With World Sight Day coming up, it's great to catch up with the tremendous work that's going on at the center for research. Sarah. And on this occasion, under the spotlight is doctor C.C. Britton Jones. C.C., if I may call you that. Thank you for your time. Thanks for having.

With World Sight Day coming up, it's great to catch up with the tremendous work that's going on at the center for research. Sarah. And on this occasion, under the spotlight is doctor C.C. Britton Jones. C.C., if I may call you that. Thank you for your time. Thanks for having.

Me, Peter.

Me, Peter.

It's just about the work that you're doing. It's in the area of advanced genomic collaboration. Tell us a bit about what it is and what sort of conditions you're working on.

It's just about the work that you're doing. It's in the area of advanced genomic collaboration. Tell us a bit about what it is and what sort of conditions you're working on.

Our research is on better understanding what causes genetic eye diseases. So we work with people with a class of eye diseases called inherited retinal diseases. These are genetic conditions that generally cause vision loss from quite a young age. So they're a very major cause of vision loss of working age adults. And they normally onset in adolescence or sort of childhood or early 20s. Somewhere in that range can be quite variable, but they cause a person to slowly lose vision sort of over a number of years. And we know that these conditions are caused by a change in the genes. So in the genetics, that's what causes vision loss. And what our research is, is that we use different genetic testing techniques to try and understand what are the genetic changes that are causing these diseases. And really, the goal is to be able to better diagnose people with these conditions, understand what's causing them and get them then into emerging gene therapy clinical trials.

Our research is on better understanding what causes genetic eye diseases. So we work with people with a class of eye diseases called inherited retinal diseases. These are genetic conditions that generally cause vision loss from quite a young age. So they're a very major cause of vision loss of working age adults. And they normally onset in adolescence or sort of childhood or early 20s. Somewhere in that range can be quite variable, but they cause a person to slowly lose vision sort of over a number of years. And we know that these conditions are caused by a change in the genes. So in the genetics, that's what causes vision loss. And what our research is, is that we use different genetic testing techniques to try and understand what are the genetic changes that are causing these diseases. And really, the goal is to be able to better diagnose people with these conditions, understand what's causing them and get them then into emerging gene therapy clinical trials.

Now some of the conditions are things like retinitis pigmentosa and stargardt disease. Absolutely.

Now some of the conditions are things like retinitis pigmentosa and stargardt disease. Absolutely.

That's correct. So some of the most common types are retinitis pigmentosa, as you've mentioned, which generally causes peripheral vision loss first and then central vision loss a little bit later in the disease or stargardt disease, which is almost the opposite. That causes central vision loss first and then peripheral vision loss a little bit later. But not all of them sort of fall into these neat buckets. A lot of inherited retinal diseases, what we know are quite are quite variable. And so they can present with very different symptoms, very different rates of progression even within people of the same families or the same genes, and so they can be quite challenging to diagnose to start with.

That's correct. So some of the most common types are retinitis pigmentosa, as you've mentioned, which generally causes peripheral vision loss first and then central vision loss a little bit later in the disease or stargardt disease, which is almost the opposite. That causes central vision loss first and then peripheral vision loss a little bit later. But not all of them sort of fall into these neat buckets. A lot of inherited retinal diseases, what we know are quite are quite variable. And so they can present with very different symptoms, very different rates of progression even within people of the same families or the same genes, and so they can be quite challenging to diagnose to start with.

And so you're trying to work out why it is so. Why is it so that, you know, in say a family situation it might develop at different rates in different, you know, different people that have got it.

And so you're trying to work out why it is so. Why is it so that, you know, in say a family situation it might develop at different rates in different, you know, different people that have got it.

Exactly. That is absolutely something we're trying to understand. So number one is, you know, what are the genetic changes that might be associated with these diseases. And then once we have that and we have people sort of with all of the same conditions with the same genes, we then really want to figure out why do the same genetic changes or people with the same disease have very different rates of progression or manifest very differently.

Exactly. That is absolutely something we're trying to understand. So number one is, you know, what are the genetic changes that might be associated with these diseases. And then once we have that and we have people sort of with all of the same conditions with the same genes, we then really want to figure out why do the same genetic changes or people with the same disease have very different rates of progression or manifest very differently.

So even though you know which genes they are, you don't know why they impact the way they do. You know?

So even though you know which genes they are, you don't know why they impact the way they do. You know?

And some of the challenges is really because they are rare diseases. And so because inherited retinal diseases are less common, that a lot of the other eye diseases that we have, it can be very hard to get, you know, a lot of people with the same condition, with the same genetic causes to try and investigate. And another reason, I guess, why I've been involved in research is really, really important. And I guess.

And some of the challenges is really because they are rare diseases. And so because inherited retinal diseases are less common, that a lot of the other eye diseases that we have, it can be very hard to get, you know, a lot of people with the same condition, with the same genetic causes to try and investigate. And another reason, I guess, why I've been involved in research is really, really important. And I guess.

That's the kind of thing, you know, when it comes to things like research, you need kind of the the data, the weight of numbers, if I can say to kind of back up a thesis or back up an argument that you might be putting forward.

That's the kind of thing, you know, when it comes to things like research, you need kind of the the data, the weight of numbers, if I can say to kind of back up a thesis or back up an argument that you might be putting forward.

Absolutely. So, Peter, when we try and answer these research questions, for example, questions like, you know, how do these genetic changes lead to disease? Or why do these diseases manifest differently in different people? We really need evidence to support that. And the evidence really has to come from, you know, data of different people with these conditions so that we can conclusively or we can we have more evidence, um, to generate to try and answer some of these questions without that evidence, to support our hypotheses, without, you know, data to back that up, we really won't be able to develop new treatments and have more understanding of what causes these different eye diseases.

Absolutely. So, Peter, when we try and answer these research questions, for example, questions like, you know, how do these genetic changes lead to disease? Or why do these diseases manifest differently in different people? We really need evidence to support that. And the evidence really has to come from, you know, data of different people with these conditions so that we can conclusively or we can we have more evidence, um, to generate to try and answer some of these questions without that evidence, to support our hypotheses, without, you know, data to back that up, we really won't be able to develop new treatments and have more understanding of what causes these different eye diseases.

Now this kind of comes down to the heading of collaboration. So I'm thinking collaboration kind of, uh, you know, both in Australia but also internationally.

Now this kind of comes down to the heading of collaboration. So I'm thinking collaboration kind of, uh, you know, both in Australia but also internationally.

Yeah. Collaboration is such an important part of what we do. So we our team and also I know a lot of other teams at Sara as well, all actively try and collaborate with other researchers both within Australia and all around the world, particularly for us in genetic research and in rare diseases, genetic research collaboration is so important. And that is because one is that we do work with rare diseases, and so it can be quite hard to find a number of people from around the world, all with the same genetic changes that cause disease. And so what that means is that we really need to pull our data and resources from multiple centres to try and better understand some of these conditions better in the context of genetic analysis. The way that I always think about it is, you know, some of these conditions, in order to try and diagnose these diseases, in order to try and provide an answer to a family about what is the genetic change that causes their disease. Before that, we actually need to have identified about two, at least 2 or 3 other families from all around the world with exactly the same disease, with exactly the same changes in the genes, in the same genes, who all have the same condition, who have all been verified. All of that data need to be pulled together before we can actually give a new family a new diagnosis. And so identifying all of that can be quite challenging. And also another reason why so many people remain unsolved. It is because, you know, we simply just haven't got enough data together and enough families identified.

Yeah. Collaboration is such an important part of what we do. So we our team and also I know a lot of other teams at Sara as well, all actively try and collaborate with other researchers both within Australia and all around the world, particularly for us in genetic research and in rare diseases, genetic research collaboration is so important. And that is because one is that we do work with rare diseases, and so it can be quite hard to find a number of people from around the world, all with the same genetic changes that cause disease. And so what that means is that we really need to pull our data and resources from multiple centres to try and better understand some of these conditions better in the context of genetic analysis. The way that I always think about it is, you know, some of these conditions, in order to try and diagnose these diseases, in order to try and provide an answer to a family about what is the genetic change that causes their disease. Before that, we actually need to have identified about two, at least 2 or 3 other families from all around the world with exactly the same disease, with exactly the same changes in the genes, in the same genes, who all have the same condition, who have all been verified. All of that data need to be pulled together before we can actually give a new family a new diagnosis. And so identifying all of that can be quite challenging. And also another reason why so many people remain unsolved. It is because, you know, we simply just haven't got enough data together and enough families identified.

That's a rare disease. So the more if you like rare people, you can get in as many centers as you can. That kind of hopefully adds up to a bigger number to give you a bigger pool to kind of deduce your information from. Absolutely.

That's a rare disease. So the more if you like rare people, you can get in as many centers as you can. That kind of hopefully adds up to a bigger number to give you a bigger pool to kind of deduce your information from. Absolutely.

That's exactly right.

That's exactly right.

So how do you go about that? Because I know that having spoken to people from Sarah for many years on this program, fortunately. So it seems like there's a lot of willingness from the general public. The guy can call them that to kind of get involved with research, and it really is.

So how do you go about that? Because I know that having spoken to people from Sarah for many years on this program, fortunately. So it seems like there's a lot of willingness from the general public. The guy can call them that to kind of get involved with research, and it really is.

And we're very, very lucky. So in our group, we have a big database of people with different inherited retinal diseases. And that's something that we've built over the last 3 or 4 years. And so anyone with an inherited retinal disease who's willing to be a part of research, we then register them into our registry called the Venture registry. From there we try and collect different information about their condition. So things like, you know, when were they diagnosed, what gene have they paginated testing, how were they diagnosed and all that information. And then using that information, we then try and understand more about different inherited retinal diseases. We invite them to come into our clinic to learn more about their condition and the genes that causes them. And we also use this information to let them let them know about future clinical trials that then become available at Sierra or at other sites around Australia, if they want to be notified of those things. And so that's something that we've been building over the last four years. And that's really been really a rich, a really beautiful resource for us because it's really allowed us to connect with over 400 families now that have these different inheritable diseases. And this information is also really, really critical for us to involve people in research if they'd like to be. Um, and for us to learn more about these different conditions as well.

And we're very, very lucky. So in our group, we have a big database of people with different inherited retinal diseases. And that's something that we've built over the last 3 or 4 years. And so anyone with an inherited retinal disease who's willing to be a part of research, we then register them into our registry called the Venture registry. From there we try and collect different information about their condition. So things like, you know, when were they diagnosed, what gene have they paginated testing, how were they diagnosed and all that information. And then using that information, we then try and understand more about different inherited retinal diseases. We invite them to come into our clinic to learn more about their condition and the genes that causes them. And we also use this information to let them let them know about future clinical trials that then become available at Sierra or at other sites around Australia, if they want to be notified of those things. And so that's something that we've been building over the last four years. And that's really been really a rich, a really beautiful resource for us because it's really allowed us to connect with over 400 families now that have these different inheritable diseases. And this information is also really, really critical for us to involve people in research if they'd like to be. Um, and for us to learn more about these different conditions as well.

And I guess when you talk about the history of medicine, if you like, four years is not a long time. So in a sense, you're kind of still, you know, in the early stages of a putting your kind of groups of people together, but kind of, you know, uh, sort of deciphering information from it.

And I guess when you talk about the history of medicine, if you like, four years is not a long time. So in a sense, you're kind of still, you know, in the early stages of a putting your kind of groups of people together, but kind of, you know, uh, sort of deciphering information from it.

That's exactly right. And it is because of, you know, because of this database and because of the support that we've had from people with different inherited retinal diseases and also from different people, from families really wanting a genetic diagnosis and being motivated to participate in genetic research, that we're now able to build a new platform. And so that's one of the studies that I'm leading at the moment. It's one it's the genomic sequencing study and that we're very lucky to be supported by the Advanced Genomics Collaboration at the University of Melbourne in a partnership with Illumina. And what this study is allowing us to do is that it is allowing us to find new genetic changes that might be causing different inherited retinal diseases, and using new sequencing technologies to try and find these novel discoveries to get people into new treatments. And so that's some of the really exciting work that we're currently doing, that we're only able to really undertake this work because of the motivation that we've had for families being involved in the research and our our previous work with them as part of the.

That's exactly right. And it is because of, you know, because of this database and because of the support that we've had from people with different inherited retinal diseases and also from different people, from families really wanting a genetic diagnosis and being motivated to participate in genetic research, that we're now able to build a new platform. And so that's one of the studies that I'm leading at the moment. It's one it's the genomic sequencing study and that we're very lucky to be supported by the Advanced Genomics Collaboration at the University of Melbourne in a partnership with Illumina. And what this study is allowing us to do is that it is allowing us to find new genetic changes that might be causing different inherited retinal diseases, and using new sequencing technologies to try and find these novel discoveries to get people into new treatments. And so that's some of the really exciting work that we're currently doing, that we're only able to really undertake this work because of the motivation that we've had for families being involved in the research and our our previous work with them as part of the.

Reason why families want to get involved. Casey. Because it kind of might affect or impact upon their family planning. If I can say that they can kind of have a bit more of an idea of, you know, the relative chances of children that they may have be impacted as well.

Reason why families want to get involved. Casey. Because it kind of might affect or impact upon their family planning. If I can say that they can kind of have a bit more of an idea of, you know, the relative chances of children that they may have be impacted as well.

It really is. And so because we know with inherited retinal diseases, there's a very strong genetic generic course that we've talked about. In other words, in every person that has one of these inherited retinal diseases, that disease can usually be caused or attributed back to one gene or one change. And knowing that change is really, really important. One, as you said, it really does help us know more about, you know, information for family planning. But actually, funnily, a lot of our a lot of our participants aren't really aren't the ones, the ones who come into our study aren't always the ones who want to go into family planning pathways, because they usually would have had genetic testing already. So even beyond reasons for family planning, we know that, for example, people who are younger than that or who are older than that still want that genetic information. And so we think that wanting to find a diagnosis. Yes, the information is really helpful for family planning. The information also helps people know whether or not they might be eligible for future gene therapy clinical trials, because in order to know whether or not you're eligible for a treatment, you need to really know what gene is causing your condition to be eligible. You know, for for a treatment for that gene. But a third reason, which I really don't think is talked about enough, is that just knowing the answer is really, really powerful. So for someone with a rare disease or for any with any disease, just knowing what is causing your disease, knowing what the genetic causes and you know how that manifested and what it is, that's really, really powerful information. And that level of empowerment is not talked about enough.

It really is. And so because we know with inherited retinal diseases, there's a very strong genetic generic course that we've talked about. In other words, in every person that has one of these inherited retinal diseases, that disease can usually be caused or attributed back to one gene or one change. And knowing that change is really, really important. One, as you said, it really does help us know more about, you know, information for family planning. But actually, funnily, a lot of our a lot of our participants aren't really aren't the ones, the ones who come into our study aren't always the ones who want to go into family planning pathways, because they usually would have had genetic testing already. So even beyond reasons for family planning, we know that, for example, people who are younger than that or who are older than that still want that genetic information. And so we think that wanting to find a diagnosis. Yes, the information is really helpful for family planning. The information also helps people know whether or not they might be eligible for future gene therapy clinical trials, because in order to know whether or not you're eligible for a treatment, you need to really know what gene is causing your condition to be eligible. You know, for for a treatment for that gene. But a third reason, which I really don't think is talked about enough, is that just knowing the answer is really, really powerful. So for someone with a rare disease or for any with any disease, just knowing what is causing your disease, knowing what the genetic causes and you know how that manifested and what it is, that's really, really powerful information. And that level of empowerment is not talked about enough.

I think we can all identify with that because in a sense, it's a little bit about why me not not in a necessarily necessarily a negative sense. But, you know, people can probably think, well, hang on, you know, why am I the chosen one for this type of thing?

I think we can all identify with that because in a sense, it's a little bit about why me not not in a necessarily necessarily a negative sense. But, you know, people can probably think, well, hang on, you know, why am I the chosen one for this type of thing?

Yeah, exactly. And sometimes it's almost just like having, you know, an answer. Yeah, to a question that you've had in your life. And so yeah, that's that information can be really helpful as well. Yeah.

Yeah, exactly. And sometimes it's almost just like having, you know, an answer. Yeah, to a question that you've had in your life. And so yeah, that's that information can be really helpful as well. Yeah.

Probably really unfair question Stacy, but how's it going in terms of making progress? You know, I guess it's not, you know, something that happens overnight.

Probably really unfair question Stacy, but how's it going in terms of making progress? You know, I guess it's not, you know, something that happens overnight.

No, I really, really wish it was so.

No, I really, really wish it was so.

Your little your little smile then gave it all away. That was the that that kind of gave us the answer we thought we might get.

Your little your little smile then gave it all away. That was the that that kind of gave us the answer we thought we might get.

Look, I think I speak for, you know, all the researchers and everyone in this area that if we could wake up tomorrow just with the cure, um, we would all be very, very happy. I mean, I may be out of a job, but, you know, that will be. That's okay. That's something that I'm very, very willing to concede in. Yeah. Um, but I think with any research, it is a little step. You know, it's always one little step at a time. Um, and so it's not just about developing, you know, a treatment you could wake up with the best idea, but it's also about one finding different people, giving them a diagnosis before they can know if they're eligible for new treatments. Um, and when a new treatment is developed, it's making sure that it is tested, you know, very, very rigorously and making sure that it is safe. Um, and that it can actually have an effect, a positive effect in that sense. But also I think on a really positive note, I think we've come closer than we ever have before in developing treatments, Particularly for a lot of these genetic conditions. And that is because the field of genomics have changed more in the last, I think, five and ten years than it ever has been. You know, in 2003, the human genome was mapped for the first time. And about ten years ago in 2013, next generation sequencing, which is a type of genetic testing that can look at multiple genes at the same time, was really implemented in inherited retinal diseases. And so then, you know, in 2017, the world's first gene therapy treatment for any eye disease was approved by the US Food and Drug Administration. And so we have really, really looking back, we have seen progress. And so I think we can have hope for the future that hopefully all of these things that we have learned can help us find new, new treatments for these inherited retinal diseases. And it is still it is still slow. It is one step at a time. But I think collaboration and working together not only with other researchers, but also with different families who have inherited retinal diseases, is making a difference.

Look, I think I speak for, you know, all the researchers and everyone in this area that if we could wake up tomorrow just with the cure, um, we would all be very, very happy. I mean, I may be out of a job, but, you know, that will be. That's okay. That's something that I'm very, very willing to concede in. Yeah. Um, but I think with any research, it is a little step. You know, it's always one little step at a time. Um, and so it's not just about developing, you know, a treatment you could wake up with the best idea, but it's also about one finding different people, giving them a diagnosis before they can know if they're eligible for new treatments. Um, and when a new treatment is developed, it's making sure that it is tested, you know, very, very rigorously and making sure that it is safe. Um, and that it can actually have an effect, a positive effect in that sense. But also I think on a really positive note, I think we've come closer than we ever have before in developing treatments, Particularly for a lot of these genetic conditions. And that is because the field of genomics have changed more in the last, I think, five and ten years than it ever has been. You know, in 2003, the human genome was mapped for the first time. And about ten years ago in 2013, next generation sequencing, which is a type of genetic testing that can look at multiple genes at the same time, was really implemented in inherited retinal diseases. And so then, you know, in 2017, the world's first gene therapy treatment for any eye disease was approved by the US Food and Drug Administration. And so we have really, really looking back, we have seen progress. And so I think we can have hope for the future that hopefully all of these things that we have learned can help us find new, new treatments for these inherited retinal diseases. And it is still it is still slow. It is one step at a time. But I think collaboration and working together not only with other researchers, but also with different families who have inherited retinal diseases, is making a difference.

And how about in terms of people either getting in touch or you reaching out for people, is that sort of a constant thing that, you know, there's always kind of, uh, a chance for more people to get involved with research?

And how about in terms of people either getting in touch or you reaching out for people, is that sort of a constant thing that, you know, there's always kind of, uh, a chance for more people to get involved with research?

Absolutely. And so I think I mentioned our inherited retinal diseases registry in that registry. What we do is when people get in touch with us, we'll send them the study information. If they choose to sign on to the registry, they can really be as involved as they like. So we have, for example, interstate participants and some from New Zealand as well, who are on our registry, who we really just, you know, speak to whenever we can send them new research, things like research, surveys, interviews, because they aren't able to come in in person and we try and collect any information we can from their existing ophthalmologist or optometrist. We also then have people that do come in regularly for other studies. So, you know, they might come and come and, you know, once, even every few months for imaging studies, um, or for genetic sequencing studies or other studies. And so the level of involvement really is can be quite tailored depending on how available everyone is. But we very much would encourage everyone, if you're willing to, to be involved, because that is really how we move the field forward. And, you know, we're really working together to try and understand more about these conditions.

Absolutely. And so I think I mentioned our inherited retinal diseases registry in that registry. What we do is when people get in touch with us, we'll send them the study information. If they choose to sign on to the registry, they can really be as involved as they like. So we have, for example, interstate participants and some from New Zealand as well, who are on our registry, who we really just, you know, speak to whenever we can send them new research, things like research, surveys, interviews, because they aren't able to come in in person and we try and collect any information we can from their existing ophthalmologist or optometrist. We also then have people that do come in regularly for other studies. So, you know, they might come and come and, you know, once, even every few months for imaging studies, um, or for genetic sequencing studies or other studies. And so the level of involvement really is can be quite tailored depending on how available everyone is. But we very much would encourage everyone, if you're willing to, to be involved, because that is really how we move the field forward. And, you know, we're really working together to try and understand more about these conditions.

And contacting Sarah through the website is probably the best kind of starting point. Yeah.

And contacting Sarah through the website is probably the best kind of starting point. Yeah.

So you're very welcome. Anyone is welcome to contact Sarah through the website. And if it is an inherited retinal disease query that will usually be passed directly to our team. We also have a team email address that anyone can use to contact us directly. And this email address is open to not only anyone who's willing to participate in or want to learn more about the research or want to participate. But we also get, you know, emails from our clinicians. So ophthalmologist or optometrist, um, asking, you know, can I refer a patient to you or is this person potentially eligible if they're interested and that kind of thing. So anyone is welcome to email us. Um, so our email is I r d so the letter I r d at groups or groups. Dot uml u n I mlb.edu dot a u that's id@groups.uml.edu a u. But our information is also on the Australia website, so the Retina Australia website is excellent for finding out more not only about our research but also other research studies around Australia. And so a lot of our study information is currently on the Retina Australia website. If anyone would like to know more about it and our contact information is on there as well. All right.

So you're very welcome. Anyone is welcome to contact Sarah through the website. And if it is an inherited retinal disease query that will usually be passed directly to our team. We also have a team email address that anyone can use to contact us directly. And this email address is open to not only anyone who's willing to participate in or want to learn more about the research or want to participate. But we also get, you know, emails from our clinicians. So ophthalmologist or optometrist, um, asking, you know, can I refer a patient to you or is this person potentially eligible if they're interested and that kind of thing. So anyone is welcome to email us. Um, so our email is I r d so the letter I r d at groups or groups. Dot uml u n I mlb.edu dot a u that's id@groups.uml.edu a u. But our information is also on the Australia website, so the Retina Australia website is excellent for finding out more not only about our research but also other research studies around Australia. And so a lot of our study information is currently on the Retina Australia website. If anyone would like to know more about it and our contact information is on there as well. All right.

We'll put that up on our Facebook page so people can also go there. And they can always call us here at the station if they've missed any of those details. CC I'm always inspired and just fascinated by the incredible work that's going on at Sarah. You've certainly added to that. Thanks so much for some time.

We'll put that up on our Facebook page so people can also go there. And they can always call us here at the station if they've missed any of those details. CC I'm always inspired and just fascinated by the incredible work that's going on at Sarah. You've certainly added to that. Thanks so much for some time.

Thank you Peter, thank you for having me.

Thank you Peter, thank you for having me.

That's doctor CC Britton Jones. Wow. It's amazing isn't it. To the work that's going on in the area of inherited retinal disease.

That's doctor CC Britton Jones. Wow. It's amazing isn't it. To the work that's going on in the area of inherited retinal disease.