Director's Report-Related Documents February 2024 Director's Report [25.33 MB]Director's Report [142.13 MB] No.Relevant Documents1Finally!!!: The 17th NIH Director2New Director, National Cancer Institute3New Director, NIH Division of Program Coordination, Planning, and Strategic Initiatives4New Director, NIH Office of Nutrition Research5New Director, NIH Office of Science Policy6New Director, NIH Office of Legislative Policy and Analysis7National Medal of Technology and Innovation8Mourning the Loss of Robert Eiss9NIH Designates People with Disabilities as a Population with Health DisparitiesNIH News ReleasePAR-23-309 – Health and Health Care Disparities Among Persons Living with Disabilities (R01)10Re-Envisioning NIH-Supported Postdoctoral Training11FDA Proposed Rule for LDT Oversight and RegulationFDA Proposed RuleAssociation for Molecular Pathology Response to the Proposed Rule12Fiscal Year 2024 AppropriationsContinuing ResolutionSenate Bill for Labor, Health and Human Services, Education, and Related Agencies Fiscal Year 2024 AppropriationsHouse Bill for Labor, Health and Human Services, Education, and Related Agencies Fiscal Year 2024 Appropriations13Mourning the Loss of George Weinstock14Mourning the Loss of Eta Berner15Mourning the Loss of Sandra Day O’Connor162023 American Society of Human Genetics Awards172023 MacArthur Fellow18Elected to National Academy of Medicine19Elected to AAAS20New Chief Executive Officer, Wellcome21Global Alliance for Genomics & Health (GA4GH)GA4GH WebsiteNew Chair of GA4GHGA4GH Driver Project AnnouncementHuman Pangenome Project (HPP) Driver Project WebsiteHPP WebsiteHPP White Paper Link22Together for CHANGETogether for CHANGE WebsiteNew Initiative Aims to Sequence Half a Million Genomes of People with African Ancestry for Health Studies23Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR)GREGoR Program WebsiteGREGoR Consortium WebsiteGREGoR Data Coordinating Center Data Release WebpageGREGoR Version 1 Dataset in dbGaPWojcik et al. – “Beyond the Exome: What’s Next for Diagnostic Testing for Mendelian Conditions”24Impact of Genomic Variation on Function (IGVF)IGVF Program WebsiteIGVF Consortium WebsiteIGVF BioRxiv Channel WebsiteIGVF Consortium – "The Impact of Genomic Variation on Function (IGVF) Consortium"25Centers of Excellence in Genomic Science (CEGS)CEGS Program WebsiteZhang et al. – "Mouse Genome Rewriting and Tailoring of Three Important Disease Loci"McCutcheon et al. – "Transcriptional and Epigenetic Regulators of Human CD8+ T Cell Function Identified Through Orthogonal CRISPR Screens"Cortes-Lopez et al. – "Single-Cell Multi-Omics Defines the Cell-Type-Specific Impact of Splicing Aberrations in Human Hematopoietic Clonal Outgrowths"Marayati et al. – "Programmable Protein Expression Using a Genetically Encoded M6A Sensor"Dai et al. – "Ultrafast Bisulfite Sequencing Detection of 5-Methylcytosine in DNA and RNA"26Cross-Consortia Day 2023NHGRI Cross-Consortia Day 2023 Meeting ReportWashington University Department of Genetics News ReportNHGRI IGVF WebsiteNHGRI Human Genome Reference Program WebsiteNHGRI GREGoR WebsiteNHGRI Clinical Genome Resource WebsiteAtlas of Variant Effects Alliance Website27Genetic Architecture of Complex Traits WorkshopWorkshop WebsiteWorkshop RecordingsPAR-23-302 – Developing Novel Theory and Methods for Understanding the Genetic Architecture of Complex Human Traits (R01)PAR-23-301 – Developing Novel Theory and Methods for Understanding the Genetic Architecture of Complex Human Traits (R21)28NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL)AnVIL Program WebsiteAnVIL PortalAnVIL DiscourseOffice Hours & EventsDUOS page29NHGRI Genomic Data Science Working Group30Electronic Medical Records and Genomics (eMERGE) NetworkeMERGE Program WebsiteeMERGE Consortium WebsiteLennon et al. – "Selection, Optimization, and Validation of Ten Chronic Disease Polygenic Risk Scores for Clinical Implementation in Diverse Populations"31Multi-Omics for Health and Disease (MOHD) ConsortiumMOHD Program WebsiteMOHD Kick-Off Meeting32Clinical Genome Resource (ClinGen)ClinGen Consortium WebsiteGoldstein et al. – “Variant Classification for Pompe Disease: ACMG/AMP Specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel”Spier et al. – “Gene-Specific ACMG/AMP Classification Criteria for Germline APC Variants: Recommendations from the ClinGen Insight Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel”33Phenotypes and Exposures (PhenX) Toolkit34Implementing Genomics in Practice (IGNITE)35Regional Genomic Medicine eConsult ServicesRFA-HG-24-001 – Research on the Impact of and Methods for Implementing Regional Genomic Medicine eConsult Services (U01)PAR-24-106 – Solutions to Enable Regional Genomic Medicine eConsult Services (R43/R44)PAR-24-107 – Solutions to Enable Regional Genomic Medicine eConsult Services (R41/R42)eConsult WebinarNHGRI Small Business Program Website36Genomic Medicine XV: Genomics and Population Screening37Genome Technology ProgramTechnology Development Program WebsiteGenome Technology Development Coordinating Center (TDCC) WebsiteNOT-HG-24-012 – Advancing Genomic Technology Development for Research and Clinical ApplicationRFA-HG-24-013 – NHGRI Technology Development Coordinating Center (U24)Genome Technology Program Publication HighlightsGenome Technology Program YouTube Channel38Small Business Program39Ethical, Legal, and Social Implications (ELSI) Research ProgramELSI Research Program WebsitePAR-23-293 – Ethical, Legal and Social Implications (ELSI) Research (R01)PAR-23-294 – Ethical, Legal and Social Implications (ELSI) Exploratory/Developmental Research Grant (R21)PAR-23-295 – Ethical, Legal, and Social Implications (ELSI) Small Research Grant (R03)Plan for Enhancing Diverse PerspectivesInformational Session on the Renewed ELSI Funding Opportunities40Training, Diversity, and Health Equity (TiDHE) OfficeIdentifying and Evaluating Trainee Outcomes ToolkitRFA-HG-22-004 – Genome Research Experiences to Attract Talented Undergraduates into Genomic Fields to Enhance Diversity (R25)PAR-21-074 – Mentored Research Experiences for Genetic Counselors (R25)PAR-21-075 – Research Experience in Genomic Research for Data Scientists (R25)NHGRI Diversity Centers for Genome Research Consortium WebsiteRFA-HG-22-026 – Diversity Centers for Genome Research (U54)RFA-HG-22-027 – Diversity Centers for Genome Research (UG3/UH3)41Extramural Investigator-Initiated HighlightsChen et al. – “Improved Sequence Mapping Using a Complete Reference Genome and Lift-Over”Gordon et al. – “Integrative Single-Cell Characterization of a Frugivorous and An Insectivorous Bat Kidney and Pancreas”Smith et al. – “Clinically Indicated Genomic Sequencing of Children in Foster Care: Legal and Ethical Issues”Wojcik et al. – “Provision and Availability of Genomic Medicine Services in Level Iv Neonatal Intensive Care Units”42Resources for New Grant WritersFunding for New and Early-Stage Investigators Funding OpportunitiesInside the Black Box of the NIH Funding System Video434D Nucleome (4DN)4DN Data Portal4DN Seminar Series4DN Overview4DN Funded ProjectsMalachowski et al. – “Spatially Coordinated Heterochromatinization of Long Synaptic Genes in Fragile X Syndrome”Owen et al. – “Design Principles Of 3D Epigenetic Memory Systems”Zhang et al. – “Computational Methods for Analyzing Multiscale 3D Genome Organization”Dekker et al. – “Spatial and Temporal Organization of the Genome: Current State and Future Aims of The 4D Nucleome Project”44Knockout Mouse Phenotyping Project (KOMP2)KOMP2 Program WebsiteIMPC WebsiteIMPC Workshops45All of Us Research ProgramAll of Us Research Program WebsiteAll of Us Research Program WorkbenchNIH’s All of Us Research Program Awards $1.5 Million to Institutions Collaborating with Tribal Communities to Advance Precision MedicineAll of Us Research Program Small Grants Press Release46NHGRI Exhibits at Annual Meetings47New Instagram Accounts for NHGRI and NHGRI DirectorNHGRI Director InstagramNHGRI Instagram48NHGRI History of Genomics ProgramNHGRI History of Genomics Program WebsiteArchive Landing Page49Undergraduate Genetics Education Network (UGEN)50ISCC-PEG Scholars ProgramISCC-PEG Scholars Program Website2021-2023 ISCC-PEG Scholars Program Presentations51Celebrate National DNA Day 2024!52Celebrating 30 Years of the NHGRI Intramural Research ProgramA Conversation with the 4 NHGRI Scientific Directors WebsiteA Conversation with the 4 NHGRI Scientific Directors (Video: Part 1)A Conversation with the 4 NHGRI Scientific Directors (Video: Part 2)53Founding Director, NHGRI Center for Genomics and Data Science Research54Gene Therapies for Sickle Cell Disease Community-based Research ProjectNIH Statement on New FDA-approved Gene Therapies for Sickle Cell DiseaseNHGRI Sickle Cell Disease Gene Therapy Education Project55NHGRI Intramural Research HighlightsLin et al. – "The History of Coast Salish “Woolly Dogs” Revealed by Ancient Genomics and Indigenous Knowledge"Adebamowo et al. – "Genome, HLA and Polygenic Risk Score Analyses for Prevalent and Persistent Cervical Human Papillomavirus (HPV) Infections"Shen et al. – "A Genome Catalog of the Early-Life Human Skin Microbiome"56NIH Intramural Fellows Vote to Unionize57‘One-Stop-Shop’ to Stay Connected Last updated: February 11, 2024