U24HG000330

MOUSE GENOME DATABASE (MGD): A CORE KNOWLEDGE RESOURCE FOR FUNCTIONAL CHARACTERIZATION OF THE HUMAN GENOME - PROJECT SUMMARY AS THE COST OF GENOME-SCALE SEQUENCING CONTINUES TO DECREASE AND NEW TECHNOLOGIES FOR GENOME EDITING BECOME WIDELY ADOPTED, THE LABORATORY MOUSE IS MORE IMPORTANT THAN EVER AS A MODEL SYSTEM FOR UNDERSTANDING THE BIOLOGICAL SIGNIFICANCE OF HUMAN GENETIC VARIATION AND FOR ADVANCING THE EMERGENCE OF GENOMIC MEDICINE. THE MOUSE GENOME DATABASE (MGD) HAS A UNIQUE AND STRATEGIC ROLE AS A COMMUNITY RESOURCE FOR FACILITATING THE USE OF THE LABORATORY MOUSE FOR UNDERSTANDING GENOMICS UNDERLYING HUMAN BIOLOGY AND DISEASE. MGD SERVES THREE MAJOR USER COMMUNITIES: (I) BIOMEDICAL RESEARCHERS WHO USE MOUSE EXPERIMENTATION TO INVESTIGATE GENETIC AND MOLECULAR PRINCIPLES OF BIOLOGY AND DISEASE PROCESSES, (II) TRANSLATIONAL SCIENTISTS WHO USE THE LABORATORY MOUSE TO MODEL HUMAN DISEASE, AND (III) BIOINFORMATICIANS/ COMPUTATIONAL BIOLOGISTS WHO USE THE RICH INTEGRATED DATA MGD PROVIDES TO DEVELOP ALGORITHMS AND BIOINFORMATICS TOOLS FOR DATA ANALYSIS AND INTERPRETATION. DURING THE PROJECT PERIOD, WE WILL CONTINUE TO CURATE AND INTEGRATE NEW GENETIC, GENOMIC, VARIANT, FUNCTIONAL, PHENOTYPIC, AND HUMAN DISEASE MODEL DATA ESSENTIAL TO RESEARCHERS USING THE LABORATORY MOUSE IN BIOMEDICAL RESEARCH. WE WILL MAKE THESE DATA FREELY AVAILABLE THROUGH A VARIETY OF WEB-BASED AND PROGRAMMATIC USER INTERFACES. OUR CORE AIMS INCLUDE: (I) MAINTAINING THE CANONICAL CATALOG OF MOUSE GENOME FEATURES, (II) SERVING AS THE AUTHORITATIVE DATA FOR MOUSE FUNCTIONAL ANNOTATIONS, AND (III) MAINTAINING A COMPREHENSIVE CATALOG OF MOUSE MUTATIONS AND STRAINS AND THEIR PHENOTYPE AND DISEASE MODEL ASSOCIATIONS. TO SUPPORT OUR AIMS, WE WILL MAINTAIN COST-EFFECTIVE SOFTWARE, DATABASE, AND HARDWARE USING INDUSTRY BEST PRACTICES. WE WILL MAINTAIN MGD'S SECURE INFRASTRUCTURE THROUGH REGULAR MAINTENANCE, UPGRADES, AND PLANNED EVOLUTION. WE WILL LEVERAGE EXISTING SOFTWARE COMPONENTS FROM THE ALLIANCE OF GENOME RESOURCES AND OTHER RESOURCES WHERE POSSIBLE AND FOCUS OUR SOFTWARE DEVELOPMENT ACTIVITIES ON UNIQUE INFRASTRUCTURE NEEDED TO SUPPORT OUR CORE AIMS. TO ENSURE THE GREATEST IMPACT OF MGD IN THE BROADER SCIENTIFIC COMMUNITY, WE WILL PROVIDE ROBUST USER SUPPORT AND OUTREACH THROUGH ONLINE USER DOCUMENTATION, TUTORIALS, TRAINING WORKSHOPS, AND ONE-ON-ONE ASSISTANCE USING A VARIETY OF COMMUNICATION MODALITIES AND MAJOR SOCIAL MEDIA TOOLS. WE WILL ACTIVELY SOLICIT COMMUNITY INPUT, DATA SUBMISSIONS, AND COLLABORATIONS.

Jackson Laboratory

NHGRI SUPPORTS THE DEVELOPMENT OF RESOURCES AND TECHNOLOGIES THAT WILL ACCELERATE GENOME RESEARCH AND ITS APPLICATION TO HUMAN HEALTH AND GENOMIC MEDICINE. A CRITICAL PART OF THE NHGRI MISSION CONTINUES TO BE THE STUDY OF THE ETHICAL, LEGAL AND SOCIAL IMPLICATIONS (ELSI) OF GENOME RESEARCH. NHGRI ALSO SUPPORTS THE TRAINING AND CAREER DEVELOPMENT OF INVESTIGATORS AND THE DISSEMINATION OF GENOME INFORMATION TO THE PUBLIC AND TO HEALTH PROFESSIONALS. THE SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM IS USED TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO INCREASE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM IS USED TO FOSTER SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION.

93.172 - Human Genome Research

National Human Genome Research Institute (NHGRI) [HHS - NIH]

Bar Harbor, Maine 04609 United States

Single Zip Code

Genomic Community Resources (U24) (PAR-17-273)

Amendment Since initial award the total obligations have increased 327% from $3,415,011 to $14,591,061.