Daniel Bauer

Advancing targeted therapy for Shwachman-Diamond syndrome through prime editing

Shwachman-Diamond syndrome (SDS) is caused by mutations in the SBDS gene and carries a high risk of bone marrow failure, acute myeloid leukemia, and myelodysplastic syndrome. There are currently no targeted therapies for SDS. This project builds on proof-of-concept data demonstrating the feasibility of a novel prime editing approach to treat SDS. The proposed work will advance this ex vivo gene editing strategy toward clinical trials by generating additional preclinical data, including genotoxicity studies, to support a pre-IND meeting with the FDA. The longer-term vision is to develop this approach into a gene-editing platform for other inherited blood and immune disorders.