Eligible Student Poster 49th Lorne Conference on Protein Structure and Function 2024

The Silent Threat: Genetic Mutations and Cardiotoxicity Risk (#109)

Saba Iftkhar 1
  1. University of Queensland, St Lucia, QLD, Australia

Cardiovascular (CV) diseases are responsible for millions in deaths and billions of dollars in economic burden in many countries around the globe. There are many environmental and genetic risk factors contributing towards this number. In my PhD project, I am looking at some of these risk factors. For the first year I worked on cardiotoxCSM (https://biosig.lab.uq.edu.au/cardiotoxcsm/) where I looked at small molecular drugs involved in cardiotoxicity. Currently, I am looking at the genetic factors, in particular mutations in two proteins namely MYH7 and MYBPC3 which are responsible for a large number of CV related complications, morbidity and mortality. The data on the SNPs was collected from literature with more data points for MYH7 protein available. After data preprocessing, the filtered data was used to calculate various structural as well as sequence based features including graph-based to generate machine learning model. At this point, I have preliminary results on the ML model but will update the abstract with concrete findings in upcoming weeks.