Drs. Melissa Haendel (Sarah Graham Kenan Distinguished Professor, Genetics) and Courtney Thaxton (Associate Professor, Genetics) received a new U24 award from the National Human Genome Research Institute for their project titled “Mondo: A community consensus knowledgeable for computational disease definitions”.
The study proposes to mature the reconciliation and integration of disease knowledge, leveraging mechanistic characterizations and case-level data as well as leveraging expert clinical review and modern AI methods to enhance curation. All provenance of sources will be encoded computationally and attributed to individuals and expert groups, and the study will provide Mondo artifacts, such as a file with preferred labels, for different community applications. They will evaluate Mondo advances in multiple diagnostic settings, demonstrating the diagnostic efficacy of having unified disease definitions. Finally, they will advance community governance and engagement through innovative events and processes, ensuring wide adoption and contribution. Interoperability across systems will support the democratization of genetic disease knowledge and advance precision and genomic medicine for all.