the Human Microbiome Project, HMP is now in phase two, which goes through fiscal year 2015. The goal of this effort is to create the first ever integrated multi-omic dataset of microbiome and host properties. These will include genomics, proteomics, and metabolomic data types, as well as clinical metadata from both the microbiome and the host. Together these will be used to evaluate which data types or combinations of data types provide the most insight into the role of the microbiome and disease. Three awards were made in September with Common Fund support and with co-funding from the indicated other groups for a total of $22.1 million. The HMP-2 consortium is made up of three projects, a preterm birth and the microbiome, IBD and microbiome, and diabetes in the microbiome with the major investigators for each listed on the slide. Next Common Fund project, the Knockout Mouse Phenotyping Project, or COMP-2, is jointly funded by the Common Fund and 18 other institutes and centers, was launched in 2011 with the goal of making and phenotyping 2,500 mouse knockout strains over five years. We are now halfway into the project and production is on track. The graph shows production of genotype-confirmed founder knockout mice in blue versus production goals in yellow. The subsequent milestone of phenotype-ready creed-deleted mouse strain production is shown in purple. We planned a complete mouse production in 2015 in order to have time to phenotype the mouse before the project ends in 2016. Our other major focus is now on phenotype data upload and quality control in preparation for rollout of the Pheno-DCC web interface. And the screenshot in the lower right shows the web interface for quality control and of the phenotyping data. The data upload system allows for sophisticated analysis of the uploaded data. It also tracks problems and communications among COMP-2 investigators. Finally, the International Mouse Phenotyping Consortium IMPC has launched a pilot project to evaluate CRISPR technology in a high-throughput production environment. The Genotype Tissue Expression G-TEX project aims to study human gene expression and regulation of multiple tissues through genomic analysis of rapid autopsy samples. The goal is to gain key insights into the mechanisms of gene regulation and in the future, its disease-related perturbations. After a successful pilot, G-TEX now enters its scallop phase and donor enrollment is ramping up. Thus far, 600 of our projected 900 donors have been enrolled and over 10,000 of our projected 25,000 RNA-seq studies have been completed. Seven U01 awards were made in early 2014 in response to an RFA to enhance G-TEX with additional molecular assays. Additionally, the G-TEX biospecimen access policy is live and three requests for outside investigators to access the samples have already been approved. In a response to the successful G-TEX community meeting in 2013, G-TEX will hold a second community scientific meeting in June. Over 250 people attended the first meeting and presentations from both G-TEX and non-G-TEX investigators demonstrated a wide range of analyses that can already be performed using G-TEX data. The goal of the protein capture reagents program is to pilot a community resource of low-cost, high-quality, renewable affinity reagents for human proteins and to develop technologies for next-generation platforms. The protein capture data portal went live in October. The scientific community can now browse all available protein capture affinity reagents generated by the program. And clicking on appropriate links brings you to distributor pages for reagent purchasing. And the protein capture reagents program held its third annual consortium meeting this past December. Program investigators presented their research and progress to date, and the consortium discussed future plans to improve network structure with the aim of positioning the programs for its second phase. The library of integrated network-based cellular signatures, or LINX, program aims to create a network-based understanding of biology by cataloging changes in gene expression and other cellular processes that occur when cells are exposed to a variety of perturbing agents. LINX uses computational tools to integrate this diverse information into a comprehensive view of normal and disease states that can be applied for the development of new biomarkers and therapeutics. The pilot phase of LINX is wrapping up by focusing on an internal collaborative project and how to transition the data and tools generated in phase one to phase two. And phase two will begin this summer. Applications for new data and signature generation centers have been received and will be reviewed in April. And an RFA for a BD2K LINX data integration and coordination center have been released with applications due in March. And a LINX symposium took place at the Broad Institute in November. The meeting featured introductory workshops on LINX resources, workshops for experienced users of LINX resources, and a variety of presentations from the community on current uses of LINX data and the potential use of LINX data and tools. And all the workshops in main session were oversubscribed, demonstrating increasing community interest in LINX. Moving on to H3Africa, H3Africa central goals to develop a sustainable and collaborative African genetics and genomics research enterprise. And in October, the third H3Africa consortium meeting was held in Johannesburg. Once again, NIH staff members were unable to attend because the government shut down. The meeting was reported to be highly successful with various consortium policies agreed upon. Since October, H3Africa working groups have been incorporating the feedback from the Johannesburg meeting and finalizing their documents, and policy documents on data sharing samples and publications are on the final stages of approval by the H3Africa steering committee. An H3Africa marker paper has been submitted to science for publication. Many H3Africa grantees have received ethics approval for their studies, and sample collection is well underway at some sites. The next consortium meeting, the fourth H3Africa consortium meeting, will be held in Uganda in late May. That meeting will be accompanied by three satellite meetings including a cardiovascular workshop and ethics committee meeting and a session on genome analysis. And moving then to our youngest of our common fund projects that NHRI is taking the lead on among the undiagnosed diseases network, UDN, which is being established to increase the capacity for and use of genomic data in the diagnosis of rare and new diseases. The network also hopes to aid in the development of management strategies for patients with such disorders. In December, the UDN Coordinating Center was awarded to Harvard Medical School. The Coordinating Center will play an important role in facilitating collaboration among laboratory and clinical researchers across multiple clinical sites and sharing data from cases throughout the scientific community. Currently, the Coordinating Center is working closely with the NIH undiagnosed diseases program to draft network-wide manual of operations. Applications for the UDN clinical sites have also been received under review and a total of five to seven awards are anticipated. Well, moving beyond common fund projects, per se, now to trans-NIH efforts, we're going to talk about the big data to knowledge or BD2K initiative. There's another number of updates to tell you about BD2K. While we await for Phil Bourne's arrival, staff from various institutes and centers, including NHRI, are forging ahead to get BD2K up and running. Now, several initiatives have already been developed to the point of issuing FOAs after obtaining community input through three requests for information, RFIs, regarding data catalog development, training, and software needs, and then holding four workshops regarding training data catalog development frameworks for standards and research use of clinical data. And then there are three additional BD2K workshops that are planned for later this fiscal year. Well, the first BD2K FOA was issued for investigator initiated BD2K Centers of Excellence. There was a great deal of interest, and we had a technical information webinar, for example, with 512 phone lines available, but that was not enough. And the webinar ended up being oversubscribed. Applications for this first round of centers were due in November, and the response was robust. These applications were reviewed in April and brought to this council in May. Awards are expected to be made in September. A second round of applications is planned for next fiscal year, fiscal year 2015. The first NIH-initiated BD2K Center FOA was released in December, 2013, with applications due in March. This program will be co-funded by BD2K and the NIH Common Funds Link Project. It is the first instance of a co-funding arrangement with BD2K, and we hope to provide a model for additional collaborations with BD2K. And awards will be made in late fiscal year 2014. Well, the original data and informatics working group of the advisory committee to the NIH director had recommended development of an NIH data catalog and an analogous NIH software catalog. Well, a major outcome of the workshop that was held on the data catalog really aimed to basically conceptualize this as a data discovery index, or indexing of distributed data resources rather than the creation of a data catalog with a centralized resource. And so an RFA was conceptualized to develop an NIH BD2K data discovery index coordination consortium. This is envisioned as involving efforts to conduct outreach, small pilot projects, manage communication with stakeholders, constitute and coordinate task forces to study relevant questions related to access, discoverability, citation for all biomedical data, and to assure community engagement in the development testing and validation of an NIH data discovery index. The RFA was issued in December and applications are due in March and awards will be made in late fiscal year 2014. And this is an example of sign being co-funded between the BD2K and also the NIH Common Fund. Finally, in terms of BD2K's training efforts, three training FOAs have been issued, one for Mentored Career Development Awards, one for Short Courses for Skill Development, and one for Open Educational Resources. Applications are due in April and awards will be made this fiscal year. Three other FOAs directed at long-term training opportunities are still under development. These will be funded in fiscal year 2015. So moving on then to our Division of Policy, Communications and Education. Well, the 2014 USA Science and Engineering Festival will take place April 25th to 27th at the Washington Convention Center. The festival has reserved the entire Washington Convention Center space, and it is only one of two events to ever have done this in the history of that convention center. In 2012, the festival hosted 250 attendees and organizers are expecting this to far exceed that number in 2014. Over 300 new organizations are participating in 2014, and the festival actually will hold a sneak peek Friday event on April 25th, which is a special event for school groups, homeschoolers, and military families. Participants will be able to preview and experience the festival's exhibits before it officially opens to the public. We, of course, will have a booth at the festival all three days, and we're planning to work with educators at the National Museum of Natural History to highlight some of the hands-on activities that we've been using from the Genome Exhibition at that museum. The Genomics and Medicine Lecture Series will culminate this year with four lectures on the relevance of genomics and neurology and psychiatry. The Lecture Series, which is a collaboration between NHGRI, Suburban Hospital, and John Hopkins School of Medicine, was launched in 2011, and 25 lectures will have been delivered by June of this year. The Lecture Series is aimed to educate healthcare professionals about the increasing role of genomics in clinical care, and has included lectures on genomics and oncology, ophthalmology, autoimmune disease, infectious disease, and other topics. The speakers are experts of their fields from NHGRI, from other NIH institutes, and from John Hopkins University. The lecture has been very successful. Attendees typically number in about 80 to 100 practicing physicians from the community. In addition, all video recordings of all the lectures are made available on our Genome TV channel of YouTube. The latest installment of resources on genetics and genomics, Competency Center, or G2C2 website, recently became available. Educational resources for pharmacists on pharmacogenetics and pharmacogenomics are now available through this free online repository for use in genetics and genomics education. A special thanks to the pharmacists listed on this slide who solicited peer reviewed and selected the resources to be included on the site. We're indebted to them for their substantial time and commitment for getting this job done. We anticipate that through the work of the Inter-Society Coordinating Committee for Practitioner Education and Genomics, which I told you about earlier, the next G2C2 installment will be for physicians. NHGRI and the American Society of Human Genetics, ASHG, are now accepting applications for the 2014 Genetics and Public Policy Fellowship and for the new Genetics and Education Fellowship. The Genetics and Public Policy Fellowship is designed as a bridge for genetic professionals wishing to transition to a policy career, but I really want to bring your particular attention to this new fellowship, the Genetics and Education Fellowship, which is designed for genetics professionals with an advanced degree who are early in their careers and interested in developing their expertise in national genetic and genomic literacy efforts, science education policy, and program development. And NHGRI and ASHG will accept applications for both fellowships through April 25th. And finally, I'm just gonna say a few things about the Institute's Intramural Research Program, and I should start with a real honor. Last fall, a team of intramural scientists from NHGRI and clinical researchers from the NIH Clinical Center were awarded the Federal Employee of the Year for their dedication and innovation in the face of daunting conditions. This award represents the highest honor given as part of the Samuel J. Hyman Service to America Metals Program, or SAMHES, which are presented annually by the not-profit, non-partisan partnership for public service to celebrate excellence in our federal civil service. Honorees are chosen based on their commitment and innovation, as well as the impact of their work in addressing the needs of the nation. Of the 2.1 million federal workers, the group shown here was honored as the Federal Employee of the Year. That group consisted of Julie Segre and Evan Snitkin from NHGRI and Tara Palmer and David Henderson from the NIH Clinical Center. Also shown in this group is ABC News Political Correspondent Koki Roberts, second from the right. They got this award for their work because in the summer of 2011, this NIH team creatively used genome sequencing to track an antibiotic-resistant bacterial outbreak that killed seven patients in the NIH Clinical Center, bringing the outbreak under control. That accomplishment was reported in a number of high-profile news stories, illustrating the role of genome sequencing to track infectious outbreaks. Congratulations to this group for that remarkable honor. Other highlights from the NHGRI Intramural Research Program since the last council meeting include Charles Rotimi, co-authored a paper published in Hypertension, reporting the first study that documents an association between childhood family structure and blood pressure in an African-American population. Andy Baxavanis and his group reported in Science their findings from the sequencing of the genome of comb jelly, challenging the long-held view of its position on the evolutionary tree. And Bill Pavan and Stacey Loftus, co-authored a paper published in Cell that reported a GWAS of an Icelandic population which identified a variant in the genome common in people with less pigment in their skin, hair, and eyes predisposing them to blue eyes, brown hair, and freckles. And finally, last month, Intramural Researchers, trainees, and staff of the NHGRI Social and Behavioral Research Branch and their many guests convened at NIH for a symposium to celebrate the branch's 10th anniversary. The symposium featured two invited talks by Richard Street and Robert Green in addition to numerous posters and other exhibits. And with that, I should give a personal thanks to all the various NHGRI staff, probably at least 50 or 60 of you who helped pull all those slides together and pull the information for me to give to you. Obviously, such a group effort is needed if I'm gonna pull this off at every council. And I have special thanks to the NHGRI Communications Group and web team that get all this stuff put up on the web to make an electronic resource. And then finally, a special thanks to Chris Rudderstrand who serves as the ringleader in coordinating material development and helps me actually pull this PowerPoint presentation together. You can see she has a message and you think for a minute it might be for me on her little board. This is from a dive that she did in Cozumel recently, but she did inform me that she actually took that picture for her nephew named Eric, not for me. She simply repurposed it for this particular slide. But thank you, Chris, nonetheless. So with that, I will stop and happily take any questions you may have. Eric, can I? Yep, please, Jill. So how many, if this is not confidential, how many applications did come in for the BD2K SEGs? Confidential. Can't give that kind of... No, no, that's fine, that's fine. Keep in mind that we'll... I figured it might be, but I thought I'd ask anything. Yeah, robust as the word we'll use. Can't give numbers, that would be a level of detail. I'll be coming to this council in May. Any other questions, comments? If not, are we gonna... Oh, I'm sorry, Eric? I just wanna give another shout out to the ENCODE event with the Charge Consortium. And you mentioned that there were 200, there were a little more than 200 people there. And it was really a fine opportunity for ENCODE to expose slash educate the users. And it was also a good opportunity for ENCODE to hear what the community needs are and how the two can basically move this field forward. So I think it was successful both as a tutorial and in terms of planning future research activity. Well, thank you for that feedback. It's not surprising we had started something similar even with NHGRI Consortium, having ENCODE interact with them was very clear that that would be very fruitful interactions. Certainly see the same thing with other tutorials that have taken place at other genomic genetics meetings gatherings. And I think hitting the consortium that you know those connections need to be made makes a lot of sense. But I'm sure they appreciate that feedback. Yeah, I just want to say thank you for the newsletter. I think it's terrific. I enjoy getting it. I don't know if you have any way of knowing who's reading it or how well it's being read. But I appreciate that it takes time and effort. And I think it's valuable. Well, that's good feedback. Thank you. And we know how many people have opted in. I mean, so we have some feedback in terms of that. I've heard from some people that they like that. I mean, that being very useful. It is, it doesn't come easily. I take probably very little credit for it. I've got a great triumphant of staff who do this and various other people in the Institute come up with ideas. And so we have a whole process that's really quickly come together. So it does take some effort. We think it's worthwhile. We enjoy doing it. But we appreciate that feedback. And I really do encourage. We haven't, but I really am sincere when I say if there's particular topics you want to hear about. You know, we think we know what we want to tell, but we also don't know what people want to hear. And so we really are game to suggestions of things to cover. OK, are we going to take a break now? We're going to go. I think we're going to forge through. We're going to forge through. OK, so we're going to change to a different speaker. And we need to flip over the computers, probably the podium. There you go. So I will just make a very brief introduction. I want to point out that it is expected actually that on a regular basis, you know, every year-ish kind of a thing, that every institute with an intramural program brings an update on that program to their advisory council, even though, of course, the real oversight of the intramural program is in the hands of the Institute's Board of Scientific Counselors, not the advisory council. And so we do this on a fairly regular basis. I lost track of it exactly the last time Dan Kastner was here, but I think it was probably when the blue ribbon panel report had been issued. Yeah, it was about a year and four months ago. So about a year and four months ago was the last time. And we timed that to when Dan, I know, is going to talk about the blue ribbon panel report. And we wanted a series of things to sort of happen in the intervening time to make another update. But again, this is just something that we did pretty well. And regularly, I would do when I used to be the scientific director. And it's really just a good chance for council and others listening in to hear what's going on in our intramural program, the part of the Institute that doesn't really get discussed regularly at the council meetings. So Dan Kastner has now been the scientific director for I Can't Do The Arithmetic Well Enough, almost. It's this year, in your fourth year, right? That's right, three and a half years. So I will turn it over to him.