Federal Project Grant Award Summary

Carnegie Mellon University received a $2.26 million Project Grant from the National Human Genome Research Institute (NHGRI) under the Human Genome Research program (CFDA 93.172), awarded June 1, 2026, through May 31, 2030. The award supports the development of advanced computational methods to integrate multi-modal functional genomics data with genome-wide association studies (GWAS) findings to elucidate disease mechanisms. The research addresses current limitations in GWAS interpretation by creating computational tools that leverage diverse functional genomics datasets—including single-cell and spatial transcriptomics, chromatin accessibility, and regulatory data—to identify disease-critical genes, cell types, and cellular contexts at individual GWAS loci.

The project deliverables encompass three primary research objectives: (1) utilizing multimodal single-cell and spatial data to pinpoint disease-relevant cellular contexts with precision; (2) integrating functional regulatory data with causal inference methods to identify disease-critical genes and cell types at GWAS loci; and (3) developing graph foundation models capable of integrating diverse functional genomics datasets at scale while accounting for the heterogeneous structures of different data modalities. These computational innovations are intended to advance disease etiology understanding and accelerate therapeutic development by providing comprehensive, nuanced insights into the biological mechanisms underlying common genetic variants associated with human disease.