This webinar took place on Thursday, 17 October. Dr Gavin Arno explored the role of genetics in inherited retinal disease.
Dr. Arno is the Associate Director for Research at Greenwood Genetic Center in Carolina, US, and an Honorary Senior Research Fellow at the UCL Institute of Ophthalmology. He shared his expertise, answered common questions about genetics and eye disease, and reflected on the role Fight for Sight played in his career development.
The webinar recording is a must for:
- Anyone directly impacted by genetic eye disease
- Families impacted by inherited retinal disease
- Fellow researchers in the field
- Potential research funders
- Anyone considering applying for research funding
About the Speaker
Dr Gavin Arno is an Honorary Senior Research Fellow at the UCL Institute of Ophthalmology.
Over the past 12 years, his laboratory has made significant advances in the field of ophthalmic genetics and genomic analysis of inherited eye disease (IED).
This has included pioneering the use of whole genome sequencing for inherited retinal disease genetic analysis as part of the UK’s National Institute for Health Research (NIHR) Bioresource study and the 100,000 Genome Project.
His work has provided answers for many people whose families are impacted by Genetic Inherited Disease.
Watch the recording of the webinar
This is a recording of a live event. You can skip through to 04.36 for the beginning of the webinar.
Webinar highlights - Q&A with Dr Gavin Arno
Emma Blamont, Head of Research and Programmes (EB): Please introduce yourself and explain your current and previous roles.
Dr Gavin Arno (GA):
"I am the Associate Director for Research at Greenwood Genetic Center in Carolina, in the US. We are a clinical and research Institute [and] a nonprofit organization. Our work aims to provide genetic testing and care for patients in South Carolina and beyond.
"I've been here for six months; my lab is up and running. I've got my PhD student from London here at the moment. He's with me for the next four months. I hold an honorary post at the Institute of Ophthalmology. I have a research lab there and still work closely with my colleagues at Moorfields Eye Hospital. Before I came here. I was the senior scientist for the genetics department at Moorfields Eye Hospital."
EB: You received an early career research award from Fight for Sight. How instrumental do you think that was in setting up and accelerating your career?
GA: That was awarded in 2017, enabling me to establish my research program. Previous to that, I was a postdoctoral scientist doing really exciting work. But I was working on other people's projects and developing my ideas towards independence.
The Early Career Investigator Award enabled me to set up my lab, start exploring new avenues of research, and develop those ideas further.
That award funded my laboratory, at least in part, for five years.
During those five years, I established myself as a leader in ophthalmic genetics. I could establish a global collaborative network with many other labs in Europe, the States, and Japan, develop ideas with them, and collaborative projects.
This really launched my academic and professional careers.
More information
“We hear a lot from patients how important that is to them – just being able to put a gene name to their disease is therapeutic.”
EB: You've worked extensively with data from public initiatives like the 100,000 Genomes Project. How important are these to advancing research, and how can newer prospective studies like Our Future Health further benefit research?
GA: I was privileged to work on the precursor to the 100,000 Genomes Project, the NIHR BioResouurce Rare Disease Study.
It was a large-scale whole genome sequencing project to examine the causes of rare diseases. About 700 patients from Moorfields Eye Hospital were included in it. Working on that project benefitted our research and the patients at Moorfields, as several gene discoveries were made.
Many new diagnoses were made, and many new genes were found that cause retinal dystrophies. These all fed back into the diagnostic lab and were included from that point onwards in all clinical testing for inherited eye diseases. And that kind of that was a global leading project.
EB: How did that research benefit patients?
GA: Patients are getting diagnoses from these projects, but they're also building towards a better diagnostic pipeline for all patients subsequently tested. Before whole genome sequencing was available, we had a diagnostic yield of about 40 per cent of patients getting a positive genetic test back - now, around 70 to 80 per cent of patients with retinal dystrophy get a positive genetic test.
Genetics and the eye
Read our short guide to how inherited disorders can be passed on through families, including an explanation of how eye diseases pass down through families.
EB: To what extent does advancing our understanding of genetics and eye disease hold hope for treatments or interventions?
GA: Much of the development of therapies at the moment is around things like gene therapy, which is a really exciting area of research. There are many different gene-targeted therapies in trial.
As we can understand the genetics, not only the individual genetic cause of disease, but all of the other genetic contributors to that disease, then this will open new pathways to things like genetic modifiers and not necessarily having to target the individual gene but being able to target modifiers that will work across many different retinal dystrophies.
EB: What has been your career highlight to date?
It's been a unique experience and a privilege to be part of groundbreaking projects like the NIHR Bioresource, the first of its kind in the world. It was also a privilege to be the lead scientist for the retinal dystrophy part of that project.
The highlight for me is now because we are in a time where genomics is changing rapidly. This is the most exciting moment for a scientist working now in genomics.
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- 400
- There are over 400 different genetic causes of inherited retinal disorders, with two of the most common conditions being Retinitis Pigmentosa and Stargardt Disease.
EB: What do you see as the biggest breakthrough in the genetic pipeline for inherited eye diseases in the next five years?
GA: I think it will be long-read sequencing and the application of multi-omics investigations to genetic diseases.
"That's a complicated statement. So, I'll just try to clarify a few of those things. Currently, we do genetic testing by taking the three billion-letter genome and smashing it into tiny pieces that are 150 letters long. We sequence those, and then we try to put it all back together again.
"That's hard to do; putting it back together again fails. For very large regions of the genome, including genes that are very relevant to retinal dystrophy genetics. RPGR, another cause of X-linked retinopathy, has a region in it that's really hard for us to put it back together again.
"Long read sequencing. works differently. It doesn't smash the genome up at all. It means we can sequence very large chunks of DNA in the millions of base pairs long, the millions of letters long. We can sequence single molecules of DNA in that way.
That means the assembly, again, is much less complicated if you imagine it as assembling a complicated, difficult 5000-piece jigsaw compared to assembling the same jigsaw that only has nine pieces; for example, it's a much easier experiment to do."
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