Karen Alpen

This project will undertake a sex-stratified genome wide association study using a novel machine learning algorithm called DEPTH which can identify genomic risk regions missed by conventional GWAS methods.

Exploration of sex differences in genetic risk association of glioma

Karen Alpen

Principal supervisor: Enes Makalic
Co-supervisors: Miroslaw Kapuscinski, Rob MacInnis, Claire Vajdic


Prior genome-wide association studies (GWAS) have identified 25 susceptibility genomic loci for glioma, a rare and fatal brain cancer.  These regions account for around a third of estimated genetic risk of glioma, therefore a significant proportion of the genetic risk factors remain undiscovered.  Males have a higher incidence of glioma and this trend persists across all ages and ethnicities and even across species into canines.  The brain is one of the most sexually dimorphic organs in the body, displaying sex differences in both structure and function.  Is a portion of glioma's missing heritability hidden in sex-specific genomic risk regions?  This project will undertake a sex-stratified genome wide association study using a novel machine learning algorithm called DEPTH which can identify genomic risk regions missed by conventional GWAS methods.  Discovered sex-differences will be explored with the possibility of developing sex-specific polygenic risk scores (PRS).

PhD scholarship title and funding body:  Australian Government Research Training Program Scholarship