Discovery and characterisation of repeat expansions in ataxia and complex disease

• PhD

Repeat Expansion disorders (REDs) affect 1 in 3000 people worldwide and disproportionally cause neurodegenerative genetic conditions, including cerebellar ataxias. Our team has made highly impactful discoveries of two novel REs that together account for ~30% of unsolved adult-onset ataxia in Australia.

This project aims to: 1) discover novel repeat expansions causing disease, and 2) explore the polygenic risk factors that modify repeat expansion disease presentation. The successful candidate will work as part of a multi-disciplinary team in the ataxia research program. The analysis will be performed on a unique and growing Australian ataxia cohort of >500 genomes and on additional data from large-scale genomic biobanks, including the UK Biobank, Genomics England, and AllofUs. The candidate will develop expertise in bioinformatics and statistical genomics within a collaborative, internationally connected research environment.

The Bahlo lab’s work is focused on the identification and understanding of genetic risk factors involved in neurological and retinal disorders. We are a computational biology lab (dry lab only, no lab work) with about 17 members from diverse backgrounds. We have lab meetings every week on Tuesdays at 1 pm and all students speak several times a year. We are a highly collaborative group and we have regular lab lunches. We have access and experience with multiple large-scale biobanks and maintain a lab GitHub page with our tools (https://github.com/bahlolab).

We work highly collaboratively with clinicians and molecular biologists and have access to whole genome sequencing from several large-scale patient cohorts, particularly in ataxia and epilepsy.