U24HG011746

University of Washington (UW) Mendelian Genomics Data Coordinating Center - Project Summary

Despite significant advances made in understanding the genetic basis of the more than 10,000 estimated Mendelian conditions in recent decades, further scientific collaboration and discovery is required to identify the full set of Mendelian diseases and their underlying genetic causes. To build on the success of the Centers for Mendelian Genomics by using further technological, methodological, and data-sharing innovations, NHGRI is establishing a new Mendelian Genomics Research Consortium.

As Data Coordinating Center for this consortium, we propose to further the discovery and characterization of Mendelian conditions by achieving four main aims.

(1) Managing the release of molecular and phenotypic data generated or collected by the consortium's research centers, featuring semi-automated and scalable quality control procedures that will validate incoming data against collaboratively-established standards and requirements. We will facilitate data sharing within the consortium and the broader scientific community by ensuring that curated data are submitted to appropriate repositories including AnVIL, ClinVar, and Matchmaker Exchange.

(2) Supporting program outreach through a consortium website that highlights program progress and discoveries and enabling connections among researchers, clinicians, and families. We will also oversee education, training, and mentorship opportunities.

(3) Coordinating logistics for the consortium, including organization of virtual and in-person meetings and administrative support for all consortium-wide activities.

(4) Overseeing an Opportunity Fund, administering up to 5 awards in each of years 2-5 of the consortium, to support novel and scalable approaches to functional follow-up on candidate variants.

To achieve these four main aims, we propose innovative approaches, including leveraging emerging cloud-based systems for the storage and analysis of human genetic data and integrating international data sharing standards to ensure that data is findable, accessible, interoperable, and reusable (FAIR). Furthermore, we bring a unique blend of expertise across the fields of data science, cloud systems, biostatistics, bioethics, clinical genetics, and Mendelian discovery to the consortium, and our application rests on 13 successful years of experience and expertise serving as coordinating or analysis centers for 7 large-scale genetic and biomedical projects.

Through support and coordination of this consortium, we will help yield the benefits of identifying the genetic basis of Mendelian conditions to support diagnosis, therapy, and further delineation of syndromes. Further public health benefit will accrue via biological insights into Mendelian diseases that also advance our understanding of related common, complex diseases.

University Of Washington

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]

Seattle, Washington 981951016 United States

Single Zip Code

Mendelian Genomics Data Coordinating Center (U24 Clinical Trial Not Allowed) (RFA-HG-20-008)

Amendment Since initial award the total obligations have increased 509% from $2,212,348 to $13,482,792.