SANFORD RESEARCH GRANT
July 31, 2020
The goals of our current research grant is to generate novel genetically engineered mouse models (GEMMs) of BPAN. Since BPAN results from reduced expression of the WDR45 gene, the first GEMM will use a knockout approach to replicate the loss of function observed in BPAN patients. The second GEMM will produce a WDR45 protein fused to BioID and will thus enable the identification of the proteins operating in the vicinity of WDR45 in vivo. This will allow the identification of key molecular pathways involved in BPAN disease.
This approach will rely on the iGONAD technique, consisting in the combination of CRISPR technology, together with in utero electroporation one day following fertilization.
The COVID pandemic did not deter us from doing experiments related to this project. Of note, the success of the current experiments conducted in the lab have been inspiring, and will enable us to attack BPAN questions with another angle in future research.