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February 2024

Director's Report PDF Icon  [25.33 MB]

Director's Report PowerPoint Icon  [142.13 MB]
 

No.Relevant Documents

1

Finally!!!: The 17th NIH Director

2

New Director, National Cancer Institute

3

New Director, NIH Division of Program Coordination, Planning, and Strategic Initiatives

4

New Director, NIH Office of Nutrition Research

5

New Director, NIH Office of Science Policy

6

New Director, NIH Office of Legislative Policy and Analysis

7

National Medal of Technology and Innovation

8

Mourning the Loss of Robert Eiss

9

NIH Designates People with Disabilities as a Population with Health Disparities

NIH News Release

PAR-23-309 – Health and Health Care Disparities Among Persons Living with Disabilities (R01)

10

Re-Envisioning NIH-Supported Postdoctoral Training

11

FDA Proposed Rule for LDT Oversight and Regulation

FDA Proposed Rule
Association for Molecular Pathology Response to the Proposed Rule

12

Fiscal Year 2024 Appropriations

Continuing Resolution

Senate Bill for Labor, Health and Human Services, Education, and Related Agencies Fiscal Year 2024 Appropriations

House Bill for Labor, Health and Human Services, Education, and Related Agencies Fiscal Year 2024 Appropriations

13

Mourning the Loss of George Weinstock

14

Mourning the Loss of Eta Berner

15

Mourning the Loss of Sandra Day O’Connor

16

2023 American Society of Human Genetics Awards

17

2023 MacArthur Fellow

18

Elected to National Academy of Medicine

19

Elected to AAAS

20

New Chief Executive Officer, Wellcome

21

Global Alliance for Genomics & Health (GA4GH)

GA4GH Website

New Chair of GA4GH

GA4GH Driver Project Announcement

Human Pangenome Project (HPP) Driver Project Website

HPP Website

HPP White Paper Link

22

Together for CHANGE

Together for CHANGE Website

New Initiative Aims to Sequence Half a Million Genomes of People with African Ancestry for Health Studies

23

Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR)

GREGoR Program Website

GREGoR Consortium Website

GREGoR Data Coordinating Center Data Release Webpage

GREGoR Version 1 Dataset in dbGaP

Wojcik et al. – “Beyond the Exome: What’s Next for Diagnostic Testing for Mendelian Conditions”

24

Impact of Genomic Variation on Function (IGVF)

IGVF Program Website

IGVF Consortium Website

IGVF BioRxiv Channel Website

IGVF Consortium – "The Impact of Genomic Variation on Function (IGVF) Consortium"

25

Centers of Excellence in Genomic Science (CEGS)

CEGS Program Website

Zhang 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"

26

Cross-Consortia Day 2023

NHGRI Cross-Consortia Day 2023 Meeting Report

Washington University Department of Genetics News Report

NHGRI IGVF Website

NHGRI Human Genome Reference Program Website

NHGRI GREGoR Website

NHGRI Clinical Genome Resource Website

Atlas of Variant Effects Alliance Website

27

Genetic Architecture of Complex Traits Workshop

Workshop Website

Workshop Recordings

PAR-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)

28

NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL)

AnVIL Program Website

AnVIL Portal

AnVIL Discourse

Office Hours & Events

DUOS page

29

NHGRI Genomic Data Science Working Group

30

Electronic Medical Records and Genomics (eMERGE) Network

eMERGE Program Website

eMERGE Consortium Website

Lennon et al. – "Selection, Optimization, and Validation of Ten Chronic Disease Polygenic Risk Scores for Clinical Implementation in Diverse Populations"

31

Multi-Omics for Health and Disease (MOHD) Consortium

MOHD Program Website

MOHD Kick-Off Meeting

32

Clinical Genome Resource (ClinGen)

ClinGen Consortium Website

Goldstein 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”

33

Phenotypes and Exposures (PhenX) Toolkit

34

Implementing Genomics in Practice (IGNITE)

35

Regional Genomic Medicine eConsult Services

RFA-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 Webinar

NHGRI Small Business Program Website

36

Genomic Medicine XV: Genomics and Population Screening

37

Genome Technology Program

Technology Development Program Website

Genome Technology Development Coordinating Center (TDCC) Website

NOT-HG-24-012 – Advancing Genomic Technology Development for Research and Clinical Application

RFA-HG-24-013 – NHGRI Technology Development Coordinating Center (U24)

Genome Technology Program Publication Highlights

Genome Technology Program YouTube Channel

38

Small Business Program

39

Ethical, Legal, and Social Implications (ELSI) Research Program

ELSI Research Program Website

PAR-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 Perspectives

Informational Session on the Renewed ELSI Funding Opportunities

40

Training, Diversity, and Health Equity (TiDHE) Office

Identifying and Evaluating Trainee Outcomes Toolkit

RFA-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 Website

RFA-HG-22-026 – Diversity Centers for Genome Research (U54)

RFA-HG-22-027 – Diversity Centers for Genome Research (UG3/UH3)

41

Extramural Investigator-Initiated Highlights

Chen 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”

42

Resources for New Grant Writers

Funding for New and Early-Stage Investigators Funding Opportunities

Inside the Black Box of the NIH Funding System Video

43

4D Nucleome (4DN)

4DN Data Portal

4DN Seminar Series

4DN Overview

4DN Funded Projects

Malachowski 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”

44

Knockout Mouse Phenotyping Project (KOMP2)

KOMP2 Program Website

IMPC Website

IMPC Workshops

45

All of Us Research Program

All of Us Research Program Website

All of Us Research Program Workbench

NIH’s All of Us Research Program Awards $1.5 Million to Institutions Collaborating with Tribal Communities to Advance Precision Medicine

All of Us Research Program Small Grants Press Release

46

NHGRI Exhibits at Annual Meetings

47

New Instagram Accounts for NHGRI and NHGRI Director

NHGRI Director Instagram

NHGRI Instagram

48

NHGRI History of Genomics Program

NHGRI History of Genomics Program Website

Archive Landing Page

49

Undergraduate Genetics Education Network (UGEN)

50

ISCC-PEG Scholars Program

ISCC-PEG Scholars Program Website

2021-2023 ISCC-PEG Scholars Program Presentations

51

Celebrate National DNA Day 2024!

52

Celebrating 30 Years of the NHGRI Intramural Research Program

A Conversation with the 4 NHGRI Scientific Directors Website

A Conversation with the 4 NHGRI Scientific Directors (Video: Part 1)

A Conversation with the 4 NHGRI Scientific Directors (Video: Part 2)

53

Founding Director, NHGRI Center for Genomics and Data Science Research

54

Gene Therapies for Sickle Cell Disease Community-based Research Project

NIH Statement on New FDA-approved Gene Therapies for Sickle Cell Disease

NHGRI Sickle Cell Disease Gene Therapy Education Project

55

NHGRI Intramural Research Highlights

Lin 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"

56

NIH Intramural Fellows Vote to Unionize

57

‘One-Stop-Shop’ to Stay Connected

Last updated: February 11, 2024