Wednesday, April 2, 2025
4/2/2025
The Musculoskeletal Knowledge Portal - Project Summary Most experiments to gain biological insights into musculoskeletal diseases or propose therapeutic targets do not harness critical information from human genetic data. In principle, researchers can use several existing genomic data repositories to incorporate genomic data into their research, but (a) for a researcher focused on musculoskeletal diseases and traits, many or most vital datasets are absent from existing repositories (which seek to be trait-agnostic); and (b) identifying, integrating, and analyzing the datasets needed for most genetic analyses requires extensive manual labor and expertise. To address these gaps, we have developed an early- stage resource, the Musculoskeletal Knowledge Portal (MSKKP), to enable broader sharing of genetic and genomic data for musculoskeletal diseases and traits. In this project, we propose to transform the MSKKP into an established biomedical knowledgebase satisfying the criteria of PAR-23-236, with the mission to integrate `omics datasets curated by experts in musculoskeletal research, process them through analytical pipelines developed by experts in genetics and genomics, and present the resulting knowledge through simple and easy to access web-based visualizations. We will focus on two gaps in the current early-stage MSKKP. First, to incorporate the numerous genomic datasets accrued by the international network of musculoskeletal researchers over the past decade, we will aggregate and integrate newly available `omics datasets in bone, cartilage, tendon, synovial fluid, and muscle, as well as data from unique model organism knockouts deeply phenotyped for musculoskeletal traits. Second, to better define the functionality and incorporated datasets of the MSKKP, and to ensure that it is accessible to a broad array of users, we will establish a transparent governance structure and build a trusted and sustainable infrastructure for it. The proposed knowledgebase has scientific significance, responding to an urgent need by the National Institute of Arthritis and Musculoskeletal and Skin Diseases to create a knowledgebase for musculoskeletal diseases that aggregates and integrates genomic datasets of many types in one accessible location. It will engage the musculoskeletal community in all aspects of the development cycle, ranging from data identification to quality control to knowledgebase functionality, and will conform to FAIR principles. Finally, it will be governed by researchers with diverse areas of expertise who collectively will ensure its trustworthiness. The impact of the proposed project will be an established knowledgebase providing basic and clinical scientists ready access to musculoskeletal genetic and genomic data, as well as the tools needed to integrate and apply these data to their own research questions. Growing the MSKKP into an established resource is a critical need for the musculoskeletal community and will help unlock the potential of human genetics to advance the understanding and treatment of musculoskeletal conditions.
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