Federal Grant Award Summary

The Johns Hopkins University received a $169,020 Project Grant from the National Heart, Lung, and Blood Institute (NHLBI) under the Cardiovascular Diseases Research program (CFDA 93.837), effective May 1, 2026 through April 30, 2031. This research initiative focuses on developing genome editing therapeutics to treat aortic aneurysm complications in Marfan Syndrome (MFS), a prevalent hereditary connective tissue disorder characterized by pathogenic variants in the FBN1 gene. The research will deliver scientific products including identification and validation of prime editing strategies to correct the FBN1 C1041G pathogenic variant in aortic vascular smooth muscle using murine disease models, with monitoring of aortic aneurysm progression as a primary outcome measure.

Additionally, the grant will produce computational and functional evaluation products, including a machine learning model designed to identify promoter variants, enhancers, and transcription factor binding sites within the FBN2 promoter region that predict enhanced FBN2 expression, alongside functional validation data from massively parallel reporter assays and in vivo genome editing studies. These research deliverables aim to reduce aortic root dilation and dissection risk in Marfan Syndrome patients, thereby addressing a major cause of disease-related morbidity and mortality. The performance location is Baltimore, Maryland, where Johns Hopkins maintains substantial biomedical research infrastructure and cardiovascular research capabilities.