TDAI Faculty Member Qin Ma and his research team have received a new five-year National Institutes of Health (NIH) R24 grant to advance research on congenital heart defects in Down syndrome. The award supports an interdisciplinary effort to better understand how trisomy 21, the extra copy of chromosome 21 that causes Down syndrome, disrupts early heart development and contributes to the structural heart defects that affect approximately half of individuals with the condition. This award advances TDAI's commitment to interdisciplinary research by bringing together experts in artificial intelligence, biomedical science, and computational biology to develop innovative methods for analyzing complex biological data and accelerating discoveries that improve human health.

The project will combine patient-derived induced pluripotent stem cells (iPSCs), genetically engineered mouse models, and cutting-edge single-cell and spatial transcriptomics to examine heart development at unprecedented cellular resolution. By integrating these complementary approaches, the research team aims to uncover the cellular and tissue mechanisms that drive congenital heart defects in Down syndrome, providing new insights into the genetic and developmental processes underlying the disease.

As part of the project, Ma's team will also develop and publicly share the first open-access single-cell and spatial atlas of human and mouse trisomy 21 hearts through the INCLUDE Experimental Models of Down Syndrome (EMODS) portal. This comprehensive resource is expected to support researchers worldwide by accelerating discoveries into the causes of congenital heart defects in Down syndrome and advancing future biomedical research.