welcome welcome uh to another macul and Me session um it's our second uh stream uh these days uh with the AMD on the third Tuesday but this is we have a sort of a more working age Focus so it's about you know conditions that affect sort of younger people as a whole and um and we talk about aspects of of those of those things um so we're joined this evening uh by some U lovely people from from researchers and a genetic counselor from Northern Ireland who I'll introduce in a moment um as always uh
you we're on a full webinar package which means you can't unmute yourself or share any screen so all you got to do is settle back uh enjoy the conversation and and the update from from our speakers um but we really encourage you to join in so if you want to ask the speakers any questions uh just pop them in the chat um and they'll be be read out uh a bit later on after the uh after the presentations um as you may or may not know these uh these webinars now get turned into podcasts um which is a
vailable on all good podcast packages uh or platforms rather um so you can uh listen back at your leisure if you don't have a chance to listen to all this evening um and Al as always this will also be on on the website uh in a week or so after it's been sort of toed and tailed and and tied up with a bit of editing um for for the website um so we're joined as normal uh really as usual by Jerry the research manager from the macula society hello Jerry hi everybody how you doing are you okay yes fin
e thank you perfect brilliant okay um well maybe we can have a little chat about some back sorry research bits and pieces if we have a bit of time at the end um and also there's a patient uh who's my PA support worker she's just in the background sort of making sure everything runs smoothly um so uh so this evening we've been joined by two people which is which is unusual but great uh less time I have to talk it's brilliant um to you from the Northern Ireland Research Institute I hope I got that
right uh I I read it about four times on the website but I'm a be very little brain and and I forget things really quickly um so we're joined by uh research hrist um Shelly black and her colleague um a genetic counselor CLA Kirk so good evening guys how are you good evening hello hello thanks for having us no problem you're more than welcome well I think without further Ado we've done the housekeeping um I'll just put myself on mute and um over to you guys so thanks very much thank you I'm just
gonna share my screen here let's see so hopefully you should all be able to see my screen here y looking good yeah all good excellent so yes um like like uh Colin said there um my name is Shelley black I'm one of the research optometrist at the Northern Ireland clinical research Network um in obviously in Northern irland and I'm joined by lovely CLA Kirk he's our register genetic counselor um tonight um we're going to be talking to you about um inherited retinal degenerations also known as inhe
rited retinal diseases or distres depending um what terminology you use um and also some some of our mular research that we're doing um so I'm going to talk first and then Claire's going to give you all the good stuff and then I'll kind of wrap up at the at the end if that's okay um so let's see okay so first of all um I'll just give you a bit of a run three of the order of why we're going to talk about things so um first little bit is just really why research is important um not only to um peop
le with vision loss but just in in general really and I think we've learned a lot about that over the last tramatic few years with with coid and all the fa thingss Etc um also then I'm going to talk about the nicn and what we actually do and what our roles are um and then CL I'm G to pass over to our lovely Claire and she's going to talk a little bit more about um the irds the importance of genetic testing um and it'll be back to me again just to talk about some of our current studies and how yo
u can get involved in research if that's something that you're interested in doing so um first of all the reason why um research is um not only important but necessary um it's to learn more and to answer questions about the unkn so it's not just about um a new treatment and how it works and if there's any side effect effects which is I think what maybe most of us think about when we think about research um it's also to um um maybe monitor a disease over time because maybe there's not enough info
rmation to then develop the treatment so um that's really a key thing we have to look at these studies would generally last a bit longer maybe it could be 5 to 10 years um depending on the type of disease and the type of the usual progression um as well as that you know there may already be a treatment but research is important to find out you know is there a better treatment is there one that's more efficient is there one that's more cost effective you know with the National Health Service as i
t is at times if it can anything can reduce um patient Wess reduce time and be more efficient than sure we're all winners with um and then finally when there isn't a treatment currently available for a disease research is important to see if there's any um kind of device or anything that can help improve quality of life and reduce symptoms so the northern Orland clinical research Network so um it's basically a a delivery platform um for research um we work within the NHS within the Belfast um He
alth and Social care trust at the Royal Victoria Hospital in belf class and because we are um in an NHS setting it means that we can provide patients with the opportunity to participate and benefit from the latest clinical research and the results and from um the studies that we perform can help um Advance clinical practice and provide an Evidence base um to um improve treatments so the NN doesn't work alone and we partner with um the universities within Northern irland that would be queens and
bster University um and then also in their wider um Partners in the UK with the UK clinical research collaboration public health agency and um obviously patient and client councils as well um so the network doesn't just look at um Vision research um covers all areas so um child health critical care diabetes Primary Care resp Health Etc and many many more um but this is the NC orn uh Vision team so not just me if it was not much we get done um we have um in the bottom left hand corner we have the
uh Professor Jonathan Jackson um who's our consultant optometrist and on the right way have Professor Jill sylvestri um who's our consultant um opthalmologist they're both the the leads for our vision team and they're the ones driving the the vision research within the Belfast trust um within the team we have obviously optometras like myself um we have research nurses we have opthalmologists we have imagers admin staff and of course um you'll see in the right hand corner um our regur genetic co
unselor Claire um he um doesn't she she kind of doesn't work on in the ni serum but she definitely gives a lot of input and helps with many of our studies whether she wants to or not Claire isn't that right um so the areas that we cover um I think at the minute we've got maybe about 12 or 13 different studies currently running where we are either actively recruiting patients or whether we are in um you know the non- recruiting for phase where we're um treating patients um we don't just deal with
macular um eye disease we also would do retinovascular disease so if there's any um V occlusions or anything like that um dry eye glucoma and refractive air um and obviously as CL is going to talk to us about next would be the um our inherited ventanal degeneration so I'm just going to pass over to Claire and Claire just you tell me when you want the next slide thank you sherley um so sherley has I've put a little thing up here on the left hand side of the screen which some of you may be able t
o to see is made up really of scare um squares and circles that's a family tree and that's like my pen and paper of my work um in genetics we we take a family history from patients and we do that for a number of reasons um mainly of course to find out who is affected in the family with the inherited retinal degeneration um are there some family members who've maybe been lost to followup and who we can back in we can get back into the system the health system um we we find out more about how the
gene is inherited through the family tree um and you know it also sets up rapport with I find because you know once we start H chatting about a family history then you know you get to hear the The Human Side of Things the stories um about the previous generations and so on so um it's essential to our work and it's the first uh Port of Call for talking to any patient is to go through their as well as their own clinical history is to talk about the family history uh now Shel has put a a photograph
of an eyeball I believe beside that now that's not my area Shelly but I think it's what you would call a quote unquote a normal eye is it yes that's right that's right normal re y that's a normal retina so um very good so Shelley if you could just get the next slide for me please that would be brilliant so in terms of genetics then um I've I've been doing the Opthalmology work uh for the inherited re retinal conditions for about over four years now um and what has amazed me about Opthalmology i
s actually the number of genes involved so you know for other genes for other genetic conditions like cystic fibrosis or Huntington's disease there's only one gene that's it that's the gene but for the these retinal conditions we know now that there are over 300 genes so some of these genes are actually incredibly rare So when a patient finds out what their family Gene is sometimes they'll say to me well what do you know about it what will I be like in 10 years or in 20 years for a lot of cases
that that is actually almost impossible to tell um there are some conditions where the gene is more common like starart disease so the main Gene there is abca4 and somebody in America has done a lot of work on the natural history of the abca4 Gene and they're actually able to pinpoint progression or let you know how your condition will progress um with certain mutations um so for example for some of the risk factors they know that you won't be affected till middle age and your presentation will
be quite mild so there's so much to learn about the genes but the more rare that the gene is well the more actually important that you are to to us to the community for research and so on and the more you can help us and again that's where the family history comes in because we can look at the presentation of a gene in the family history not just in one individual um Colin mentioned earlier that this uh chat really is for people of he mentioned working age and indeed the inherited retinal condit
ions um are the leading cause of vision loss in people of working age so that's between 16 and 64 so there's not just the personal implications and and the family and career implications but it's a huge loss actually to society as well in some ways um so these conditions are caused by what we call pathogenic or likely pathogenic variance in genes um and they're critical to the function of the retina and as I mentioned earlier there are currently over 300 genes that we know about so Shelly could
you move on please for the next slide so just to give you an idea overall um the inherited retinal conditions are rare this is what we call a rare condition we know that one in 3,200 people will have an inheritage red milk um distri rophy the EU defines a condition as rare if it affects fewer than one in 2,000 people in the general population now don't Despair and think oh you know they're going to forget about this because this is a rare condition but as as people say rare conditions together a
re actually common and this is why we've got the national rare disease office in Dublin there's one in Scotland um we'd love to have one in Belfast and that will happen at some stage um there are are more in England so but with this with inherited retinal conditions we more than we know more than two million people are affected worldwide so H Shelly please so there there may be quite a few of you who have never had genetic testing and um I know quite a few people get lost to followup at the Opth
almology Clinic because for a lot of people uh I suppose when you've been a few times you maybe feel well they don't do very much they take a few measurements and you know they're helpful if I have a sore ey or something you know along with my condition but for a long time I remember Professor svest saying she used to feel quite bad but genetic testing has come along and it's given us it's really really important actually so if you if you if there's been no genetic testing in your family um we w
ould recommend that you get referred for genetic testing um through your opthalmologist now in when we start testing in a family initially we always start with somebody who's affected and that person has what we call a gene Panel test so the laboratory will actually it's like a needle in a hay stack they will look at over 300 genes in your sample and if the familial Gene is identified we can then offer Cascade testing or predictive testing to other family members so if you find out what your Gen
e is we can then offer testing to your siblings your children and so on well why would you do it um it confirms a diagnosis H it gives you a reason why this happened um it also refines the diagnosis because even though we have this very very broad terminology of inherited retinal degenerations they are quite different in their own ways and a gene actually H make it makes it very refined um we can also establish the mode of inheritance and that's important for other family members or for people p
eople who want to have a family and want to know the risk to their children and leading on from that then we can make referrals to the genetic service there is potential there for something called pre-implantation genetic testing so it's a form of IVF and only the unaffected embryos or the embryos that don't have the gene change are implanted in the womb but that's not for everybody um but again it's down to your own uh personal history of your condition or maybe what you've seen in family membe
rs in terms of their condition but as I say it's not for everyone but it is important to know that it's the it's available um but it's also essential to have your genetic report and your Gene prior to joining clinical trials and especially Gene therapies thanks sh thank you so I'm just going to say something very brief about the chromosomes um we have 23 pairs one to 22 of those pairs are called autosomes and they're pretty much the same in men and women chromosomes 1 to 21 um and so when you he
ar a genetic is saying your condition is autosa it means that your Gene is on is on chromosomes one or chromosomes two or three or four it's on a pair of the autosomes then different to that are the exlent conditions um the 23rd set of chromosomes are the X chromosomes for females that's XX for males that's XY and for genes on the X chromosome that condition is X link thanks shy so we've got a we pictorial representation here of autosomal dominant inheritance now um for this condition as as I sa
id our genes come in pairs and our chromosomes come in pairs so the genes are on the chromosomes like a little string like a necklace each is a gene and it's on that necklace which is chromosome so we've got 23 pairs one one comes from dad in the sperm one comes from mum in the egg so for autosomal dominant you just need one of your two chromosomes to have a little alteration or spelling mistake in order to be affected with the condition so on this representation here one of dad's two genes has
an alteration and he is affected with the condition so each pregnancy they have whether it's male or female will inherit a working copy of the gene from Mom and it's 50/50 whether they inherit their dad's working copy or the one with the alteration for an oral dominant condition we're able to tell people that for each pregnancy there's a 50% chance that it will inherit the gene change and will be affected thank you Shelly oh Shelly has put up some photos here so these photographs apparently they
represent uh the rho gene which is dominant causes retinitis Pigmentosa so shell you might be able to say up the one on the left there has has yeah so um these are both um the right eye of two different patients the one on as you look at your screen on your right hand side is a healthy eye so you'll see it's um a nice orangey red color um the the nerve which is a little like yellowy um dot it's A nice bright color on the healthy side if we go over to the left um there are these very um um these
little black Speckles um that are surrounding um the middle part of the eye um these um speckles are called bone sple um bone sple dark deposits and they are very characteristic of patients with um retinite Pigmentosa and particularly this rhu Gene um the the nerve instead of it being this more warm kind of color it's a bit peer um and and I'm sure anybody in this call who has the condition they'll know um that the difficulties they generally you have would be seeing in dimmer light um and at n
ight initially maybe with some blind spots in the peripheral vision um and later on one that with um some issues with their central vision as the central um Vision starts to degenerate a little bit as well um generally the symptoms would begin in ad Ence and young adulthood and then progresses then over time a little bit with that so um so yeah that's that CL pass you back thank you that's really helpful because I've seen bony specul written in clinic letters and things and I've never been quite
sure what that meant so that's very helpful um so we're sticking to autosomal inheritance so the autosomes this time um I want to tell you about autosomal recessive inheritance so if you remember with the dominant type you just need one of your two genes to have a little alteration to be affected with the recessive type both of your genes need to have an alteration we used to use the phrase mutation but it's it's sort of more it's more nuanced now so both copies need to be affected for you to b
e um affected with the condition and I'll go back to uh one of the most common genes abca4 that's how this condition is affected so if you have that condition you can bet that both of your parents were carriers what we call unaffected carriers so with the AOS recessive conditions these um conditions just seem to come out of the blue so people will say but you know when they have an affected child you know we don't have a family history of this this condition we've never heard of it why has it ha
ppened and it's happened just because one unaffected carrier has met another unaffected carrier they didn't know they were carriers but every time they conceived a pregnancy there was a 25% chance that that pregnancy would inherit the altered copy of the gene from Dad and the altered copy of the gene from Mom and that's that's simply it so that little group of children or siblings will be the only section of the family with affected me family members you will have carriers on both sides of the f
amily who won't know their carriers but it's it's when you get one one carrier having children with another you start to see the condition now some of those children um will also just be carriers so they'll be unaffected um and some of them won't even inherit an alter Gene at all um the one thing the assuring thing I suppose with knowing about the inheritance pattern is if I meet somebody who has star arts and and they know it's the ABC of for Jee I can let them know that look your children will
be carriers because they'll have to inherit one of your alter copies but they'll get an all a wild type normal copy from the other parent um abca4 would be the most frequent um Gene in the population out of all these inherited vetal conditions but it's not frequent enough to Warrant um carrier testing in the general population so we don't actually do that we don't offer carrier testing it's really not needed it would just be an issue if you knew that somebody uh you know was going to to marry s
ay a first cousin or something like that and that doesn't H happen a lot but I have come across it in clinic H and when that happens then we do carrier testing for the cousin or or so and so on so it's it's that it's just a bit different from the dominant inheritance um so thank you thanks and again here we've got photographs this this is for the abca4 starart yeah so um in this Slide the both photos are of the CI but um photo B on the right is just a more magnified version of it um so if you ca
n um so there's little um dull yellow deposits just surrounding a pear area just in the middle of the photograph just around the macula um these deposits are called flex and are a Hallmark of um star carts um and you know again anyone um with star Garts will know that typically it's the center of vision loss which tends to worsen over time as larger um parts of the mic becomes becomes damaged however um the severity of the visual loss um and the rate of decline are highly varable um with this co
ndition so thanks Shelly yes that's right shell said the clinical presentation is highly variable and that comes down to the type of Gene change that you carry and the combination of Gene changes in in both of your genes so it is quite FAS learing and there's also um a new science that if you like it's called I to jene so it's quite amazing that's an opthalmologist can look at a photograph of an eye or an image and can actually say well that star so that's going to be such and such a gene you kn
ow so I when I started I find I found that really fascinating that um the clinicians can really make a very good guess um at the gene the person the family might have just from Clinical pictures um so this is the last form of inheritance here so this is I mentioned before about the sex chromosomes the X and the Y and we we talk always about the X chromosome because the Y which the males Carry has actually got very very few genes on it um so it's all about the X chromosome now that's a very busy
um picture there in the left and I don't even I don't like it so I'm just going to say that when a male has an exlink condition is one and only Gene because remember he does to have a pair he only has one gene when that Gene has the alteration and he goes on to have children he cannot pass it on to any sons that he has so that is because he only passes on the white chromosome so again that's the importance of knowing where the gene is and the and how it's inherited we can reassure Male carrier t
hat he won't pass it on to any sons now his on the flip side his daughters will be carriers but with many excellent conditions we find that the women are not as severely affected and they're affected much later in life and we think that's because the second copy of the gene on their second X chromosome compensates for any loss you know through this altered Gene so H the girls will be carriers now in the second part of this uh Wii diagram we can see Mom is actually the carrier here um in this cas
e it's more like a suo dominant inheritance boys and girls will have a 50/50 chance of inheriting um the exlink gene from her um so I suppose the the other thing to say about exlink inheritance the main Gene that we we work with is called rpgr and this is this is sort of flipped it around for us we we're finding the female carers are also quite severely affected and at a young age as well so as I found over the years with genetics there are no hard and fast rules there are you know there are exc
eptions to the rules and so um we know that rpgr doesn't behave in this way um and we think it's just that in the cell the working copy of the X Gene is accidentally switched off so you have expression of the alter or the um the normal copy switched off so you have expression of the altered copy and that's not the way it's supposed to be so we think also there's a lot of background genetics so we we focus mainly on monog gentics or one gene a big Gene in the family but there's something now comi
ng along called personalized medicine where there's also a genetic background there are other genes that we can't disregard we just we don't know enough about them yet and that's why within families you see such a lot of clinical variability uh with some of these conditions the genes in the background are playing as well um and So eventually as well as looking for the main Gene in your family we may get to a situation where we can look at the background genetics as well and see how that plays in
to the environment in the cell and your retina and so on your condition so sorry thank you um Shelly Shell's put up a few more photos now of an excellent a condition on the eye yeah so um these slides are just showing um cor which is um in this case go for the chmg so again on the right hand side we have a healthy retina um and then on the left hand side we have Tina affected by cor so anything that's kind of pale in the retina um joury means that it's not really working anymore that it's waste
away so the only part of this eye which is um healthy or seeing well is right in the middle in the macula so um people this condition will very much have um tunnel vision and um the how this varies um again and the the severity of the symptoms can vary between patients even within the same family um with this particular one so um yeah I'll move on to the next one cl thank you um yes so I well I don't I just put this up it's a bit um geeky I suppose a bit nerdy but um I suppose what I'm trying t
o say with this slide is look the family tree really helps us um to consider a mode of inheritance for the family but you do not really know what's going on until you actually do the genetic test so just looking at that family tree you would say well this is a sporadic H case um what what's the inheritance here well believe it or not it could actually be dominant even though I talked about um how how dominant genes are inherited but what's actually happened in this case is this patient here who'
s who's affected that uh genetic alteration actually occurred spontaneously at conception so there's no family history but it has started for the first time in this person and the importance about knowing about this denovo genetic alteration is that going forward for this person any children they have will be at 50% risk of inheriting that H alteration so there's the importance of doing a gene panel for that person and working out how how this genetic alteration came about so denovo in this pers
on it wasn't inherited it happened at conception but going forward all of that person his children will will have a chance of inheriting 50% chance so the other thing is it could be autosomal recessive both parents are unaffected carriers or it could be EX-L so each of the females his mother his maternal grandmother and so forth where EXL carriers who didn't develop the symptom the condition but have maybe when they are examined have very very subtle signs um so in boys though unfortunately it i
t TS to be quite severe and quite affected at a young age so anyway thanks Shelly um so I don't have too much more to say on this you probably be quite glad but um I just wanted to give you I think it's very important when we counseling people who are having Gene panels it's important to let them know that we may actually we may not find your Gene um and that's down to technology really there are parts of the gene which are not very well characterized and are quite hard to access so you know a l
ot of people will be hoping for a positive result and find out what their Gene is but I just did a we snapshot of our results for 145 patients and it was it was over a year 2019 to 20 and out of the people who had Gene panels 79 of them got a genetic diagnosis so that's 54% 55 of them got a negative report so the causitive gene was not identified but that doesn't mean that your condition is not genetic you know so we're you're at a bit of an impass there until technology improves and we can look
at other parts of of the genes but there's a very small SE percentage 8% of people will have what they call a variant of certain significance and that's a real that's a kick in the teeth for the professionals involved as well because what's happened is the lab has identified a good Gene and there is an alteration in it but there isn't enough scientific evidence to say whether it's caused the condition or it's just one of those benign changes that occur in all of us across the general population
there's just not enough evidence and part of that is because these genes are so rare and they maybe haven't seen that particular alteration before so these variants of Uncertain significance tend to be reviewed every every two or three years so it's it can happen if you do family studies and try to follow this change through the G through the family through affected family members you can sometimes upgrade that classification to to likely pathogenic so it's just to manage people's expectations
there and thanks Shell um and this again it's just you know these patients where we did get a diagnosis in 79 we it was in 19 different genes the most common of which I've mentioned them before abca4 we had 34 patients with a diagnosis the ush2a gene which is also autosa recessive so carriers aren't affected it causes Usher syndrome type two 12 of our patients had that and then as you go down you can see how uh how rare some of these genes are like quite a few of them only happened in one patien
t um so the next one there is rpgr that's the exlink one we have six patients with that um you know so it's it's quite a quite a range um so thank you um J and without um stepping on shelle's toes I I did think think I'd just put this in about gene therapy because um I know these things seem to move very very slowly um but there is actually a genetic a retinal condition where there is gene therapy so um there's a condition called Liber congenital amorosas and it affects really toddlers you know
by the age of 18 months to two years they're they're almost blind but um for that condition that's caused by this one particular Gene rpe65 there is a gene therapy and it's funded by the NHS now we've been trying for years as shell knows to find a patient in Northern Ireland with it and we haven't and we think there's a p there are three patients in Dublin um so it's it's it's quite an amazing thing but it does give us a great deal of Hope for other genes um going forward thanks Shelly and just
finally um there's a very smart uh register in working with us in Belfast he did some work over in murfield in the eye hospital and there's a lovely app he has you can download download it on your phone it's called Gene vision and it goes through all the different genes and Shel had a look at it and when she was preparing her slides and that's where she picked up the photographs you know for the different uh for the eyes with the different genes but um it's a lovely it's a lovely app it's been d
eveloped for patients um it's got thing information about support groups and so on and I just recommend I really recommend that you have a look at it and so that's that's it from me so yeah back to me so yes just as CLA was saying that website it is it's really really good particularly if you've had genetic testing and you know what your condition is even if you don't and you know the name of your condition you can click on the condition on that website and it will have most up toate information
if there are any current clinical trials going on um so you can kind of link with that and see if they're recruiting patients or um if there's any way you can participate so um like I said at the start I'm Claire's done all the heavy work and I'm just going to wrap things up here in the last few slides um and I just really want to talk about um just a briefly a few of the studies that are currently going on in the ncrn at the minute um I just wanted to focus on ones that are more macular based
or inherit rental um degeneration based um and just to show you a sample of the different types so um the G toost um this study um is looking at um people with a more advanced form of Mark de generation so um Geographic atrophy um and atrophy is from a Greek word meaning wasting away so it's where part of the retina kind of starts to um not work at all anymore and that's what gives us that kind of um that BL Vision So currently in the UK there's um no approved therapies um to treat this now ther
e have been some that have been approved from the US but that hasn't reached us here um so this is an example of um what I was talking about earlier where we sometimes we don't enough information about this about disease or why it affects some people more than others so with this um study we what we are doing is just monitoring the disease over a period of time um the patient doesn't even have to come to see us in the research Department we're just viewing we're observing their um their General
care and their General visits and it's just to see um you know why once they get all the information from all the different sites because it's not just us it's many sites across the UK and Europe that are doing the study then they will hopefully try and find out why one grrip is different than the other and hopefully that will lead to further research um this next study um it's called The Tiger study and you will notice that studies all have these very catchy names and that's on purpose because
catchy names that people remember them compared to the fair tal name which I'll not go through but there's about 20 words to it um so the tiger study um I just wanted to give an example of a macular condition that's um more an acute one so it happens more suddenly um in this study um the patients that are affected have um a submacular bleed um from the photos you can see there's a really heavy blood clot just centrally um and the ooc image on the right that's just showing that big kind of Hill w
hich is just where the the clot of blood has kind of um gone underneath the macular it should normally be um a FY as opposed to a hill in that picture um this study is comparing two um types of you know they it's comparing a new treatment versus the standard of care so this is an example of trying to find a more efficient Better Way um to treat a certain condition so in this um case it's um you know it's comparing the standard eye injection to the eye to help um the little blood vels to stop ble
eding versus the injection plus surgery where clock busting um drug is insert at the same time along the gas bubble to take the blood away more quickly um I have a FID on the next slide and if you are Squamish um and don't want to see um horrible things happen happening to I would advise you not to look at this next bit but if you're interested to see what a an eye injection looks like just to be more reassured that it's not as scary as what you think then just for the next minute um um I'll let
you watch so bear with me there is sound in the video but you'll not be able to hear it so I'll just kind of talk a talk a little about it so hopefully you can hear hear me still so basically um this lady um is one of our research patients um and she is getting on the eye injections the surgeon is just marked on the eye where he's going to do the injection and ask the patient to look up and to the left and he has just popped the injection in so that's one two three four five six seconds it took
to get that done all done and he asked the patient how she feels about it and if you can see her hand and she basically just says it's not painful it's just pressure so um I was trying to show my husband this uh image during the week and he almost vomited so and there we go I'm not even joking so um last story I'm going to talk about is obviously the Magi study which we're very thankful that the mag Society has um funded um in this study it's an example of where the KR isn't maybe a treatment f
or um a macular condition so in this study it's not just people with macular degeneration it also includes people with inherited retinal diseases um and the study is aiming to see if I um inocular magnifier can help patients reading ability um so if somebody's already had their cataract removed they'll have an artificial lens in their eye already and the implant just slides almost like a piggyback system on top of that lens the central part of the lens um provides about two times magnification a
nd then the outside of it is clear so the point of that is so that it's still gives patient um distance Vision um while also helping with the reading because as we read our pupils naturally shrink and should be focusing on to the more magnified part of the the um lens um alongside the stud also um testing out a contact lens and the similar principle with the magnifying area in the center and clear bit on the outside and with the contact lens we're comparing we're we're trying to see whether it's
comparable to the lens implant so that if people don't want to have surgery then that's another option for them um now because it's it's obviously if some people might be listening going two times mancation sure that's not very much and you're right it's not load so the patients in this study jally would have a more mild to moderate vigil loss um rather than we wouldn't be recruiting people with more severe types of vision loss for this study so um last uh slide really um so how can you get inv
olved in research so the mular society um I've been looking at the website are very good and updating you of what's currently available what's going about and obviously our funding research um all you know all over the UK which is absolutely fantastic you know without the funding research can't happen and we can't move forward um but if you are um obviously everyone in this call isn't from Northern Ireland so um if you're living in the UK um the people that do the research or clinical research n
etworks like um what we do in Belfast they're all across um Scotland England and Wales you can contact your local research Network your research facility your clinical trial unit um any of your universities and just ask if they have any um studies running with regards to your condition right um just an important point the the thing with clinical trials or with any study they do generally have um quite a strict um what's called eligibility criteria um so even though you may have the condition you
may not fall in line with what they want it may be you have to have a certain amount of vision loss or impairment like I mentioned the mag view study you may um have to only have an eye condition that's stable that you can't be receiving injections for or or you may not be able to participate in the study if you have other conditions like diabetes or hypertension Etc but don't let that dishearten you um there's always something coming up and even just letting the people the researchers know tha
t you're interested means that if anything does come up they will be the first to contact you and just following on from that if you are Northern orand and you are not known to us and you are interested in taking part any research please please please um give us drop us an email at the vision research team at Belfast trust. hscn . net or give us a call on um the number below but thank you for your time tonight I know we maybe went on a little bit longer than what we expected so apologies for tha
t um thank you for listening no it's been very interesting we've uh I've really enjoyed it thank you ever so much it's yeah it's brilliant um I think um understanding genetics and um and sort of what you guys are doing over there as well in Northern Ireland is brilliant so thank you for your time uh I think we had one question or two I don't I heard a couple of mumblings come through on my screen reader so Jerry did we get any questions yes we've got um a couple both from the same person um but
they're not particularly related so the first per first question is um it's to CLA um when you talk about needing people needing to know their genetic mutation alteration um in order to take part in gene therapy or go on a clinical trial can you explain why um it's a bit like uh matching pieces of a jigsaw puzzle um the gene therapies are targeted very very much towards that specific alteration or spelling mistake in your Gene um or specifically towards that Gene um so it's like a lock and key i
f you imagine it's like a lock and key so the idea is either to remove the genetic alteration or to flood the retina with working copies of the gene you know so if you don't know what that Gene is then you can't match the jigsaw puzzle you can't you can't put the lock and the key and match the things together I don't know if I've made that um the genan therapy is specific for that Gene no so it's it's so I I think probably it doesn't stop anybody taking part in any um in any studies it's just if
it's particularly gene therapy where targeting the actual Gene but they could still take part in the study where they're they're looking for people with abc4 Gene it's just the actual therapy where they need to Target the gene then that's where you need to know what Gene is you have and um order I've seen the eligibility criteria for clinical trials and um there was the starart one not very long ago where you you couldn't find out your what Your alteration was through the trial you had to know
it already for them to consider you for the trial so that's you have to had that genetic diagnosis before you would even be could just say I've got star Garts and they would look at you yeah yeah and one of the reasons is um I've mentioned ABCA for quite a lot but there is another Gene which causes starart disease um prph2 it's uh inherited in an autosomal dominant fashion so if if a clinical trial or particularly a gene therapy but if it is targeted towards a particular Gene it wouldn't be help
ful for somebody with star Garts which was caused by the other Gene is that you know um I don't know Shelley if you want to comment um on that no I think like that's a big reason why there's a lot more um funding stuff going into um people who haven't got a genetic testing to um you know to to find out um genetic testing it it does take a long time to find that Gene and if a study has already been given the go ahead they might have a limited time frame in which to see see the patients so if it's
going to take maybe I don't know Claire can't be up to six months four month I don't know it can be quite a long time for um you know basically if you've got your genetic report and you know your genetic alterations you're good to go you don't have to go through that genetic protest or the genetic testing initially um there we we've been very fortunate in Northern Ireland we have had funding for Gene panels and we've been able to get it done through a commercial company now that's fun funding i
s finishing in six weeks but I mean their turnaround time was just phenomenal it was between six weeks and eight weeks but if you're having a gene panel through the NHS it's a minimum of nine months but generally it's a better year to get a result so this is why it's really important I think to have all that background work done and then if something does come up like uh something that targets abca4 as I say you're good to go if as shelle said you you'll fulfill all the other eligibility criteri
a maybe your vision has to be at a certain level and so on but yeah that's the importance of having your genetic report lovely thank you um so another one's coming um I think this one probably for Shelly um somebody's been diagnosed with bilateral macular drusen and some drusen nasal to the optic dis now drusen something I know of in relation to age related macular degeneration um so can you recognize that as a diagn related to an inherited disorder um so what what is it they're asking is is it
what is it I would like to know more about this bilateral ma macular drusen and the it's it's at so it's bilateral macular drusen but it's also at the dis as well a few dren to the optic disc and they they've just popped in the chat that they're 30 years old oh okay that's very young to have dreon yeah it's quite young to have drezen but it's not um it's not completely um unheard of um we would have um we have seen people in the past I were also work in Community Practice as well and there would
be maybe the odd person you would see um who would have more like a juvenile kind of dreason but their vision isn't necessarily you know severely affected it's just that's just the way they're made up so um it wouldn't necessarily maybe come under the inherited retinal distopy kind of umbrella uh like I don't know because I don't know the person I don't haven't seen their images I can't really say lots about it um it wouldn't be as common it depends if it if the dren is near the dis then again
um that would be um you know that kind of would fall in line with any um dreon that's more associated with you know when you're younger because it wouldn't necessarily just be at the maget it could be a bit more scattered if it's optic distrus as well as that that would be I don't know if I've come across that it would be maybe a bit more so again I can't really comment on on without seeing the images or saying exactly but um yeah it's all kind of fair dependent on the The Vision if the person u
m is unsure and wants to know more about it going to you know don't be afraid to ask for more information you know um I think sometimes we get into a clinic room and we're told something and they go is that okay here's a leaf and you're like okay and then you walk out and you go why I don't know anything about this I don't know you know um Whoever has giv you that diagnosis don't hesitate to go back and just be like could you please give me a little bit more information about this or direct me t
o some support where I can find some more information about that absolutely one of one of the things that we we talk about all the time is if you've got those questions write them down and the next time you go to the eye clinic or who whomever just take those questions with you um so you have you you don't forget to ask the relevant questions that you think of over dinner three weeks later it yeah because it's the worst thing I like us as um professionals you know we're that's what we're there f
or we're not we're not there to yes there's busy clinics whatever but you're you are still worth the time and never feel like never feel like you can't ask the question because you you always can and you deserve to know an answer and if they don't know an answer they'll know somebody who can so yeah just I would definitely say ask the question and even if it's after you know don't wait till the next appointment ring up ask be that person be that person it's your condition you need to know all ab
out it yeah yeah understanding is really important that's why in diagnosis is so important to people um yeah um okay next one is is for CLA so this person has had genetic testing and their Gene where the fault has been identified is gucy2d and it's autosomal dominant do you know anything about this Gene and is is there any research being done well the first thing I can tell you is that it is rare um and we do have a family but in Northern Ireland but unfortunately um when we did genetic testing
the result came back as a variant of Uncertain significance um and in that situation we Tred to contact other um Labs research groups um to try and find out if they know anything else about the variant we've not been able to find anybody else with that exact variant um there was one patient I think with a slightly different variant who had a a slightly different clinical presentation as well um so I'm so sorry in terms of um how it might affect you or other affected family members um I wouldn't
be too sure I know with our family it's it's um it is autosomal dominant in the family quite clearly um and everybody who Carri it is affected but uh I can try and find out a bit more for you if that helps um I had I just had a quick look up on the Gan um Vision website there um just for a quick scan um and it just says so it has be topic of therapies under research um and I think there's some phase one and two trials maybe going on with that at the minute but um if they have we look at that web
site and there's a link for the studies and then that would maybe give a little bit more information about the current current um current therapies currently trials that are under research at the minute if that's helpful thanks thank you I'm no expert in this area but I I can see that the research is going away from specific Gene treatments Gene related treatments or mutation related treatments to a more um a broader form of of gene therapy or broader form of treatment that will um be able to be
used for a range of of mutations um so because if we were able we were trying to develop a a therapy for each specific mutation yeah so many of them that that would take thinking more broadly to try and find a treatment that would impact a wider range conditions now yeah that would be ideal yeah well I'm very aware of time we have we have managed to get through our hour quite rapidly which is which is always good um um just e a chance to say um thank you for Jerry for coming along as always and
doing the uh the questioning answering the questions it's brilliant so thank you very much uh but a special thanks to uh Claire and Shel for taking time out of their evening to come and chat with us this evening um so thanks guys it's been it's been really great really informative really interesting so thank you thank you thanks no no absolutely no problem um so um I just want to say a link I've just popped a link into the chat for be part of research which is an NHS website which lists all the
clinical trials underwear in the UK oh brilliant so that's updated on a regular basis so so where have you put that Geraldine where is it in in the chat okay I think there's another question in in the chat there might be another question oh I've gone and put it in the owned hosts and panelists I apologize I will redo that to everyone everyone be part of research yeah there you go brilliant brilliant everyone you can see it sorry about that excellent all right well in that case uh we we have dra
wn to a close uh only to say that the the next session um is um on areas of starart disease so back to the ABC a4g again um and we're be going to looking at uh light sensitivity so photophobia and on all those lovely swirly things that people get in their eyes if they've got star disease photoa or I think hope I pronounced that correctly um so that's on uh November the 30th and that's the last one of the year so you have no excuses but to come along uh and uh and learn some stuff so it' be reall
y great so again thanks CLA thanks Shell thanks uh Jerry and thank you to patience for keeping an eye on everything in the background uh so thanks very much and good evening
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