It’s Prime Time: Can New Gene Editing Technologies Re-write the Future of Health?

00:01:00
Dr. Kaylee Byers: For Ty, getting sick didn’t just mean staying in bed. It often meant
hospitals, procedures, and never quite knowing what was coming next.

00:01:09

Ty Sperle: I would kind of just be driven here, stay in this room for a while. “Oh, I need
this needle? Okay, next thing.” “Surgery now.” As I got older though, I was more aware
of what was happening, and it was affecting me mentally. I would have to leave school
for months at a time, and it sucked. Simply, it sucked.

00:01:29
Dr. Kaylee Byers: Despite various ongoing treatments, nothing could really fix the
underlying genetic cause, until one day, his doctor told him about a new clinical trial.

00:01:40
Ty Sperle: Our family had heard of gene editing, and to us, it was something that was
in the far future. This is futuristic technology. But in October of last year, my doctor
basically just sent me an email saying, “There’s this trial going on.” And then, I basically
just said, “Yes,” as soon as I could because it’s a once in a lifetime opportunity.

00:02:02
Dr. Kaylee Byers: And what came from that decision was something bigger than Ty
ever thought possible.

00:02:08
News clip: A British Columbia teen is the first person in the world known to have
received and been cured of his rare disease by breakthrough gene editing treatment.

00:02:17
News clip: Did you know that human genes can actually be edited to cure chronic
disease? Well, that’s exactly what happened to on BC man in a world first clinical trial.

00:02:26
Dr. Kaylee Byers: The trial was a big success, and Ty made history as the first person
ever to be treated using something called Prime Editing.

00:02:35
Ty Sperle: Basically, 20 doctors came in. They’re all smiling, grinning ear to ear, so I
kind of knew what was going down. But when they told me, it was just surreal. I don’t
know how to explain that. It’s just an amazing feeling simply. First thought in my mind
was like, “I’m cured.” That was my first focus, but it didn’t really clock to me that it was
the first in the world.

00:02:57
Dr. Kaylee Byers: So, what exactly is Prime Editing? What makes it so
groundbreaking? And if Ty is the first success story, what could it mean for the future of
medicine?
You’re listening to Nice Genes, the podcast that explores the prime genomic stories
shaping our world, brought to you by Genome British Columbia. I’m your host and gene
editor-in-chief, Dr. Kaylee Byers.

00:03:27
Dr. Stuart Turvey: How’s that? Yeah. I will try not to bang on the microphone.

00:03:31
Dr. Kaylee Byers: Dr. Stuart Turvey is a pediatric immunologist at the BC Children’s
Hospital.

00:03:35
Dr. Stuart Turvey: We look after children in the province who are born with weak
immune systems, and we look after all kids here in BC and in the Yukon, actually.

00:03:45
Dr. Kaylee Byers: And he also happens to be one of the doctors who’s been treating
Ty for years. Dr. Turve, nice to meet you. You’ve been caring for Ty Sperle for more
than a decade. Can you take us back to when you first met him?

00:04:01
Dr. Stuart Turvey: Yeah, more than a decade ago, we met Ty, and he had an immune
system problem that meant that he was having recurring and life-threatening infections.
And it’s tough living with one of these immune system disorders because you’re needing
to do the preventative medicines every day, but then, I think, always in the back of your
mind, this worry that something might sneak in. And, “What about if I’m exposed to
someone at school? How do I live my life?” So, it’s a real burden.

00:04:31
Dr. Kaylee Byers: Oh, huge burden. But before we talk more about Ty and his
incredible story, can we first sort of ground ourselves in rare diseases? What actually
makes a disease a rare disease?

00:04:43
Dr. Stuart Turvey: Yeah, I mean, often it’s something like less than one in 2, 000, less
than one in 3,000 are the numbers. But what’s kind of interesting about that is that rare

diseases aren’t rare because there’s so many of them. And so, we estimate that
something like one in three children admitted to BC Children’s Hospital actually has
some form of rare disease. So, while individually rare, as a collective group, they’re very
common. And Ty has a condition we call chronic granulomatous disease. So, this is an
immune system disorder where it’s actually a problem of making bleach. So, the special
cells of the immune system called neutrophils normally will eat up bacteria that infect us
and then make bleach to kill those bacteria. People like Ty, their neutrophils can eat the
bacteria, but they can’t kill those bacteria. They can’t make that bleach. And so, the
problem there is the risk of invasive and severe life-threatening, even fatal infections.
So, chronic granuloma disease is a sort of classic immune defect.

00:05:54
Dr. Kaylee Byers: Yeah, I love the framing of the making of bleach. I don’t think most
folks would realize that that’s actually happening in their bodies, that they’ve got a little
cleanup system. And what does treatment for this disease look like traditionally?

00:06:05
Dr. Stuart Turvey: So, for chronic granulomas disease, the standard recommendation
would be, because it’s a very severe and life-threatening disease, to go ahead and try
and do what we call hemopoietic stem cell transplant. That’s the formal name. And
really what that means is using chemotherapy to take away the not optimally functioning
immune system and then to give blood cells from a healthy donor and have their
immune system grow in the body, so replacing the immune system. That’s a very
effective and life curative treatment, but it’s a big deal obviously, having the
chemotherapy, wiping out the immune system with many months in the hospital. The
other problem is that not all of us are fortunate to have a good donor. And so, for those
patients, it becomes tough and we can run out of options.

00:07:02
Dr. Kaylee Byers: Yeah. So, let’s talk about this option that Ty ended up having. What
was it, and why do you think Ty would be a good candidate for it?

00:07:11
Dr. Stuart Turvey: Yeah, so the fundamental problem for Ty and for people with his
type of chronic granulomatous disease is a spelling mistake in his DNA. That means
that his bleach machine doesn’t work well. And so, the hope, once we knew the genetic
underpinning of the disease, would be there might be a way to correct that spelling
mistake. And so, that’s ultimately what Ty had. He underwent a process called Prime
Editing. So, if we wind it back a bit, ever since we really sort of knew that DNA spelling

mistakes, genetic changes, caused human disease, the hope had been the ability to
correct that spelling mistake. That’s the ultimate precision medicine.
And so, over time we’ve moved through iterations of gene editing, DNA editing
technologies. I think a huge inflection point in that happened with the Nobel Prize
winning discovery of CRISPR, and that was great. It had some downsides, and one was
this idea of doing double-stranded DNA breaks. Breaking both strands makes us
nervous because you lose the ability to kind of correct from one of the strands. And so,
we’ve evolved through amazing research to get better and better at that. So, the next
kind of iteration, I think we’d call base editing where you can change one nucleotide.
And the extension of that is, this one we’re talking about, called Prime Editing, which is
really the ability to rewrite parts of the DNA and also using a single strand break. And
so, we’ve moved through generations. It’s a little bit like, I would say, moving through
our ability to edit documents, where base editing might be a little bit like a pencil where
we rub out one mistake and change it, where Prime Editing’s maybe a little bit more like
a word processor where we can make a larger change.

00:09:23
Dr. Kaylee Byers: It is truly amazing. It does make you feel like you’re living in the
future. And this is a completely new treatment, right? It hadn’t been given to a human
before this. So, how did you sort of navigate those unknowns?

00:09:37
Dr. Stuart Turvey: So, what the process involves is taking Tai’s cells called the
hemopoietic stem cells. So, these are cells that make all our blood cells, including the
neutrophils. Taking them to the lab, making that spelling correction, checking them in
the lab to make sure it had worked, and then reinfusing those. And so, the unknowns
there were, would it work in the human system? Would it be very precise and only edit
the spelling mistake he had and not have any off-target pieces? And then, the kind of
delivery system. So, bringing back those cells safely. And to do that, he also had to
have chemotherapy to really make space to take down his cells and then allow these
new gene corrected cells the opportunity to flourish in his body. So, lots of risks, some
known, some less well known. I would say that it’s important to realize that this was in
the context of a heavily regulated clinical trial, so approved by multiple organizations.
And so, the evidence to go to a human clinical trial is very high, and then the monitoring
afterwards is very rigorous. So, this was done with the highest possible standard, and
these were the things we discussed with Ty and his family.

00:11:04

Dr. Kaylee Byers: The Prime Editing process Ty went through, taking his blood forming
cells out, fixing the spelling mistake in their DNA, and putting them back in is called ex
vivo, which in Latin means out of the body. That’s opposed to another approach called
in vivo, which is inside the body. Each has their own set of pros and cons.

00:11:26
Dr. Stuart Turvey: Ex vivo is great because we can be sure it’s worked before we
return these cells, but adds layers of complexity in terms of having to harvest those
cells, potentially having to ship them to a central facility to keep them sterile, to get them
back, and then infuse them safely. So, it’s interesting that all forms of therapy have pros
and cons, whether we’re talking ex vivo or potentially exploring in vivo gene therapy, as
well.

00:11:53
Dr. Kaylee Byers: So, you say, “You can check it outside the body to see if it worked.”
In this case, it did work. So, what was that like for you as a caregiver to see this process
and those results?

00:12:05
Dr. Stuart Turvey: This was a miracle for me, I have to say. I know that’s a strong
word, and physicians are usually a little restrained in our language, but truly we knew
exactly the cause of Ty’s condition. And because of this therapy, that spelling mistake
was able to be corrected. And then, very quickly, in his blood, we could see these
normal neutrophils that could make the appropriate amount of bleach, and they filled up
and became all his cells. And so, his chronic granuloma disease was gone. For me,
that’s a miracle. Obviously, it’s new, and we’re watching carefully, and we’ll be looking
and making sure it lasts, but it’s amazing. This is the ultimate goal.

00:12:53
Dr. Kaylee Byers: Yeah, it is. It is amazing. I’m getting emotional listening to you talk
about it. It’s so profound for the person and truly absolutely life changing, absolutely life
changing.

00:13:10
Dr. Stuart Turvey: Yeah. I mean, pediatricians look after sick kids, and we want sick
kids to become healthy and live full and happy lives. And for me, this is just fantastic.
This is absolutely why I became a pediatrician.

00:13:23

Dr. Kaylee Byers: I had a pediatric eye doctor growing up. I was thinking about him a
lot the other day, and I was like, I should send him an email and let him know I’m still
okay. Tell him what an impact he had on my life.

00:13:34
Dr. Stuart Turvey: I would say you should. We love hearing from our patients. We love
good news stories. And sometimes, one of the sad things about being a doctor is you
see people when they’re sick, and then when they’re not sick, they don’t think about us.
That’s nice. That’s great, right? But it is lovely to have successes.

00:13:53
Dr. Kaylee Byers: Coming up, a glimpse into another area where Prime Editing is
being used, one that’s very near and dear to my heart and also face, the eye. So, you
can have a little retina in a dish, essentially.

00:14:06
Dr. Peter Quinn: Yeah, it’s just there floating around doing its thing.

00:14:09
Dr. Kaylee Byers: Just doing its thing. Shine up those spectacles because when we
come back, it’s all irises on inherited retinal diseases.
You are listening to Nice Genes, a podcast all about the fascinating world of genomics
and the evolving science behind it, brought to you by Genome British Columbia. I’m
your host, Dr. Kaylee Byers, and we want to get more people to listen to the genomic
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00:14:47
Captain Picard: Make it so.

00:14:49
Dr. Kaylee Byers: I don’t know if I’ve shared this on the show before, but I have a
complex relationship with my vision. I’ve seen eye specialists since I was a child, and
when I tell people my prescription, the response is usually, “Wow,” which is why I’m so
looking forward to our next guests on the docket today because, and I know I might be
biased here, but our peepers are a pretty ideal place to be putting Prime Editing to work.

00:15:15

Dr. Peter Quinn: So, I’m Peter Quinn. I’m an assistant professor of ophthalmology at
Penn.

00:15:19
Dr. Bruna Costa: I’m Bruna Costa. I’m a PhD and currently doing my postdoctoral
researcher at the PrimeSite Lab in U Penn.

00:15:26
Dr. Kaylee Byers: And no, you’re not seeing or hearing double. Doctors Peter Quinn
and Bruna Costa are two researchers at the PrimeSite Lab at the University of
Pennsylvania who work on developing therapies for inherited retinal diseases. Thanks
for coming on.

00:15:43
Dr. Peter Quinn: Hi.

00:15:43
Dr. Kaylee Byers: I’m really excited to talk to you about… Our family has a long history
of retinal issues. So, maybe to start us off, why is the eye such a great place to be
looking at gene therapies right now?

00:15:57
Dr. Bruna Costa: Well, there are many factors, but the eye is considered an immune-
privileged organ, and that means that it has barriers that limit the access of immunocells
to enter the eye. So, with that, the risk of a severe inflammatory response is limited, so
we can explore different approaches and different therapies without the concern of
having severe inflammation. On top of it, the way we deliver therapies to the eye, it’s
basically locally, and that minimize the systemic effect of this therapy. So again, in
terms of safety, we would be less concerned in having a systemic effect in the whole
body.

00:16:46
Dr. Peter Quinn: Another kind of important thing there is that the eye is pretty
accessible, and we can use different types of approaches to actually look inside our eye
and measure it over time. So, we can measure before treatment and after treatment.
We can look at the structure nearly at cell level, and also we can look at the function.
So, then going on what Bruner says, also just because of the accessibility of the eye
and what we can measure in it, that gives us really good clinical relevant outcome
measures for assessing if a therapy works, which is a very important aspect, as well.

00:17:18
Dr. Kaylee Byers: So, before we get into the technology, can you walk us through
some of these inherited retinal diseases? What are some of the major ones, and what’s
it like to have one of these inherited retinal diseases?

00:17:30
Dr. Bruna Costa: So, inherited retinal diseases are genetic conditions that affect the
retina. The retina is one of the tissues in the back of our eye, and this tissue allows us to
see. So, they are associated with mutations in different genes, and basically the gene
that it’s affected, it either doesn’t function properly or it’s not expressed in the right level
to function properly. So, this leads the cells to die and automatically leads to blindness.

00:18:03
Dr. Kaylee Byers: How many different genes and mutations have been linked to
inherited retinal diseases?

00:18:08
Dr. Peter Quinn: Yeah. Actually, I think it’s now and counting over 300 genes
associated.

00:18:16
Dr. Kaylee Byers: Oh, wow.

00:18:16
Dr. Peter Quinn: But for instance, a hundred of those might be associated just with
retinitis pigmentosa, which is one subtype of inherited retinal disease. And then of
course, each of those genes might have hundreds or some of them maybe even a
thousand mutations in them, right?

00:18:29
Dr. Kaylee Byers: Right.

00:18:30
Dr. Peter Quinn: There’s a lot of genetic diversity there that requires treatment.

00:18:33
Dr. Kaylee Byers: Are there any genes in particular that we would pay attention to?
Give us some inaccessible language acronyms of genes. What are some that we might
look at for inherited retinal diseases?

00:18:43
Dr. Peter Quinn: There’s EYS. Was it EYS? EYS? Was EYS again?

00:18:49
Dr. Kaylee Byers: Oh, that’s fun that they try to make it eyes, though.

00:18:50
Dr. Peter Quinn: Eyes. Yes. Eye sh- eye shot homology or something. There’s RP65.
There’s CROMS, which is one of the things that I work on a lot.

00:19:05
Dr. Bruna Costa: Rhodopsin, PRPH2, Peripherin-2 gene. We have ABCA4, which is
also a hot topic at the moment. CEP290, as well.

00:19:11
Dr. Kaylee Byers: CEP290, ABCA4, RP65, blibbity, blabbity, blibbity blue. Basically,
when it comes to the eye, especially the retina, we’ve got genes for days and lots of
different cell types that those genes are doing their thing in. So, even though the eye
has some natural advantages for gene therapy, like immune barriers and being
relatively accessible, getting the right treatment to the right cells is still a tall order, but
have no fear, Prime Editing is here. So, your lab is called the Prime Site Lab, which by
the way, incredible name. What is the mission of the lab?

00:19:54
Dr. Peter Quinn: Yeah. First, I’ll shout out to a previous student we were doing a pitch
contest with.

00:19:58
Dr. Kaylee Byers: Oh, great.

00:19:58
Dr. Peter Quinn: And then, they came up with the name during the pitch contest
because we were working on Prime Editing technology, and then they were like, “This is
the best name ever,” and then it stuck. And yeah, I guess our mission is to leverage as
many of the new different technologies that we can to understand disease and make
therapies. And that could be gene editing. That’s what we’re focusing on mostly these
days, but it can be a classical gene augmentation. It can be a variety of different
methodologies. It’s just incrementally trying to think of different ways to maybe help
patients. And one of the things that we mostly use in the lab is organoids. So, these are
these kind of mini retinas in a dish that recapitulate our own retinas. So, they have the

layers. They have the different cell types, they even respond to light, which is pretty
cool. And we made these from stem cells, so these cell types that can kind of become
any cell. We can direct any kind of cell or organ type that we can think of by giving them
different factors. We can make them from stem cells that contain mutations of interest,
so contain mutations that patients also have. And then, these models also recapitulate
the disease, and then we can leverage that to one, understand the disease mechanism
more, but importantly, they’re kind of considered clinically relevant surrogate systems
for then testing our therapies, which is what we want to ultimately achieve.

00:21:16
Dr. Kaylee Byers: So, you can have a little retina in a dish, essentially?

00:21:19
Dr. Peter Quinn: Yeah. It’s just there floating around doing its thing.

00:21:22
Dr. Kaylee Byers: Just doing its thing.

00:21:23
Dr. Peter Quinn: Yeah.

00:21:23
Dr. Kaylee Byers: That’s incredible.

00:21:24
Dr. Peter Quinn: Yeah. I think that it seems like science fiction, but-

00:21:28
Dr. Kaylee Byers: It does.

00:21:28
Dr. Peter Quinn: … it’s being done. It’s pretty cool.

00:21:30
Dr. Kaylee Byers: It does. I know. I don’t know if you know the tagline for this season of
the show. It’s the next gene-eration because we want everyone to hate us, I guess, with
our terrible puns. But all seriousness, let’s talk a little bit about Prime Editing. This is a
fast moving field. Prime Editing wasn’t part of, well, public conversation a few years ago.
What current research or studies are you really excited about right now that you’re
working on?

00:21:56
Dr. Peter Quinn: Yeah, I guess we have two kind of big-funded projects on Prime
Editing in the lab. So, one is on something called CROMS-1, which is inherited retinal
disease, a gene that actually causes the full spectrum. So, this one gene, mutations in it
has this really uncorrelated genotype to phenotype correlation, and I’ve been working on
that since my PhD. And gene therapy for it was pretty complicated because CROMS-1
was in multiple cell types, so it kind of makes the therapy strategy using gene
augmentation kind of complicated for it. So, we though, “Oh, maybe we could come up
with a different approach using gene editing for it.” And that’s kind of why I went in that
direction, and that’s one of the main funded projects in the lab.

00:22:39
Dr. Bruna Costa: We also have another project that it’s involving studies in the
Peripherin-2 or PRPH2 gene. And this project is kind of a continuation of my PhD
studies, as well. Last year, we published a paper where we could prove that one of the
mutations in a splice site position activates a cryptic splice site, which basically means
that it generates a misspliced transcript, which is not the normal one. So, in this project,
we’ve been expanding the study for other variants at the same position, and we predict
that these variants also activate the same splice site. And the cool thing in this project is
because we are trying to develop a hotspot strategy, we call hotspots, because our
main goal is to be able to treat all these different variants using one single Prime Editing
strategy, and that would expand the number of patients that we could potentially treat.

00:23:43
Dr. Kaylee Byers: So, Dr. Quinn and Dr. Costa are coming at this problem in two ways.
For inherited retinal diseases, there’s lots of variations in those genes, and some can be
serious for the vitreous. Okay, I just wanted to rhyme. But Dr. Quinn’s research is
looking at CRUMS-1, a particularly complex gene, to see whether Prime Editing could
be a better way to replace some of those disease-causing aspects with non-pathogenic
ones. And Dr. Costa is looking for genetic hotspots where different mutations create the
same issue, with the goal that developing one editing strategy could potentially cover
multiple variants. So, the hope is that one day, Prime Editing could give us a way to
correct the underlying genetic cause of these inherited retinal diseases, which might
stop or slow disease progression and preserve vision, which could also mean a lot less
uncertainty and anxiety for the future of our eyes. How much do you think Prime Editing
could change the outlook for people with inherited retinal diseases?

00:24:52

Dr. Peter Quinn: I think we all like to say the technology that we’re promoting is a game
changer, but I think it really is. This is technically a one-time treatment where we can
halt disease progression if we can catch people at the right period of time. And that’s the
caveat with all of the technologies is that we also have to identify patients pretty early,
right?

00:25:11
Dr. Kaylee Byers: Yeah.

00:25:11
Dr. Peter Quinn: We have to have them genetically diagnosed. We have to know
exactly what mutation they have to then go and develop this Prime Editing therapy. But
potentially with just like other gene editing methods like base editing, these can be one-
time therapies that then give a lasting treatment. And I think that’s amazing, and I really
hope that we can push that forward further.

00:25:32
Dr. Kaylee Byers: It does sound incredible. I mean, how long do you think it’ll be until
we’re seeing more of this Prime Editing treatment for inherited retinal diseases in patient
populations?

00:25:41
Dr. Bruna Costa: Everyone asks that question because it’s something that everyone
needs to…

00:25:45
Dr. Kaylee Byers: Right. When can I have it? When is it coming for me? Yeah, that’s
what we want to know.

00:25:51
Dr. Bruna Costa: And we always discuss that, and we are also anxious to see that
going to the clinic. And actually, this is what we’ve been working for. But I believe that
it’s not going to take long. And I say that because Prime Editing, it’s been already tested
and showed that Prime Editing can indeed correct human mutations. So, I guess the
next steps would be then prove that Prime Editing can be safely delivered to the eye
and efficiently correct the mutations that are causing the disease and mutimentally
stopping or slowing the disease progression. So, I guess if I could give you a number, I
would hope that in maybe five years we would be able, five to 10 years, I would say.

00:26:39

Dr. Peter Quinn: Yeah.

00:26:40
Dr. Kaylee Byers: Great. So, in Canada, it should only be 15 to 20.

00:26:44
Dr. Bruna Costa: I know. Yeah.

00:26:44
Dr. Kaylee Byers: I’ll just double that.

00:26:47
Dr. Bruna Costa: I know. I’m not sure if I’m being optimistic, but I would like to think
positively in that way.

00:26:54
Dr. Peter Quinn: Well, you have to think, right, Prime Editing was invented in 2019, and
in 2026, we have patients being treated with it. It’s actually a pretty short time to take a
thing from the lab and test it in a patient. So, I think that the main bottleneck for the
retinal field is delivery of these things to the eye, and I think many people are working
on this, and I think once that caveat is kind of solved, then we’ll see these things being
widely implemented. But I think one of the most important things I learned since I
started my journey in the field was meeting patients, and they just want to know that
someone is working on their hyper-rare disease, and that’s the case now. For CRB1,
when I was first working, maybe there was one or two groups. Now, there’s 10 more. So
I think that’s a great message.

00:27:39
Dr. Kaylee Byers: So, Prime Editing is unlocking treatments that weren’t possible even
just a few years ago, but as eye-opening as those advances are, getting from a
promising idea in the lab to an actual patient like Ty presents a whole slew of
challenges, especially when, as Dr. Turve mentioned, rare diseases aren’t actually that
rare. There are thousands of them, each with their own genetic twists and unique
treatment, and with a finite amount of resources, how do we decide where to put them?
So, what are some of the biggest barriers to bringing treatments like this into the
healthcare system?

00:28:13
Dr. Stuart Turvey: I think that’s a really important question. So, absolutely this
experience tells us that this therapy can work. Now, the challenge is making that

promise a reality for more and more patients across a healthcare system that’s strained
or constrained really everywhere in the world. And so, it’s moving from these individual
examples to becoming a more standard therapy. And so, for us as society, we have to
balance now rare diseases and at this scientific advance with all the other demands on
our healthcare system. And so, that’s, I think, a larger public conversation about how to
move forward.

00:28:57
Dr. Kaylee Byers: Yeah. I can see how it would get really complicated talking about
how many people are affected by this particular disease and have this shared mutation.
So, it seems to me just to be a very complex space that has a lot of really ethical and
emotional, and it’s like there’s also money. I see a web, just a million different ones that
go out everywhere.

00:29:22
Dr. Stuart Turvey: I think that’s why it’s important that we all kind of understand and
raising the awareness of our DNA and how we can edit it and this therapy, because it’s
possible now, it’s real, and we’ll have to balance those possibilities in a thoughtful
ethical framework, a health economic framework. And so, now it’s up to our friends and
partners and the community at large to have those bigger conversations.

00:29:52
Dr. Kaylee Byers: Yeah. And I think something that really comes through to me in this
conversation is this is a huge breakthrough, but it comes on decades and decades of
work and research that builds over time. And certainly in the last few years, it feels like
we’re moving more quickly with the development of these technologies. But what does
this treatment and the science that goes behind it, what does it tell us about the value of
investing in science?

00:30:17
Dr. Stuart Turvey: So, I think the CRISPR discovery was really kind of a very
fundamental piece about how bacteria defend themselves against infections. And then,
now we’re talking about using that knowledge to edit the human genome to cure
diseases. And so, I think what that says is we need to invest money in understanding
fundamental biology. We should invest in understanding how the world works. And I
think it’s a mistake for us to say, “We know how everything works. Now, we’re just going
to invest in how we translate that.” We need a framework that embraces that very
fundamental discovery, but moves us through to translation to clinical trials. And for me,
it’s a continuum, and I think it’s a mistake to choose any individual part of that. And this

is a great example of how a fundamental discovery now transforms the way we treat
patients here in British Columbia.

00:31:21
Dr. Kaylee Byers: Dr. Turvey, thank you so much for taking the time to come on today
and talk with us about this technology and this disease and how it is changing the world.
I really appreciate your time.

00:31:32
Dr. Stuart Turvey: It was my pleasure. Thank you for your interest.

00:31:35
Dr. Kaylee Byers: Prime Editing might sound like something out of a Transformers
movie or Star Trek.

00:31:41
Clip: Engage.

00:31:41
Dr. Kaylee Byers: But in a world where the future can sometimes feel a little murky,
stories like Ty’s are a pretty remarkable reminder of what science can make possible
and why there’s still plenty of reason to be hopeful.

00:31:55
Ty Sperle: My life has changed in a lot of ways. I don’t have to worry about infections. I
can go out in nature and play dirty in nature. I can just be a normal person now. The
main thing that I want people to know is if people have these rare diseases, they can be
cured, and there is hope for them. That’s sort of the main thing I want to get out there.
Science is changing rapidly, and these cures are coming out every day and that they
just need to have hope.

00:32:25
Dr. Kaylee Byers: Our guests for today were Dr. Peter Quinn, assistant professor of
ophthalmology and founder of the Prime Site Lab at the University of Pennsylvania; Dr.
Bruna Lopes da Costa, a postdoctoral scientist in the Prime Site Lab; Dr. Stuart Turve,
pediatric immunologist and Canada research chair in pediatric precision health. And of
course, a very special thanks to Ty Sperle.
You’ve been listening to Nice Genes, a podcast brought to you by Genome British
Columbia.

If you like this episode, go check out some of our previous ones wherever you listen
from. Share us with your friends, and leave us a review. You can also DM the show on
social media by going to @GenomeBC.
Be sure to tune in next time when we zoom into the world of AI and genomics. What
happens when technology can evolve faster than our ethics can keep up?

00:33:16
Dr. Mohammad Hosseini: Imagine AI is like a master key. It may open many doors,
but are you ready to see what is behind it?

00:33:22
Dr. Kaylee Byers: Thanks for listening. Feels like a prime time to say, “Goodbye.”