This is the full transcript for the YouTube video https://www.youtube.com/watch?v=rRXw624v4dw
[Geri speaking] All right. So we can start. My name is Geri Rosario. I am one of three ambassadors for India of the
Usher Syndrome Coalition. So Usher Syndrome Coalition is an international organization
and there are more than 2,000 members
worldwide, families with Usher individuals with Usher children, adults who are members of the Usher syndrome Coalition. And the goal of the
Coalition is to connect those families with Usher syndrome with information, with researchers such
as Dr Kumar, and with each other and with the rest of the community. So we are very lucky to
have Dr Kumar here. He is from the Narayan [Narayana Nethralaya]. I'm sorry I am not, I cannot pronounce
things properly. So I will let Dr Kumar introduce the names himself. But he is in one of the top three
hospitals here in India, top three eye hospitals here in India. So without further ado, I'm going
to give it over to Dr Kumar. Oh by the way, I'm sorry, can I request everybody to mute
yourself. Okay if you have any questions okay maybe we can have a break for questions. It's
up to Dr Kumar when he wants to give a break for questions. okay clarifying questions and then the
rest of the questions towards the end. We have about almost a little over an hour for this
talk but we'll definitely have question question and answer portion. And when you do have a question,
first please identify yourself, say your name so that the interpreters can also identify you to
the rest of the attendees. All right. Thank you so much. Dr Kumar.
[Dr Kumar speaking] Okay so thank you Geri for asking me to start with the talk and Nancy from the Usher Coalition group
for giving me this opportunity on this evening Indian time. I will start with my
talk. And I will introduce myself once I start. Let me share my screen.
I have shared my screen and also I took a point to check if everything is okay
there. I hope my screen is visible. Everything okay Geri?
[Geri speaking] it seems to be okay. All right. [The shared screen will not appear in this video. Only interpreters will appear.]
[Dr Kumar speaking] okay so the talk that I'm going to give is on Usher syndrome. It will be an update on the genetics, genetic counseling and therapies. And also very
briefly touch upon on the clinical aspect so that everybody is on the same page.
To introduce myself, I'm Kumaramanickavel. That's a long name so the easy way to address me is by calling
Kumar. And I worked and studied in India. Did my MBBS. And after which I did my MD.
Having finished my MD, I went to New Zealand and worked with Dr Michael John Danton
who was the leader of the Ocular Genome Group in the University of Otago, New Zealand .
[Geri speaking] Excuse me. I'm sorry to interrupt. Somebody said that the audio is low. If you can please
speak a little louder. Thank you.
[Dr Kumar speaking] So I went to New Zealand and I worked with Michael John Denton and his team. And over a period of five years, we met almost about more than a
half a dozen genes that cause various types of vision related diseases particularly affecting
retina. And one of them is RP 65 Gene that has come into therapy today.
So that was identified in 1996 and published in 1997 in Nature Genetics. And then I
was at the National Institute National Institute of Health Institutes of Health
in Bethesda in the US. And I work with Fielding Hejtmancik there, the ocular genome group. And I came back to India
worked in Shankara Nethralaya Premier Eye Hospital in Chennai Southern India which was headed by Dr SS
Padanath. And I set up a Genome Department there and also a Genetic Clinic in the same hospital.
I left that hospital 2009 to start more such genetic clinics and genetics departments and ocular research in
India. And then move to Naranaya Nethralaya in Bangalore where I still work. And I also help institutions
in Asia and collaborate with groups in in Hong Kong , China and few other places.
So with that introduction, let me get back to my talk. And today I'll talk about Usher syndrome. And
we do see many of our patients and I will use only the term subject and not patients
hereafter. And these subjects come to us with various ocular related diseases and have their
own issues for which there isn't any kind of a medical help. So there isn't a medical help, that
doesn't mean that they don't have any solution. When it come to these problems that they face in
life where we try to give solutions in genetic counseling. So before I get to that let me move
on with my slide and I sort of divided my talk and structured it in such a way that I talk about
Usher syndrome first, then genetic counseling, and how we help people not only in Usher syndrome in
other conditions too. And then finally I'll come to therapies and therapies is of a very high
importance. And therefore I have made it as a very brief talk because it's very technical to
be given to a very lay audience and therefore we'll discuss a lot about therapies in the question
session. We have many sense organs which is a very you know lay term right from our eyes,
skin, tongue, nose, ears, and so on and each of these areas of sensation we have nerve endings which
we call as receptors. And these receptors help us to you know have the taste of hearing or vision
touch and so on. Now these receptors are very important and the receptors
that we have for the eye, particularly in the retina, is the RODS and CONES. We'll come to that
subsequently. Now eye is a very dominant source of source of sensory perception of the external
environment. And we can appreciate various kinds of colors as listed in the slide over here .
And we have very high resolution using our eyes, 576 megapixels. And our eye muscles are very active
muscles, are very you know dynamic in nature of all the muscles that we have in a body and we use
this the most. Okay now if you look at the cross-section of the eye you take an eye as a
ball and then you try to cut it across, this is how your eye will look like. Starts with the cornea,
and then you have the pupilary opening and then you have the lens. Lens and cnea are transparent.
So the light moves from the cornea to the lens and through the eye and hits the the most
posterior or back end of the eyeball, and reaches the retina. And then the retina is stimulated and
that information goes to the brain. I'll come to that in detail in the subsequent slides. So when
an opthalmologist looks into your eye, I'm not an opthalmologist, I'm a geneticist. And therefore
when an opthalmologist looks into your eye, this is how your retina will look like. So when you look at
look at the retina headon, then this is how it looks like and you can see this structure, which is
yolk-like in appearance. And that's where the arteries and the veins get in and get out of the eye and
supply the nutrition and remove the toxic products and so on, depending on whether it's the artery or
the vein. And to the left or to your right, you can see that you have the slightly dark red
portion which is called as the macula and this macula contains most of the cones and these cones
help us to read and look at in bright light, say for example, sunlight, daylight and also appreciate
colors. And this these cones are present in the center part of the retina and the remaining
part is fully filled up with rods. Okay rods help us to see when the light is very less
so it is it helps us to see the contours and the shades that are there. But they can't appreciate
color. Now if you look at cut that retina okay and then look at the
rods and cones, right, they will appear like this, If you magnify that. Okay. Now if you look at the
retina per se, it has about 10 layers and each of them are very critical in the visual function.
And the most important part of the retinal layers is the sensory perception layer of rods
and cones. So rod looks like the way as you can see here and the the cones look like this. So because
of the shape, they have got the names and they have two distinctive functions as I said. Dark vision
or less light perception is by the rods and daylight or color vision is by the cones. And they
are in the center part of the eye. So therefore when you have conditions like retinitis Pigmentosa,
the rods are the first affected and therefore since they are present in the periphery or in
the sides of the retina, you will start to lose the said the peripheral vision. Whereas when the cones are
affected, for example, in Stargardt disease, when you have reading disabilities and you know you
can't see images very clearly, and the central vision is lost. And that's the distinction between
Rod degeneration and Co degeneration. So as I mentioned, rods help you to have this black and
white vision, and dim light. And cons help you with color vision or bright light. And we have about 120
million rods and 6 to7 million cones in each eye. So that's the accountability of these rods and
cones. Somebody has to go on mute please. Okay. Now when the light strikes the the retina,
particularly the rods and the cones then there is a chemical reaction that is
immediately triggered. And it's called as a phototransduction pathway. And that
happens in the neuro retina. And there are a lot of end products out of this reaction. And
that is completely cleared by the retinal pigment epithelium where there's another reaction
that takes place which is called as the visual cycle. Okay phototransduction and visual cycle.
So therefore when photo transduction happens, we lose lot of these chemicals and these
chemicals are recycled in the visual cycle by the retinal pigment epithelium and they are again
thrown back into the retina for recycling and reuse. Okay why am I bringing this point is
that there are more than about 300 to 350 proteins and structural and biochemical
proteins and each of them is represented by a gene. Okay so Rhodopsin is one gene that is present
in the rods which is triggered by the photon. And similarly there are another you know 349
genes and proteins responsible proteins which are involved in the photo transduction and visual
cycle pathway. So therefore the conditions that affect the retina or the retinal pigment epithelium in
either the photo transction pathway or the visual cycle are not easy to be solved. And therefore the
therapies have become a very big challenge in the field of medicine and particularly in
opthalmology. Now the second component of usher syndrome, the first component is the visual component of
the condition and the second component is the hearing. So in the hearing, in the ear we have
three parts. One is the external ear which you can see here as the Ear Pinna and the Ear
Canal and then you have the Ear Drum or the Tympanic Membrane and the Tympanic Membrane vibrates as
I'm talking to you and you're hearing my voice as sound. And when the Tympanic Membrane is shaking there
are three different very small bones attached to it and that is present in the middle ear.
and these bone, the last bone, the third bone of that system is again connected to the inner
inner ear. And in the inner ear, it is connected to a a part called as cochlea. So it starts one bone
starts at the as I can show you in the cursor here starts at the Tympanic Membrane or the eardrum and
then it goes and connects to the cochlea and this is called as the Stapes which connects to the Cochlea.
So Cochlea is something looks the shape is almost like a snail and it has labyrinths and it has
a fluid and that fluid is the cochlea fluid. And when this Stapes is moving it starts to create a
vibration and you have sensory nerves in the cochlea. And these nerves start to move. The receptors
start to move when the Staples starts to shake. Okay now as far as the retina photo receptor and
the hearing receptor, they have certain structures which are hairlike structures, or ciliary structures
which they are called. And the proteins that are there in the eye ciliary structure and the hearing
ciliary structure are similar in nature and that is why when you have Usher syndrome, it has about
nearly 14 to 16 genes that are positive of Usher syndrome. Then if one mutation happens then it
affects the ciliary part of the photo receptor as well as the cochlea receptor. And therefore when you have
one gene affected it it affects two parts of the body and therefore people with Usher Syndrome have
both visual as well as hearing conditions. Okay right so if you ask a common man how do we see and
how do we hear in sense in in in terms of a sense of perception then always everybody says that I
see with my eye and hear with my ear. Okay in medical terms that is not right. Okay
in in physiological terms, the eye and the ear are tools and so is the tongue okay and every other
sensory organ they are all tools that we use and that tool helps us to perceive the information and
once the information is perceived it's sent to our brain. and the brain tries to get that information
and try and analyzes it and then gives it as vision, hearing, taste, smell and so on. okay so
the region that helps us to see is actually the back part of the brain which is called as
the Occipital Lobe. So that's the region which helps us to process the information that is provided by
the eye. And the temporal lobe which is over here is the region that perceives information or receives
information from the ear cochlea and then interprets that as sound. Okay. And the whole brain there is
an region called as general interpretation area that connects both the vision and the hearing
and makes us to understand things. okay for example we see the train for the first time in life and
our mom or dad tells us that that's the train. and when the train makes a sound then we connect
that sound with the train. okay the sound with the visual perception of train and anytime we hear
the sound alone we know that it's a train. okay so that kind of interpretation is done by the general
interpretation area. and so it goes with taste. any food a smell of the food you don't need to see it
to tell what what food it is. so therefore the brain is the chief organ of our all perceptions.
okay sometimes when people get injured in the Occipital Lobe they can become blind even if the
even if the eye is perfectly normal. okay so we now know that why people with Usher Syndrome have both
hearing as well as vission related problems. okay now since I told you about 350 different
genes are involved in photo transduction as well as visual pathway, you can compare it with
a car. okay so when you put your key into the car and then you try to start the car the ignition
starts and then you have fire that comes out of spark plug. and then you have the gas that gets
into the engine. and then you have combustion and the combustion creates a pressure, moves the
piston in the engine, and the Piston moves the the crank shaft, and that shaft moves the tire,
and the tire starts to move as you accelerate, and apply for the gear or it is an automatic gear and
so on. So the point at which you put your car key and start and to the point where your car starts
to run, that can be more than you know couple of hundred reactions that take place. Each and every
step is very important. So therefore putting in the key is equivalent to Photon striking your
photo receptor. And then your visual perception at the end is sensed and similar is the cars
moving response. So therefore if your carburetor doesn't work in your car and reactions you know
one you put your key and everything will start to you know fire and move but then in the carburetor
component which can be the 75th step doesn't work then the whole process stops at 74 okay it doesn't
cross that and go to 350 in the eye. So what do you do then. Then what you have to do is that
you have to replace that 75th Gene okay by your gene therapy or there are other therapies. We'll
come to this at the end of the talk. So that is how the the scientist and doctors are trying to solve
the genetic diseases problem. Okay they're trying tto fix so that these pathways are completed and
therefore at the end of it, the subject is able to have or recover or rescue with their vision
as well as hearing. Okay. So we'll talk about that as we come to the end of our talk now.
I have actually completed uh talking about what is Usher syndrome. And then I will move on to the
next part which is genetic counseling. I'm using some of my patients data here. I have taken
their permission but nevertheless I have kept it very private. I have to keep my ethics. okay
in not trying to review too much about what I'm talking and telling about their condition over
in an in an open talk. I we do use this data a little more openly without revealing people's
privacy okay or identity in our medical talks. But I can't do that when I'm talking to sort of an Usher
syndrome group. okay so some of my slides are quite concealed. but then I have to use them when
I give a talk and somebody wants to knowmore details I will definitely reveal it but without revealing
the privacy of my my subjects. okay so what you see here is that of one of my very long
time subject who's been with me for quite long time. and he has the condition called as Usher
syndrome as we are talking. And his retina is what what I'm showing here with quite a lot of
pigmentation. And his daughter also picked up some of the information of her is also here
in the slides. and this is a bit about their family tree and he and his daughter are affected
in and others are not affected in his family. and when we ran through some of the genes
that cause Usher syndrome in his family, we found that he has USH2A, a gene that is having variance
and that is causing the condition. so there are two variants in his family. and one of the variant is
common between him and his daughter. and the other variant are different between the father and the
daughter. so I'm quite trying to help him to get into the Usher Syndrome Natural Cause of
the Disease Trial that is going on in the US. And he's now enrolled into it and he's
very much on therapy because of his natural condition or background I would say. and he's
more concerned about his daughter. okay so when we do this genetic counseling, it is not only that we
are just vomiting out the genetics to them and we end up with that. That's not the way we do it
in India. We get very close to them and we are very empathetic and we try to explain to
them each and every aspect of progress of research and what is the current status. Okay
so we talk about the genetics so that they know why it just happened in them. and then we talk
about a bit on the natural cause of the condition and how it can lead and and proceed further. And
after which we come to the genetics part and and so on and so forth. Next to this stage there is
a stage where people get inquisitive about getting married. okay that's going to be the next
subject I'm going to talk about and for one of the reasons why they come. So in India people
come for four reasons. okay and I'm sure that is the condition across the world. The first reason
I think I have to go to my next slide but and therefore it come why they come for counseling
in the subsequent slides. So Usher syndrome as I told you has more than a dozen genes involved .
And you have you know USH gene which are of different types. Okay and USH2a is one of
the most common condition that we see in India okay and across the world too. There is a catch
in this gene. It's because it's a very big gene. Okay so therefore when people do gene therapy. Briefly
about gene therapy is that they take the gene of interest and they pack it inside a virus. okay
like the way covid gets into us. So what covid does is that it has its own genome and then it sort of
pushes itself into our cells. And then it gets into our genetic machinery of the cell. And then
it starts to reproduce in that machinery okay and multiplies itself. And then then you know we get
affected with cpvid and then we spread with coughing and you know breathing along with the other people
are not affected. So the virus from us sort of gets transferred to the next individual and keeps on
passing over from one to another and becoming a a pandemic okay so that's the beauty of virus .
So it can get into our system, multiply into in our system, reproduce, and then they can get out and
then go ahead. So scientists captured that ability of the virus and therefore what they did was that
instead of their genome, they they inserted our genome into it, our Gene of Interest into it okay,
not the entire genome, but our gene of interest. and then they made that Gene in in that virus to be
reproduced and now we have say for for example Ush2a gene that is defective being produced. We
can produce the right copy of the USH2a inside our own cells. It can be the the photo receptor cells
in the retina. Or it can be the cochlea cells in the cochlea. Okay so cochlea gene or the protein in the in
the receptor or in the cochlea. okay so therefore that is how gene therapy works. But again packing
a gene of that size is not easy. okay various other conditions of retinal degenerations like
RP65 which causes Leber congenital amaurosis, a very severe condition, early onset in nature which does
make a young child to lose vision. Whereas Ushers is a very slow one, is late in onset in terms
of vision problems. And it's not as severe. okay it is slow and later in onset Usher
but then Leber congenital amaurosis is much earlier. So therefore RP65 is comparatively a smaller gene. It can
be packed inside one virus and that can be made to be multiplied in a laboratory and then you can
transport that, inject it into the retina. okay sub retinum injection as it to set. Very small volume is
enough to have millions of viruses of our interest. And these viruses are basically adino- associated
virus which is a common cold kind of virus. And they are made very safe okay before they are
made to be infected in the retina or injected into retina. So Usher syndrome still struggle in terms of Gene
Therapy. and now they are doing a gene therapy in Europe. Okay there were two groups, one of which
was in Netherlands called ProQR. Nancy knows them better than I do. And they have moved that study
which is an Exon Skipping Study. I'll tell you what that is. And then another company called Stephen Bio (??)
is now has now taken it over. So what they did was that so when a gene, if you say a gene, the exact
way to explain what a gene is is like having a train with many compartments. okay that's that's
how a gene is. And these compartments which we call as exons are amino acids. And then from that exons'
amino acid, we get the whole protein. So it can be a redoxon protein. It can be insulin or it can be
estrogen. Or it can be growth hormone. Okay so that is how they are produced. So they are basically
genes DNA which is translated into, sorry transcribed into mRNA. okay a copy that comes from
the nucleus into the cytoplasm of the cell. And it's a transcribed copy. It's from a DNA to RNA.
And this RNA is translated into a protein as amino acids. Okay and they get out of the
cell and do do the function or they could do the function within the same tissue. Okay so
these are like compartments and you can have a wrong DNA copy in one of the compartment.
The compartments are about 100 in in nature. You can have the 15th compartment a mistake.
Okay now in Exon Skipping, what they do is that if you have a mistake in the 15th compartment
they look at it in such a way that from the 14th compartment, instead of going to the 15th
they jump straight to the 16th. okay so they make a protein without that 14th compartment but still
that protein will be fairly functional. That is Exon skipping and this is something that ProQR
has been doing in Usher syndrome particularly in USH2a. And I think the pandemic came and
created quite a lot of hardship and this now is taken over by a French company called Sephen
Bio (??). So therefore gene therapy is fairly a successful way of treating people with genetic
conditions. I'll come to that at the end of my talk. I'll show your video to believe that okay
of gene therapy. Now this is a slide showing that in Usher syndrome this is the eye. And then you
know the photo receptors are affected. and then it's also the cochlea where you have another type of
a cilia which is also affected. Okay now I'll go into the genetic counseling per se of my talk.
It's part of my title today. So patients come for for four different reason, reasons I shown in boxes
over here. So they come for clinical diagnosis okay. So at times when your clinician is telling
you to do a genetic test, you should ask why should I do the test . Okay everybody should not
get a genetic test done, until otherwise you fall into these four categories as in this slide. Now
when the clinical diagnosis is not clear say see when you say Retinitis Pigmentosa, and when you say
Usher syndrome. You know they don't sound the same. okay because retinitis pigmentosa is meant also as a condition
which affects the retina alone. But Usher syndrome is a condition that affects not only the retina
but also the cochlea. okay so when a condition affects two different parts of the body, or more than two
different parts of the body, multiple different parts of the body then we call that a syndrome.
Okay sometimes what can happen is the one condition might be diagnosed because a person is
a specialist in that okay. So somebody might have Retinitis Pigmentosa with mild hearing difficulty and
they can actually fairly hear and they start to also adapt by having the ability to lip read. So
an opthalmologist might easily miss the hearing component and diagnose it as Retinitis Pigmentosa.
Okay it's not uncommon to happen and can't blame the clinician for that because in India they see
60 patients in in one day. Okay and sometimes more than that. Some of the senior Physicians
so uh it is easy for them to miss such kind of problem when when the subject is
not telling you they have mild hearing issue. So therefore when they do a genetic test they will
know that it is you know USH2a or USH gene that is causing the condition okay. And they can correct
themselves. It's not an isolated problem but it's a syndrome. And also knowing that what type of gene
is affected whether it is autosomal dominant, autosomal recessive, or X-linked recessive. They can
predict the natural cause of the condition. Say in autosomal recessive or X-linked recessive, the condition
can be reiterating very quickly. So they have to be sent for appropriate rehabilitation so that they
able to cope with the situation much faster. Autosomal dominant is generally much slower. Okay and
not only that it has lot of implications about the marriage and next child and so on. And therefore I
move from the first box to the second box. So in the second box, people come to us to know
whether they can get married because they have somebody with a genetic condition in the family.
Or they have immediate relative like a brother or sister affected. Will that cause any issue
with them or they themselves might be affected and therefore they can ask about can I get married and
have normal children. and or they can come and say look I I would rather prefer whom I
should choose as my partner. Okay and and they can be people belonging to a particular group.
Okay or a community where a genetic condition might be much more prevalent. Okay for example
if you take in in the US sickle cell disease is quite predominantly present in the American
blacks. okay and therefore in New York it's mandatory that they have to undergo genetic counseling
because two people might be carriers of sickle cell disease. And the the third reason why they
come is that they have a previous child and or they might have a family history and they would
have been already married and therefore they come for preconception counseling or prenatal genetic
counseling. Okay so and there are many tests to be done prenatally. And you can test them. I'll show you
one of our patients in whom we did do prenatal diagnosis. And the fourth reason is the the Usher
syndrome 2A subject I showed earlier. People come to know of research intervention , genetic
research, gene therapy, stem cell therapy, you know for retinal implants, okay clinical trials
for a particular gene, and so on. So therefore they come and want to know what gene it is okay.
So we clearly tell them this test will not give you any result or benefit after knowing what Gene it is okay. So
you know you have usher syndrome. Doing a genetic test and knowing molecular diagnosis of which USH2a is
not going to benefit okay. We don't do a genetic test test to know molecularly what it is are only
trying to recoin somebody's condition. So otherwise the you know for the first three reasons
when they come we straight away go ahead and do the test okay. The fourth one we make them very
clearly understand that it's not going to be of any benefit doing this test because stem therapy and
other things are not still in the pipeline of describing practice. Okay right now let me go
to I'm not going to go all of them I go to to the second one straight away in a premarital situation
I mask the slide the pedigree. So here's a girl who you know mid 20s graduate who whose
parents married consaguineously. They are uncle and niece which is not uncommon in our country particularly in
southern part of India where such blood related marriages are not in common but that is you know
dwindling very fast with education and knowledge and awareness. And these parents are about
you know close to 50 years of age. And therefore half a century ago they got married consanguineously. And
because of that she's affected. okay and she has her own other sibling and affective. Now because
she's a graduate she read somewhere and knew that it's a genetic condition. It can recur in
the family therefore came for counseling. We took the pedigree. It was classical autosomal recessive
inheritance and we told her clearly if you marry outside your family, outside your community, then
you your children won't be affected. But being a graduate she put her foot down and said yes I know what
you say but then I want to know exactly what my Gene is and I want to know what the mutation
is okay. So we did the test. And when we looked at the gene we found a particular Gene which
is a bit more common in India, to be positive of Usher syndrome. So she had a gpr98 gene Exxon 70.
This Exon 70 is a compartment I said where she had a change from DNA letter C to T, glycine
in the 4,777 region, became a termination which means it stopped you know translating amino acid.
And it was in two copies because her parents were blood related. They gave the identical copy
to her and she had Usher syndrome type 2C ___ when classification of that variant was was pathogenic.
And if somebody wants to know more about it, I can I can talk in the question session what is
pathogen or variant of unknown significance and so on. Now so therefore it's same her pedigree
and we told molecularly that see look you have two copies wrong and when you get married to
somebody who's not going to be related to you they won't carry this copy but we'll check it before
you you get married or after you get married. And then we can be sure that he the other partner
is not carrying it. And you will definitely give one copy to the child and your partner will give
one right copy. You give one wrong copy you'll give one right copy. A child needs two wrong copies to
have the condition. And therefore your child will not be affected okay. I don't know whether she
married or not but she was quite satisfied with what we said okay. This was couple of years ago
that this happened. Now this is something as solution we give okay. Even many clinicians think that the moment
somebody has a genetic condition that means that you know nothing can be done. And therefore of
course from treatment point point of view what they say is right okay. Today there's nothing
think that can be done. But tomorrow research will definitely give you a a solution in terms
of treatment. But today the genomic knowledge can give you many solutions as I told you
in trying to know what syndrome it is, the first option. The second option has marriage
options what can be the option that you can choose okay. You have the power and think.
You know unlike the way we do medical practice, the the autonomy in the medical practice is with
the medical doctor or the physician, because they decide what test to be done, what surgery to be
done. But in in genetic counseling, the autonomy is with the subject and their family okay. They
tell us what we should do as genetic counselors okay. We don't have that often use and that's how the
guidelines are set. The American College of Medical Genetics Guidelines and most of the other
countries guidelines are set in such the way that in genomic practice, the autonomy is with the subject,
in the family. Right. Now I'll move on to the preconception and the family that we counseled. And of
course these are not Usher syndrome okay. Previous condition was Usher syndrome but not this one. So this was
[Geri speaking] Excuse me doctor. I'm sorry. Can we stop for a while somewhere and have others
asked questions? If that is possible?
[Dr Kumar speaking] Yeah yeah go ahead. I'm happy to stop and then you can they can ask questions and then I can continue this again. Not an issue.
[Geri speaking] All right, because I'm I'm seeing some comments in the chat. I believe some people were not able to follow properly.
And also also just, okay somebody had mentioned if if you can stop sharing the
screen. If you don't have, if if you can just talk through the topics because some
people are not able to see the screen properly as well as they're not able to see their interpreters
properly, because the interpreters are now small sized.
[Dr Kumar speaking] okay okay you can switch over
that my screen to be a smaller screen and then the Interpreter to be larger. And and I
can take questions now.
[Geri speaking] Unfortunately I cannot control the size of the screen sharing.
Anybody has a comment?
Questions? If if none we might be able to proceed. Let me a sk
the ISL interpreters, do you need to switch?
[Interpreter speaking] Yes now it's about 30 minutes so we will switch. Arwa, just replace as
a spotlight.
[Geri speaking] Okay I will remove the spotlight from Arwa.
[Nancy speaking] And Geri, Yash, this is Nancy, Yash is is signing. It looks like he has a question okay.
[Geri speaking] Saurabh, can you see Yash?
[Interpreter speaking for Yash] So he have doubt that you have explained ____ everything but like in deaf or in hearing.
There are some genetical issue or I want to ask that if a deaf person in a deaf community. Okay he want to know about deaf community
and sign language like hearing person have syndrome, Ush syndrome. You are talking
about regarding to the hearing Community, right? As any deaf person have faced this issue? Any deaf person?
[Dr Kumar speaking] What issue?
[Interpreter speaking for Yash] Usher syndrome.
[Dr Kumar speaking] Of course actually. It depends on where what kind of institution it is. If it's an authenic institution, people come with vision problem. And then the hearing
condition is diagnosed. Whereas if you're running a hearing institute and the hearing issue is
detected and they go to hearing institution and then finally they know that it is Usher syndrome .
Both ways it can happen. okay both conditions don't happen at the same time. I've seen it with
my subjects. So the vision problem can usually it is later in onset. The hearing condition.
[Interpreter speaking for Yash] Okay for example in world and laboratory there are there are a lot of ___ there are a lot of
like on visual in visual chemicals.
[Dr Kumar speaking] You know your voice got lost in the middle.
[Interpreter speaking] I'm audible?
[Dr Kumar speaking] yeah you're audible but your voice got lost in the middle if you can repeat what you said that would be good.
[Interpreter speaking for Yash] okay he is asking you that how we can improve visual impairment. the basic question is how we can improve any visual impairment in Usher syndrome.
[Dr Kumar speaking] okay um see there are uh um visual Rehabilitation programs. so what happens with uh visual perception
loss is that as I was talking I was telling there are 120 million rods and uh 6 million
cones in each eye. So when you start to lose the rods you start to lose the peripheral vision
and you start to lose the uh you know Twilight Vision or uh low light vision. okay you get into
a movie theater you find it difficult to adapt and get into the seat in your the row that you're
alerted. so therefore uh um this only also start to lose the reading ability because
the cones also start to deteriorate so when the cones start to deteriorate uh or when the
rods start to reduce in your peripheral vision is getting reduced. then when the peripheral vision is getting
you know tubular and tubular uh they can give you certain glasses that will help to widen that view .
okay that's the rehabilitation when your rods are getting lost. whereas if your cones are lost
and your reading ability is getting lesser and lesser, they try to give you um certain lens that will
magnify or they can use certain um say devices that helps to magnify uh if they are reading
a book there can be some kind of a desktop which will magnify or it can be your mobile
phone that can magnify the letters so that you can actually read better. okay so that is
they try to rehabilitate people as they slowly start to lose the rod or the cone vision. Okay uh that's
a field by itself and most of the eye hospitals in India do have those services of Visual
Rehabilitation and usually the optometrist are the people who deal with it and there are quite good
devices wearable devices okay which you have very good companies across the world uh which provide
you with certain uh wearable device that you can wear in your spectacles and they can widen your
vision or they can magnify uh what you're seeing and so on. okay so I hope I have answered that
question. Okay?
[Interpreter speaking for Yash] He is asking that when we getting elder so our vision become weak right. so I I want to ask that how is
it possible when I am in 80s or in '90s my vision still stay strong. I can see clearly without any
issue. How it can be done because you know now our lifespan become less and our vision is not good
in 21st century. so I wanted to know that how I can improve my vision. And in in some deaf community
people don't know about usher syndrome because they are just staying at home. they don't
know about vision impairment and all. okay there is lack of uh accessibility so how we can sort it out?
[Dr Kumar speaking] okay uh I'm not expert uh uh in hearing disability per se okay but I know that if you
take 100 people with hearing disability um only a small section of people will have usher syndrome okay
so sensory neural loss depthness um there are more than 100 genes responsible causing uh defects in
the cochlea particularly okay in the the inner ear and Usher syndrome is a very small section of that. okay
but Usher syndrome if you take in terms of visual conditions Usher syndrome is quite a big group
okay and therefore if you take curing per se um there are genes that cause only hearing disability
and those people will never get any visual perception loss okay so you should not get
confused between hearing everybody who has a hearing problem will develop usher
syndrome that's not the case. okay so um there are there are several genes
that causes uh hearing problems and they don't cause vision related issues at all
okay yes some question from Divya I think right.
[Geri speaking] hello this is Geri. I think we've we've lost uh the ASL interpreters . Who should I
[ASL interpreter speaking] This is the interpreter speaking. You have not lost us. I just need you to spotlight Diane please.
[Geri speaking] all right all right got it.
[Dr Kumar speaking] I think Divya started off with some question. We can probably she had.
[Interpreter speaking for Divya] yes Divya does have a question. we're just waiting for
her to be able to see the interpreters in order to ask her question. Please just hold a moment.
[Geri speaking] Diane, you are spotlighted. [Interpreter speaking for Divya] Thank you. My question is um what is the future generation of gene therapy look like as
what what is the plan for the future generation of gene therapy.
[Dr Kumar speaking] okay um I've come to the the
component I've not yet come to the component of gene therapy. I'll finish my talk and then talk
about it or do you want me to talk because it's a a little premature of at the at this point of time
I will complete hopefully another 5 seven minutes um and then um shall I talk about that? Or do you
want me to talk right now?
[Aruna speaking] uh this is Divya's Mom. okay Dr Kumar all right the problem with your in
no way do I mean disrespect in any way okay this is too scientific for the for everybody. Perhaps if
you had uh done a small like a a presentation but a uh a less scientific presentation for everybody
and just points. Points is what we needed at this time. so that we can grasp what you're trying to
tell us okay and then ask proper questions. this is too much too scientific.
[Dr Kumar speaking] okay um I have not
done too many uh you know talks to people uh with the uh condition. I've done it in India.
um this the first time I'm doing it online. I have kept my talk very low tech. I have not kept it very
high tech. in fact that's how I felt. all right um otherwise it will be uh I don't know if it be if
we don't use the medical terms and give a talk it will not because I've been trained in US and in
New Zealand, I can't give a very very superficial talk. okay uh certainly we can if you feel that
my talk is very scientific, you can note down points and you can ask me those questions where
I've dealt it very scientifically. I can make it quite simple. in fact that's why I put a car
engine as a similar and try to explain that.
[Aruna speaking] the other issue that we have with this presentation
is that there's very little contrast. I mean even slides for the slides I'm talking about
the slides okay. um the the the thing is for a de blind person they cannot see what's going on
in your presentation. it's even hard for a normal person like myself and my husband to see what's
going on in your presentation.
[Dr Kumar speaking] Okay I uh because I have used images that we generally use in
our talks and uh to get them into a contrast and other things only people from your group can help
me. Otherwise I I will not be able to appreciate that.
[Aruna speaking] right okay i' be more than happy to help in
any way that we can uh but right now the slide that you are showing right now I can barely
see it.
[Dr Kumar speaking] I have kept it deliberately like that. I didn't tell that because of my my subject privacy
I'm not revealing many things. okay I have both a moral ethical and legal implication particularly
this is online talk okay. so therefore I masked it deliberately which I did tell in my talk. it's very
difficult to _____ to show that. you understand uh because this somebody's life and I can't talk
openly about it. this is a problem that we face in the field of medicine okay. so when we give
a medical talk we always keep everything open. I understand your point right now and that has been
done deliberately. I did talk about this to Geri that uh I have this issue because I'm talking to
patient group and I have to be very careful. in in fact she wanted a copy to be circulated
I raised my concern because it is some information that I I cannot reveal out because of my uh ethical
restrictions. it just have to be done to restrict the uh information. today's
[Aruna speaking] and I'm not asking you to
share any patient information. that's not what I'm asking at all. I'm just like if you're if you're
doing a presentation you can certainly take out the information of the patient and still
be able to share uh relevant.
[Dr Kumar speaking] I'll give you an example. okay uh when I when I was working in New
Zealand uh we had a big family uh which we used for our study. and we took all consent everything
and clearly told them this we used uh in our study and then uh when we published these were
not digital days when we published in a hard print their family uh they I we don't know how
but they picked it up they found it in the journal they came and discussed it with us.
and since then we have been jumbling the pedigrees. okay so that is why I masked the family tree completely
l so that uh nothing uh you can identify who it is so I don't know if uh my own patient
is sitting in this meeting. you understand these are tricky things that uh we have to
be careful in our profession uh when we do um discuss these things and I can't discuss very
bluntly about the condition and the situation uh without showing the uh responsible slide okay uh
that is why these are tricky. I do understand your point but um we are legally informed and
we have to be ethiically careful about how we deal with these things. so therefore we have issues on
our side. and it's not that we are masking these things deliberately. you should understand that.
okay and uh there are the rules of genetics is much more stricter than the rules that we have in
the field of
[Interpreter speaking for Yash] sorry to interrupt. Yash here. Yash said that he want to log off now because he have some
urgent work so he don't need any ISL interpreter now so he wanted us to be log off also.
[Dr Kumar speaking] home please
this telling to whom?
[Interpreter speaking] he is telling to Geri that now I'm going to log off so uh
[Geri speaking] this is Geri.
Saurabh and ISL interpreters, please stay online so that you can continue signing and
others who want to view this recording can still avail of the op the the information.
um I would, is that okay Saurabh and Arwa?
[Interpreter speaking] yes he said.
[Geri speaking] okay okay and and also for Diane and Jennifer,
Aruna uh I know it's difficult for Divya and um to to see the slides right now .
Right now I am recording such that the slides are separate from the interpretation. So if the
recording uh is done properly you'll be able to view the recording with just the interpreters
on it without the slides. so I hope that that will be some sort of a compromise . You may
not be able to see the slides properly right now and the interpreters might be small but
once I have the recording you'll be able to see the interpreters without the slides.
[Aruna speaking] thank you Geri. much appreciated.
[Geri speaking] all right.
[Interpreter speaking for Yash] thank you so much.
[Geri speaking] okay Saurabh and Arwa, please uh continue
uh interpreting and uh Dr Kumar uh uh please continue.
[Dr Kumar speaking] Okay so Geri what I will do right now is
that since uh the slides aren't taking uh you know that important role in the talk uh since
the audience has a a vision and hearing issue I would rather say that I will hold back my slide
from this uh point and only give the talk. and we can have the interpreters uh much well blown up
so that uh it makes much good sense. Will that be okay? do you think?
[Interpreter speaking] Geri, Saurabh here please switch us.
Arwa is going to interpret now.
[Geri speaking] okay Saurabh. Yes Dr Kumar uh yes if you can please
Dr Kumar if you can please uh unshare stop sharing okay so now we have the interpreters
bigger now. let before you continue let me first spotlight the correct interpreter. okay just a
minute I'm spotlighting Arwa and I am spotlighting uh Jennifer just a minute
all right is that better? Divya can you see
Properly?
[Aruna speaking] yes.
[Geri speaking] all right thank you Dr Kumar you can continue.
[Dr Kumar speaking] okay thank you Geri um so I
was talking about uh the last um subject who has Stargardt's disease and um he had reading disability and
almost lost his um total vision. and I've seen him from very young age uh for a couple of decades and
he's been talking to me right from the premarital stage onwards and now when he consulted me came
to the preconceptional stage. so before getting into the preconceptional stage we actually uh
tested uh him and his wife for the ocular issue of Stargardt's disease so he had a classical Stargardt's disease
as described in the textbook that the cones are completely lost and so are the rods at the end
stage. but his wife was perfectly normal as far as the vision is concerned and when we did counsel
him premaritally. he is from Southern India and he chose his partner from Northern India so therefore
uh she was not related to his family in the first place. she was not of his own community uh in the
the second situation. and thirdly she was not from the same geographical region. so he's from South
and he she's from north of India. so we tested him and then uh we found that uh from in genetics he
had Gene called _____ in which two of his exons is again a very large gene. exons 2747 there was a
change and these ch changes were pathogenic in nature and that was positive of the condition.
okay so this we call as compound hetero____. now I'm using few medical jargons here. okay I have used
them to make others understand and not keep it very simple at the same time not too scientific
because you are people who could be a scientist who could be an engineer. you could be a doctor .
you can come up with ideas okay which we as scientist or as doctors may not think okay. so
your bright Idea you can discuss with a non scientist or a doctor whom you're consulting
and that can you know trigger and come out with something you know novel. all right. that's the
reason I kept my talk a little scientific in nature. it is not just to uh use some medical
jargons. all right so therefore he had a change in the gene called as ABCA4 Gene which is one of
the most common gene that causes Stargardt's disease across the world. and so it is in India
now. we tested his wife okay and with my experience with the family tree there was no connection
between the uh male and the female in terms of blood and also community and so on and with my own
practice where we have not done genetic testing almost 80% of my career I was very clear in my
mind that his wife will not carry any change in this ABCA4 gene, like her husband okay. but when
we tested it so happened that she was carrying a likely pathogenic variant which was a learning
curve for me. Having been in this field of genetic counseling for last 30 years uh I was taken aback.
okay uh fortunately we did this test and when we counselled um the uh affected person with Stargardt's
disease was very clear that he wanted to test her okay. and therefore when we tested we found
she had a change. so now we have a situation where the husband has two wrong copies. the wife has one
wrong copy and she has one right copy okay. now the options are only two. the fetus can pick either of
one wrong copy of the father and one wrong copy if it choses from the mother. it will be affected .
whereas if it chooses the right copy it would not be affected okay. there's a 50/50% chance of the
child being affected with the same condition okay . so these are situations where not only the patient
and the family but we as genetic counselors also get equally tensed okay. so a prenatal
test was done and when the prenatal test was done fortunately the fetus picked uh the right copy
from the mother okay. so in 15 weeks when we took the sample by the 16th or 17th week of pregnancy
we told that this child will not be affected. this child is born. it's a female child about
year and a half in the middle of pandemic it was born. second pandemic wave. and the reason I brought
this to discuss today is that this is one of the solutions you can offer your patients and this was
information in fact I gave this talk in the All India Ophthalmic Society meeting in Culcatta last month. and
this was well appreciated by the physicians. They were totally unaware that we could do all this in
India okay leave alone whether they can be done or not. so therefore these are awareness thoughts
that not only uh the physicians should know about it but also public. and people who are affected
should know so that they can talk and create an awareness amongst their own community. now
with that uh I come to the last part of my talk which is the what are the types of therapies
that people are looking at okay. now Usher syndrome as I as I showed in one of the slide has about you
know 16 genes that are responsible for having Usher syndrome type 1, 2 and 3. okay now in
uh the first Intervention which is called as DNA interventions, you can replace the gene which is
called a gene therapy or you can correct the DNA letter change which is called as Gene editing or
genome editing. and these these two techniques are quite robustly done. and Gene replacement therapy
is very successful as far as RP 65 is concerned. and Usher syndrome, Stargardt's disease, ____ , various
other conditions are already in clinical trials, if I'm right okay. now that's about the gene therapy
or DNA interventions which is the first uh type. now in the second type there is something called
as RNA interventions. again that is uh picking up much more um speed and traction compared to DNA
interventions because it's much more easier, less expensive. so RNA interventions there are two types.
one is called as Antisense Oligonucleotides Therapy and the second one is called Translational ___ Through
Drugs and so on. so both these techniques are uh picking up, particularly the RNA interventions
where they try to do what is called as RNA editing. and that is much more effective and not too
dangerous as the term called as the Off Target Issues which is which is quite dangerous in in genome
editing okay. so therefore one is DNA intervention where we have two types - Gene replacement therapy and
Gene editing. the second one is RNA interventions. The main one is called as the antisense oligonucleotides
type therapy or ASO therapy. and the next one is called as the Cell Therapy. okay and the most
common one used in that is the Stem Cell Therapy. okay so in that there are different techniques
involved where you can actually take a stem cell from the same individual and then correct that
with some kind of editing and put it back in the individual. okay this is one of the safest one that
you can do. or you can actually take a cell from other individual and then you make it as a stem
cell which is very oriented towards retinal cell and then you can implant it. but then that would
need uh imuno supression in the individual because the cell is not of self origin. it is
a foreign cell taken from another individual and given into you and therefore it's equivalent to
doing um transplant, kidney transplant or any other liver transplante and so on. immunotherapy
suppression um imuno supression is is mandatory in such kind of therapy state. but again stem cell has
not caught up at least to the best of my knowledge like the way DNA intervention particularly gene
therapy has caught up with. but again if you ask me the cost and factors like that um gene therapy
is very expensive. unaffordable in fact but um um maybe Nancy can throw better light about it for
an Indian audience. and stem cell therapy may be much more cheap power uh but then still we have
not seen it to be very useful in ophthalalmology. it's much useful in in hematological disorders okay, at
least that's the way the it's perceived in the field of medicine. so that is about the therapy.
and therefore I come to the end of my talk . I spoke about Usher syndrome at the beginning and
then I explained what it is in terms of uh its effect in the retina and its effect in the cochlea.
and then I did talk about genetic counseling which is my field um that I work on today
with my subjects. and in uh genetic counseling we can help people in terms of diagnosis, or whether
when they want to get married, when they want to have children, or they want to know uh what
kind of gene the condition belongs to. okay but each time you do a genetic test doesn't mean
it will result in a positive result. okay uh the chances of you getting the right gene and
the right variant will be around 60%. okay 40% of times you'll be back to square one and therefore
we don't recommend genetic test for everybody. so there are therapies the very promising one is the
DNA intervention. second RNA interventions and early cell therapies okay. so that's how the field
is right now. but having seen the field prepandemic and post pandemic as somebody who's been in this
field for more than three decades uh I can see quite a lot of traction post pandemic. the pandemic
did actually create a big obstacle in the field of therapies but then um it has done good I would say.
having gone to some other the meetings connected with therapy uh since last two years after the
pandemic I see that there's quite a lot of traction in therapies. and hopefully in less
than a decade there is you know quite a lot of application and therapies that will uh
be happening. again we have no idea what the cost will be but certainly there will be uh
sort of crossroad we have faced uh during pandemic and a new pathway will be found or what we all
see in this field.
[Geri speaking] excuse me doctor. I'm sorry to interrupt you but it's already uh at the end
of our uh meeting time so I would like to request you to wrap it up if possible in in a minute or so .
[Dr Kumar speaking] I already finished.
[Geri speaking] all right all right. um I would like to open uh the floor to one or two
more questions and after that. okay there's a question. can you please share the number
of people affected by Usher syndrome in Tamil Nadu. that's one of the questions raised.
[Dr Kumar speaking] well I
have no idea either. nobody has that kind of data as far as I know but if you ask me uh if in my own
clinical practice uh how many Usher syndrome do I see in a month uh compared to Retinitis
Pigmentosa I've seen um three retinitis Pigmentosa patients in a day when I was working in Sankara
Nethralaya. I'll see at least one or two Usher syndrome in a month. that's the difference in which I
see. again these are not patients from Tamil Nadu. um I don't think such data is ever published actually
even for Retinitis Pigmentosa. they they would say that it's about one in 4,000 who are infected with RP
globally. it's a conservative estimate. but Usher syndrome I don't think such kind of data is available for our
state. okay okay it's not a big …
[Divya's Dad speaking] Dr Kumar this Divya's Dad. okay is any in India anybody working
on CRISPR Technology for Usher syndrome?
[Dr Kumar speaking] not that I know sir. not that I know because um CRISPR is
basically genome editing. uh I don't think anywhere in the world, Nancy might correct me if I'm wrong,
anybody works with genome editing for Usher syndrome. okay um because the problem with genome
editing is that um it can't be, say if you take stem cell. uh if you make stem cell then it can
work for anybody with say Usher syndrome. okay it's much more generic in nature but genome editing
has to be personalized you know. I'll have a mutation in say compartment 12. another person will have it
in compartment 15. genome editing can't be the same for both of us. okay it has to be personalized. and
therefore I don't know if anybody is attempting. I've been searching for this uh gene therapy in
Usher syndrome quite extensively and Nancy connected me with this uh Sepul Bio Group (sepulbio.com).
thankful to her. um but I have I can find out and tell you but at least uh at the clinical level I
don't think anybody is working. I don't know in the preclinical uh level if anyone is working
on genome editing. but having said that genome editing is the right way to correct uh a condition.
because you're correcting the DNA letter and the gene will start working. it's like putting back the
carburetor. okay and it start the car will start working. so um I don't know if anybody's working
that is my I reply to you. but I can find out and then uh inform Geri so that she can inform you.
[Divya's Dad speaking] thank you so much.
[Geri speaking] this is Geri. it seems like Nancy wants to say something.
[Dr Kumar speaking] yeah yeah sure.
[Nancy speaking] yes first of all this is Nancy. this is Nancy speaking. can everyone hear me? I'll
look at the interpreters. okay they are signing so I'm guessing that my audio is working. um Dr
Kumar thank you so much for this uh presentation. every time we hear more about the research I know
for myself it sinks in a little bit more. um I'll bring that car analogy uh around with me.
today very helpful. um but uh there are a couple of things. um I don't know of any uh CRISPR or
any really large scale uh Gene Therapies that are taking place in the community right now.
in case individuals don't know we are having our conference in July and our research presentations
will be on July 20th. they will be available online. so if anyone wants to um hear the latest updates
on research um I'm sure Geri can send out the link if you'd like to participate remotely and
get those updates. uh number two uh the numbers were asked about. uh we at the Coalition generally
have taken estimates from researchers in various uh countries, in various studies .and we kind of
generously say that between one in 17,000 births um would result in a child having Usher syndrome.
um but again as Dr Kumar said it's really it's really just a guess. it's just a stab in the dark
because we don't have good numbers. and what does help is the database that was referred to earlier
which is called the USH Trust. U-S-H and the word "trust". it is about a 10 question um uh survey or
if you will, and the uh Usher syndrome Coalition maintains basic information about individuals
who have Usher syndrome worldwide. we have about uh 2600 people in it right now from 74 countries.
and this data is used when researchers ask us if there are enough people to participate in a
clinical trial because we do assist with outreach and finding uh participants for
clinical trials. so if you uh get into that uh contact database you will be the first to know
about research recruitment worldwide. um I just wanted to give those two points for now thank
you.
[Geri speaking] this is Geri. thank you Nancy. uh Lata has her hand raised. uh and also uh I I'll
have to say Lata that this this would be the last question.
[Lata speaking] can you hear me.
[Geri speaking] yes we can.
[Lata speaking] okay Doctor my name is Lata. i want to have some details about my son. he's around 50 and he has
Ushers. and he lost his of course he is deaf. and he lost his vision almost completely around
four years back. okay but uh since six months and since September he's having a slight Improvement.
[Dr Kumar speaking] improvement of vision or hearing?
[Lata speaking] vision vision. and uh to the point that he can now recognize a
few rupee notes. he can work on the mobile phone. he can read the mobile phone actually messages.
and so I just want to know whether it will ever improve. this RP. will it ever improve?
[Dr Kumar speaking] well
basically um I have seen this and many people have reported also with with our patients that
we do see in our Clinic. uh there is always a waxing and waning as far as vision is concerned.
and again uh scientifically talking about it they say that there are some growth factors
in the retina. and therefore uh certain parts of the retina gets revived. uh and therefore the
photo receptors become active. um since you said this, um you kindly I would suggest you probe more
with your son. uh if there was any kind of lifestyle change that he adopted.
[Lata speaking] no absolutely
none. absolutely none.
[Dr Kumar speaking] you better check it out okay.
[Lata speaking] yes because he's living with me so
I know that.
[Dr Kumar speaking] it could be something with diet it could be you know some kind of Lifestyle practice.
waking up or going to bed. or you know walking in the streets. and eating a particular food that is …
[Lata speaking] no no no no nothing of that. absolutely no change. I know that.
[Dr Kumar speaking] no there must be something otherwise
this won't happen Madam so can you check with him. okay it can be uh some fear that he must
have know gotten over of and therefore um it could be certainly something very important. because when
you tell these things to scientist and uh patients I mean to doctors then they can work from that. all
right so therefore uh you know when I do have some of my patients who have reported such things and
I've probed into them and um you might find something. it might be some tablet that they
would have started or they would have stopped. okay either one could actually result in this
kind of change. so certainly the I have seen some people completely losing vision one morning. they
give me a call saying they can't see anything. and then they regain it after a couple of days. okay
uh these are very difficult to explain. but again it could be something with growth factors in the
retina and retina. but that's a good news actually.
[Lata speaking] okay thank you very much thank you very much.
[Divya's Dad speaking] I just
last question to Dr Kumar. just quick. is L-Histidin Supplement helps for the Usher syndrome?
[Dr Kumar speaking] I'm not sure sir. i'm uh uh I'm not sure. there are few studies which are related to amino acid
replacement and few drugs also uh which they do recommend. I've seen and some clinical trials
on the drugs are also going on with the ____ uh clinical trials um but I can find out. um
both the questions you asked today. one is genome editing in Usher. and I whether it's preclinical
or self study I will let you know. and also about this L-Histidine. okay know so that you get
feedback.
[Geri speaking] all right this is Geri. thank you so much Dr Kumar. uh we are 15 minutes over but uh thank
you so much for uh all the information. I know we struggled uh trying to understand the interpreters
as well as the slides. but I think the question and answer at at the end um that was that was worth it.
uh one thing I need to mention also with uh Lata's question about her son, uh her son had 17 years of
treatment at Shreedareeyam as well as uh uh something like a stem cell therapy which they thought uh did
not work out so but that was uh a few years back. whether that has anything to do with the sudden
uh Improvement, even little bit of improvement in his sight, um it it it's not clear here. but
I just wanted to to mention that because uh as a parent with a son with Usher I want to hear
good news that vision can be you know improved. but you are correct, we need to research what has
been done to reverse this, what lifestyle changes has been done.
[Dr Kumar speaking] okay we will uh discuss about this
if Madame Lata wishes along with Geri. we can follow up with that and I can interact one-on-one online
and we can discuss because even the stem cell therapy per se could have caused good or could
have caused bad. and it would have waned away and the vision could have come back. it's difficult to
guess these things. but therefore uh uh you know um it is something we have to discuss a lot
actually.
[Lata speaking] excuse me yes any information I can give you regarding Arun I can give. there's
no problem. yes yes and I be happy to share information and uh I think I'm hoping that
there'll be some improvement also some more Improvement.
[Dr Kumar speaking] yeah I'll come back to you through Geri.
[Lata speaking] anytime doctor thank you very much thank you appreciate.
[Geri speaking] all right this is Geri. I
will set up uh that meeting because I'm also very interested. um yeah but uh I have to say
that we need to end the meeting now. um I will uh this uh talk is being recorded. I'm going to
edit the captions and uh announce to the group when it is available for for viewing. thank
you so much everyone. um I have to say good night now. bye bye bye bye thank you thank you
No comments:
Post a Comment