The Consortium is supported by the leadership of the NHGRI Program Directors. An External Scientific Panel (ESP) is responsible for reviewing and evaluating the progress of the Consortium, and providing recommendations and advice to NHGRI. ESP members are senior scientists with relevant expertise who are not Principal Investigators in the Consortium. In addition to core members from Research Centers or sites that are funded by NHGRI, the Consortium also includes non-voting partner members who have been approved by the Consortium’s Steering Committee to participate in Consortium activities.
The GREGoR Consortium includes the following Committees and Working Groups:
The Steering Committee is the main governing body of the Consortium and is open to all GREGoR Consortium members. This group meets monthly to discuss Consortium planning and priorities, other seminars and extended webinars as scheduled, and gathers for an annual, multi-day in-person meeting.
This group determines research priorities for annual Opportunity Fund award announcements, and consults on the process for the review of OF applications and tracking of current OF awardees’ progress.
This group is responsible for establishing the GREGoR data model and related data standards to support the release of cohesive Consortium data sets consisting of phenotypic and molecular data contributed by member Research Centers, and provides a forum for sharing approaches to data processing and analysis to support the Consortium’s scientific goals.
Associated groups of the Data Standard & Analysis WG include:
- RNA-Seq User Group
- Data User Experience (DUx) Tiger Team
This group aims to leverage new technologies, multi-omics data types, and novel methods to accelerate variant discovery and mechanistic insights into rare diseases. This includes a focus on specific tasks such as applications of new genome sequencing technologies and analytic methods, data aggregation and joint variant discovery, application of multi-omics technologies, and functional modeling across GREGoR sites at the level of individual genes and scalable variant-to-function (V2F) modeling.
This subgroup focuses on facilitating experimental studies that corroborate candidate novel disease genes and elucidate variant function by connecting candidate genes and variants to functional assays available to GREGoR.
This subgroup is focused primarily on leveraging new technologies and multi-omics approaches to unravel the genetics underlying Mendelian diseases, and establishing benchmarks for those technologies.
This group is charged with identifying and addressing policy needs within the Consortium - including proposing, developing and refining policies to facilitate scientific collaboration within and across all funded centers.
This group focuses on projects that prioritize the perspectives and inclusion of research participants in GREGoR activities, including their engagement in the return of research results.