James Russ-Silsby

I am a postdoctoral researcher studying the genetics of neonatal diabetes, with a focus on identifying new monogenic causes and understanding their underlying mechanisms. My work combines genome sequencing, transcriptomics, and functional approaches to improve genetic diagnosis and disease insight.

I have contributed to the discovery of six neonatal diabetes genes, including first-author studies on PAX4, RNU4ATAC, and RNU6ATAC, and to the characterisation of additional genes, including ONECUT1 and ZNF808.

My current research involves analysing genome sequencing data from individuals with genetically unsolved neonatal diabetes to identify further disease genes. In parallel, I am developing approaches that integrate RNA sequencing and ribosome profiling to detect functionally relevant non-canonical transcripts that may be missed by standard analyses.

I also investigate disease mechanisms in ZNF808- and minor spliceosome-related diabetes, focusing on transposable element dysregulation and defects in RNA splicing.