Challenging corners of the human genome is where Dr Benjamin Nash and his team are set to explore, in the hope of providing patients with inherited retinal dystrophies (IRDs) a long-awaited genetic diagnosis. 

Dr Nash, Hospital Scientist working in Molecular Genetics, Sydney Genome Diagnostics at The Children’s Hospital at Westmead (CHW), has been announced as the winning recipient of the 2023 PacBio Revio HiFi Sequencing Grant Opportunity by the Australian Genome Research Facility (AGRF). 

This entitles Dr Nash’s team access to long-read sequencing technology to support their research project ‘Precision Medicine in the Inherited Retinal Dystrophies (IRDs) using Long Read Sequencing’. 

IRDs are a group of genetic eye conditions that affect the retinal cells from functioning properly, leading to vision loss from birth, or gradually over time. There is a significant burden worldwide, with the most frequent disease-causing genes having high carrier frequencies of up to one in 25 individuals. 

Current diagnostic genomic-testing strategies provide an answer in about half of IRD families examined but through this research, Dr Nash is paving the way to improving this outcome. 

This exciting project will apply new genomic long-read sequencing technology to IRDs, so we’re unlocking previously unreachable corners of the human genome for clinical testing,” Dr Nash said. 

“Importantly, it will allow us to span the gaps of the genome which exist using current approaches so we can directly examine genes that have therapeutic options available for patients with a confirmed diagnosis. Not only will the findings create avenues for clinical management and therapeutic options for the families involved, but also open possibilities for other genetic diseases. 

“I am very grateful to have been awarded this grant, it is an exciting time in the lab and we expect this work to make a significant difference to our diagnostic capability in this area.” 

Congratulations to Dr Nash and his colleagues within Sydney Genome Diagnostics (SGD) and Children’s Medical Research Institute (CMRI) on this achievement. 

The SGD Laboratory and the Eye Genetics Research Unit (EGRU), work closely in collaboration to translate new genomic technologies to the clinic for the benefit of patients and families with genetic eye conditions. Together these teams provide a comprehensive diagnostic and research approach to IRDs, with their work leading to the Australian-first delivery of publicly funded ocular gene therapy, as well as clinical trials in the IRDs.