Two University of Melbourne students have the opportunity to develop knowledge and experience in clinical bioinformatics while contributing to advances in this cutting-edge field, after being awarded bursaries from Melbourne Genomics.
The bursaries support projects in rare disease and cancer, investigating variant curation, detection and analysis. Variant curation (or interpretation) is the process of determining which changes in genes are harmless and which may be associated with health conditions. It presents one of the biggest challenges facing doctors and scientists working in genomics.
Bursary recipient Yuchen Chang will work on a new tool to aid variant curation in rare disease, supervised by Dr Miriam Fanjul-Fernandez and Dr Simon Sadedin from Victorian Clinical Genetics Services.
“My project is designed to help scientists find which part of the genome is most likely to have the disease-causing variant,” Yuchen explained. “It’s a prediction tool… When you find a variant, you can use this tool to predict whether it is likely to be disease-causing or benign.”
Yuchen graduated from Soochow University School of Medicine (in the city of Suzhou, China), with a major in Bioinformatics, before coming to Australia to undertake the University of Melbourne’s Master of Science – Bioinformatics degree.
Yuchen said she decided to study in Melbourne because there were more opportunities to learn about bioinformatics and genomics. She hopes to eventually take her learnings back to her home country, to help China’s people.
The ultimate goal of Yuchen’s project is to implement a new tool for use in laboratory workflows that could potentially be used worldwide.
The project offers an exciting opportunity to work in innovation and translation in clinical genomics – the new and important interface between genomic pathology, clinical bioinformatics and healthcare.
Bursary recipient Natalie Bartnik will identify and investigate analysis tools for use in cancer genomics, in a project led by Andrew Fellowes and Roxane Legaie at the Peter MacCallum Cancer Centre.
“I hope to identify areas where the current methods for detecting structural variation do not perform well and to find methodologies to improve these areas, providing better ways to analyse cancer genomic data,” Ms Bartnik said.
The bursaries, linked to the University of Melbourne’s Master of Science – Bioinformatics course, aim to attract early-career bioinformaticians to clinical work, to grow the new workforce needed to support genomics in mainstream medicine.
[Image: Bursary recipient, Yuchen Chang, will work to develop a new tool to aid variant curation in the rare disease space]