 I think I'm ready to turn this over to Eric for the director's report now. Okay, well, thank you, Rudy. I think what's funny, you said you reached for your suit and it had quite a bit of dust. Quite a bit. Yeah, I reached for, for those who, I haven't worn this for off those who keep track of my fashion, hopefully nobody does. Not only did this have dust on it when I reached for it this morning, it had, I pulled it out and it had a dry cleaners tag. And I had said, I have no memory of getting this dry cleaned, of course. And I said, I have no memory of having anything dry clean for the last two years. And then when I put the pants on, I said, I have no memory of these pants being quite so tight, but okay. I'm sure nobody else in the room has experienced that during the pandemic of clothes that don't seem to fit the way they once did. And, you know, sweatpants just seem to be so forgiving unlike so many other clothes. Any case, probably too much information. I would like to welcome all of you once again to this open session of the advisory council for human genome research. I truly am thrilled to be finally back given a director's report in front of a live audience. Although I am equally appreciative of those who are not in the room and who are watching this remotely either live or through video in a future date. And as with the rest of my, the open session, my director's report indeed will be videotaped and the recording will be made available as a permanent archive on NHGRI's website, genome.gov. Now, there are some new council members and also maybe new people who've never watched a council meeting or my director's report. Let me just make you aware of how we structure these things. We put together an electronic resource that is always developed for each director's report by many staff members. It's analogous to a supplemental material section of a published paper. And this resource can be accessed on the URL that's shown at the bottom. And the slides that I'll show during my director's report have also now been made publicly available, both in PDF and PowerPoint formats. And as we go along, when there's a document number in the bottom right corner indicated here that has a number on it, it means you will find a website linking to this resource or a document that you could download or something that's associated with that slide to give you more information. And we take this entire webpage and all the link documents and we permanently archive them on genome.gov as part of the historic record of this council meeting and this director's report. In terms of today, during this open session agenda, there's gonna be a number of other presentations that will follow my director's report. I've tailored my director's report so as to not have too much redundancy between any future presentations. Immediately following my director's report, we will have a guest. We will have a relatively new institute director, Lindsay Criswell, who's the director now of NIH's National Institute of Arthritis and Musculoskeletal and Skin Diseases or NIAAMS, that's what's referred to. And she's gonna speak about NIAAMS research with a particular focus on genomics and genetics. And next, Malia Fullerton, well, whose chairs, the Genomics and Society Working Group of this council will give an annual report from that group. And after that presentation, those two presentations, we're gonna actually have four concept clearances that's gonna be presented by members of the NHGRI extramural staff. First, we're gonna have Chris Wellington present a concept clearance on the Genomic Community Resources, PAR renewal. We're gonna have Lucia Hindorf then present a concept clearance on genomics and health equity initiatives, RFAs. Then Renee Ryder will present a concept clearance on the entry level training modules or ELM, PAR. And lastly, Larry Brody will present a concept clearance on the Center for Inherited Disease Research Contract renewal. And then we'll have two more reports that will be the last presentations in the open session. Deanna Church and Martin First will provide an update about the Human Genome Reference Program. And that will be followed by Jennifer Strausberger and Breton Gravely who are gonna provide a summary about a recent meeting entitled Capturing RNA Sequences and Transcript Diversity. So that is the plan for the open session which will take us most of the day. But for the rest of my director's report I'm gonna follow these seven major areas which we have found is a useful way to organize the vast amount of material I wanna get across over the next hour or probably a little bit more than that. And I will start with some general NHGRI updates and I will add to the list of new staff members that Rudy gave you of some I'm gonna give you more examples. So Lieutenant Commander Amon Martin recently joined the Division of Genomic Medicine as a program director. Amon is a member of the commission core of the Public Health Service. She was most recently at the U.S. Department of Defense, Defense Health Agency and the Department of Homeland Security, U.S. Coast Guard. Although she was previously stationed at NIH's National Heart, London Blood Institute and the National Cancer Institute. If you wanna see her in person by the way she is standing in back. There she is. She's passionate about NHGRI's mission and programs. She brings depth and breadth in genetic epidemiology, multiplex, omics, quantitative methods, health equity, social determinants of health, emerging infections and complex chronic diseases. Welcome. Renee Ryder is another new program director and she's now standing in back in the Division of Genomic Medicine although she is not totally new to the Institute. Renee is an experienced genetic counselor who actually recently completed the NIH American College of Medical Genetics and Genomics Fellowship in Genomic Medicine Program Management. You might have seen her affiliated with some of the activities of the Institute over the last couple of years as part of that fellowship. She is excited to continue working at NHGRI where she has become a valuable member of the Implementing Genomics and Practice or Ignite Pragmatic Clinical Trials Team. Renee previously worked at the Veterans Administration, the University of Utah Alzheimer's Center and the Utah Birth Defects Network. Renee, welcome again, although we've welcomed you once before. Sandeia Shirasaga is a new program director that she is standing in back and she's an NHGRI's Office of Genomic Data Science. Prior to joining NHGRI, she was at the National Institute of Allergy and Infectious Diseases where she led their Clinical Genomics and Laboratory Informatics Initiative. She has extensive experience in the development of genomics repositories, something we clearly have great interest in. She'll be involved in developing, promoting, supporting and coordinating genomic data science activities across the Institute. She will also oversee a portfolio of extramural grants focused on the model organism databases, machine learning and training to foster genomics and data science expertise in the diverse workforce. Welcome. NHGRI welcomes two NIH American College of Medical Genetics and Genomics Fellows for the 2022 to 2024 years. Again, this is what Renee Ryder just recently graduated from. In this case, our two new fellows are Julius Militante and Veronica Abraham. Julius grew up in the Philippines and he received his PhD in pharmacology from Texas Tech. He performed postdoctoral research on electropharmacology at the Max Plunk Institute for Experimental Medicine, Washington University and the Albert Einstein College of Medicine. He was an assistant professor in biology at the University of Michigan at Flint before he then went and earned a BS degree in nursing. Veronica is a primary care medical doctor with interest in public health and genetics. She obtained an MD degree in Quito, Ecuador and a master's in public health from Drexel University. And to further her knowledge in genetics, she has been taking genetics training courses and recently obtained a graduate degree in genetic counseling from Boise State University. So welcome to both of them. And then similarly, as you know, we have a joint fellowship program with the programs plural with the American Society of Human Genetics. So our own division of genomic society partners with the American Society of Human Genetics in sponsoring two fellowships each year. First, the genetics and public policy fellowship provides individuals an opportunity to work in NHGRI's policy and program analysis branch, also at ASHG and in Congress. This year's fellow is Albert Hinman's standing in the back there who completed his PhD in genetics at Stanford University and recently finished a science policy postdoctoral fellowship at the Engineering Biology Research Consortium connected with the University of California at Berkeley. Welcome, Albert. The genetics and education fellowship program provides fellows an opportunity to work in NHGRI's education and community involvement branch and at ASHG in developing educational programs for a wide range of audiences. The fellow may also do a rotation elsewhere with the public or a private organization involved in genetics and genomics education. This year's fellow is Nancy Sey, a recipient of a Gillian fellowship from the Howard Hughes Medical Institute and a PhD in neuroscience from the University of North Carolina. Beginning in September of 2022, actually just later on this month, NHGRI will host a new seminar series based on our own Genomic Innovators Award program which supports innovative work by early career genomic investigators who are part of consortia other team science efforts. Each seminar is actually gonna pair up an early career researcher with a more established researcher and their presentations will then cover specific topics that showcase the creative ways that early career investigators are accelerating genomics research. The first such seminar will take place on September 29th and will feature talks by Luca Pinello and Karen Mulkey. Actually Karen is an alumnus of our intramural research program where she did postdoctoral research. NHGRI and the Smithsonian's National Museum of African American History and Culture with support from the Foundation from the National Institutes of Health have partnered for a four, I'm sorry, with support from the Foundation for the National Institutes of Health have partnered for a four-part series entitled Historically Speaking. This series aims to underscore the advances made by African Americans in biomedical research and genomics. It also helps to showcase opportunities to increase diversity and equity in biomedical research. The second program in this series will occur on October 20th at the Oprah Winfrey Theater and will also be broadcast live for online viewing. Akilah Johnson of the Washington Post will moderate a panel with senior researchers affiliated with NIH. The researchers will discuss why they chose a career in biomedicine or account their experiences with mentors, discuss the barriers that they overcame in their careers, and share how they promote more diversity in their field. With particular note to NHGRI, one of our own NHGRI intramural researchers, Neil Hanchard will be among the panelists. There will also be two additional programs as part of this series on November 15th and December 6th. NHGRI program staff will host two ancillary workshops at the 2022 ASHG meeting, so be on the lookout for these. The first entitled Applying for NIH Grants, Strategies for Success, will provide an inside look at the NIH funding process, as well as provide tips and tools for successful grant writing. This workshop will feature informational presentations, a panel discussion, and a question and answer session with NIH and grantees at different career stages. This session will take place on October 26th and will have an option for remote participation. The second of these is entitled NHGRI Building a Diverse Workforce, Listening to the Voices of Trainees and Early-Stage Scientists. In this case, this workshop is designed for trainees and early-stage researchers, and will feature discussions about professional opportunities and genomics, including for those from groups traditionally underrepresented in the field. And this workshop will take place on October 27th. So let's move on to some general NIH updates, and there are a number of these. For starters, in June, Jim Anderson retired as the NIH Deputy Director for Program Coordination, Planning, and Strategic Initiatives. Jim had held this position for nearly 12 years, and in this role, Jim had overseen a broad range of NIH research portfolios, including the NIH Common Fund. And since we've been so involved in so many Common Fund projects, many of us interacted extensively and enjoyed interacting with Jim while he was here. Well, meanwhile, while a search for Jim's successor is conducted, Robert Eisinger has returned to NIH to serve in this role in an acting capacity. Bob actually left the NIH in April 2022 to become Director of Innovation for Faster Cures at the Milken Institute Centers for Accelerating Medical Solutions, but it's now coming back to help during this transition period for this important part of the NIH. Well, in June, President Biden announced his intention to nominate R.T. Prabhakar as the Chief Advisor for Science and Technology and also Director of the White House Office of Science and Technology Policy. In this capacity, she will be a member of the President's Cabinet. The nomination was approved by the Committee on Commerce, Science, and Transportation, and it currently awaits a final approval by the full Senate. Formerly, she led the National Institutes of Standards and Technology and the Defense Advanced Research Projects Agency, also known as DARPA. And speaking of DARPA on a related development, last week, President Biden announced his intention to appoint Renee Weggersen as the inaugural Director of the Advanced Research Projects Agency for Health. Not DARPA, but now it's ARPA-H. ARPA-H aims to conduct high-impact biomedical and health research with a mission quote to benefit the health of all Americans by catalyzing health breakthroughs that cannot readily be accomplished through traditional research or commercial activity, end of quote. Renee is currently the Vice President of Business Development at Ginkgo Bioworks and Head of Innovation at Concentric by Ginkgo. Formerly though, she was a program director for the Biological Technologies Office at the Defense Advanced Research Projects Agency or DARPA, where she launched programs focused on innovating how we tackle infectious diseases, increase the resilience of the bio-economy and institute important tools for biosecurity. And yet more senior leadership coming in. In August, President Biden announced that he intends to appoint Madhika Bertagnoli as the 16th Director and the first female director of the National Cancer Institute. Madhika is currently the Richard E. Wilson Professor of Surgery in the area of Surgical Oncology at Harvard Medical School, a surgeon at Brigham and Williams, Brigham and Women's Hospital, and a member of the Gastrointestinal Cancer and Sarcoma Disease Center at the Dana-Farber Cancer Institute. Nina Shore has been appointed the NIH Acting Deputy Director for Intramural Research, succeeding Michael Goddisman, who remarkably served in that position for 29 years. Nina had been serving as the Deputy Director of the National Institute of Neurological Disorders and Stroke. And yet more new additions. In June, Kevin Williams was appointed director of the NIH Office of Equity, Diversity and Inclusion as the director, Kevin will guide the strategic direction for NIH on diversity, equity, inclusion and accessibility matters and will serve as the NIH Equal Employment Opportunity Officer. He joins NIH from the US Federal Trade Commission where he most recently held the position of Deputy Executive Director. Other NIH-wide news, NIH is gearing up to implement the new data management and sharing policy which will become effective on January 25th, 2023, which once upon a time seemed like it was so far away and is not that far away anymore. And this new policy will supersede the 2003 data sharing policy. Under the new data management and sharing policy, NIH will require researchers to prospectively plan for how scientific data will be preserved and shared. Specifically, investigators will be required to submit a data management and sharing plan that outlines how scientific data and any accompanying metadata will be managed and shared taking into account any potential restrictions or limitations. The plan must comply with any institute or center approved plan for data management and sharing. NHGRI, needless to say, has been actively prepared for the implementation of this policy in accordance with the NIH requirements with plans to make publicly available those details on NHGRI's website, genome.gov, in the near future. Let's talk about money. Government funding will run out on September 30th unless a fiscal year 2023 budget or a continuing resolution is passed. Now, right now Congress is expected to pass a continuing resolution at some point before the end of the fiscal year that will keep the government open and funded. Most likely we think through December 16th, although that exact date might be a little influx and might change. But meanwhile, earlier this summer, the House Appropriations Committee approved the labor HHS bill, which includes a 3.16% increase for NHGRI specifically. And that was pretty much the typical increase for most NIH institutes and centers. The bill still needs approval from the full house though. On the other side of Congress, the Senate appropriations majority unveiled their draft labor HHS bill in late July. The Senate version proposes a similar budget for NHGRI with a 3.1% increase. But again, we await final approvals and passage, et cetera, et cetera, which I'll probably come after. We endure the continuing resolution for however long that goes on for. Let's move on to some general genomics updates, starting with a sad note, Leon Rosenberg, a renowned physician and geneticist known for clarifying the biochemical basis for metabolic disorders passed away in July. He was 89 years old. Leon was a leading figure in medical genetics, conducting influential research and training generations of scientists. He also served as Dean of the Yale School of Medicine, oversaw research at the pharmaceutical company, Bristol Myers Squibb, and later chronicled his lifelong struggle with bipolar disorder in an effort to destigmatize mental illness. On a happier note, Bruce Gallup has been elected the 2024 president and the 2023 president-elect of the American Society of Human Genetics. Bruce is the Dean for Child Health Research, director and Google family professor at the Mindich Child Health and Development Institute, also professor of medicine and genetics and genomic sciences and co-director of the Cardiovascular Genetics Program, all of those things he does at the Icon School of Medicine at Mount Sinai. Meanwhile, back at NHGRI, Chris Gunter, who's a senior advisor to me as the NHGRI director for genomics engagement, she also is head of the Engagement Methods Unit within our Institute's Intramural Social and Behavioral Research Branch, has been elected a member of the American Society of Human Genetics Board of Directors. So congratulations to Bruce and Chris. Also, big time congratulations for this group. This is a group representing the Telomere to Telomere Consortium. Adam Philippi, Karen Miga, Evan Eichler and Michael Schatz were named to Time Magazine's 100 Most Influential People of 2022. These four led the consortium to complete the first gapless sequence of the human genome. And when I got this picture, I just found it overwhelmingly gratifying to see such genomics luminaries featured on the red carpet. That just doesn't happen to us very often, if ever. So what a wonderful honor for these individuals. And they'd be the first to tell you who are simply representing hundreds of others who helped them in this important consortium. Jean-Louis Mandel, Harry Orr, Christopher Walsh and Huda Zogmi were recently awarded the Cavalry Prize in Neuroscience for the discovery of genes underlying a range of serious brain disorders and elucidating the pathways by which these genes work. Congratulations to all of them. And then in July, the World Health Organization, or WHO, Science Council published a report on accelerating access to genomics for global health. Now the WHO report argues that it is not justifiable ethically or scientifically for less-resourced countries to gain access to genomic technologies long after rich countries. So to promote the adoption or expanded use of genomics, the report's recommendations address four themes, advocacy, implementation, collaboration, and associated ethical, legal, and social issues. And the report actually highlights NIH's Human Heredity and Health in Africa program as an example of a collaborative arrangement that promotes the optimal use of new genomic information. Well, my last genomic update is a feel-good development which really personally makes me wonder, does life get any better than this? Now, as many of you know, I am a huge baseball fan, especially loyal to my St. Louis baseball cardinals who are in first place at the moment and playing really well these days, which makes me very happy. In fact, my love of baseball actually rivals my love of genomics. Well, earlier this year, I became emotionally overwhelmed, in other words, for clemt, for those who know the Yiddish word for clemt, when I came to learn that my two passions had actually come together, genomics and baseball. You may think I'm crazy, but specifically a new minor league baseball team in Lexington, Kentucky, had its debut season, and the team's name is the Kentucky Wild Health Genomes. I couldn't make this up, thus the for clemt part. I was so pleased to see professional baseball embrace the science of genomics and weave it into their culture. And I would like to believe that the baseball fans attending the games of this new team actually know what a genome is, and are also fans of the Human Genome Project. I can't validate that, but I'm just gonna assume that. Now, meanwhile, my generous policy group was kind enough to buy me this sweatshirt and this hat appreciating the fact that I am certainly the biggest combined genomics baseball geek in the world. And so I thank my policy group for that. And I did a little research about this team to find out, and they do things a little bit different, and they are embracing genomics. When they actually have one of their players touch home base after they've run the base pass, they don't call it a run. They actually call it a polygenic risk score, which I think is really good. The team is actually quite diverse as most baseball teams are. So they don't call it a roster, they call it a pan roster. So I thought that was embracing some genomic terminology. And then I thought particularly what was clever on their part was in the, and the only one following these jokes for, well, not the only one. I know Nancy Cox remotely is following these jokes because she's equally passionate about baseball. But any of you who know baseball know in the late innings frequently, when they put in a relief pitcher, they will do a double substitution where they'll put in two players and remove two players so that the pitcher, they'll often make multiple substitutions at the same time. And so instead of just substituting players when they put two in and take two out, they now refer to that as an insertion deletion. So that's the three developments I can tell you. So you can tell a really into this team, although I actually don't know if they're doing well this season, we will just assume they're doing well because they have the word genomes as their title. Okay, so that was my last update about genomics. And I was waiting until I had an in-person audience to talk about this so I could hear the laughter. It's really bad cracking jokes when you're alone in your conference room because you just hope somebody's laughing at least if two or three polite council members give me a courtesy laugh that makes me feel good. Okay, so I will now move on to more serious notes particularly related to our extramural research program. And let's start with the human genome reference program, HGRP, which reflects NHGRI's continued commitment to refining, maintaining and adding diversity and quality to the reference human genome sequence. The multi-component program aims to generate 350 high quality reference genome sequences from human participants of diverse genetic ancestry. Initial data for high quality phase diploid genome sequences from 45 individuals have been released and are available in multiple repositories. These sequences have been included in an initial pan genome, that's the joke, pan roster, pan genome representation. The results are available via the human pan genome reference consortium web page. The embedded ethical, legal and social implications are LC efforts and the program continue to provide guidance and critical areas related to establishing an inclusive human pan genome reference sequence, such as participant consent, engagement with diverse communities and understanding how best to describe the diversity of genomes represented in the reference. The program has also most recently been expanding outreach with potential international partners, including the Global Alliance for Genomics and Health or GA4GH and the Human Heredity in Health in Africa or H3Africa Consortium and actually others. Deanna Church and Martin Hurst are gonna give you a much more extensive update on the program later in this council meeting. This past August, NHGRI launched the molecular phenotypes of null alleles in cells or morphic consortium, which aims to develop an extensive catalog of molecular and cellular phenotypes for null alleles in every human gene. In its first phase, the program will optimize available methods to knock out 1,000 human genes, evaluate the utility in various cell lines and organoids, explore multiple molecular and cellular assays, develop analyses to understand the utility of and requirements for the data and disseminate the results to the community. NHGRI recently published a new funding opportunity announcement for data analysis and validation centers that will join the consortium. These centers will update, centers will undertake data analysis and modeling to evaluate and help ensure the utility of morphic data and a pre-application webinar was held earlier this month and a recording of the event and frequently asked questions about this funding opportunity announcement will be available on the Morphic website. And note that applications are due on November 1st of this year. This summer, NHGRI launched the non-human primate developmental genotype tissue expression project or NHP GTECS serving to augment and compliment the human GTECS project. This program aims to catalog and analyze transcriptional profiles of a wide variety of tissues from post-bordom non-human primates. This program is led by NHGRI but has co-funding from the Office of Research Infrastructure Programs and the National Institute of Mental Health. The Multi-Species NHP GTECS Research Center was awarded to the Oregon Health and Science University in partnership with the Broad Institute, Yale University and the Massachusetts Institute of Technology. The principal investigators for each component of the center are listed to the left on this slide. The center will provide high quality tissue samples, generate whole genome sequences and RNA-seq data, manage data quality control, analyze gene expression patterns in both bulk tissues and single cells and ensure that the data and samples are accessible to the research community. Now this past May, NHGRI and the National Institutes of Environmental Health Sciences held a workshop entitled Capturing RNA Sequence and Transcript Diversity from Technology Innovation to Clinical Application. The workshop brought together leaders in the RNA field to discuss the current capabilities, needs and prospects for comprehensive characterization of the true diversity of all RNAs and their modifications at a chemical and structural level. The recordings from the workshop are now available on the meeting website and you will also hear a presentation summarizing the workshop in much greater detail later in this council meeting. In July of 2020, the Electronic Medical Records and Genomics or Emerge Network comprising 10 clinical sites and a coordinating center launched a nationwide prospective study to evaluate the impact of polygenic risk scores on participant and clinician behaviors and decision-making. Now the lack of ancestral diversity across genomic data sets is a barrier to understanding and managing disease risk in diverse populations and we all recognize that people currently represented in large-scale genomic studies are overwhelmingly of European genetic ancestry. We must move for developing and using genomic data sets that better represent the full diversity of humanity to ensure accurate and equitable implementation of genomic medicine. Now six of the 10 Emerge sites are now recruiting an enhanced diversity cohort comprising of at least 75 participants from racial or ethnic minority populations, underserved populations or populations experiencing poor medical outcomes. The network has also made considerable progress in generating polygenic risk scores or PRS for ancestrally diverse populations. Several recently published papers highlight this work. The first paper on chronic kidney disease reports and optimized and validated polygenic risk score for ancestrally diverse populations derived from published and unpublished data. And the second example of this is on coronary heart disease which reviews the performance of polygenic risk scores for coronary heart disease and ancestrally diverse populations. And the Emerge network will begin to apply these findings by returning polygenic risk score results to 25,000 patients in a prospective cohort study that will be starting in the fall. Now, earlier this month, NHGRI published three funding opportunities in collaboration with the National Institute of Environmental Health Sciences and the National Cancer Institute to establish the multi-omics for health and disease consortium. The goal of this consortium is to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations. The consortium will consist of three components. First, up to six disease study sites that will enroll participants and capture phenotypic and environmental exposure data to study clinical conditions for which integrative multi-omics would be particularly impactful in defining associations with healthy and disease states. Second, one or two omics production centers that will utilize high throughput molecular assays to produce genomic, epigenomic, transcriptomic, proteomic and metabolomic data. And finally, one data analysis and coordination center that will focus on coordinating protocol development, consortium logistics and the production and release of multi-dimensional data sets that is available to the broader scientific community. For those interested in a pre-application webinar will be held on September 26th and materials from that webinar including answers to frequently asked questions will be made available soon thereafter. Letters of intent will be due by October 18th and applications themselves are due on November 19th. 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 in recognition of the need for harmonized standards and terminologies to define the evidence base for a gene's role in disease, ClinGen joined forces with other public resources and diagnostic laboratories to launch the Gene Curation Coalition or GenCC. This global effort brings together groups committed to sharing gene disease validity knowledge to, one, clarify the overlap between curation efforts and ensure interoperability, two, develop consistent terminology for validity assessment inheritance, allelic requirement and mechanism of disease and three, collaborate on gene curation efforts. Now, to date, I can tell you that GenCC database contains 16,130 submitted classifications on 4,629 unique genes. And in May, GenCC published its flagship paper in genetics and medicine. And in June, it was featured in the journal's podcast, Gene Pod. Both the paper and the podcast include discussions about data harmonization and global collaboration in the context of gene curation. The Genomic Medicine Working Group of this council hosted its 14th Genomic Medicine meeting last month called Genomic Medicine 14. In this case, a virtual workshop entitled Genomic Learning Healthcare Systems or GLHS. The workshop's goal was to discuss progress and identify generalized solutions to genomic medicine implementation challenges through GLHS. The objectives of the meeting were to explore real-world examples of GLHS, examine barriers and identify potential solutions from current successful GLHS, I can't say, GLHS, and then share solutions and develop collaborations to facilitate GLHS implementation. Once again, the workshop report and video recordings will soon be available on NHGRI's website, genome.gov. Keeping our video crew and our communications crew ever busy keeping up with all these workshops and getting them out for public consumption. NHGRI's technology development program continues to promote groundbreaking work, craving the wave towards the expanded use of genomics in both basic and clinical research along with genomic medicine implementation. The 2022 Advances in Genomic Technology Development meeting was hosted by the Technology Development Coordinating Center at the Jackson Laboratory in Framingham, Connecticut this past July. And for the first time in three years, not surprisingly, the community gathered in person to share new research developments, discuss challenges and work to push the field forward. And the hybrid meeting also had a virtual component. Now, some of the major meeting topics range across the breadth of current research in our technology development program, covering the key areas listed to the right on this slide. And the meeting also included sessions on strategies for commercialization and trainee career paths in this area. And speaking of our technology development program, I wanna highlight two funding opportunities for this program with some upcoming receipt dates. First, the program continues to support nucleic acid, sequencing innovation and early development, the application due date for the third and final round of this announcement is February 2nd of 2023, as detailed here. And there is also a broader opportunity to advance genomic technology development for research and clinical application via a notice of special interest, also called a NOSI, that has a standard receipt dates that are listed or standard receipt dates as detailed here. And then through the small business program, NHGRI supports US companies working across the genomic space, especially in areas with significant commercialization potential, such as genomic technology development, computational genomics, data science and genomic medicine. Along with the funding opportunities coming out of the NHGRI technology development program and the broad omnibus solicitation, NHGRI is participating in three additional funding opportunities for small business applications. The first of these focuses on development of highly innovative tools and technologies for analysis of single cells. The second calls for innovative diagnostic technologies for improving outcomes for maternal health. And the final one supports interactive digital media resources for genomics education. And all three of these funding opportunities have the standard receipt dates. The NHGRI extramural training program aims to prepare talented and diverse genomics workforce by providing both institutional and individual funding through a variety of mechanisms, including individual fellowships and career development awards, institutional awards and diversity supplements. Programs are offered at the undergraduate, post-baccalaureate, graduate, post-doctoral and faculty levels. Now two recently released funding opportunities focused on genomics workforce diversity. The first is the NHGRI pre-doctoral to post-doctoral transition award for a diverse genomics workforce, which will support graduate students as they complete their doctoral dissertation and transition to a post-doctoral research position. Applications for this are due December 8th. The second is a research supplements to promote diversity and health-related research and offer the opportunity for existing grants to support individuals from diverse backgrounds, including from groups underrepresented in health-related research. Individuals can include high school or college students as well as individuals with more advanced career stages. NHGRI will accept applications for such supplements throughout the fiscal year up until May 15th of that fiscal year. Meanwhile, NHGRI is excited to introduce a new extramurally funded program entitled the Diversity Centers for Genome Research. The program aims to increase the diversity of the genomics workforce through funding innovative research projects, genomics education and training at minority-serving institutions with a mission to serve historically underrepresented populations. This program will be associated with two funding opportunities. It is expected that both opportunities will expand the pool of diverse genomic scientists and clinicians by supporting cutting-edge genomics research projects, capacity building and training in genomics. The first planned funding opportunity is a U54 center program which will support multi-investigator interdisciplinary team to carry out two to three interrelated innovative genomics research projects, foster genomics research experiences and career development and engage the community. The second planned funding opportunity is a phase UG3-UH3 to support the development and enhancement of genomics research projects, genomic career development and community engagement. The first due date for the opportunity is estimated to be November 29th of this year. So stay tuned for details on those two announcements. The genomic research experiences to attract talented undergraduates into the genomic field to promote diversity, that's the full name, we just call it the great program, supports collaborations between one, a minority-serving institutions or MSI or individual with Disabilities Education Act or IDEA eligible institutions. And second, research-intensive institutions or organizations that have a prominent genomics research training environment. The institutional collaborations provide research educational opportunities and experiences in NHGRI mission areas and career development for undergraduates enrolled at MSI or IDEA eligible institutions. Shown here are the initial awards for this new program. Led by Nathaniel Zhu, the California State University at Monterey Bay will be collaborating with the University of California at Santa Cruz to train students in bioinformatics, computational biology and other fields of genomics. Led by Jose Garcia Araraz, the University of Puerto Rico will be collaborating with a variety of institutions to allow students to gain hands-on research experience and participate in workshops in the fields of genomics and bioinformatics. And note that the due date to apply for next year's awards is July 1st of 2023. NHGRI is committed to supporting talented researchers early in their careers, and this includes two funding opportunities for independent research R01 projects targeted at this career stage. The first is entitled New Investigators to Promote Workforce Diversity in Genomics, Bioinformatics or Bioengineering and Biomedical Imaging Research. This opportunity includes participation by NHGRI, the National Institute of Biomedical Imaging and Bioengineering and the All of Us Research Program. And it is intended to support early stage investigators and new investigators from diverse backgrounds, including those from groups underrepresented in health related sciences. And the next application due date for this is February 22nd of 2023. The second funding opportunities entitled Supporting Talented Early Career Researchers in Genomics, this opportunity is intended to support early stage investigators, and the next application due date for this one is February 28th of 2023. NHGRI supports the development of resources, approaches and technologies that will accelerate genomics research as described in our 2020 NHGRI strategic vision. Now, we recognize that the Institute is known for funding consortia based projects and cooperative agreements. However, we always like to emphasize that we also welcome novel and innovative investigator initiated applications that follow the NIH standard schedules for a submission review and award. So I wanna go back to what I did before the pandemic and now regularly give you briefly highlight some publications deriving from NHGRI's extramural investigator initiated research portfolio. So first, Samuel Smith and colleagues performed a large scale enrichment analysis of over 600,000 individuals representing seven ancestry groups from the population architecture using genomics and epidemiology or PAGE study, the UK Biobank and Biobank Japan. These findings were published in the American Journal of Human Genetics back in March. This analysis was partially funded by an NHGRI R01 award aggregated SNP phenotype associations and multiple genomic levels from genes to genomic regions to pathways and also multiple ancestries in order to better understand the architecture of complex disease. The researchers identified over 1,000 gene level associations across 25 different traits and also reported an enrichment of mutations in genes associated with triglyceride levels across multiple ancestry groups. And second, I'd like to highlight publications from NHGRI supported trainees. Catherine Callahan, who's a trainee on the University of Pennsylvania's LCT32 grant published a recent paper in Pediatrics that reported how neonatologists use genomic information in clinical care and concluded that these specialists need to recognize bias in interpreting ambiguous genetic results. Carl DeBoard, a K99-R00 awardee at the University of British Columbia published a recent paper in Nature that provides a general framework for designing regulatory sequences and addressing fundamental questions and regulatory evolution. Of interest to many of you, NHGRI has refined its guidance to grant applicants requesting more than $500,000 direct cost in a single year. Now, this guidance is summarized on NHGRI's website, genome.gov, and in a recent NIH guide notice. NIH policy requires applicants who seek research support greater than $500,000 in direct costs in a single year to seek permission to submit the application at least six weeks before the intended submission date. To ensure adequate time for reviewing consideration of requests, NHGRI strongly encourages such requests to be sent to an NHGRI program director at least eight weeks prior to the anticipated submission date. This extended timeframe has been found to better serve the applicant's needs. This revised guidance also includes a detailed list of items that applicants should include as part of their request letter. NHGRI further encourages all applicants to reach out to program staff during the development of an application to ensure that it aligns with NHGRI's strategic priorities. To facilitate this, the institute recently updated its website, genome.gov, to include a section on scientific areas of emphasis and extramural program contacts. Now the overview page for this section summarizes the major areas of research that NHGRI supports, such as genomic technology development, computational genomics, genomic medicine implementation evaluation, ethical, legal and social implications research and training. And the search page provides additional details for the major scientific areas, specifically each area is broken into subcategories and each subcategory includes a brief description about the type of research supported as well as contact information for one or more program directors. And this page also includes a specific area that you can put your own topic area in and do a query and it will feedback to you who you should likely contact for that area if it finds a match. So moving away from NHGRI, let me return to NIH but return to NIH common fund and trans NIH efforts, specifically ones of interest to the Institute, certainly starting with one of great interest to the Institute, the knockout mouse phenotyping program or COMP2, which launched in 2011 as an NIH common fund and trans NIH program. Now COMP2 collaborates with the International Mouse Phenotyping Consortium or IMPC to knock out and characterize protein coding genes in the mouse genome. Now over the past 10 years COMP2 investigators have created and phenotyped approximately 5,500 strains of knockout mice serving as a major contributor to the over 10,000 strains created by the larger IMPC program. Well, with the NIH common fund ending or NIH common fund funding ending, COMP2 has transitioned to a trans NIH program supported by 18 NIH institutes and centers as listed here. The objective of this final phase is to make substantive contribution to the completion of high priority human mouse orthologs. Specifically, the program will generate an additional 1,200 mutant mice lines using CRISPR-Cas9 technology, perform a series of phenotyping assays and make mice and data readily available to the research community. Awards for these efforts were made this summer to three production centers at the University of California, Davis, the Jackson Laboratory and Baylor College of Medicine, as well as to a data coordination center at EBI Kingston. The total funding will be $42 million over the five year period. The central goal of the Human Heredity and Health in Africa or H3Africa program has been to develop a sustainable and collaborative African genomics research enterprise. H3Africa has now completed its 10th and final year of NIH common fund support. NIH H3Africa investigators have over 700 publications contributing to the advancements of genomic studies of African populations with over 50 such papers published so far this year. Recent examples highlight how the H3Africa program is contributing to the body of work on increasing diversity in genomics research implementing pharmacogenomics in Africa and transferability and use of polygenic risk scores. These topics and others were also discussed at the most recent consortium meeting in Abuzia, Nigeria in June when after an almost three year hiatus, many members of the H3Africa community were finally able to reconvene in person. Others of course joined virtually. Of note was a session on population descriptors and genomics research which allowed a forum for stakeholders from Africa to contribute input into the US National Academy's consideration of this topic, which is currently ongoing. And finally, several H3Africa investigators will be participating in the presidential symposium on African genomics at the upcoming ASHG meeting. This session is being organized by NHGRI Scientific Director who is also currently the ASHG President Charles Routini. Now, while the current H3Africa program is wrapping up a new NIH Common Fund program called Harnessing Data Science for Health Discovery and Innovation in Africa or DSI Africa is just completing its first year. This program supports the use of data science technologies to produce innovative solutions for the most pressing issues in healthcare, public health and health research in Africa. The initial awards for seven collaborative research hubs, seven training programs, four LC research projects and the Open Data Science Platform and Coordinating Center were made last year. Now, there are two funding opportunity announcements now open for additional DSI Africa projects. One for a U01 partnership for innovative research projects to expand the DSI Africa network into new research areas and one for a UE5 research education programs to promote innovative training courses that will support the data science goals of the overall program. And due dates for both of these are at the end of this month. Bridge to Artificial Intelligence or Bridge to AI is an NIH Common Fund program that will set the stage for widespread use of artificial intelligence or AI in healthcare research. The goals of the program are to generate flagship AI-ready data sets centered around biomedical grand challenge questions to emphasize ethical AI best practices in biomedicine and to promote diverse teams who span the boundaries separating AI and healthcare research. Bridge to AI is funding these four data generation projects using the other transactions mechanism. These groups will focus on the following areas, AI analysis of human voice recordings as a biomarker for health, ICU data to build predictive models for adverse health events, spatio-temporal architecture of human cells and their use in interpretable genotype phenotype learning and type two diabetes as a model to show how a person's health is restored after disease. Now, Bridge to AI will also fund a bridge or coordinating center for the program that will be comprised of six cores across these three U54 awards. The bridge center will integrate and disseminate the activities, knowledge and practices from all the other components. And I should just point out NHRI is playing a prominent role in the oversight of Bridge to AI along with several other institutes. Now the goal of the NIH Cloud Platform Interoperability or NCPI effort is to establish and implement guidelines and technical standards to create a trans-NIH cloud-based federated data ecosystem in order to facilitate end user analyses across participating cloud platforms. NCPI was launched in late 2019 and is a collaboration of the NHRI Analysis Visualization and Informatics Lab Space or ANVIL program and other cloud-based programs and resources supported by the National Cancer Institute, the National Heart, Lung and Blood Institute, the NIH Common Fund and the National Library of Medicine. Now, this past March, the NIH Office of Data Science Strategy released a research opportunity announcement to establish an administrative coordination center for NCPI. The center will provide technical, administrative and coordination support for the NCBI program will assist NIH with the establishment of projects that aim to improve the technical interoperability of NIH cloud resources. The center award is expected to be made no later than the end of this fiscal year, so stay tuned. Now remember that the Common Fund is overseen by the Office of Strategic Coordination under the leadership of its director Betsy Wilder. Now this past year, this office added additional members to its leadership team. So Doug Shealy has taken on the new role as deputy director. He initially joined the office in 2019 as a program leader and has served as coordinator for various NIH Common Fund programs. In addition, the NIH Common Fund program has reorganized forming three branches and has appointed three assistant directors to lead these branches, starting with Cheryl and Boyce for re-engineering the research enterprise, Chris Kinziger for catalytic data resources, and Ananda Roy for transformational science and discovery. So this is their new organizational structure under Betsy Wilder. And in addition to new leadership, the NIH Common Fund is now soliciting ideas for future scientific programs that will catalyze discovery across all biomedical and behavioral research. These programs create a space where investigators in multiple NIH institutes and centers collaborate on innovative research expected to address high priority challenges for the NIH as a whole and make a broad impact on the scientific community. Now the NIH Common Fund programs are intended to be transformative, collaborative, time limited, multidisciplinary and ambitious. That's the desire for input. So this request for information or RFI is now open and NIH encourages responses that address the greatest opportunity for challenges in biomedical research today and explain what makes it the right time to address this idea through an NIH Common Fund program. These submissions are due at the end of September and may result in programs that would ultimately be supported in fiscal year 2025 or beyond. Okay, moving back to NHGRI specifically in the area of communications policy and education. In June, NHGRI held its final event in the highly successful Genomics and the Media Virtual Series with the finale featuring Magdalena Skipper, who is currently editor-in-chief of Nature. Magdalena just discussed modern scientific publishing and the effects of open access on both genomics research and science communication more broadly. And this last lecture capped off this popular series which featured trailblazers and science communications shown here and demonstrated the various approaches for communicating about genomics as well as the unique challenges and opportunities that different communications media can bring. Another part of our communications program, this past August marked the 10th year anniversary of NHGRI's history of genomics program. This milestone was featured throughout the month with a new spotlight, a new spotlighted item featured every week. First, we hosted a lecture by Lewis Emerall from Northwestern University and his doctoral student Spencer Hong that was entitled The History of Genomics Told Through Machine Learning. The lecture covered these researchers' work that employs machine learning technology to study our history of genomics programs vast document archive. And the tools that they're developing provide more efficient and effective processes to understand the breadth of the Institute's historical archival collections. Other commemorative activities included the release of a new human genome project fact sheet and the publication of a feature story that details the origins of NHGRI's history of genomics program starting when Francis Collins left NHGRI in 2008 and the dilemma that we then faced on how to preserve the historical legacy that he left behind but it included up through the more recent events of the program related to eugenics, scientific racism, ableism and disability. There was also social media promotion of the anniversary including several clips from a recent interview that I gave about the origins and evolution of the program. Now on October 6th and 7th, the history of genomics program together with the University of Buffalo Center for Disability Studies will hold a two day symposium entitled Irreducible Subjects, Disability and Genomics in the Past, Present and Future. The symposium will address historical and present day constructions of disability and ableism with a focus on the history and lived experiences of people with disabilities in the context of genetics and genomics. The event aims to develop a fuller account of the lives and experience of people with disabilities. Conversations will link disability rights to wider NIH discussions about inclusivity, intersectional equity and social justice. A round table meeting entitled The Promise and Perils of Social Behavioral Genomics is just now being planned for January of 2023. The discussion at this gathering will focus on the historical uses of genetics and genomics in social and behavioral research, including the historical connections of research into the genetics of social mobility and educational attainment with anti, with eugenics and scientific racism. A recent discovery, this also relates to history of genomics, a recent discovery at NHGRI made me think that it might be fun to include some sort of archival highlight in each of my director's report that would feature an interesting element associated with the institute's history of genomics vast and genomics programs vast and growing archive. So here's a pilot and see if you think such a regular feature is indeed interesting. Now, at times, collecting historical things about genomics is like archeology. When you dig and you dig, you occasionally unearth something really interesting. And then NHGRI, we recently have been doing quite a bit of office cleaning and moving to adjust to the new work routines brought about by the COVID-19 pandemic, as many of your institutions might be doing as well. And some of this includes finally clearing out and reviewing files in cabinet drawers that have not been opened for years and years and have just been largely ignored. Well, this time we didn't ignore it. We actually opened it up to clean out a file cabinet. And one of the files we encountered was a scrapbook of logo ideas for the National Center for Human Genome Research, which summarized some early conceptualizations for designing the then center's first logo. Now, first of all, I think all of you can appreciate. Have you ever been involved in the design of a logo? It could be one of the most contentious discussions you could ever have. In fact, I've been involved in these and it can actually get quite hostile. So now take us back in time 32 years and imagine the earliest part of our organization's attempt to create its self-identity through a logo. And so remember, this is just shortly after the launch of the Human Genome Project. So here are a subset of the ideas in that scrapbook for our first logo. You know, some are sort of interesting and some seem incredibly old-fashioned. You know, they're sewing Sanger sequencing gel or some chromosomes. I mean, it was the 90s. So I guess it was okay that it looked very 90s. I mean, that made sense. But then there were images like this that for the life of me, I can't figure out what they were thinking it was. I don't know what that's all about. The other ones made sense to me. In any case, I just thought it was fun. It was sort of fun to flip through this book. As a reminder, the first logo, which we retired about seven or eight years ago, looked like this. So out of this initial brainstorming, ultimately we came up with the things that to the far right, but now we have a whole new logo. So that's a little glimpse in our self-identity 32 years ago in an unearthed document, which is now part of our permanent archive, electronic archive. We actually didn't throw this away because the problem is they give these things to me and I collect things so that I won't throw it away. You know, I'm gonna keep this. So that's why I have such a cluttered office. The last month, 53 teachers became students again and enrolled in the NHGRI Education and Community Involvement Branch's 2022 short course in genomics. The course is held annually for middle school, high school and community college and tribal college science educators and provides the opportunity for STEM educators to hear lectures and receive teaching resources from leading NIH researchers, clinicians and staff. This virtual course featured a mix of live lectures, question and answer sessions with NIH scientists, workshops and also hands-on activities. This year, NHGRI partnered with the Cold Spring Harbor Laboratories DNA Learning Center, also the Smithsonian Environmental Research Center and Operation Outbreak. And for the first time since 2020, local participants were offered an optional in-person guided tour, which is shown here, of the Genome Unlocking Life's Code exhibition at the Smithsonian's National Museum of Natural History. And although the in-person experience is difficult to replicate online, the virtual format in the last three years has had its advantages, including the ability to increase the number of participants, re-engage course alumni, and provide easier access to participants from rural and disadvantaged communities. The Genetics and Genomics Competency Center, or G2C2, has been a valued resource for healthcare providers, educators and learners alike for over 10 years. However, it was time to refresh this repository of genomics education resources, which was accomplished both by a thorough review of relevancy and currency, as well as a move to its new home at genome.gov backslash Genome Ed. The new site incorporates filters to help genetic counselors, nurses, pharmacists, physicians' assistants and physicians quickly browse materials by topic and format, including the ability to find resources that qualify for continuing education credits. And as you can see, Genome Ed will be the new accessible and memorable name for this valuable Genomics Education Repository. Actually, the full name will be the Genomics Education Resource Center, but Genome Ed for short. So the Genome Ed Review Committee will evaluate new submissions, and Genome Ed is expected to grow to upskill the genomic literacy of healthcare professionals. And a communications and dissemination plan for this is in progress. And meanwhile, in June, NHGRI's education and community involvement branch hosted another successful healthcare professionals Genomics Education Week on social media, disseminating genomics education resources for healthcare professionals. Twitter posts using the events hashtag increased dramatically as events were hosted throughout the week with more than 4 million impressions. And the Inner Society Coordinating Committee for Practitioner Education and Genomics, or ISCCPEG, hosted the event. Their Director-Consumer Genetic Testing Project Group held a panel discussion with more than 150 registrants. Other groups hosting programs included the American Heart Association, the Pharmacogenomics Knowledge Base, Oncology Nursing Society, Association for Molecular Pathology, and the Minority Genetic Professionals Network. The topics covered over the week included pharmacogenomics, cancer genomics, cardiovascular genetics, molecular pathology, and an entertaining and educational rare diseases genomics trivia quiz. And finally, let me just give you just a few highlights about the NHGRI Intramural Research Program. Hopefully you folks remember this character, but he's an intramural investigator, as you know, within our intramural program. And Francis Collins was recently elected to the American Philosophical Society. An election to the American Philosophical Society honors extraordinary accomplishments in all fields, completely appropriate for Francis. So congratulations to Francis for this honor. And then the NHGRI Intramural Program has been certainly productive since the last council meeting. Let me just give you a few of their many research highlights. Elaine Ostrander and her group used whole genome SNP data to analyze the population structure and interbreed relationships between the Patagonia sheepdog and 175 recognized other dog breeds. The researchers found data that implicates the Patagonia sheepdog as the closest living representation of the common ancestor of modern UK herding dog breeds. Chuck Vanditti and his group used a modified trituin that is resistant to methylmalonation and delivered it through a vector to mice models of methylmalonic acidemia. The researchers found that targeting this molecule can reduce symptoms, demonstrating a proof-of-concept gene therapy strategy for this rare disease. And then Debo Yemo and his group conducted whole genome sequencing on African individuals with sporadic cases of non-syndromic cleft lip with or without cleft palate and their unaffected parents. And Debo and researchers that he was working with found numerous de novo mutations that are directly involved in the cause and development of clefting. Finally, before I end my director's report, I want to again remind you about a user-friendly one-stop shop for staying connected with me and NHGRI and by visiting this webpage through this very convenient URL and then scrolling down. You get this menu of nine major resources associated with the Institute. This includes links for our genome.gov website, the Genomics Landscape Monthly Newsletter and also my Twitter feed. I'll take a pause here and point out that last month I won above 10,000 Twitter followers, something that I and my very talented social media team are very proud of and we are grateful to those of you who are following me. Also on this page, there are convenient links to the 2020 NHGRI Strategic Vision, the NHGRI brochure are newly released and please use a talking glossary of genomic and genetic terms, very much updated, are building a diverse genomics workforce action agenda, which you heard, are you gonna hear a lot about and already did hear about in this open session, the Genome TV channel of YouTube and the NHGRI History Program Set of Oral Histories. And if those sites don't totally satisfy you, you can scroll down further and you'll come across some selected talks of mine as well as some recent podcasts and op-eds that I participated in. And I hope you find this one-stop shop helpful, trying to stay connected with the Institute. So long director's report, but it was in-person and so we wanted to sort of fill in things we hadn't done for a while. So a personal thanks to the many, many NHGRI staff members who contributed the slides, associated materials that I just reviewed as always, it requires a group effort to pull this off and includes a lot of effort from the Office of Communication staff for creating that electronic resource and getting video tapes done and get them all out for people to be able to view. And a special thanks, of course, to the usual ring-letter leader for helping me prepare my director's report, Chris Watterstrand, you may not see Chris, he's just right there in the upper right of this Zoom room. In this particular Zoom meeting, she was meeting with the leadership of the NIH Intramural Sequencing Center to gather information about a spoiler alert, an upcoming story that'll come out in the genomics landscape about the center's 25th anniversary this year. And so that I will stop and look to see if anybody has any questions or any comments at this time. Thank you.