This project aims to identify novel FHM genes by undertaking an NGS screen of the whole exome of 209 FHM patient samples.
We will test the pathological relevance of detected novel mutations by functional analysis in human cell models and using patient-specific stem cell techniques.
Using whole genome NGS technology to identify novel mutations will assist in the design and development of a comprehensive NGS approach to diagnose and differentiate this severe neurological disorder.
National Health and Medical Research Council
2016 – 2018
Queensland University of Technology