Supervisor: Dr Ceecee Britten-Jones
Email: ac.brittenjones@unimelb.edu.au
Suitable for: PhD

Inherited retinal diseases (IRDs) are rare genetic conditions affecting approximately 1 in 2,000 people, leading to progressive vision loss, often beginning in adolescence. IRDs are caused by variants in genes critical to retinal cell function.

Over 300 genes have been linked to IRDs, yet many individuals remain undiagnosed due to either unknown genetic changes or insufficient evidence linking specific genetic variants to their condition.

This project aims to identify and understand novel genetic mutations associated with IRDs that cause vision loss. Key objectives include:

• Sequencing and Analysis: Perform sequencing using techniques such as genome and long read sequencing and analyse data to identify novel variants in disease-associated genes.
• Bioinformatics and Computational Genomics: Apply bioinformatics tools to interpret genomic data and model gene function to better understand the genetic basis of IRDs.
• Functional Studies: Conduct experimental studies to assess the impact of genetic variants on retinal cell function.
• Integration of Data: Combine genetic data with clinical data (e.g., retinal imaging, clinical findings) to investigate how specific genetic changes cause different forms of IRDs, or how certain variants might modify the effects of others.
• Investigating Modifiers: Explore gene-environment interactions and other modifying risk factors relevant to IRDs.

Outcomes from this project will improve the diagnosis of IRDs, deepen our understanding of these conditions and contribute to the development of therapeutic approaches for affected individuals.

Techniques used in this project include genomic sequencing, bioinformatics and computational genomics, as well as molecular biology and functional assays (e.g., in vivo assays, RNA and protein assays, and cellular function assays).