The aim of the statistical bioinformatics seminar is to provide a forum for people working within the broad area of computation and statistics and their application to various aspects of biology to present their work and showcase their ongoing projects. It is intended to foster the exchange of ideas and build potential collaborations across multiple disciplines. The seminars will be held at 1:00 pm on Mondays at the Charles Perkins Centre, Seminar Room (Level 3, large meeting room). The format of the talk is 30~45 minutes plus questions. ’Meet and Greet’ and afternoon tea with the speaker This year, we will have a chance for further discussion between audience members and the seminar speakers in the following hour of the seminar (2:00 pm), with some light afternoon tea. *Monday March 26, 2018* *1:00 PM Seminar* *2:00 PM Meet and Greet with the speaker* *Level 3 Large Meeting Room* *Charles Perkins Centre* *Speaker: Kitty Lo (The University of Sydney)* Title: Novel alternative splicing in TDP-43 mutant mouse models of ALS Abstract: TDP-43 (encoded by TARDBP) is an RNA binding protein central in the pathogenesis of the neurodegenerative disorder amyotrophic lateral sclerosis (ALS). However, how TARDBP mutations trigger pathogenesis remains unknown. Here, we use novel mouse mutants carrying point mutations in Tardbp to dissect TDP-43 function. Interestingly, we find that TDP-43 C-terminal mutations lead to a gain of splicing function. Using two different strains we are able to separate TDP-43 loss and gain of function effects. This new gain-of-function induces a novel category of splicing events, here termed skiptic exons, in which skipping of constitutive exons occurs, causing expression changes. Our findings provide a novel pathogenic mechanism and highlight how gain- and loss-of TDP-43 function affect RNA processing differently, suggesting they may play roles at different disease stages. About the speaker: Kitty Lo is currently a bioinformatics postdoctoral researcher in the Faculty of Science. Prior to this, she was at the University College London and the UCL Institute of Neurology. She has also worked in a Cambridge based biotechnology startup where she developed cancer diagnostic tools using ctDNA. Kitty has a PhD in astronomy from the University of Sydney.