Director's Report-Related Documents May 2024 Director's Report [13.86 MB]Director's Report [46.24 MB] No.Relevant Documents1ASHG-NHGRI 2024 Genomics and Public Service Fellows2New Director, Fogarty International Center3New Director, Center for Information Technology4National Library of Medicine Director Search5Departure of Director, National Institute of Mental Health6Executive Order on Women’s Health Research7FDA Finalizes Rule for LDT Oversight and RegulationFDA Finalized RuleFinal Regulatory Impact Analysis of the Final RuleFDA Proposed RuleAssociation for Molecular Pathology Response to the Proposed Rule8NIH’s Role in Sustaining the U.S. Economy9Mourning the Loss of Gary Felsenfeld10Mourning the Loss of Richard Cooper11FDA Finalizes Rule for LDT Oversight and RegulationFDA Finalized RuleFinal Regulatory Impact Analysis of the Final RuleFDA Proposed RuleAssociation for Molecular Pathology Response to the Proposed Rule12NASEM Report: Charting a Future for Sequencing RNA and Its ModificationsNASEM ReportWebinar Associated with Release of NASEM Report13Elected to National Academy of Sciences14Molecular Phenotypes of Null Alleles in Cells (MorPhic) Phase 1MorPhiC Program WebsiteMorPhiC Consortium Website15Identifying Research Priorities to Accelerate Genetic Diagnosis MeetingMeeting WebsiteMeeting Recording16Educational Hub & Sites for Enhancing Diversity in Computational Genomics and Data ScienceThe Hub Program WebsitePre-Application Webinar RecordingRFA-HG-20-002 - Broadening Opportunities for Computational Genomics and Data Science Education (R25)17NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL)AnVIL Program WebsiteNIH Cloud Platform Interoperability WebsiteAnVIL PortalAnVIL Help WebsiteOffice Hours & Events18Clinical Genome Resource (ClinGen)ClinGen Consortium WebsiteSchmidt et al. – "Recommendations for Risk Allele Evidence Curation Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group”19PhenX Toolkit: Social Determinants of Health (SDOH)Phenotypes and Exposures (PhenX) ToolkitNIMHD PhenX VideoKrzyzanowski et al. – “The PhenX Toolkit: Measurement Protocols for Assessment of Social Determinants of Health”20Defining a Clinical Data Ecosystem for Genomic Health WorkshopWorkshop Website21Ethical, Legal, and Social Implications (ELSI) Research ProgramELSI Research Program WebsiteELSIcon2024 WebsiteRegistration Link for ELSIcon2024229th Annual NHGRI Research Training and Career Development MeetingTraining Meeting ReportNHGRI Extramural Training Program Website23Madden et al. – "Advancing Genomics to Improve Health Equity"24Population Descriptors for Legacy Genomic Data: Challenges and Future Directions WorkshopWorkshop WebsiteRegistration Link for WorkshopNASEM Report25Extramural Investigator-Initiated HighlightsYang et al. – "Sex-Specific Genetic Architecture of Blood Pressure"Riggan et al. – "Patient Experiences with Prenatal Cell-Free DNA Screening in a Safety Net Setting"26Knockout Mouse Phenotyping Project (KOMP2)KOMP2 Program WebsiteIMPC WebsiteIMPC Workshops27Bridge to Artificial Intellegence (Bridge2AI)28All of Us Research ProgramAll of Us Program WebsiteAll of Us WorkbenchNature Special CollectionAll of Us Program Announcement on Funding Uncertainties29Bespoke Gene Therapy Consortium (BGTC)BGTC Clinical Portfolio SelectionBrooks et al. – “The Bespoke Gene Therapy Consortium: Facilitating Development of AAV Gene Therapies for Rare Diseases”FNIH Press Release about BGTCFNIH BGTC Regulatory Playbook30NIH Common Fund Program to Support Clinical Research in Primary Care Settings31NHGRI History of Genomics ProgramNHGRI History of Genomics Program WebsiteHistory of Genomics Archive WebpageOral History with Beth ShapiroVirtual Exhibit: "The Human Genome Project is simply a bad idea"Virtual Symposium: “ Exploring the Many Dimensions of Sex and Gender in the Genomics Era”32National DNA DayCelebrate National DNA Day WebsiteNHGRI News Feature on “The Ladder”"The Ladder" Statue Unveiling and Dedication33Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG)ISCC-PEG Program Website13th Annual Meeting of the ISCC-PEG342024 Edward Novitski Prize352023 George M. Kober Medal362023 Arthur S. Flemming Award37Washingtonian Magazine: Disease Detectives38NHGRI Intramural Research HighlightsManoli et al. – "Lipodystrophy in Methylmalonic Acidemia Associated with Elevated FGF21 and Abnormal Methylmalonylation"Logsdon et al. – "The Variation and Evolution of Complete Human Centromeres"Walsh et al. – "Vitamin B12 Status and Folic Acid Supplementation Influence Mitochondrial Heteroplasmy Levels in Mice"39‘One-Stop-Shop’ to Stay Connected Last updated: May 18, 2024