 Okay, well, thank you, Rudy. Once again, I want to welcome all of you to this open session of council, and that includes both those who are gathered here in this room, but also those of you who are joining us remotely by live webcast. And as a reminder, my director's report presentation is being videotaped, and that recording will be made available as a permanent archive on NHGRI's website, genome.gov. And also, as a reminder, we put together a pretty extensive electronic resource associated with my director's report, which we think is analogous to a supplementary materials of a published paper. The way to access this resource is through the URL shown at the bottom of this slide. And the slides that I'll show during director's report are also available electronically at the site. We provide them both in native PowerPoint form as well as in PDF formats. When there are documents or relevant websites associated with a particular slide, you'll find a document number on the bottom right-hand corner. That document number references material that can be accessed and or downloaded from that webpage that's shown here. The entire webpage and all the linked documents will be archived permanently on genome.gov as part of the historic record of this council meeting. There will be a number of other presentations during the open session of this council meeting. In general, we try to tailor my director's report so as to not overly discuss topics that others are going to describe in greater detail. To set the stage for what will follow throughout the rest of this day, immediately after my director's report, councilmember Wendy Chung is going to present a report from a small task force that I convened last year to give the institute feedback and recommendations about our overall extramural training program, and I will introduce this in greater detail when I am done with my director's report. And then after lunch, we have a busy afternoon with a variety of things, starting with three concept clearances that will be presented by staff of the institute's extramural research program. One concept will describe a proposed consortium for understanding the impact of genomic variation on genome function, and will be presented by Mike Payson and Dan Gilchrist. The second concept will describe a proposed developmental genotype tissue expression program, and that will be presented by Joti Dale. And the third concept will describe a proposed advancing genomic medicine research effort and will be presented by Christine Chang. Updates from two council working groups will then follow, one from the genomic medicine working group that will be given by Terry Monoglio, and then one from the genomics and society working group that will be given by councilmember Jeff Botkin. And lastly, in the open session, NHGRI's executive officer, Ellen Roffes, will join me up here at the table. And we will use this open session format of this council meeting to conduct one of two required public hearings about some proposed NHGRI organizational changes. We will provide more details and context about this last atypical agenda item when we get to it later this afternoon. For the rest of my director's report, I will follow these seven major areas which have served us well in past director's reports, getting us through the material we want to cover. And we will start this with some general NHGRI updates. For starters, grants management specialist Diane Patterson retired at the end of 2019 after more than 30 years at NHGRI. She was hired in 1989 when we were the National Center for Human Genome Research and she worked under all five NHGRI directors and acting directors. Diane served as a grants management specialist on many high-profile programs, including the initial human genome sequencing project awards, the large-scale genome sequencing centers, and the initial H3Africa grants. Diane is looking forward to spending more time with family and friends and we wish her all the best in this next phase of her journey. After nine years as a program director in NHGRI's division of genomic medicine, Anastasia Wise has departed the institute to join the All of Us research program. During her time in NHGRI, Anastasia led efforts to advance the application of genomics to medical science and clinical care with a focus on newborn genome sequencing and undiagnosed and rare diseases, in particular in applications in genomic medicine. For the latter, she served as the co-coordinator for the NIH Common Funds Undiagnosed Diseases Network and as a project specialist for the newborn sequencing and genomic medicine and public health or NSITE program. We thank Anastasia for her many contributions to NHGRI and we wish her all the best in her pursuits with the All of Us research program. Switching from departures to arrivals, recently Chris Gunter joined NHGRI as my senior advisor for genomics engagement. In this capacity, she will advise me and the Institute on Issues and Challenges associated with engaging the public about genomics and genomic medicine. In a related aspect of her NHGRI appointment, she will also join the Institute's intramural research program, specifically in the Social Behavioral Research Branch, heading up a new engagement methods unit. In this unit, Chris will continue her research investigating primate social behavior and autism genetics as well as evaluating methods of public engagement and science communication. Chris previously served as a senior editor at Nature, also director of research affairs and a faculty investigator at the Hudson Alpha Institute of Biotechnology and most recently as an associate professor in the departments of Pediatrics and Human Genetics at Emory University School of Medicine. And then, as you just heard and you saw some of these folks stand up in the back, there's been three recent staff additions to NHGRI's extramural research program. Just briefly to go through them, Stephanie Morris, a new program director in the Division of Genome Sciences. She's managing a portfolio of grants and working on initiatives related to technology development and functional genomics. Her scientific background is in epigenetics and gene expression, having worked previously as you heard at the National Cancer Institute and then more recently at the NIH office of the director as a member of the leadership team for the Common Fund's Molecular Transducers of Physical Activity and Humans Program and the Sematic Cell Genome Editing Program. Luis Cubano is the new lead extramural training program director with particular interest in increasing the diversity of the biomedical workforce. And as you heard before coming to NIH, Luis was a professor and associate dean for research and graduate studies at a medical school in Puerto Rico and then most recently he was a program officer at the National Institute of General Medical Sciences where he managed a various research training and diversity programs. And finally, Jennifer Strausberger has joined NHGRI as you heard in this dual role as genomic program administrator and program director. Importantly, she's going to be the point person for ensuring that the institute is in compliance with NIH's and NHGRI's genomic data sharing policies. And previously she had come from NCI, both including programmatic responsibilities and then prior to that within their intramural research program. So those are our new additions. There's also been some honors for some of our extramural staff. Ken Wiley, program director and NHGRI's Division of Genomic Medicine has been awarded the Harold D. West PhD Distinguished Biomedical Science Award. This award is presented to an alumnus of the Meharry Medical College School of Graduate Studies and Research in recognition of their outstanding long-term contributions in biomedical science research. Recipients of this accolade have not only demonstrated reputable accomplishment scientifically but have also made significant and meaningful progress in the highest ethical principles of biomedical conduct. So congratulations to Ken. NHGRI's genomic 2020 strategic planning process continues to move forward and route to developing the institute's new strategic plan, which will be published in October of this year. Recent strategic planning events have included an equity diversity and data science and genomics workshop, a genomics in medicine and health workshop, a workshop on integrating the past and future of ELSI research at the American Society of Bioethics and Humanities Annual Meeting, an NHGRI-NIMH strategic planning session at the World Congress of Psychiatric Genetics, and two genomic data science virtual town halls. Now, meanwhile, on April 20th to 22nd, we will hold our genomics 2020 strategic planning finale meeting in Bethesda, Maryland, and a live video cast of the plenary sessions of this finale meeting will be available on NHGRI's Genome TV. Moving on then to some general NIH updates, starting with a familiar face to this council because as recently as September of last year, this gentleman sat around this table, but he has subsequently moved on from his position and therefore had a rotate off of council because two weeks ago, Josh Denney started at NIH in his new role as the chief executive officer or CEO of the All of Us Research Program. Now, Josh has been a major grantee for a number of programs, including Emerge and Ignite, and of course, as a former member of this council. And concurrent with Josh's new appointment, there have been some other changes at the leadership level of all of us. Stephanie Devaney became the program's chief operating officer, and Eric Dishman became the program's chief innovation officer. NHGRI looks forward to continued and productive scientific interactions with the All of Us Research Program in general and with this new leadership team in particular. As an aside, in addition to serving as the All of Us CEO, Josh's research group, his own personal research group, will be joining the NHGRI Intramural Research Program later this year. John Nagai has been named the director of NIH's Brain Research through Advancing Innovative Neurotechnologies or Brain Initiative. The Brain Initiative aims to revolutionize our understanding of the brain and brain disorders. John will join the NIH in March, at which time he will oversee the long-term strategy and day-to-day operations of the Brain Initiative as it moves to implement its next five-year plan, which was released a few months ago. Seth Aramman, Panjian Anathan, has been nominated by President Trump to be the next director of the National Science Foundation. He currently serves as the executive vice president and chief innovation officer at Arizona State University and is a member of the National Science Board, which oversees the National Science Foundation. He will succeed Franz Cordova, whose six-year term comes to an end later this year. Now, you may recall that National Cancer Institute director Ned Sharpless was asked to serve as acting commissioner of the U.S. Food and Drug Administration, or FDA, after Scott Gottlieb resigned in early 2019. So Ned was essentially on loan to the FDA until a new commissioner was appointed. That has now happened with physician scientist Stephen Hahn, now in place as the new FDA commissioner. So as such, Ned has now boomeranged back to NIH and is back in his role as the National Cancer Institute director. At the end of last month, Martha Summerman retired as director of the National Institute of Dental and Craneo-Facial Research, or NIDCR. Martha has been a leader in research that defines the factors that modulate formation of dental, oral, and craniofacial tissues. In 2016, she launched NIDCR's 2030, which envisions a future in which dental, oral, and craniofacial health and disease are understood in the context of the whole body. She also made it a priority to improve the oral health of the nation through her commitment to overcoming health inequity and advancing public health initiatives. While no longer serving as NIDCR director, Martha will remain at NIH as the chief of the Laboratory of Oral Connective Tissue Biology at the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Meanwhile, Larry Tabak, currently the NIH principal deputy director and actually a previous NIDCR director, will now serve as the acting NIDCR director while the search for a permanent director is conducted. In recent years, NIH has been soliciting input in a variety of ways about the development of a new policy regarding the management and sharing of scientific data. In November, NIH put fingers to the keyboard and developed a draft NIH policy for data management and sharing, which is intended to replace the 2003 NIH data sharing policy. Now the draft NIH policy proposes that researchers tell NIH how they plan to manage and share data emanating from their studies. Importantly, all data must be managed, but not all data necessarily needs to be shared. NIH put out a request for information to seek public comment on the proposed policy provisions and required elements for data management and sharing plans. In the comment period for this closed on January 10th, NHGRI has been following these policy developments closely and expects that a final policy bill released later this year with the new policy likely becoming effective in a couple of years. Since the September Council meeting, a fiscal year 2020 budget has been enacted, giving NIH and NHGRI its appropriation for the year. Specifically on December 20th, 2019, a package containing eight spending bills was signed into law. The so-called Further Consolidated Appropriations Act of 2020 funds the Department of Health and Human Services, including NIH. The 2020 budget brought increased funding levels for both NIH and NHGRI for the fiscal year that ends on September 30th. NIH's fiscal year 2020 appropriation is associated with an approximately $2.6 billion increase over fiscal year 2019, as seen in the second column from the right on this slide. Now of that, NHGRI received an approximately $29 million increase, bringing the Institute's overall budget to about $604 million. As seen in the far right column, NIH's overall increase was about 6.6 percent, while NHGRI's increase was about 5 percent. Moving on then to some general genomics updates. And sadly, molecular biologist and plant geneticist, Joe Messing, a key contributor to the development of shotgun DNA sequencing, passed away last September. Joe spearheaded several large DNA sequencing initiatives, projects that contributed to the understanding of the genetics of corn, rice, sorghum, and other crops. He was consistent in not patenting his work, always wanting to give away the tools he invented to enable researchers worldwide. Also, the research community recently lost another legend, David Hognis, whose experiments bridged the gap between molecular biology and genetics and were foundational to the field of molecular biology and developmental biology. David's approaches allowed researchers for the first time to identify the position of particular genes along chromosomes and to begin to understand how mutations in key genes affect the embryonic development of the fruit fly. I'll go off script from it and actually tell you a personal anecdote about David. I actually only met him once. He was sort of the consummate, basic scientist, developmental biologist. But the one encounter I had with him, I think in many ways captures some important history about the human genome project and also personal history of mine. So the year was 1989. I was a postdoctoral fellow in Maynard Olson's laboratory applying for postdoctoral fellowships. One of the fellowships I applied for was a Helen Hay Whitney fellowship, of which David served on their advisory and selection committee, I think for decades. He was very tightly associated with the Helen Hay Whitney fellowship program. I was selected to go for an interview, which meant I flew out to Stanford and you had a one hour interview with a member of the committee or wherever you assigned which person you were going to interview with. And that was sort of the interview process. And so I flew out to Stanford and I'd heard of David, knew of his work, had never met him. And keep in mind, as you might imagine, I was a postdoc. I made it all say a year before the Human Genome Project started, my postdoctoral proposal, research proposal, was all about the Human Genome Project. It was about, you know, these things called YACS, you remember that, and STS, the Sequence Tax Sites. And it was building maps and basically what we had proposed at Washington University for the first center that was an application that was in at the time to start the Human Genome Project. And it turned into be a one hour debate, a very healthy collegial debate. But as a very, it was sort of a prototypic basic scientist who wondered about this large science, he wondered about two things. One about the scientific enterprises, big science going to be dangerous for the small labs kind of thing. And Genome Project at the time was just so controversial and he was just very honest about what his concerns were. And then similarly, the other half of the debate were concerns about me, where he literally said, are you sure you're going to, you'll never get a job, are you worried about what you'll do at the other end of this? And we just had a really good, genuine, friendly debate. And it was very clear, I so much remember the reservations he had about the project at the time, both with respect to how it might influence science, but also how it might influence people like me who are being drawn into it and whether that was a good thing or a bad thing. At the end of the hour interview, he says, I think you've convinced me. And I did get the fellowship. So I must have at least gotten part of the way to convincing him. But I just think it was a vivid illustration. And actually, to this day, it was the only time I ever met him. But I do think maybe we convinced at least one basic scientist at the time. This was a good thing. And I always appreciated the frankness with which we sort of had that conversation for an hour. So that's my off script anecdote, but it's good for the history books. Also, finally, in sad news from last week, actually, Phil Lieder, who was among the world's most accomplished molecular geneticists, has passed away. Phil's work with Marshall Nuremberg, namely the famed Nuremberg and Lieder experiments that started actually in the NIH Intramural Research Program in 1964, definitively elucidated the triplet nature of the genetic code and culminated in the code's full deciphering. This pioneering work helps set the stage for the revolution of molecular genetics research that Phil himself would continue to lead for the next three decades. Phil's remarkable scientific career at NIH and later at Harvard brought forth breakthroughs in genetic engineering, immunology, and cancer research. The American Society for Human Genetics gave awards to five members of the genomics community at its 2019 annual meeting. Stylianos and Tonerakis received the Allen, the William Allen Award, which recognized as scientists for substantial and far-reaching scientific contributions to human genetics. A member of our Intramural Research Program, Charles Ritimi and also Sarah Tishkoff, received the Kurt Stern Award, which recognizes genetics and genomics researchers who have made significant scientific contributions during the past decade. Huda Zagbi received the Victor Amy Kusich Leadership Award, which recognizes individuals who have fostered and enriched the development of human genetics and its assimilation into the broader context of science, medicine, and health. And always fun to be able to acknowledge a member of our council, last but by no means least, our own council member, Hal Dietz, received the Mentorship Award, which recognizes genetic and genomic researchers who have made significant records of accomplishments as mentors. So congratulations to all of them, congratulations, Hal. And it even happens to former council members, good things. A former council member, Dan Rodin, recently received two prestigious awards. First, Dan was awarded the J. and Jeanne Schottenstein Prize in Cardiovascular Sciences, which was awarded by Ohio State University and provides national and international recognition and support to those at the forefront of cardiovascular sciences. Second, Dan received the Oscar B. Hunter Career Award in therapeutics, which is given by the American Society for Clinical Pharmacology and Therapeutics to those who have made significant contributions to the fields of clinical pharmacology and translational medicine. The National Academy of Medicine recently announced the election of new members of particular relevance to the genomics community, to NIH, and to NHGRI, are the individuals listed here. We extend our heartfelt congratulations to these individuals, including one from our own intramural program, Julie Segre, who I'll have more to say about later in my director's report. Similarly, an impressive and familiar pair of names emerged recently as electees to be fellows for the American Association of the Advancement of Sciences, specifically Gary Churchill and Shirley Tillman, and congratulations to both of them. The International Common Disease Alliance, or ICDA, was launched last year with the goal of improving prevention, diagnosis, and treatment of common diseases by accelerating discovery from genetic maps to biological mechanisms to physiology and medicine. Shown here are the attendees of the ICDA Scientific Plenary and Launch Meeting, which was co-hosted by NIH and held last September in Maryland. The meeting included stakeholders across academia, biopharma, technology companies, and funding agencies. The event featured state-of-the-science talks, as well as discussions on how to develop and implement projects and strategies to accomplish the ICDA's goals. An NIH panel that included Francis Collins and me and several other institute directors discussed connections between ICDA and NIH plans for studying common diseases. A key outcome from the Scientific Plenary and Launch Meeting was the development of a white paper that provides a framework for the next phase of human genetics and genomics research related to common diseases. The draft version of the white paper, which was discussed at the workshop, is actually available on the ICDA website. And a more formalized version of the white paper, including more detailed recommendations, is expected in the coming months. And the next ICDA meeting will be held March 9th and 10th of this year in Copenhagen. Moving on to year-end accolades, the Genomic Medicine Working Group of this council recently published a year-in-review 2019 in the American Journal of Human Genetics. The article highlights 10 studies published in 2019 that report significant advances in genomic medicine. Three genomics-related efforts were named Sciences 2019 Breakthrough of the Year Runners Up. These included using proteomic and epigenomic information to recreate ancient faces, genomic analysis of a missing link microbe, and a treatment for cystic fibrosis that corrects the effects of the most common mutation causing the disease. And then meanwhile, the scientists, top technical advances of 2019 included artificial intelligence, tackles live science, gene editing, spies on cells, DNA on a chip, and a boost for CRISPR accuracy. And speaking of CRISPR, nature went a step further, declaring the CRISPR-Cas9 gene editing system as one of the scientific events that shaped the 1990s as a decade. And my director's report would never be complete if we didn't give you some insights about the recently generated genome sequences from critters of across the various parts of the tree of life. Those since the last council meeting included Puma, the Atlantic Herring, the Devil Worm, the Water Lily, the Red Pineapple, the Extinct Carolina Parakeet, Commercial Sugarcane, Foxtail Millet, not one, but 19 different penguin genomes, the Indian Cobra, and the Giant Squid. So moving on then to the extramural research program of this institute. And we will start with our genome sequencing program, GSP, which aims to use genome sequencing to identify genes and genomic variants underlying human diseases. Now, one of GSP's components is the Centers for Common Disease Genomics, or CCDGs. The CCDGs aim to discover the genomic architecture of common complex diseases by using large-scale genome and exome sequencing. To date, the CCDGs have sequenced about 108 whole genomes shown on the top graph, and about 137 exomes shown on the bottom graph. And this has been performed across three different disease areas, cardiovascular, immune-mediated, and neuropsychiatric. The groups project that they will generate approximately 141,000 whole genome sequences and 212,000 exome sequences by the end of 2020. Another component of the program are the analysis centers, and GSP analysis centers develop new methods and tools to analyze data produced by the sequencing centers. And to date, the analysis centers have published 68 papers, two of which were published since the last council meeting and warrant further highlighting. This group of investigators screened the electronic health records of the New York City Biomy Biobank to assess the prevalence of BRCA1 and BRCA2 founder variants. Using self-reported and genetic ancestry, the group discovered that non-European participants were more likely to harbor BRCA variants that are not represented in the ClinVar database or were recorded but classified as uncertain or conflicting pathogenicity. 45% of the affected individuals had personal family histories of breast cancer, but those with Ashkenazi-Jewish ancestry variants were twice as likely to have undergone genetic testing than those without Ashkenazi-Jewish heritage. The study illuminates a gap in knowledge for BRCA variants in non-European populations and a need for genetic screening across diverse populations to identify those at risk. Then this set of investigators developed a statistical bootstrap method that can be used to test the fit and model produced by a network. This method can compare multiple networks and quantify their similarities or differences which will allow users to pick the best network for their genomic analyses. Another component of GSP is the Centers for Mendelian Genomics or CMGs. To date, the CMGs have obtained samples for over 61,000 participants and have identified many genomic variants implicated in Mendelian diseases. Using conservative tier one criteria, the CMGs have classified 3048 candidate genomic variants in rare Mendelian disorders. Under their suggestive or tier two criteria, they've identified an additional 1595 genomic variants. Of these discoveries, approximately 2,800 are novel as shown on this graphic. Now, in a related fashion, NHGRI has issued two funding announcements for Mendelian Genomics Research Consortium. The Institute intends to fund research centers that will discover novel associations in Mendelian conditions as well as develop and apply approaches to discover causal variants in known Mendelian conditions for which a candidate gene has not been identified by whole exome sequencing. NHGRI will also fund a data coordination center that will manage data release and disseminate findings, coordinate program logistics and administrative duties and oversee an opportunity fund to follow up functional studies of discoveries made by the research centers. Applications for the research centers and data coordination center are due on April 15th and there will also be a pre-application webinar later this week, specifically on February 12th. The Human Genome Reference Program represents NHGRI's continued commitment to refining and maintaining the Human Genome Reference Sequence. Specifically, the Institute is expanding its contribution to this reference by establishing a multi-component program aiming to enable an improved Human Genome Reference Sequence for the research community and to foster its long-term sustainability and improvement. Awards that support the work of two centers were made this past fall. First, a Human Genome Reference Center at Washington University will serve as the coordinating center. This center will maintain and update the reference sequence, support state-of-the-art reference representations and educate and coordinate with the research community, including clinicians and basic research scientists. Second, a high-quality Human Reference Genomics Center at the University of California, Santa Cruz will collect additional DNA samples from populations not represented in the current Human Genome Reference, including the creation of cell lines. The center will generate at least 350 high-quality reference genome sequences and complete telomere-to-telomere Human Genome Sequences. They will also disseminate the data and work closely with the other components of the program. Working groups of the Human Genome Reference Program have begun meeting to discuss sample selection, sequence production, and assembly protocols. An HGRI's Technology Development Program continues to develop new and improved technologies to enable genomic discoveries and facilitate the adoption of genomics in medicine. A novel Nucleic Acid Sequencing Technology Development request for applications, or RFA, listed here, has an upcoming due date of June 26th. And an Advanced Genomic Technology Development Meeting will again be held this year at Northeastern University in May. Novel Nucleic Acid Sequencing and Genomic Technology Grantees from the program will meet on May 27th and 28th while an adjacent public session will be held on May 29th for the broader community participation and for interaction with NHGRI staff. We would like to bring to your attention a recent paper from two current NHGRI Technology Development Program grantees, Mark Ackerson and Winston Tim. This paper reports the direct sequencing of 9.9 million RNAs from a human cell line using nanopore technologies that directly emanate from NHGRI's Longstanding Technology Development Program and its focus on nucleic acid sequencing. Among a broad set of findings, these investigators were able to identify nearly 3,400 RNA isoforms, of which 56% were unannotated, to sequence additional bases of M6 adenine and NFC and to directly count polyatel lengths. The work represents findings of our most recent, or really our findings are our most recent focus on sequencing RNA and modified bases directly. Moving on then to our Encyclopedia of DNA Elements or ENCODE Program or Project. And ENCODE aims to create catalogs of all functional elements in the human and mouse genomes and to make those catalogs freely available as a resource to the biomedical community. ENCODE holds hands-on jamboree meetings to bring together junior and senior scientists across the consortium to complete various analysis projects, Duke University hosted the most recent jamboree meeting in October of 2019, which culminated with a symposium that allowed for participants to share recent progress. And then the ENCODE Consortium held its annual meeting in December of last year at Asilomar and Pacific Grove, California. The meeting featured discussions on consortium interactions, challenges and goals for the ENCODE program and resources. And for the first time, the ENCODE meeting featured a keynote speaker, Alex Stark of the Research Institute of Molecular Pathology in Vienna, who shared his work on functional characterization of transcriptional regulatory elements. Also at this meeting, this consortium took the institute to a place it had never been. Normally, when we take photographs of meeting participants, we have a photographer get up on a ladder and shoot a picture. They actually had a drone. And both of these photos were taken with a drone. I won't say who the grantee is, but somebody travels with a drone and has it now available for our meetings. So this is gonna, we're gonna see other consortia have to ratchet it up and their photos now that drones have been implemented as a means of capturing history of some of our important workshops. Meanwhile, the first European ENCODE users and applications meeting will be held in Barcelona, Spain in October of 2020. These outreach meetings are open to the scientific community to help scientists outside of ENCODE make use of ENCODE data and resources. And with this upcoming meeting, the ENCODE consortium looks forward to increasing interactions with a broader audience in Europe. And so more information about this meeting will be forthcoming. And maybe they'll take pictures with the International Space Station. User interface, user experience and data visualization continue to be areas of interest to maximize the ease of use of the ENCODE resource developed and maintained by the ENCODE data coordinating center. The ENCODE portal serves as an access point for all ENCODE and ENCODE associated data, metadata and program information. The portal is regularly updated to help improve its effectiveness. Now, recent updates to the ENCODE portal have included a release of various data collections shown here as a particular matrix for visualizing NTEX data, a collaboration between the ENCODE and the GTEX projects that reflect data generated with 30 tissues and organs for four different individuals. Another recent addition of the portal is a genome browser that allows users to view multiple data tracks for a particular gene locus or a genomic region of interest. The browser automatically shows all available experimental information for a particular region but can be customized using specific filters for things like file format and for output or for replicate number. Moving on to the Centers of Excellence on Genomic Science or SEGS program which supports interdisciplinary research teams that develop highly innovative approaches in genomics research. Now, the fiscal year 2020 appropriation for NHGRI includes $10 million for a new competitively awarded center-based grant program for emerging Centers of Excellence. The purpose of these grants will be to build capacity at institutions that are not prior or current grantees of the SEGS program. As a result, NHGRI has issued a notice of change to amend the original program announcement for the SEGS program. We also updated the selection criteria to clarify that we would consider applications from institutions that have not previously been SEGS awardees as part of the program balance criterion when making funding decisions. Also, a new receipt date was added, specifically March 26th, 2020 to enable NHGRI to fund such new grants in fiscal year 2020. The SEGS program will continue to encourage submission of outstanding and innovative applications from all eligible institutions and the other receipt dates in May of 2020 and May of 2021 will not change. The Electronic Medical Records and Genomics or Emerge Network conducts genomic discovery and clinical implementation research by leveraging data from large repositories linked to electronic medical records. A challenge with implementing genomic medicine is the ability to coordinate and deliver data from heterogeneous and geographically diffuse sources to physicians and patients. One such problem relates to genomic testing results which currently exist in non-structured PDF formats that are not easily shareable across sources. The Emerge Network recently published their lessons learned in a novel approach for effectively sharing genomic test results in the paper shown here. The consortium coordinated the sharing of germline genomic tests for 25,000 patients across two clinical genomics testing laboratories and 11 clinical sites. Many aspects such as sample collection, data generation, interpretation, reporting, delivery and storage were harmonized across the multi-site network. A particularly important solution was the use of harmonized DNA capture panels and the use of structured extensible markup language or XML schema for genomic test results. This offers flexibility for manipulating and updating diverse information in the electronic health record. The results of this effort are helping to define a fast healthcare interoperability resources or FHIR standard for genomic test results which will enable the use of genomics and clinical decision support and foster broader adoption. The clinical genome resource or ClinGen evaluates and disseminates the clinical relevance of genes and genomic variants for use in precision medicine and research. And ClinGen reached an important milestone last fall as they grew to over 1,000 investigators participating in this community resource with representation from 30 countries highlighted in dark blue on this world map. Now these experts are curating the clinical relevance of genes and genomic variants for over 40 genetic conditions with the impressive list of conditions presented here in alphabetical order. Generally speaking, these conditions cover major disease areas such as cardiovascular disease, hereditary cancer, inborn errors in metabolism and platelet disorders. In November of 2019, the American College of Medical Genetics and Genomics or ACMG and ClinGen released a new consensus recommendation to guide the evaluation of constitutional copy number variants or CNVs. This recommendation reflects the four year effort of their joint working group to evaluate the existing ACMG clinical laboratory practice standards for evaluating CNVs. Now CNV interpretation will now leverage the same five-tier system used in sequence variant classification, specifically pathogenic, likely pathogenic, uncertain significance, likely benign and benign. Harmonizing copy number and sequence variant terminology is important as the identification and classification of both types of variants within a single platform becomes more commonplace. Last month, ClinGen began hosting a multi-part web series to educate the community about these guidelines. To learn more about these webinars, you can click on the CNV image on the ClinGen website shown here. Now two publications describing ClinGen's efforts in cancer genomic variant curation were published in October of 2019. First, ClinGen investigators, including Council Member Sharon Plon, provided an overview of ClinGen hereditary and somatic cancer curation expert panels in the journal Molecular Case Studies. Second, ClinGen myeloid malignancy curation expert panel published recommendations for curating germline rungs X1 variants in the journal Blood Advances. Now inherited rungs X1 mutations are responsible for familial platelet disorders with associated myeloid malignancies. This particular expert panel is the result of funding and a strong collaboration with the American Society of Fematology. Now actually related to this, NHGRI's deputy scientific director in our intramural program, Paul Liu, and his research group actively work on rungs X1 and have launched a longitudinal study to characterize the etiology and natural history of patients with mutations in this gene. At the recent NHGRI annual symposium, Paul and colleagues led an informative and moving session with a patient harboring such mutations and her husband, reminding us how important it is to improve our understanding of the known and yet to be discovered mutations in this gene. The clinical sequencing evidence generating research program or CSER aims to generate evidence related to the clinical utility of genome sequencing with a major emphasis on participant diversity and engagement. In September, the UCSF program in prenatal and pediatric genome sequencing study published a paper examining 14 payers perspectives on insurance coverage for pediatric and prenatal exome sequencing. The study found that 71% of payers cover pediatric exome sequencing despite perceived insufficient evidence because it can lead to a diagnosis and or intervention. No payers are currently covering prenatal exome sequencing due to a perceived lack of merit. CSER investigators presented 12 posters of the 2019 American Society of Human Genetics meeting in October. A poster from Baylor's Kids Can Seek Study showed that in settings with study materials in both English and Spanish, language did not make a significant difference in staffing requirements nor parental time commitment to complete enrollment, with respect to the time required to complete the informed consent process. Also in October, the Washington Post published a story on the Vega family whose daughter was enrolled in Hudson Alpha's South Seek Study. In this case, the healthcare providers could not reconcile her nondescript symptoms with one specific condition until she received whole exome sequencing through CSER. Researchers were then able to identify mutation in the daughter's MECP2 gene and subsequently diagnosed her with RET syndrome. The family has been involved with CSER's stakeholder engagement working group and attended the 2018 in-person CSER meeting. In September 2018, NHGRI established the analysis, visualization and informatics lab space, or ANVIL. ANVIL is a cloud-based infrastructure and software platform that provides a shared analysis and computing environment as part of a federated genomic data commons ecosystem. Now to aid in the development of an interoperable trans-NIH data ecosystem for cloud-based resources, the ANVIL team, along with representatives from other NIH-funded cloud-based platforms, helped to organize and participate in an NIH workshop on cloud-based platforms and their interoperability, which focused on ways to improve the user experience across cloud-based resources. Now outcomes from this workshop include the development and implementation of several use cases to demonstrate interoperability among two or more of the NIH-funded cloud resources. ANVIL is also participating in the NIH's Office of Data Science Strategy efforts to develop and implement the research, authentication and authorization service, or RAS. The goal of RAS is to develop a unified, efficient and secure authentication and authorization service for research or access to cloud data. And finally, ANVIL has upcoming plans to host data sets from the CSER Consortium and the Emerge Network beginning later in 2020. And related news at the Data Science front. In January, NIH released two funding opportunity announcements or FOAs supporting biomedical data resources, specifically for data repositories and for knowledge bases. As detailed in the 2018 NIH Strategic Plan for Data Science, data repositories and knowledge bases have different functions and metrics for success and sustainability. Therefore, the funding strategies, review criteria and management of these two types of data resources should be different. NHGRI announced its participation in these FOAs through a notice of special interests, which described the institute's interest in applications using state-of-the-art and cost-effective technologies and approaches, and with demonstrated high value to the broader genomics research community. Applications for data resources supporting genomics research involving a particular disease or an organ system as well as microbial and microbiome databases will not be supported by NHGRI and should be directed to a more appropriate NIH Institute or Center. The first due date for these FOAs is in September of this year. Meanwhile, NHGRI renewed its funding announcement for genomic community resources with the next due date being in May of this year. The sixth I-DASH Genomic Privacy Challenge was held in October of last year at Indiana University, which has a leading program in secure computing and cybersecurity. The competition has now grown to include 105 registered teams from around the world. The I-DASH Genomic Privacy Challenge brings together leaders in biomedical informatics, computer science, and cryptography to test cutting-edge solutions to analyze and share sensitive data while preserving privacy. This year, the four challenge tasks included secure genotype imputation using homomorphic encryption, secure training of machine learning models among collaborators, shared gene-drug interaction data with blockchain, and deep learning as a service using secure hardware with specialized chips. With increased speed and scale, these approaches are being adopted in the commercial realm, including by NHGRI-funded small businesses, to meet the challenges of new privacy regulations in Europe, such as the General Data Protection Regulation, or GDPR, and in the United States, the state-level leading to possible federal law. The Ethical, Legal, and Social Implications, or LC Research Program, supports research that anticipates, explores, and addresses implications of genomics for individuals and families and communities. Of relevance to NHGRI's LC Research Program, there's a recently released Funding Opportunity Announcement from the NIH Office of the Director. Specifically, the NIH Office of Data Science has announced a funding opportunity for administrative supplements to support research on bioethics issues. Applications may propose to supplement parent awards focused on bioethics, or to add a bioethics-related component to a parent award where bioethics was not a focus. Specific areas of research interest can be found online in the FOA, and applications are due on March 20th of this year. And planning is in progress for the fifth LC Congress, which will provide an opportunity for multidisciplinary LC researchers to gather, share their work, and learn about other research in the field. The fifth LC Congress will be held June 15th to 17th at Columbia University in New York City. Plenary session topics include a look at the past, present, and future of LC research and genomics, CRISPR and gene editing, research collaboration with indigenous communities, and polygenic risk scores. Abstracts were due in December, and 229 abstracts were submitted by researchers, scholars, and students from 74 institutions and 19 countries. The full conference schedule will be released later in the spring. Moving on to our Small Business Innovation Research, or SBIR, and Small Business Technology Transfer, or STTR programs, both of which continue to thrive. In total, the Institute funded approximately $15 million in Small Business Grants in fiscal year 2019. These recent SBIR and STTR grants included 19 phase one proof of principal awards and 11 phase two pre-commercialization awards. Of note, there are new phase two awards supporting work at six different companies, UltimoGenomics to develop a new DNA sequencing platform, Electronic Biosciences to innovate Nanopore exonuclease-based DNA sequencing, Arama Genomics to develop a high C analysis service, Chromated for commercializing whole genome chromosome painting, Active Motif for developing multiplex chip seek technology, and somagenics to commercialize kits for accurate single cell small RNA sequencing. And we can tell you that these Small Business Grants are drawn from an increasingly strong application pool. Meanwhile, the mission of NHGRI's Extramural Research and Career Development program is to prepare a diverse and talented genomics workforce that is operating at the forefront of genomics in order to accelerate scientific and medical breakthroughs to improve human health. Now, NHGRI's Longstanding Diversity Action Plan, or DAP program, has been reissued as a program announcement for another three years. The Institute's DAP program seeks to expose undergraduate minority students to genomics research. There are now 14 programs supported by the DAP as NHGRI continues its longstanding commitment to increasing the diversity of the genomics workforce through this important program. Much of the program remains the same, being executed under the R25 mechanism with budget requests that can be up to $300,000 direct cost per year for up to five years. One change is shifting to one annual receipt date per year of January 25th, both for new and renewal applications. And the primary change to the program is implementing new reporting requirements using standard NIH training forms and tables. This includes participant appointment forms, a participant outcomes table for long-term tracking, and two tables providing information on faculty. The set of standardized information will help to improve review of individual applications in annual reports, as well as the ability to conduct outcome analyses of this program. NHGRI supports the development of resources, approaches and technologies that will accelerate the genomics research described in our current 2011 and our upcoming 2020 strategic plans. We recognize that the Institute is known for funding consortia-based projects and cooperative agreements, but at the same time we want to emphasize that we also welcome novel and innovative investigator-initiated applications that follow the NIH standard schedule for submission, review and award for R01, R21 and R03 applications established for the parent announcements. Investigators are encouraged to reach out to program staff during the development of an application to ensure that it aligns with NHGRI strategic priorities. And we encourage you to visit our website to learn more about funding opportunities and to be directed to appropriate staff members for discussing your application ideas. In a related fashion, I would like to briefly highlight some publications deriving from NHGRI's investigator-initiated research portfolio. In this paper, PhysBind et al. described exomediated activation of transcription starts, a newly discovered phenomenon affecting transcription in which the splicing of internal exons impact promoter choice and gene expression levels. The primary finding is that the splicing results in a concurrent gain of new transcription start sites for neighboring genes and an increase in gene expression. This paper found that inhibition of splicing was associated with reduced transcription from nearby promoters. Conversely, creation of newly spliced exons activated transcription from cryptic promoters. In another paper, Bogart et al. found that alternative polyadenylation is a major source of transcript diversity in human cells. Alternative polyadenylation is regulated by local sequence elements and by RNA binding proteins that recognize those sequences. In this paper, these investigators use deep learning approaches to develop a generalizable model for alternative polyadenylation using over 3 million synthetic polyadenylated reporter genes. This model can accurately predict cleavage site across multiple cell and tissue types using DNA sequence alone and can be used to evaluate the impact of specific genomic variants on alternative polyadenylation. This work represents an advance of our understanding of how genomic variants in key regulatory regions may contribute to disease. And then in this paper, council member Wendy Chung and colleagues describe the health care system's duty to reinterpret genomic variants when more reliable data become available. The paper describes the four elements of the proposed ethical duty, that is data storage, initiation of reinterpretation, conduct of reinterpretation, and patient recontact. The authors also identify the parties who are best situated to implement each of those components. And Wendy and her colleagues were also recently involved in leading the publication of a series of cases in precision medicine articles in the annals of internal medicine. The series included an overview followed by eight case studies of specific precision medicine scenarios relevant to a wide variety of conditions. And their most recent paper describes how germline and somatic genomic testing is being used for the prevention and treatment of breast cancer. So moving on from the Institute's Extramural Research Program to the NIH Common Fund and other trans-NIH efforts. Starting with the Library of Integrated Network-Based Cellular Signatures, or LINX program, which is a common fund program intended to create a network-based understanding of biology by cataloging changes in gene expression and other cellular processes. LINX uses computational tools to integrate this diverse information for the development of new biomarkers and therapeutics. LINX has seen its data citations and usage continue to grow. And the figure shown here represents the number of publications that have utilized LINX data over the past six years, totaling over 4,200 citations since 2014. The Common Fund plans to retain LINX resources and data after the program concludes through a new Common Fund data ecosystem. And the LINX program is approaching completion and will be holding its final symposium at NIH in May of this year, which will highlight LINX achievements over the past 10 years. Presentations will include biological insights from perturbation-based experiments in cell biology and drug discovery by LINX and LINX investigators, including those in academia and industry. Another NIH Common Fund program is human heredity in health in Africa, or H3Africa, which aims to develop a sustainable and collaborative African genomics research enterprise. Now in its eighth year of NIH Common Fund support, H3Africa supports 51 projects across 34 African countries, as shown on the left, and involves over 70,000 research participants. Additionally, H3Africa investigators have generated over 350 publications to date, as shown on the graph on the right. Now the 15th H3Africa meeting will be held in Nairobi, Kenya in March, and will run back to back with a workshop on library science in Africa, cosponsored by the Common Fund, the National Library of Medicine, and H3Africa. Last October, H3Africa was prominently featured at the 2019 ASHG annual meeting, where H3 Investigator Neil Hanshard delivered one of the opening plenary talks. Neil described the initial results of H3Africa's groundbreaking efforts to sequence hundreds of African genomes, highlighting the wide-ranging implications that these results will have on both basic genomics research and genomic medicine in Africa. The presentation received attention from numerous press outlets. Looking towards the future of global health, particularly in Africa, the NIH Common Fund recently announced a new program, Harnessing Data Science for Health Discovery and Innovation in Africa, or DSI Africa. Being led by the four Institute and Center Directors listed here, DSI Africa builds upon the successes of and lessons learned from H3Africa, aiming to develop, adapt, and innovate techniques of data science to address some of the most compelling problems in global health with a focus on Africa. Shown here are the envisioned deliverables of the program. For example, the program aims to develop recognized centers of excellence in data science that both increase research capacity and improve health in Africa, while also developing advances in data usage and sharing practices that are specific for the African research context. I can tell you that NHGRI plans to participate in the new program and looks forward to continuing to support the development of research capacity on the African continent. The NIH Common Fund's Undiagnosed Diseases Network, or UDN, aims to improve the level of diagnosis and care for patients with undiagnosed diseases, facilitate research into the etiology of these disorders, and promote an integrated and collaborative community to investigate these difficult and diagnosed diseases. With growing evidence supporting the use of exome sequencing for patients with a suspected genetic disorder, private payers may be reluctant to cover these costs for a variety of reasons. Recently, the program's investigators published an analysis of 66 UDN participants that faced insurance coverage barriers for exome sequencing. 67% of the study participants had a public insurance policy and 26% had a private insurance policy. 64% of the study participants had a documented denial of exome sequencing, 29% had a policy where the payer is known not to cover exome sequencing, and 8% had a previous denial or genetic test, of a genetic test. So 35% of study participants received a diagnosis through UDN and 61% of those diagnoses resulted in clinical actions, supporting that exome sequencing has value as a covered benefit for patients who remain undiagnosed. In short, exome sequencing early in the diagnostic process can shorten the diagnostic odyssey and improve the efficiency of clinical evaluations. HubMap is the NIH Common Fund program that's currently in its second year that aims to catalyze the development of an open global framework for comprehensively mapping the human body at cellular resolution. HubMap investigators will lead to better understanding of the significance of inter-individual variability, changes across the lifespan tissue engineering and the emergence of disease at the biomolecular level. In October of last year, HubMap Consortium published a marker paper in Nature, which provides an overview of the program's purpose scope structural organization and data sharing policies. HubMap is gearing up for its first data release in the fall of this year. Comprehensive metadata will cover all aspects of labeling and providence, including de-identified donor information, details of tissue processing and protocols, data levels, and processing pipelines. And finally, HubMap, in collaboration with other NIH programs, will hold a joint meeting with the Human Cell Atlas, or ACA, this spring, specifically March 30th until April 1st, and the meeting aims to encourage sharing of best practices and build a stronger international ecosystem for single cell biology. And the Common Fund recently announced two new funding opportunities for HubMap, the goal of the transformative technology development funding opportunity is to accelerate proof of principal demonstration and validation of promising tools, techniques, and systems that can be applied to multiple human tissues. Its emphasis is on technologies to study lipids and extracellular environments and to resolve functional modifications of proteins and RNA. The due date for this funding opportunity is March 3rd. And the goal of the tissue mapping center's funding opportunity is to generate high-resolution, high-content, multi-scale, 3D, biomolecular maps of non-disease human organs and systems. Its focus is on the analysis of complete organs not currently studied within HubMap using multi-scale and multimodal assays. The due date for this funding opportunity is also on March 3rd. The Sematic Cell Genome Editing, or SCGE program, aims to develop quality tools to perform effective and safe germ genome editing in human patients. The program's goals are to design improved delivery systems in genome editors as well as in vitro and in vivo assay platforms to test safety and efficacy. The information and materials will constitute a genome editing toolkit that will be disseminated through a data coordination center. The program includes six components with the general areas and number of awards in parenthesis, shown here. The major focus is new delivery systems as well as rodent and animal, large animal reporters. There are two projects focused on unintended biological effects, one based on tissue chip systems and the other aimed to develop in in vivo tracking methods. There's also a small project supporting novel genome editors and finally a data coordination center. The initial funding process is complete with 45 awards now active. Meanwhile, the Common Funds 4D Nucleome Program, or 4DN, aims to study the three-dimensional organization of the nucleus in both space and time while also providing tools and resources for researchers to further interrogate the importance of nuclear organization. Program has three key components, one related to mapping, another to modeling, and another to functional validation. The first stage of the program was highly successful and then last fall, approval was given for a second stage in the NIH Common Fund with the second stage focusing on chromatin dynamics and function, data integration, modeling and visualization, nuclear organization and human health and disease and new investigator projects. Applications for the second stage of 4DN are due in March of this year and recently NHGRI joined the leadership team for 4DN, specifically Carolyn Hutter is now one of the co-chairs and Mike Payson, a key contributor to the 4DN working group since the start of the program is now serving as one of the program's co-coordinators. In January, the NIH Office of Data Science Strategy announced the launch of the Data and Technology Advancement National Service Scholars or Data Scholars Program. Now, the Data Scholars Program aims to attract experienced data scientists and engineers with an interest in public service to NIH, giving them the opportunity to work with large volumes of biomedical research data. Ideal candidates may not necessarily be familiar with biomedical research, but will gain that familiarity by being embedded within an NIH program. Data scholars will spend one or two years at NIH, hopefully helping to transform NIH programs by using cutting-edge data science methods and important health-related data sets. NHGRI is excited to be an active participant in this program specifically looking to host a data scholar who will focus on interoperability of cloud-based platforms for genomic research. Applications are due on April 30th of this year and the first cohort of Data Scholars will start at NIH this coming summer. Moving on then to our Division of Policy, Communications, and Education. The NIH Genomic Data Sharing Policy includes expectations for how researchers should obtain, share, and access genomic data from human and non-human sources. Ever since the policy was put into place, NHGRI has encouraged data sharing practices that go beyond the baseline NIH expectations. And so recently, NHGRI clarified the institute's expectation, specifically that all human data generated by NHGRI-supported research must be derived from specimens or cell lines for which explicit consent for future research use and broad data sharing can be documented. NHGRI set this expectation to increase transparency with researchers and participants and to promote consistent data sharing expectation across genomic studies. The institute recognizes that there are highly valuable samples that cannot meet this consent expectation. Therefore, exceptions to this expectation will be considered on a case-by-case basis when there is a compelling scientific justification. The timeline for implementing this new NHGRI expectation will be as follows. All relevant funding opportunity announcements with receipt dates after January 25th, 2020, and then all other NHGRI-supported research applications after January 25th of 2021. In light of the rapidly growing attention to and research about polygenic risk scores, NHGRI's communications and public liaison branch recently launched a new informational resource on this topic. This timely new outreach tool describes polygenic traits, introduces how polygenic risk scores are calculated, and explains how they might be interpreted. In addition to developing this new web-based resource, the branch collaborated with the YouTube science channel, SciShow, to produce a video on polygenic risk scores, which has already been received over 110,000 views. And then, to commemorate my 10th anniversary as NHGRI director this past December 1st, NHGRI's communications and public liaison branch helped me launch a Twitter account. So despite being a rapidly aging institute director, I am now using social media to communicate about NHGRI and genomics, hoping to stay better connected with colleagues and friends and interested stakeholders. And so through Twitter, I'm now regularly providing updates about NHGRI and genomics research and news and events. And in February, I went just north of 2,000 followers with my highest trending post, having over 17,000 views and 467 likes, whatever that means. So please consider following me at NHGRI underscore director. But then, in breaking news from just last week, I picked up a check mark next to my name in Twitter. Being a near complete Twitter neophyte, I had no idea what that meant. But subsequently, I learned that this meant that my Twitter identity had been verified. Now still being a near complete Twitter neophyte, I had no idea the significance of this until I told my two millennial children who were overwhelmingly impressed by this development. In fact, they were far more impressed with the fact that I am now verified in Twitter than almost anything else I have ever done as NHGRI director. True story. NHGRI is helping to support a major education and outreach effort associated with the upcoming PBS documentary, Ken Burns Presents the Gene and Intimate History, which is based on the book by Sid Monkergy. The documentary, which airs on April 7th and April 14th is based on Monkergy's bestselling 2016 book, which will journey through the key genetics and genomics discoveries that are some of the greatest achievements in the history of science. The series weaves together historical biography of genetics and genomics, exploring breakthroughs and understanding the impact that genes play on heredity, disease, and behavior. And a preview of the documentary is now available on the WETA website. And to promote this documentary and associated programming, I recently joined the film Senior Producer and Writer, Barrett Goodman, director Christopher Durance and council member Wendy Chung for a conversation at the National Educational Telecommunications Association Conference. This professional organization represents 275 public television member stations in the United States and the Virgin Islands. And the conversation was great and Wendy was terrific. The Smithsonian, an HRI exhibition, Genome Unlocking Life's Code recently traveled from Reading, California to Jacksonville, Florida, where it is on view at the Museum of Science and History. It will remain there until April 12th of this year. Now, although the Museum of Science and History was scheduled to be the exhibition's final venue, we are exploring the possibility of additional host sites, so stay tuned and please continue to check the exhibition's website and follow it on social media for the most up-to-date program information. Now, the Genome Unlocking Life's Code exhibition website has a new feature section under the connections tab entitled Genomics Insights. This new feature actually was developed based on recommendation that came out of NHRI Strategic Planning Town Hall held in the summer of 2018 at the University of Washington. There it was suggested that NHRI increased science communication and outreach opportunities for graduate students and postgraduate trainees. So Genomics Insights is intended to provide a space for trainees to develop their science communication writing skills while undergoing a quasi-peer review process. NHRI investigators assisted in identifying and recruiting trainees to serve as members of our trainee editorial board, which reviews and accepts submissions for the Genomics Insights site. So we encourage you to take a look at the first set of articles that have now been posted and consider suggesting names of trainees that we might wanna add to this board. And finally, moving on to the Institute's Intramural Research Program. In November, Ben Solomon started as NHRI's Clinical Director. In this position, Ben's responsible for leading the Institute's Intramural Clinical Research Program, providing oversight and guidance to NHRI scientists and physicians working to develop new diagnostic, therapeutic, and management approaches for the clinical care of patients with genetic disorders. As Clinical Director, Ben now provides leadership for a research portfolio that involves a study of a large set of genetic and suspected genetic disorders. Prior to being appointed NHRI, Clinical Director, Ben held a senior leadership position at the diagnostic company, Gene DX. And then prior to that was chief of the Division of Medical Genomics at the Innova Translational Medicine Institute at Innova Health System. NHRI is not foreign to Ben. In fact, he trained in the Institute's Medical Genetics Training Program Fellowship, subsequently working at the Institute for several years as a staff clinician before departing for Innova. Now, as I mentioned earlier, Josh Denney is now at NIH as CEO of the All of Us Research Program and will be transitioning his research group into NHRI's Intramural Research Program. And the addition of the Denney Research Group to NHRI provides a unique opportunity to expand the Institute's intramural efforts in a rapidly growing area of genomics research. So as a result, NHRI plans to establish a new Intramural Precision Health Research Program. Les Beeserker, shown here, who's chief of the Institute's Medical Genomics and Metabolic Genetics Branch will lead the new program. Together, Les and Josh will develop a multi-faceted interdisciplinary program that will include both major research projects, as well as core facilities that will facilitate NHRI intramural researchers' ability to use the growing datasets emanating from major cohort studies. More details about this program will follow in the coming months. And while I touched on it briefly earlier, let me embellish the news about a great honor for one of NHRI's outstanding intramural researchers, Julie Segre, who serves as chief of the Institute's Translational and Functional Genomics Branch, was recently elected into the National Academy of Medicine. Julie has been an investigator in our intramural program since 2000. She earned this honor through her groundbreaking work on the human-skin microbiome and the use of genomic tools to advance the tracking and control of antibiotic-resistant microorganisms in the hospital setting. And then our intramural research program has once again been highly productive since the last council meeting. I will just share with you three highlights. Dan Kastner and colleagues have identified a new auto-inflammatory disease called C-R-I-A syndrome, CREA syndrome, whose symptoms include persistent fever and swollen lymph nodes. The researchers have shown that missense mutations in the RIPK1 gene cause the disease. Alan Sidransky and colleagues performed a prospective longitudinal study to understand why most GBA1 mutation carriers never developed Parkinsonism despite the well-established association between GBA1 mutations and Parkinsonism. The results describe clinical differences among nine sibling pairs with Gauchay's disease, discordant for Parkinson's disease, which could help identify risk factors for Parkinson's disease. And Bill Paven and his colleagues performed the first developmental analysis of the rare lysosomal storage disorder, Neiman-Pick disease type C1 or NPC1 in a mouse model. They reported that mice with NPC1-related mutations have significant fetal growth restrictions, increased respiratory effort and 50% lethality at birth. The disease model could serve as a useful resource for developing treatments for respiratory complications seen in NPC1 patients. And we are near the end and I always like to point out that put in a plug for my monthly email update if you're interested. The genomics landscape is put together by staff and emailed once a month. And if you're interested in subscribing, you could do so under email updates. And then at a personal level, thanking everybody who helped put this longer than usual directors report together, lots of ground to cover, 50 to 60 people helped put it together. And as always, we would never have this happen unless lots of people were contributing slides and information and thinking about what council wanted to hear about. Additional thanks to the communications group and the web team for creating the electronic resource. And of course a special thanks to the usual ringleader, Chris Watterstrand, who really helps pull it all together and make it a sing at each council meeting. Chris is shown here on the far right. And in this photo, Chris and program director, Heather Colley are seeing at the recent retirement party for Diane Patterson, who was standing in the middle. And so I will stop there and thank you for your attention. And take any immediate questions you may have. If not, we need to switch over from my laptop to the house computer while I introduce the next topic.