RNA splicing is an essential process in all human cells. RNA splicing takes bits of information from our genes and combines them together to make many different proteins required for correct organismal development and function. The RNA splicing process can be likened to a film editor splicing together the frames of a film; the frames must be put together precisely for the film to make any sense.
RNA splicing can go wrong and approximately one third of all human disease causing genetic mutations affect RNA splicing. Our research at Manchester University focusses on how RNA splicing can, at times, go wrong in certain diseases. In my talk, I will describe how RNA splicing works, the cellular models we are using to investigate diseases that affect RNA splicing and how defects in RNA splicing can be treated.