The project aims to develop a novel fluorescence imaging technique to accurately quantify repeat sequences in pathogenic genes, initially targeting Fragile X Syndrome (FXS). Current diagnostic approaches for FXS are slow and error-prone, leading to delays in diagnosis and timely intervention. This innovative method employs advanced single-molecule fluorescence imaging combined with sophisticated image analysis techniques, addressing significant limitations in existing diagnostics.

The PhD candidate will establish and validate this new approach using patient samples provided by industry collaborator Genepath, ensuring direct clinical relevance. A key outcome of the project will be a prototype diagnostic device collaboratively designed with Genepath engineers for practical clinical application.

The resulting technology not only promises earlier and more accurate FXS diagnosis but also serves as a versatile platform adaptable for diagnosing other genetic disorders, facilitating future commercialisation and significantly enhancing patient outcomes.

How to apply:

For more information about this project please contact Till Boecking (till.boecking@unsw.edu.au

School / Research Area

Medicine and Health