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Gene therapy on the NHS, The RNIB Reading Service, Blind architecture

A new gene therapy becomes available on the NHS - we speak to Professor James Bainbridge fresh from performing the operation.

Voretigene Neparvovec – is the first in a new generation of gene therapies which can be injected into the eyes of patients - and it's available on the NHS.
It's a major development for people with the inherited retinal disorder Leber’s Congenital Amaurosis (LCA), but as ever, we want to get to the real implications for blind people. Fresh from performing one of the newly-available procedures, Professor James Bainbridge tells us exactly who it can help.

And there are changes ahead for the RNIB Reading Service, as it shifts from the old Overdrive system. We talk to Jackie Brown who has been testing the new system, and the RNIB's Alison Long who assures us the changes won't affect those who rely on postal delivery rather than technology.

And we catch up on the course Architecture Beyond Sight for blind and visually impaired people. Zoe Partington of Disordinary Architecture tells us more, and artist Fae Kilburn tells us about her experience of studying the built environment and why it can be a difficult place for the partially sighted.

The course has inspired us to ask for your suggestions of developments or buildings which are rotten to navigate if you're blind or VI. Send your suggestions to intcouch@bbc.co.uk

Presented by Peter White
Produced by Kevin Core

Available now

19 minutes

Transcript: Gene Therapy on the NHS/The RNIB Reading Service/Blind Architecture

Downloaded from www.bbc.co.uk/radio4

 

THE ATTACHED TRANSCRIPT WAS TYPED FROM A RECORDING AND NOT COPIED FROM AN ORIGINAL SCRIPT.  BECAUSE OF THE RISK OF MISHEARING AND THE DIFFICULTY IN SOME CASES OF IDENTIFYING INDIVIDUAL SPEAKERS, THE BBC CANNOT VOUCH FOR ITS COMPLETE ACCURACY.

 


 

TX:  18.02.2020  2040 -2100

 

PRESENTER:          PETER WHITE

 

PRODUCER:            KEVIN CORE

 

 

Peter White

Good Evening.  Tonight, a shake-up in library services at the RNIB. We examine their offer of new ways to access brail and audio books.  And the change to make our buildings and their surroundings more blind friendly!

 

Zoe Partington

New Street Station in Birmingham, a perfect example.  I can see how the architects decided to design it.  I can see what's happening but trying to way find from one part to another is virtually impossible as a blind or partially-sighted person.

 

Peter White

But first, we've been following regularly trials to discover the role Gene Therapy can play in halting some forms of sight-loss and even of restoring some sight.  A number of cases have already shown optimistic results,

 

But yesterday, the BBCs Health Correspondence Fergus Walsh, reported on the first example of such a procedure taking place on the NHS.

 

Professor James Bainbridge

Obstruction here! Look straight ahead and look up, left!

 


 

Fergus Walsh

Jake Turnant whose 23 has been slowing losing his sight since childhood, but he's just received a pioneering gene therapy at Moorfields Eye Hospital in London.  The injection made into the back of the eye, contains working copies of the gene RPE65.  This provides instructions to make a protein that is important for vision and for keeping retinol cells healthy. 

 

Trials showed the gene therapy improves sight and prevents the condition getting worse.  Jake is keen to retain what limited site he has!

 

Jake Turnant

I hope you know it can improve my night vision, which will be a major improvement for me in daily life and maybe possibly day vision as well, which is I mean incredible.

 

Peter White

Jake Turnant.  Well we've always been at pains on this programme to keep a sense of proportion knowing how much is at stake for people hoping against hope for a successful treatment, so what does this latest development mean and who can benefit from it?

 

Professor James Bainbridge was the Ophtalmologist carrying out that operation.  And I caught up with him this afternoon, when he just assisted in the gene therapy procedure at Great Ormond Street Hospital for Children and I asked him, if the age of that patient was significant?

 

Professor James Bainbridge

Yes absolutely!  So there's every expectation that intervening earlier will provide the greater benefit in particular in terms of protecting the sight that children have. It's a remarkable moment I think when we are able to provide on the NHS, this kind of treatment gene therapy, which I think is the first of a of a new generation of treatments for people with sight impairment. 

 

Peter White

Just explain what the process is that you've been doing in Jake's case?

 

Professor James Bainbridge

So the procedure is essentially to provide his eye with healthy copies of a gene that is otherwise lacking.  This is done an operation using keyhole surgery to inject the gene into the retina.  And the the gene has been packaged using modified viruses in order to deliver the gene effectively and efficiently into the cells that need it. 

 

Peter White

What exactly is Jack's eye condition?

 

Professor James Bainbridge

So he has a very rare condition in which he has failed to inherit a working copy of a gene that is critical for a protein in the eye that's responsible for regeneration of a visual pigment.  So the aim of the treatment is to provide them with that gene that's lacking in order to provide the the protein that's required to make his photos central cells light sensitive again.  The excitement is that this is the first approved therapy using gene therapy for a condition that was previously untreatable and the expectations that this will be the first of a whole new generation of new treatments that might be applied in the future, to be people with similar inherited diseases.

 

Paul White

And of course the the problem always is with this, that people hear a word like 'retina' and they immediately wonder how much it relates to their condition, so I mean would this work for other forms of retinal disease?  I mean you know the one that perhaps people would recognise is retinitis pigmentosa.

 

Professor James Bainbridge

So it's very important to be clear that this particular treatment is is designed specifically for people with a specific condition called 'RP65' related disease.  And that is a form of 'Leber Congenital Amaurosis' which is a particular form of severe if you like of of inherited retinal disease.  There are many other conditions affecting other genes that cause problem for the retina including degenerations of one sort of another.  And the the hope is that in the future, a similar kind of approach made by held for for people affected by those conditions.

 

Peter White

Now other ophthalmologists are working on this, people like Professor Robert McLaren for example.  Can we...Can we put a timescale on when gene therapy will be a kind of 'go to' treatment for some conditions?

 

Professor James Bainbridge

Well I think that the excitement is that today, gene therapy is the 'go to' treatment for this specific condition.  And really the question I think your asking is is how soon it can be extended to other conditions!  So there, there are many research groups working in this country and around the world.  It's very likely that we'll see more approved treatments coming within the next few years.

 

Peter White

Professor James Bainbridge of Moorfields Eye Hospital. 

 

Now the RNIB is giving its online library a makeover, but will it put a stop to the steady flow of complaints from readers that it made managing your borrowing and downloading of books a tricky business.

 

Jackie Brown is an avid reader of audio and brail with good computer skills!  But she found the RNIBs overdrive platform a struggle.

 

Jackie Brown

For me personally, it was quite fiddly!  There was a lot of clutter on the website and everything wasn't in proper headings or in proper tables, it was just a lot of links close together and I just found it really quite awkward at times to navigate. I could certainly do it, but it wouldn't be for the feint hearted and I did report this at the time as did other testers to RNIB.

 

Peter White

And you say you've done some testing, so are you in a position to say and to what extent they've solved these problems?

 

Jackie Brown

I think the website is is not bad.  I, I still think there is a little bit to do with the search facility.  There are two search boxes on there.  There is an ordinary simple search and there is a more in-depth search, but it it's just a bit more time consuming.  And I still think that there are one or two things they can improve on in terms of the the navigation for searching for for books, but it's a huge improvement on overdrive.  And I think things will get better once people have had a chance to use it and then feedback to the reader services team. 

 

Peter White

Well we invited the RNIBs Head of Consumer Services Alison Long to listen to Jackie's comments. And then explain what the new website is designed to do.

 

Alison Long

I mean it's great that she said a huge improvement because that's what we were aiming for, a very you know easy to use website that going forward will integrate with lots of different apps and and devices and also, to be able to offer the formats like e-brail and e-pub.  It's really about you know more choice and more books

 

Peter White

But would you accept that it's not the finished article you know yeah and she said, it's still a bit clunky!

 

Alison Long

Absolutely!  I mean I think you know you have to start somewhere.  If you wait for perfection you, you never launch anything, so you know we've been working with a large pool of testers and you know we have a list of things that that we will address going forwards, but you know it is a massive step forward compared to overdrive.

 

Peter White

Now the two major things that that that this is designed to do! One is to help people actually choose the books themselves independently and another option is to be actually to be able to download books and play them on the system.  Jackie did say that with overdrive the sound quality on audio books wasn't always that good, so will that be better under the new system?

 

Alison Long

Yes definitely!  And that is a resounding success for with our testers.  We are delivering Daisy Audio.

 

Peter White

And we should explain that 'Daisy' allows you to navigate your books and so that was something, which you you couldn't do on the old system?

 

Alison Long

That's right!  We had to convert the 'Daisy' file to MP3, so it was a lower quality.

 

Peter White

Is there a sense here that maybe you want to move away from sending books back and forth by post you know and for example:- We've had some complaints in the past about delivery times.  Is, is there a sense here that you'd really like to automate the whole process?

 

Alison Long

No, no that's not our intention.  I mean actually 90% of our customers have their books by post on CD and USB.  We're not asking them to change.  If they want too that's great, but we will continue to offer both an online and a postal service we're not, we're not stopping anything. 

 

Peter White

So for example, if people do find it difficult and some people do, people would still be able to choose their books and and select them just by ringing up for instance?

 

Alison Long

Absolutely yes! One of the advantages of the new platform is that we will be able to offer smart speaker support in the future and you know, we've started you know looking at that and we do expect that to to grow.

 

Peter White

We've been concentrating on audio books so far, but there is news for braillists on the new site.  What are you doing there?

 

Alison Long

We're putting our brail collection online and we're, we're stripping out some of the formatting so that their designed to be read more easily with a refreshable brail display.

 

Peter White

I mean you've got a fairly huge number of brail books including a lot of you know quite old ones.  Are you really saying you're going to make them all accessible by e methods?

 

Alison Long

Pretty much all of them yes, yes!  Everything that's in the archive will arrive!  We're starting with the literary brail and then we will move onto the brail music.

 

Peter White

Alison Long.  And if you've had the chance to use the new website already, do tell us what you think! 

 

Now architect, it doesn't quite come into the category of airline pilot as an unlikely job for a blind person, but it's not difficult to come up with a few potential limitations! 

 

But when last year University College London's Bartlett School offered a short course in Architecture for visually impaired students, there was no shortage of takers so much so, that their doing it again this year, so what was the appeal?

 

I've been talking to one of the organisers of the course, but first Artist Fae Killburn told me about her frustrations with the design of buildings and their surroundings.

 

Fae Killburn

I have difficulties navigating around glass and Perspex.  There's an awful lot of that within architecture at the moment and I can't tell whether there doors or windows and I just feel like I'm in a maze a lot of the time.  And I also can't tell when you have these gradual steps your walking on a flat surface, the next minute it goes into a slope and then into a step.

Peter White

So you've had a few accidents in your time because of that have you?

 

Fae Killburn

Yes I have yes.

 

Peter White

Was it the feeling that if only they talked to you, you could probably do a better job?

 

Fae Killburn

Well I think if people with disabilities were included designing architecture, it it would be a much more inclusive environment.

 

Peter White

So what specifically, what did you learn on last year's course?

 

Fae Killburn

I learnt about materials.  I learnt about the actual physical space how their designed.  What parts of buildings best suited me as a person with multiple disabilities as far as sound is concerned and light.  I learnt how to make 3D objects myself, which I've never been able to do before.

 

Peter White

And what did that involve?  Just explain a little bit what that, what that meant?

 

Fae Killburn

Duncan Merding is a visual impaired craftsman and helped us use the workshops, taught us how to use pella drills, van saws and enabled us to have the confidence to use the workshop independently.

 

Peter White

So this was really very practical.  This wasn't just theoretical?

 

Fae Killburn

No this was a hands-on course.

 

Peter White

Let me bring in Zoe Partington, whose one of the founders of Disordinary Architecture.  Just, just explain how the course came about.

 

Zoe Partington

It started really because I'm I'm visually impaired/partially sighted and I work a lot in art and architecture and design.  And I worked with Dr. Joss Boyce, who works at the Bartlett School of Architecture.  And the Dean Alan Penn had a trip to Portugal for one of the, one of his meetings.  And he met a blind architect called 'Carlos' in Portugal, which made him begin to question why there was no blind architects students at the Bartlett and what he could do to try and to change that and what the value of that would be to have those people you know embedded in the school.

 


 

Peter White

A sceptic might say, well the reason that there aren't any blind architects is because it is a very visual concept, you know buildings are things that people look at that are supposed to grab their intention and inspire them that that is a visual thing isn't it?

 

Zoe Partington

It is!  But I think architecture is it's a whole combination of things, so it's about the emotional feeling that you have as you move through a space.  It's about way your finding, it's about the clever way that you map a building, so it makes sense to everybody including blind and partially sighted people.  And I think sometimes visual takes over common sense so without putting other elements into a building that would help everybody.  Oh I'm probably bias cos I'm partially sighted cos I observe these things quite regularly.

 

Peter White

Well give me an example then!  I, I mean I know what you mean but is it...well look this idea of something because its visual, what makes it something practical to someone like you?

 

Zoe Partington
Well New Street Station in Birmingham a perfect example!  I can see how the architects decided to design it, I can see what's happening but trying to way find from one part to another is virtually impossible as a blind or partially sighted person.

 

Peter White

Because!

 

Zoe Partington

Because there's no...There's nothing that gives you a clue about how to guide to the platforms, to the cafes, to the restaurants, to the toilets, so they've used a colour coding system, which again it's just lost on me colour-coding.  I need you know tactile things that would make sense; you know maybe acoustics used in a much more interesting way, you know there's all sorts of things that they could be developing.  And when you actually start talking to architecture students and architects, I mean they get it straightaway, but I think that their just so used to putting functional access in or just meetings some...meeting legislation without thinking creatively about what would actually work for everyone. 

 

Peter White

And Fae, I mean your experience on the course as you explained has has sort of started to influence the work that you're doing.  How has it changed you?

 

Fae Killburn

My work originally was very 2D.  I'm a printmaker and now I'm combining printmaking with the materials with an architecture that I find particularly difficult and that cause me barriers like concrete Perspex glass.  And I'm printing on these and making 3D sculptures and taking ownership of those materials and making inclusive art for people.

 

Peter White

So with a course like this, was the idea perhaps to produce and people who could advice, consult on architecture or are you expecting to produce fully working visually impaired architects?

 

Zoe Partington

I would want fully, you know fully visually impaired architects because I think it was the value of a blind or partially sighted person working in that sector is is just phenomenal, because you wouldn't have to pay for consultants to specially come in and advise who were sighted. You could start to really think about things intrinsically and embed it in everybody's DNA within that building within that space.  This is about making sure that the unique skills that a person with sight loss may have can be shared with everybody in a...as as experts and in a unique way really. 

 

Peter White

Zoe Partington and you also heard Fae Killburn.  You can find out more about the course if you're interested with an email to 'disordinaryarchitecture@gmail.com'.  And we'd also like to hear from you with your impressions of New Street Station or indeed any location, which ruins your day.

 

As for me, the site I'm on at the moment, Media City is right up there in my top five. 

 

You can leave us voice messages on 161 836 1338 Email intouch@bbc.co.uk or go to our website bbc.co.uk/intouch where you can download tonight's and previous additions of In Touch. 

 

From me, Peter White, Producer Kevin Core and the Team, goodbye!

 

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