Mutation Station: Understanding Genetic Glitches

Ever wondered how mucus gets removed from your airways or why your heart is on the left? Say hello to the hardest working organelles in the body, the motile cilia. These tiny hairlike cylinders project from the surface of cells and literally wave liquid away. This talk will highlight how we've been studying a rare genetic condition in which cilia movement is seriously disrupted. Through this work, we've pinpointed a group of patients carrying mutations in a gene crucial for making an incredibly common "building block," surprisingly vital for the formation of a specific subset of cilia.

Tumour DNA is perfectly messy. The instructions that keep our bodies healthy have been deliberately shredded and stuck back together by a determined toddler with quickly drying porridge. But is there a method to this genetic chaos? Retracing the tumour’s steps to the summit of ovarian cancer chaos, makes it clear that understanding the intent behind larger-scale changes (structural variants), and when to make them, is like trying to find our way through a blizzard with an ancient compass. Could understanding these structural twists be the key to improving patient survival and tailoring treatments?