 Thank you, Rudy So I would like to again welcome all of you to this open session of the National Advisory Council for Human Genome Research meeting That includes both my NHGRI colleagues who are joining me here in this conference room And also of those of you who are watching remotely and as with the rest of the open session My director's report is being video recorded and that recording will be made available as a permanent archive on NHGRI's website genome.gov If you are new to our council meetings and my director's report I want to make you aware of an electronic resource that has been developed for my director's report It's an alligace to a supplementals materials of a published paper And you can access this resource at the URL shown on the bottom of the slide Now the slides that I show during my director's report are also available electronically at this site made available both as The original PowerPoint slides as well as in PDF format When there are documents or relevant websites associated with a particular slide We annotate that with a document number Indicated on the bottom right of the slide shown there and that Document number will reference material that can be accessed or downloaded at the the website shown here and this Dedicated web page and all the link documents are archived on genome.gov as part of a historical record of this council meeting Now there's going to be a number of other presentations during the open session of this council meeting My director's report is tailored around those presentations. So I'll try to avoid spending much time on topics that others are going to cover Following my director's report Vence Bonham whose NHGRI's acting deputy director was speak about building a diverse genomics workforce action agenda Going over the implementation plan and giving us a progress report And then after lunch will be something new Loretta schools who's a program specialist in NHGRI's training diversity and health equity Office will present something new here the outstanding awards for diversity equity inclusion accessibility or DEIA in the genomics workforce This will actually be followed by a moderated discussion that I will lead with the awardees But then we really get to work because after those presentations There's going to be five concept clearances presented by NHGRI extramural program staff first Dave Kauffman is going to present a concept clearance on the LC program announcements for R01 R03 and R21 applications Second Nicole Lockhart will present a concept clearance on the Center for LC resources and analysis Third Lucia Hindorf will present a concept clearance on the diversity action plan fourth Christina Chang will present a concept clearance on advancing genomic medicine research and Last but by no means least Adam Falsofel to present a concept clearance on the human genome reference program But wait, there'll be more because following that there'll be three reports from working groups of this advisory council and we do ask Working groups to give reports roughly once a year So first Terry Monoglio is going to present genomic medicine working group of council and update of meetings activities and accomplishments That will be followed by council member Mark Craven who will present the genomic data science working group of council update and Lastly Maya Sabatilo and Greta Godo will present the community engagement in genomics working group of council update So that's the plan for the rest of the open session but first I'm going to Walk our way through these seven areas Which have for now over a decade provided a useful framework for reviewing all the relevant topics to cover in a director's report And I will start first with NHGRI updates And this is really a Sign you're gonna see this twice in director's report a sign of where NHGRI is in our life cycle because we have retirements, so after nearly 30 years an NHGRI's LC research program Joy Boyer retired in December Joy was the rock of the LC research program and a pioneer who helped shape this innovative area of science She was a role model to our extramural research program with a style and wisdom that was widely admired as Elsie's longest-serving program director joy influence and helped grow the field of LC research as Joy prepared to retire we heard from current and former trainees along with investigators at various stages in their career About the positive impact that joy had on their work and their career trajectories After an over 30-year career at NIH Elise Feingold retired in December Elise joined NHGRI in 1992 when it was still the National Center for Human Genome Research She made numerous Contributions that effectively guided the evolution and growth of NHGRI's extramural research program most notably Elise was the critical Program one of the critical program leaders for the ENCODE project More recently she served as the scientific advisor for strategic implementation in the Division of Genome Sciences Elise's professionalism strategic vision and humor have always been appreciated by NIH staff grantees and applicants and Elise Elise's retirement actually did not take her too far as she actually rejoined us as a part-time contractor last month And the last of this set of retirements Mike Smith also retired at the end of last year following a distinguished career at NIH before joining NHGRI Mike spent 20 years of the National Cancer Institute developing genomic technologies and researching conditions such as kidney failure HIV AIDS and diabetes for the past 10 years though Mike served as a program director at NHGRI focusing on technology development and coordination of the small business program Throughout his time at the Institute Mike has been known for his enthusiasm for science His considered approach to program management and his dedication to working with extramural grantees So our thanks and best wishes for these three extramural program directors who have retired Other changes include one related to Ken Wiley who's a program director in the Division of Genomic Medicine Who has accepted a new position at the National Center for Advancing Translational Sciences or NCATS During his nearly nine years at NHGRI Ken has led our clinical informatics efforts and managed an extensive portfolio of projects related to Pharmacogenomics epigenomics and clinical informatics, and we wish him all the best in his new role at the National Center for Advancing Translational Sciences new to NHGRI, Temis Jin Fufa joined the Division of Genome Sciences as of Genome Science as a program director last fall Until recently he served as a staff scientist in the National Eye Institute where he worked on stem cell differentiation functional genomics and Multnomix to elucidate the mechanisms of developmental diseases One of his primary responsibilities and as NHGRI is to serve as the Division of Genome Sciences Representative on the extramural training team He's also part of an NIH program leadership team for the Multnomix for disease and health and disease program that will launch this coming summer and holds a portfolio of awards focused on technology development for protein sequencing Of note, he actually completed his postdoctoral research at NHGRI in the intramural laboratory of Bill Pavan And it's great to have him back at the Institute now as an extramural program director So let me move on to some general NIH updates And I'll start with something seismic. So in truly seismic NIH Actually, it's world news. Tony Fauci retired from federal service at the end of last year Tony was truly an icon at NIH having worked here for 50 years And having served as director of the National Institute of Allergy and Infectious Diseases or NIAID for 38 years He advised seven U.S. presidents regarding infectious disease threats, including HIV, AIDS, and most recently COVID-19 Hugh Austin-Clos who is currently NIAID's principal deputy director is now serving as the Institute's acting director While a search for the next director is conducted Well, okay, wait a second. I can't let the departure of Tony Fauci from NIH be represented by a single slide And so I inserted another one Tony is Almost himself an institution He represents the best of scientists and clinicians engaged in public service He has had an impact on all of us through our recent experiences with COVID-19 And in my opinion, the NIH will not be the same without him That said, I consider it an honor and a privilege to have served as a fellow institute director with Tony For 13 years and one month of his 38 years as an institute director himself I cherished every moment of his mentorship and his friendship And I am pleased to report that Tony plans to continue advancing science and public health in his ongoing and future endeavors And from what I can tell over the last month or so. He has not slowed down one bit Other retirements, Roger Glass will actually retire tomorrow from federal service stepping away from his positions as deputy as director of the Fogarty International Center And NIH associate director for international research having held both positions since March of 2006 As the longest serving director of the Fogarty International Center Roger Broad and NIH's global health footprint Partnering with all the NIH institutes and centers including NHGRI to advance global health research and support of NIH's mission Fogarty's deputy director Peter Kilmarts will serve as the acting director while a search for the next director is conducted More retirements in December Andrea Norris retired from her positions as director of the NIH Center for Information Technology or CIT NIH's chief information officer For more than a decade. She led a 1.6 billion dollar technology portfolio that supports the research of NIH's 27 institutes and centers As well as researchers at more than 2,500 universities and medical centers across the country that receive NIH funding Ivor D'Souza has been selected to serve as the acting director of CIT While Dennis Papola has been selected to serve as the acting director of NIH of the NIH office of the chief information officer And NIH is launching searches for both of these positions in the very near future And yet more John Gallin will retire from federal service in March He currently serves as the NIH associate director for clinical research and chief scientific officer of the NIH clinical center John's career at NIH spans more than 50 years During which he has played an instrumental role in developing the research portfolio for the NIH clinical center And among John's many contributions his most significant one was serving as the 10th director of the NIH clinical center A decision he held from 1994 to 2017 making him the longest serving clinical center director Later this month adrian hallett will depart from her role as NIH associate director for legislative policy and analysis Adrien joined NIH in May of 2015 and has led NIH's engagement with both chambers of congress for the past eight years During which by the way NIH's appropriations have grown by more than 40 percent Upon departing from NIH she will become the vice president of global policy and strategic initiatives at cambrian bio pharma, Inc Lauren Higgins the current deputy director under adrien will serve as the acting associate director until a permanent replacement is identified Okay with all those retirements we must have appointments coming in we certainly do so in november nina shore Was appointed the NIH deputy director for intramural research She actually had been serving in that role in an acting capacity since august Following the departure of michael goddison from that position The NIH deputy director for intramural research leads the broader NIH intramural research program Which involves researchers and clinicians from 24 of NIH's 27 institutes and centers And then in november joni rudder became the director of the national center for advancing translational sciences or NCATS She had served as NCATS's Acting director since april of 2021 and in this role Joni will oversee a diverse portfolio of research activities focused on improving the translational process of turning scientific discoveries into health interventions Terms of some policy activities the new NIH data management and sharing or dms policy Went into effect in late january under this policy investigators Applying to NIH for funding must submit a dms plan Outlining how the resulting scientific data and any accompanying metadata Generated by the funded project will actually be managed and eventually shared with the research community ones funded The award recipients are expected to comply with the dms plan approved by the funding institute or center as essentially a term in condition of the award A designated NIH website for this new policy, which is sharing.nih.gov sharing.nih.gov has a wealth of useful information and guidance to assist them with planned preparation Now meanwhile, NHGRI has also been Active in preparation for implementing the new policy and in preparing and in providing NHGRI specific guidance to applicants Specifically, we have updated our data sharing policy website on genome.gov with guidance on where to share Scientific data generated with NHGRI funding And then additionally we have we along with several other NIH institutes and centers have generated sample dms plans To help investigators get started Well, given the generally strong commitment of genomics researchers to genomic data sharing We are confident that our research community is well poised to craft thoughtful and comprehensive dms plans On another topic research collaborations among institutes and centers are crucial for achieving many of NIH's goals We found it interesting that a new report from the NIH division of program coordination planning and strategic initiatives Revealed that NHGRI Is the second highest institute or center among the 27 with respect to inter institute center research collaborations And this was based on data covering fiscal years 2019 to 2021 Specifically 33 to 36 percent of NIH NHGRI's budget in those fiscal years Was involved in such collaborative efforts Notice that the overall average was you know, maybe half of that Average in about 17 to 18 percent which really illustrates the incredible degree to which our institute pursues Collaboration efforts across the NIH Something that I am certain will continue to be the case going forward In august of 2022 the white house office of science and technology policy or otherwise known as ostp Issued a memorandum to federal departments and agencies stating that by december 31st of 2025 Publications and their supporting data resulting from federally funded research Must be made publicly accessible without an embargo upon their free and public release Now the ostp guidance will end the current optional embargo Which allows scientific publishers to put taxpayer funded research behind a subscription based paywall Additionally the policy requires that agencies develop plans to improve transparency Including clearly disclosing authorship funding affiliations and the status of federally funded research This policy change was catalyzed in part by the covet 19 pandemic during which publishers agreed to make covet 19 related papers open access This represented a shift in practice during the public health crisis In 2020 ostp estimated that federal funds support seven to nine percent of the 2.9 million published million papers published worldwide that year This guidance is then expected to have substantial impact on the scientific publishing landscape And then I thought perhaps of general interest to many of you two weeks ago The journal science published a policy form that details the NIH led research response to the covet 19 pandemic The paper emphasizes that by building on decades of basic and applied research and convening all sectors in a highly collaborative fashion NIH and its partners were able to quickly develop vaccines and therapeutics and diagnostics in response to the covet 19 pandemic Additionally, the paper details the crucial lessons that were learned that will inform the public health research response for in future pandemics By the way, the paper also included a very informative timeline that showcases the key milestones in developing covet 19 vaccines therapeutics diagnostics and public outreach And lastly for this category On december 29th president biden signed a massive fiscal year 2023 omnibus appropriations bill into law The bill included a 5.6 percent budget increase for nih NHGRI specifically received a 3.8 percent increase which which brought our total funding to $663 million in this current fiscal year 2023 This 3.8 percent increase was actually higher than the initial proposals that came from the house in the senate With such an increase always appreciated So moving on to some general genomics updates Starting with david alas a molecular biologist whose research greatly advanced our scientific understanding of how proteins interact with genes Sadly passed away recently in january. He was 71 years old david's discoveries reshape knowledge of the genetic on-off and volume switches in gene expression He was a professor and researcher at rockefeller university from 2003 until last year Barbara majean a genetics pioneer who spent over 60 years working at johns hopkins university passed away also in january She was 91 Barbara's research focused on x inactivation the process by which one of the two x chromosomes is turned off in female mammals She was the sixth female to become a professor at johns hopkins university receiving that promotion in 1978 A good friend of NHGRI's jeremy furar has been selected to be the next chief scientist of the world health organization or whl Jeremy is highly accomplished as a physician scientist and but most recently he has served as director of the welcome trust since 2013 A strong advocate for all things genomics. Jeremy will join the who in the second quarter of 2023 We were all happy when the Nobel assembly awarded the 2022 Nobel prize in physiology or medicine to svante pablo For his discoveries about the genomes of extinct hominins and human evolution svante revolutionized the use of cutting-edge genomic technologies to create the field of ancient dna research He is currently director of the max max plonk institute for evolutionary anthropology And nobel prizes. I think as you know are awarded to those who have conferred the greatest benefit to humankind So congratulations to him similar congratulations goes out to this awardee because the 2022 last year debakie clinical medical research award was given to physician scientists Dennis low of the chinese university of hong kong for his work in advancing the analysis of fetal dna and maternal blood This seminal research led to the now routine use of non-invasive prenatal genetic testing for aneuploidies And alaska debakie award is given to honor outstanding work that contributes to the understanding diagnosis prevention treatment and cure of diseases Other honors relate to the national academy of medicine who recently selected Or announced the election of new members and of particular relevance to the genomics community or to nih and or to our institute Are the individuals listed here congratulations to each of them And then similarly there's an impressive list of genetics and genomics researchers Including nhiri colleagues who were recently elected to be fellows of the american association for advancement of science with their names listed here In november the american society of human genetics or ash g released the human genetics and genomics workforce survey report Which was developed with nhiri funds and created in partnership with the american college of medical genetics and genomics and the national society of genetic counselors The report summarizes the first of its kind in-depth look at the workforce demographics of the genetics and genomics field And the report lays out important groundwork for future assessment and action now Over 4,000 members of the genetics and genomic societies participated in the survey 67.7 of respondents identified their race ethnicity or ancestry as white and 73.3 percent identified as us citizens Note that women made up the majority of respondents specifically 74.7 Genetic counseling research and academics were the top primary areas of work for employed respondents Now nhiri hosted a webinar With report partners in december to explore the key findings from the report and to define next steps And more than 150 people attended the webinar in real time And if you missed that discussion the webinar was recorded and can be viewed on nhiri's website genome.gov In other ash g news on january 24th the american society of human genetics Which is the largest and among the most distinguished professional societies in human genetics publicly apologized for the strong support of Scientific racism in eugenics by past senior leadership including several past presidents An essential element of that apology was the acknowledgement by ash g that it should have done more to combat the misuse of genetic findings for eugenic and racist ends Importantly ash g announced that it will remove the names of people from the titles of its professional awards pending further review of whether those individuals had any past Associations with eugenics and scientific racism This public apology was one of a series of immediate actions taken by ash g in response to their 27 page Facing our history building an equitable future initiative report This report and an accompanying ash g statement is now online and carries with it a renewed commitment to build equity and inclusion within ash g's membership And among its leadership to rebuild trust with the scientific community and the public And finally to ensure that the grave areas of the past are not repeated And now for some honors related to ash g ash g gives awards to four members the genomics community or gave awards At its 2022 annual meeting Peter donnelly received the william allen award which recognizes a scientist for substantial and far-reaching scientific contributions to human genetics Heidi rem received the kurt stern award which recognizes genetics and genomics researchers who have made significant scientific contributions during the past decade David nelson received the victor a mccusiq award which recognizes an individual who has exhibited exemplary leadership and vision in advancing ash g's mission through the promotion And successful assimilation of genetics and genomics knowledge into the broader scientific community And amir kenney received the early career award which recognizes the contributions of genetics and genomic scientists in the first 10 years as an independent investigator Congratulations to those good friends and colleagues The national academies of sciences engineering and medicine or nasim has convened an ad hoc committee to conduct a two-year consensus study To assess the scientific and technological breakthroughs workforce and infrastructure needed To directly sequence rna in all of its modifications For example the epitranscriptome and to understand the role rna modifications play in biological processes and disease The study is sponsored by the warren albert foundation the national institute of environmental health sciences and nh g r i And as part of this study the committee will hold a public workshop on march 14th and 15th of this year The global alliance for genomics and health or ga4gh is dedicated to responsible sharing of genomic and clinical data by developing Technical standards and policy frameworks and facilitating their uptake in diverse research and healthcare settings Now the ga4gh held its 10th plenary meeting in september 22 in barcelona, spain At that meeting five new board members were introduced extending international representation in africa and asia and latin america ga4gh driver projects are genomic data initiatives that help guide ga4gh standards development and pilot their implementation in real world projects Currently nih supports or contributes to 11 of the 24 ga4gh driver projects ga4gh has opened a call for new driver projects and seeks to build larger strategic partnerships And finally The ga4gh assigned expert program is a pilot to engage technical experts from a broad range of projects around the world nih has funded the first dedicated ga4gh engineer of this program through the nih common fund dsi africa program led by nicky molder at the university of capetown south africa The global ally the global bio data coalition or gbc is a forum for research funders to coordinate and share approaches for the efficient management and growth Of bio data resources worldwide The gbc aims to stabilize and ensure sustainable financial support for the global bio data infrastructure And i'm pleased to report that after a rigorous two round selection process involving international reviewers The gbc announced the first set of global core bio data resources or gc brs in december Now gc brs are vital data resources of fundamental importance to life sciences around the world and the long-term preservation of biological data And of the 37 resources selected and designated as gc brs 16 of them are funded by nhgi The international common disease alliance or icda is a scientific consortium that aims to find barriers to progress In um in tackling its signature maps to medicine to mechanisms to medicines challenge Also to identify opportunities for new projects and also to facilitate international collaborations Now icda held its third scientific plenary meeting this past december The meeting feature talks by leaders from academia and industry and highlighted innovative proposals conceived by the core icda working groups Each of these proposals is focused on moving from maps to mechanism to medicine at scale Meaning that they are designed to move the needle on our understanding of how genetic variation Effects biological systems and contributes to risk for human disease with the ultimate goal of informing medical practice Now to learn more about icda and about the proposals featured at the scientific plenary meeting I would encourage you to visit the icda website and view the recordings that have now been uploaded to youtube Now for some end of 22 end of 2022 accolades Now although the science breakthrough of the year went to the james web space telescope There were two runners-ups that That would be a particular interest to the genomics community They were black deaths legacy detected in the genes of europeans And the ancient ecosystem reconstructed from 2 million year old dna Both of which I think you would admit are super cool advances And late last year nature named 10 people who helped shape science in 2022 and one of those was alondra nelson Who is the deputy director For science and society in the u.s. Office of science and technology policy But of note to this council I would point out the launcher was also previously a member of the genomics and society working group of this council And the last set of end of year accolades the scientists top 10 innovations of 2022 Included a machine to sequence the genome for a hundred dollars instruments for single cell analysis tools for non-invasive prenatal testing and a 3d view of gene expression So let me now move on to nhdri's extramural research program We'll start with the human genome reference program or hg rp Which represents nhdri's continued commitment to refining and maintaining the reference human genome sequence The program which is in its fourth year aims to generate at least 350 high quality reference human genome sequences And incorporate these data into a pan genome reference for the research community Data generated with multiple dna sequencing platforms reflecting phased diploid genome sequences from 150 individuals Have now been released and are available for download from multiple repositories Now the annual hprc meeting was held in october of 2022 and featured updates on sample selection and collection Embedded ethical legal and social applications researchers research and changes in dna sequence production costs The meeting also covered pan genome reference representations outreach and international collaborations nhdri hosted a separate planning meeting the day after the main meeting to consider next steps for the hprc program And note that as concepts stemming from this meeting will be presented this afternoon in the open session The genomics research enhances genetics of rare diseases or gregor consortium aims to significantly increase the Proportion of identified genetic causes of indelian disease through enhanced data sharing And a strong focus on the application of new technologies dna sequencing strategies and analytical approaches In november 2022 gregor consortium held its first in-person meeting with over 140 participants The meeting's key themes were networking and collaboration Poster sessions panel discussions and lunch groups helped to foster connections among consortium members The meeting included a session on the major challenges to solving the genetic causes Of mendelian disorders as well as a session on collaborations with projects that could be performed across gregor research centers as well as with other related consortium The impact of genomic variation on function or IGVF aims to develop a framework for systematically understanding The effects of genomic variation on genome function on how these effects shape phenotypes in health and disease Well this past september igvf members associated with the 26 awards gathered for the first consortium meeting The meeting focused on coordinating activities across all the awardees of igvf grants Also engaging trainees and promoting career development fostering interactions with other consortia and defining future goals and timelines There were awardee and working group presentations poster sessions lightning talks in a panel with guest speakers from various other consortium Now researchers Who are not funded by the igvf consortium can actually apply to join the program as affiliate members Affiliate members can benefit from the highly interactive research environment and consortium discussions And these members will make valuable contributions to the generation sharing and analysis of data They'll also engage in consortium activities and they'll broaden their participation from the scientific community So igvf currently has 17 affiliate members each contributing their unique expertise to the consortium They span 17 different institutions with 15 sites located across the united states as shown here as well as two sites in europe If you see the nhgi igvf website You will find a full list of affiliate members as well as information about how to apply for affiliate membership And the deadline to apply for affiliate membership is actually done on a rolling basis The national science foundations molecular foundations for biotechnology or mfb program aims to develop fundamentally new approaches In molecular sciences to drive novel directions in biotechnology NSF and nhgi jointly released the 2023 mfb solicitation Which is a partnership that focuses on RNA tools and biotechnology The program is soliciting synergistic proposals that pursue creative technological approaches to study RNA function and complex biological systems And harness RNA research to advance biotechnology The goal is to catalyze collaborations that integrate across biological chemical computational mathematical and physical science disciplines And letters of intent are due march 16th with the full proposals then being due on may 11th The nhgi analysis visualization and informatics lab space or anvil is a federated cloud-based Infrastructure and software platform that provides an analysis and computing environment for unrestricted and controlled access of genomic and phenotypic data sets Anvil has been piloting the data use oversight system also called duos Duos has a semi-automated service that expedites controlled data access for researchers Which simplifies the oversight of the data access request process by a data access committee. Remember data access committees are called DAX So duos implements the ga4 gh data use ontology or duos That's where it gets named duo standard and other features to streamline receiving and managing data access requests It facilitates browsing of data sets that can be used for particular research purpose Duos also supports DAX in their review and oversight by aligning proposed projects with data use limitations of requested data sets And by the middle of this year duos will be used by nhgi DAX Or by the nhgi DAX to process all data access requests for data sets that are stored in anvil Further innovation supporting the use of duos by nhgi DAX and potentially expanding to the DAX of other NIH institutes Will be key deliverables of the anvil The ninth i-dash genomic privacy challenge was held in november of last year with competition tasks including secure genotype phenotype prediction analysis of single cell transcriptomics and secure record linkage with patient data Now privacy algorithms used in the challenge are rapidly becoming practical in world world use in real world use And interestingly the speed of homomorphic encryption or compute time is actually decreasing faster right now than is Moore's law And previous i-dash challenge winners are building useful applications for genomics and health Fast genome imputation that is fully encrypted is now available In the open impute server at the university of texas health science center And another team of previous i-dash contributors has just won phase one of the uk us privacy challenge privacy prize challenge in the healthcare competition Moving on the clinical sequencing evidence generating research or seizure program Ames to generate evidence of the clinical utility of genome sequencing with a major emphasis on diverse patient populations And as cesar heads to completion this spring its investigators have been busy publishing and presenting their work So for example at the 2022 ash g annual meeting It actually featured 10 cesar presentations One of which was a platform talk By the ucsf program and prenatal and pediatric genome sequencing study or p3 egs That showed that among 529 pediatric and 316 prenatal patients whose parents self reported as underrepresented minority or had urm status And who received exome sequencing Rates of both positive diagnoses and inconclusive findings were actually similar between the urm and the non urm children For both pediatric and prenatal exome sequencing So these findings support the application of exome sequencing in patients from diverse populations Another platform presentation from the baler kids can seek study Evaluated yield and utility of adding exome sequencing to a pediatric cancer panel test Among reported results for from 581 childhood cancer patients less than half of the pathogenic And likely pathogenic variants were reported on both the exome sequence and panel Exome sequencing showed a large number of results not covered by the panel While variants unique to the panel are all found to be actionable This findings suggest that careful optimization of combined exome sequencing and panel testing may improve utility in pediatric cancer The clinical genome resource or clin gen Evaluates and disseminates the clinical relevance of genes and genomic variants for use in precision medicine and research Now the number of clin gen gene and variant curation expert panels has more than doubled since 2019 From 50 expert panels to now over 100 This has led to a sharp increase in the completed gene and variant curations That are freely available in the clin gen resource with total curations around 6000 unique genes and variants This exciting growth has been supported in part by the nih institutes listed here Which have funded 15 curation expert panels in disease areas relevant to their institute's mission And additionally clin gen funded grantee institutions have developed partnerships with non-profit and industry groups These partners have provided funds to support bio curators on a variety of expert panels Each partner has agreed to clin gen's partnership policy Which emphasizes principles such as data sharing transparency and no expectation of endorsement by clin gen or nih The growing funding support from our sister nih institutes and non-profit organizations and industry Contributes to clin gen's ability to sustain this important resource into the future The phenotypes and exposures toolkit or phoenix is a catalog of consensus protocols for measuring phenotypes and exposures in biomedical research Usage of phoenix's consensus protocols facilitates combining studies to increase statistical power Comparing studies to validate results and increase in the impact of individual studies Now the phoenix toolkit grant was recently renewed with carol hamilton from rti international as a principal investigator Phoenix is now supported under the nih y trans nih biomedical knowledge base program funding announcement Which supports curation annotation and linkage of core data sets And nhri will provide funding for five years with co-funding from the indicated four other institutes and centers and actually one office And in this next phase phoenix aims to increase use by leveraging biomedical standards to increase scientific impact and awareness of the resource And the active participation of our partners will facilitate wider dissemination and use of the toolkit among the nih funded community And um this december phoenix expanded its social determinants of health collection Now the expansion was achieved with significant leadership and funding from the national institute of minority health and health disparities Along with input from a trans nih working group And the new social determinants of health protocols measure social factors at the individual and community levels that influence health outcomes The expanded collection includes 15 new protocols for measures such as internet access minimum wage and health care discrimination The social determinants of health collection is a popular resource ranked as the seventh most downloaded collection of protocols on the phoenix website And we expect the expanded collection to further enhance the science of minority health and health disparities While advancing a culture of scientific collaboration The polygenic risk methods in diverse populations or prime consortium is developing methods in refining polygenic risk scores to improve the prediction of health and disease In diverse ancestry populations To assist in their efforts the prime consortium has received approvals from various db gap data access committees for over 300 data access requests Combining these data from other publicly accessible repositories will provide primed investigators with participant data from the blue shaded areas shown on the map for their analyses Now the prime consortium actually established five working groups for tackling these range of activities The data sharing working group focuses on developing policies and processes for sharing data The genotype harmonization working group is formulating a quality control and a harmonization plan The methods review working group assesses methods The phenotype harmonization working group defines phenotypic data standards while working closely with the social and ethical implications of polygenic risk working group, which identifies Investigates and responds to ethical social and related considerations And finally the prime consortium recently established its external scientific panel Which is a non governing entity comprising multidisciplinary experts that will assist the nih in assessing the prime consortium's activities Moving on to our small business program NHGRI small business program continues to support innovative research and enable commercialization and genomics and genomic medicine through funding small business innovation research or sbir And small business technology transport or sttr grants In total the institute funded 16.5 million dollars in small business grants in fiscal year 2022 And these recent sbir and sttr grants include 19 phase one proof of principle and 11 phase two pre-commercialization awards Of note the five companies shown here have been awarded new phase two grants curio bioscience for commercialization of a reagent kit for spatial Transpropanomic analyses Promortial genetic genetics for their work And a novel and efficient enzymatic process for synthesis of dna oligonucleotides Armonica technologies for development of single molecule nucleic acid sequencing technology A deuterium for their scientific data analysis platform and finally electronic biosciences For their nanoscale tools for innocent sequencing NHGRI's Extramural training program aims to prepare a talented and diverse genomics workforce by providing both Institutional individual funding through a variety of mechanisms including individual fellowship and career development awards institutional awards and diversity supplements Programs are offered at the undergraduate post baccalaureate graduate postdoctoral and faculty levels Well, the extramural training program has two updates on outreach activities to attract more diverse individuals to our workforce First program staff participated in outreach at the 2022 annual biomedical research conference for minority students or abracams on november 2022 And there were similar plans for participating in this and other outreach events in this current year 2023 Also, we wanted to bring to your attention that duke university principal investigator Suzanne haga published a conference report on the 2022 n h e r i research and career development annual meeting Published in personalized medicine the report highlights specific programs and events that were offered to the trainees during the three day meeting Raising its visibility to the biomedical research community And with that i'll transition to the n i h common fund and other trans n i h efforts Starting with uh comp 2 so the knockout mouse phenotyping program or comp 2 is a trans n i h research program Focused on generating a comprehensive resource of null mutant mice and their phenotype information To date comp 2 investigators have developed and phenotyped approximately 5500 strains of knockout mice Contributing to the more than 10 000 strains created by the international mouse phenotyping consortium or impc Now comp 2 launched the final phase of its program last year with co-funding from 18 institute centers and offices Awards totally 42 million dollars over a five-year period were made to three production centers at the university of california davis The jackson laboratory and baler college of medicine As well as to a data coordination center at ebi hingston The final phase of the program will generate an additional 1200 mutant mice mouse lines Using crisper cast 9 technology perform a series of phenotyping assays and then make the mice strains and data readily available to the scientific community And lastly comp 2 hosted its annual meeting in december of 2022 over 240 attendees Convened to discuss consortium wide efforts accomplishments and goals And the meeting featured several guest speakers including nhgi council member land panacea And recall that the central goal of the human heredity and health in africa or h3 africa program has been to develop a sustainable and collaborative african genomics research enterprise h3 africa has now completed its 10th and final year of nih common funds support We thought it was interesting to note that two weeks ago a paper describing the accomplishments of the h3 africa program and its influence On genomics in africa was published in the journal nature Aside from the incredible achievements of h3 africa that were included the paper importantly makes the case for future genomics funding in africa The nih common fund human biomolecular atlas program or hub map Ains to develop an open global framework for creating comprehensive mappings of the human body at a cellular resolution Which will help develop to help determine how the relationships Between genes affect the health of a person Hub map has now entered its production phase Which will run during fiscal years 2022 to 2026 and will focus on Building out reference data sets for more organs and modalities Integrating across different molecular and spatial revolutions Improving access to the generated data enhancing diverse perspectives and research efforts and establishing collaborative efforts with other programs Now there were 20 new awards were made in the production phase with locations across 10 different states These include six hub map integration visualization and engagement groups that will build the tools for integrating and visualizing data It also includes 10 tissue mapping centers That will generate the data for generating 2d and 3d maps for multiple organs And finally for demonstration projects that will focus on analysis that show how the broader research community can benefit from hub map data and resources The 4d nuclear or 4d n is an nih common fund program that aims to study the organization of the nucleus in both space and time Phase two launched in 2020 with a focus on understanding the role of nuclear architecture and disease and biological processes Such as gene expression So I want to highlight for you four recent publications from the 4d n program The first involves development of a novel method that captures spatially resolved single cell epigenomic data This method can be used to identify enhancer promoter pairs and enhancer hubs The second is a review that highlights current challenges and opportunities in using epigenome editing screens to examine the role of nuclear architecture in disease The third report Discusses progress in quantitative cell fate mapping specifically use an approach that connects cell lineage to cell fate and dynamics long after embryonic development And the fourth is a perspective from the nih program team that summarizes how the 4d n program started accomplishments of phase one and plans for phase two In addition to reading 4d n publications. I also encourage you to tune in to the webinars on the 4d n youtube channel The nih faculty institutional recruitment for sustainable transformation or first program Ames to enhance and maintain cultures of inclusive excellence in the biomedical research community through recruitment of early stage faculty Led by the nih common fund and managed in collaboration with several nih institutes and centers five new sites were funded in response To the most recent funding opportunity The new awardees are northwestern university in chicago university of california san diego University of maryland and baltimore university of new mexico and university of south carolina and columbia The second round awardees will join the existing awarded sites In recruitment of a critical mass of early career faculty who have a demonstrated commitment to inclusive excellence And the program also seeks to advance faculty development retention progression and eventually promotion As well as to develop inclusive environments that are sustainable The all of us research program is seeking to build a national research cohort of one million or more participants reflecting the diversity of the united states The program is creating a partnership with participants in order to advance precision medicine and to change healthcare for the benefit of all All of us is now returning health related genetic results to more than 150 000 study participants nationwide This includes a hereditary disease risk report with information on genomic variants in the 59 medically actionable genes Identified by the american college of medical genetics as well as a report focused on pharmacogenomics Participants have the option to speak to a genetic counselor to discuss and interpret the results of their genetic tests We are also excited to announce that nhgi is partnering with all of us and other nih institutes and centers on two New funding opportunity announcements listed here These solicitations are aimed at enhancing the use of all of us data in the research or work bench and developing new tools And applications to analyze these data And the application due date for both announcements is march 1st And lastly the bespoke gene therapy consortium or bg tc launched in october 2021 With an aim to improve understanding of the basic biology of vectors involved in gene delivery And to simplify regulatory requirements for gene therapies for ultra rare diseases The program is actually being coordinated by the foundation for the national institutes of health as part of its accelerating Partnerships on terms of her to is the app program With involvement of 12 government 13 industry and 10 nonprofit partners as well as over 81 million dollars in committed resources And the names and logos of which are shown on the left And now in year one of a planned six year initiative bg tc has selected the 14 candidate diseases that will be focused on and will be announcing the final five to six diseases later this summer These diseases which are sort of listed on the right will be the targets for gene therapy efforts Including manufacturing and pre-clinical testing And moving on then to nhgi activities and the areas of communications policy and education We're very proud about our recently updated and upgraded nhgi talking glossary of genetic and genomic Genomic and genetic terms It now features nearly 250 terms explained in an easy to understand way by leading scientists and professionals in addition to providing Graphics and animations for viewing and downloading and based on data from april 2021 to january 2023 The resource has received over 18.4 million page views by viewers in 190 countries And as a testament to the growing visibility of this resource the journal clinical chemistry Used the glossary's nanopore dna sequencing graphic on the cover of its december 2022 issue We were pleased to see that In the past two years the nhgi history of genomics program has toasted public forums to stimulate dialogue about Genomics and the related potential for stigmatization and misinformation The most recent of these events took place in january with a virtual round table discussion Entitled the promise and perils of social and behavioral genomics The event attracted 900 attendees that engaged with expert panelists Who addressed how the history of scientific racism in eugenics and genetics and genomics may limit the scientific community's Capacity to respond decisively to the misuse and misappropriation of scientific data Also this past october the program hosted a two-day virtual symposium entitled irredecible subjects disability and genomics in the past present and future And for that gathering nearly 1000 attendees registered for the event participants addressed 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 And as always recordings of both events can be found on our website genome.gov Now since 2023 We'll mark the 20th anniversary of the completion of the human genome project and the 70th anniversary of the discovery of dna's double helical structure This director's report archival highlight, which you may recall I started last director's report and will now always contain such an archival highlight in each of my director's reports It is related to these anniversaries So what's what's shown here on the left is actually a letter from president george w bush Sent to hit where he was sending his congratulations For the successful completion of the human genome project marking a new era of medical progress He also commemorated what was then the 50th anniversary of the discovery of dna's double helical structure In the center of this slide is the logo that was used in april of 2023 nearly 20 years ago illustrating the journey from the discovery of dna's double helical structure in 1953 to the completion of the human genome project in 2003 and lastly on the right is an excerpt of the senate concurrent resolution that designated april of 2003 as human genome month and april 25th of every year going forward as national dna day This resolution, which was in large part due to the work of the late representative louis slaughter Was a means to commemorate the successful completion of the human genome project in 2003 and the discovery of dna's iconic structure the double helix in 1953 So i just mentioned to you That 2023 is going to be an energetic and spirited in a celebratory year So please put on your seatbelts Because nhgi will be leading efforts to engage the genomics community and celebrating Three anniversaries this year the 20th anniversary of the completion of the human genome project 70th anniversary Of the discovery of dna's double helical structure and the 20th anniversary of national dna day To commemorate these anniversaries nhgi will hold a symposium on national dna day april 25th Highlighting relevant and interesting topics and genomics and concluding with the annual louis slaughter national dna day lecture now an annual event And the symposium agenda and the guest lecture will be announced soon And follow us on social media and check the national dna day webpage for the most up-to-date information So a busy 2023, but wait wait there will be more Because remember when i gaveled this open session together i said this was the 98th meeting of this council So yes, just wait for it because the 100th such gathering of this amazing group will happen this year We will also celebrate that anniversary as what when we all gather for the september council meeting and yes I will promise you now you can expect cake and balloons and maybe even some genome songs It will be quite the celebration. So look forward to the september council meeting of this coming year Well the nhgi office of punications released materials for audiences to learn about the different ways that artificial intelligence and machine learning Are being used at nhgi and genomics research This included a feature story and accompanying video about three nhgi intramural investigators Who use these technologies to characterize genomic disorders and to communicate genomic risk? nhgi also held a live twitter q&a with spencer hong from northwestern university and spencer uses machine learning To actually analyze the materials in nhgi's history archive Which contains over two million pages of documents pertaining to the history of genomics and nhgi And machine learning tools help to analyze those documents much much faster than a human can Another exciting area of nhgi research was recently Got a lot of of press attention. Thanks to our communications group The credit scientifically goes to elaine austrander's laboratory because by analyzing dna samples for over 200 dog breeds along With nearly 50 000 pet owner surveys Researchers in elaine's laboratory have pinpointed some of the genes associated with behaviors of specific dog breeds And their study which was published in the journal cell in december suggested that behavior Not just appearance has helped qualify these dogs for their various roles with humans This paper garnered significant attention by the popular press Including the new york times the daily beast and scientific american But the real highlight of that media coverage Was a feature about dog genomics on 60 minutes Which included a major interview with elaine austrander by anerson cooper who visited her laboratory on the nih campus To do the filming for the interview. So congratulations to elaine and her laboratory for this advance nhgi's intersociety coordinating committee for practitioner education and genomics or iscc peg facilitates student interactions With healthcare and education professionals working in genomics Three years ago iscc peg created a scholars program Which provides trainees with exposure to the broader genomics community and one-on-one interactions with experts in the field And over a two-year term these scholars work on a genetics genomics related education project under the mentorship Of an iscc peg member and the first class whose term ran from december 2020 to november 2022 presented their work This october so the program then selected two new scholars in december both are genetic counseling Our students so they're in genetic counseling programs Ava willer burrow from ohio state university and molly felix at virginia commonwealth university And finally Some things to say about our intramural program and sort of all things Sort of come around we're bookending this with retirements We heard about major retirements on our extramural program. Yes, our institute is at that age We have similar retirement bug that has hit the nhgi intramural research program And once again, there are three i'm going to tell you about So jone bailey wilson recently retired after 27 years at the institute Joan led a highly successful program that used statistical genetics to determine the genetic underpinnings of multiple types of cancer She served as a co-branch chief at nhgi for many years Was passionate about helping trainees flourish under her mentorship and launch their careers and she published over 240 papers throughout her time as an active researcher Another long-term branch chief dav bowdine also retired from nhgi recently He first joined NIH as a postdoctoral fellow at the national heart lung and blood institute But then joined our intramural research program in 1993 when our intramural program first formed His work advanced the field of genomics and hematology For example by identifying the genetic factors involved in blood disorders like diamond black finanemia In addition to a scientific achievements. Dave actually holds the record for the most mentor of the year awards at nhgi And finally jim mollican retired from nhgi after 25 years of the institute jim worked on the human genome project at the sanger center Before i successfully convinced him to come to nhgi and bring his genome sequencing expertise to the institute which he did in 2003 In 2009 i handed the baton To jim and he became the director of the nih intramural sequencing center And under jim's guidance nisk as it's known evolved with modern technologies and aided countless genomics projects in nh A few notable examples of jim's collaborative scientific work Included his involvement with the international hat map project the encode consortium and the andrithal genome project Chuck venditti was recently appointed to be the new chief of nhgi's metabolic medicine branch Chuck has a talented medical geneticist and has been at nhgi for nearly 20 years He actually started as a member of the physician scientist development program and later transitioning to an investigator position in 2008 And Since the last time we met nhgi's intramural research program has of course been very productive In many publications and we always like to just highlight a few Susan persky and her group used virtual reality simulations to investigate how clinicians might use polygenic risk scores in medical care They found like medical students who received additional genomic information made different clinical recommendations to the virtual patient Depending on the patient's race Last besiker and his group assessed 13 NIH studies that used a genotype first approach to patient care Which involves selecting patients with specific genomic variants and studying their traits and symptoms The researchers found that this approach uncovered new relationships between genes and clinical conditions Broadening the traits and symptoms associated with known disorders and offered insights into newly described disorders And finally anibach savannas and his collaborators identified a new set of genes used for colony formation in assault water Invertebrate these invertebrate genes are similar to genes involved in human immunity actually Specifically the histocompatibility complex lending new insights into the evolution of the immune system And finally and this is the end I want to leave you with a recommendation on how to improve morale among your trainees At your research institutions Now our intramural training office noted that ever since the pandemic started our trainees were not getting out of the laboratories As often and interacting with other trainees across the institute Especially because our intramural program is located in multiple buildings across the NIH campus So recently the office staff held a week-long event Where my cardboard self looking like waldo was placed at a different location around the NIH campus each day A photo of eric as waldo at that location was emailed to all the trainees And if they could correctly identify the location and then come there in person to mingle with other trainees They then received a baked treat and they had the chance to be photographed with cardboard eric And as you can see this was a smashing success I am convinced that the few hundred dollars used by our communications group to make that cardboard eric With some of the most morale enhancing money we could ever spend And so to that end i'm going to make a recommendation that each of you council members and even others who are watching Is that you should go and do the same thing at your institution? You should go get photographed make a cardboard replica and have your training group do this I am sure every member of council would be a smashing hit with their trainees Could you imagine all the trainees flocking in droves to be photographed with a cardboard laura? Or a cardboard steven? Or of course a cardboard gale And there'd be crowd control problems with cardboard how just no question. So Please let my communications folks know if you need advice about how to create and and manufacture such a cardboard replica of yourself I highly recommend it And I will come to a close by Reminding you that as I always end my director's report We have a very user friendly one-stop shop for staying connected with the institute and with me by visiting this webpage Through the indicated url and scrolling down You can get past the picture of me and get to this nice menu of nine major resources It includes the genome.gov website the genomics landscape monthly newsletter Of course my twitter feed But it also includes convenient links to our 2020 strategic plan our brochure that wonderful talking glossary of genomic and genetic terms I told you about our building a diverse genomics workforce action agenda that benz bonham is about to talk about The genome tv channel youtube and a history programs a set of oral histories And if you're if that doesn't satisfy you enough and you want more binge watching scroll down further You'll find some talks that i've given recently And if you really just want to read instead or listen podcasts of mine and some op-ups are there as well So please stay connected with us And and use this site as a way to do it Finally a personal thanks to the dozens of nhri staff members who contributed the slides and associated materials That I just reviewed as always it takes a group to make this happen A lot of information just conveyed When we of course we also couldn't do this without our office of communication staff for creating the electronic resource And then of course there's always the special thanks to my usual ringleader chris wetterstrand who coordinates all of this shown here Should the back were right there? This is the office of the director staff and a couple of very suspicious looking cardboard erics here as well I don't know what it is, but those cardboard erics sure do get around And with that I will stop and turn things back over to rudy. Thank you Thank you, Eric any questions for Eric and then go out the director's report Any early orders for cardboard cutouts that people want to get in the pipeline? all right, so our next Agenda item is a presentation by vance bonham, and I think you were going to handle this introduction erica