Congratulations Dr. Benjamin Nash: Winner of the 2023 PacBio Revio HiFi Sequencing Grant Opportunity

We are thrilled to announce that Dr Benjamin Nash has been named as the recipient of the 2023 PacBio ANZ Revio HiFi SMRT Grant! Ben’s project, titled “Precision medicine in inherited retinal dystrophies (IRDs) using long read sequencing.” has captured our attention and admiration and we are delighted to be working with Ben and his team.

We received a very large number of high-quality proposals, making the selection process highly competitive.  Our sincere appreciation goes out to everyone who dedicated their time and effort, and we thank you for your interest in this grant opportunity.

Inherited Retinal Dystrophies (IRDs)

The retina is like a camera film at the back of your eye, capturing images and light signals and sending them to your brain for interpretation.[1]  For some, a genetic eye condition known as Inherited Retinal Dystrophy (IRDs), stops the retinal cells from functioning properly leading to decreased vision over time.  IRDs are a leading cause of blindness with recent prevalence estimates of approximately 1 in 1,400 people affected.[2] Gene therapies are available or in development, however patients require a precise genetic diagnosis before embarking on these treatments.

Ben’s project aim is to perform phased whole genome sequencing in partially solved patients with IRDs on diagnostic genomic testing.  By harnessing the power of the PacBio Revio long read sequencing system, Ben aims to unlock the genetic mysteries of IRDs by investigating “difficult to sequence” regions of the human genome and pave the way for more precise genetic diagnosis.  His ultimate goal is to facilitate access to personalised clinical management programs and provide avenues to therapeutic options for the families involved.  “The current diagnostic rate of IRDs is only about 50%” Ben explains. “By using the PacBio Revio HiFi technology we expect to make a significant difference to diagnostic capability.”

About Dr. Benjamin Nash:

Congratulations Dr Benjamin Nash for his proposal titled Precision Medicine in Inherited Retinal Dystrophy (IRDs) Using Long Read Sequencing.

Dr Benjamin Nash is a hospital scientist with over 15 years’ experience working in the Sydney Genome Diagnostics (SGD) laboratory (Molecular Genetics and Cytogenetics), Western Sydney Genetics Program, The Children’s Hospital at Westmead, Sydney Children’s Hospitals Network. Ben completed a PhD with the Eye Genetics Research Unit (EGRU), Sydney Children’s Hospitals Network and Children’s Medical Research Institute, University of Sydney, investigating genomic and functional genomic approaches in achieving a molecular diagnosis in the Inherited Retinal Dystrophies (IRDs). In his project Ben applied whole genome sequencing and focussed genomic assays, as well as functional genomic approaches including RNA studies in human induced pluripotent stem cells differentiated to retinal epithelial cells (hiPSC-RPE) and mini gene assays to provide genetic diagnoses for patients with IRDs. This work resulted in the successful implementation of an exome based sequencing approach to diagnostic testing for IRDs in the SGD laboratory, SCHN. Ben is also an Adjunct Senior Lecturer in the Specialty of Genomic Medicine, Sydney Medical School, University of Sydney where he actively contributes to ongoing research and teaching commitments.

The SGD Laboratory and the EGRU work closely together to translate new genomic technologies to the clinic for the benefit of patients and families with genetic eye conditions. The SGD laboratory encompasses Molecular Genetic and Cytogenetic services and performs state-wide diagnostic testing using a variety of genomic techniques in constitutional, prenatal, and acquired settings. In advancing diagnostic testing in the IRDs, the SGD laboratory collaborates with the EGRU, Children’s Medical Research Institute, Sydney Children’s Hospitals Network and Save Sight Institute, University of Sydney. The EGRU is focused on applying genomics, transcriptomics, functional genomic stem cell studies and development of novel genetic therapies for blinding genetic eye diseases. 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.

A special thanks to our partners, PacBio and Millennium Science, and we look forward to working on this exciting project together..

References:
[1] Centre for Eye Research, Australia, accessed 17 August, 2023, https://www.cera.org.au/conditions/inherited-retinal-diseases/
[2} Hanany et al, PNAS, 2020 Feb 4;117(5):2710-2716

“Findings from this PacBio Revio Project will facilitate access to personalised clinical management.”

- Dr Benjamin Nash