Latest / 'Bone Up' / BoneUP Live @ ASBMR 2026 - Part 1

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BoneUP Live @ ASBMR 2026 - Part 1 · 'Bone Up'

0:00
Hello, and welcome to Bone Up, the podcast all
0:04
about bones. I'm David Armstrong. Hi, and I'm
0:07
Richie Abel. And together, we're going to bring
0:10
you the latest in bone research. So whether you
0:13
are a patient living with bone disease, a family
0:15
member, a healthcare professional, or a scientist,
0:18
you've come to the right place. So if you want
0:20
to learn more about our infrastructure of calcified
0:24
collagen, this is Bone Up. Hello and welcome
0:52
to a very, very special episode of Bone Up Live
0:56
because for the first time we've crossed the
0:59
Atlantic and we're here at the ASBMR 2026 in
1:04
Boston, Massachusetts. We're really excited to
1:08
be here in Boston to bring you this live conference.
1:10
We were invited here by Dr. Judy Keen, the chief
1:13
executive of ASBMR, and Professor Emma Duncan,
1:16
the president of ASBMR, because they heard our
1:19
lovely ECTS episodes and they thought it would
1:21
be nice if we could come here and help share
1:23
the conference with the people who aren't able
1:25
to make it. Hopefully we're going to be able
1:27
to talk to some PhD students and post -docs who
1:30
are taking part in their first research projects.
1:32
We can speak to some mid -career researchers
1:35
who are leading a lab for the first time. time
1:36
in developing their research vision and we'll
1:38
also try and talk to some of the professors at
1:40
the conference try and get their take on bone
1:42
research and what's going on in the world and
1:45
this year hopefully we're also going to be able
1:47
to talk to some of the people who are bringing
1:48
new technologies into clinical practice they're
1:51
going to improve diagnostics that are going to
1:53
improve screening and also new treatments so
1:56
join us I think we're going to have a really
1:58
good lineup for you. We've already had a look
2:01
at the programme, had a look at the posters and
2:04
certainly I think this is a great opportunity
2:06
to bring clinicians and scientists and patients
2:09
together and you can judge how successful we
2:13
have been at bringing you a flavour of the conference.
2:22
Listeners, we're here at ASBMR and we're here
2:24
with a really excellent guest today. We've got
2:26
Professor Christopher Hernandez from the University
2:28
of California, San Francisco. Welcome to the
2:30
show. Thanks for having me. We're delighted to
2:33
have you on the show today. I saw your talk yesterday
2:36
about the relationship between the microbiome
2:38
and bone health, and I'm sure this is something
2:40
our listeners are going to be really keen to
2:41
hear about. Could you tell us what you told the
2:44
audience yesterday? Yeah, so over the last 10
2:47
years we've done a series of studies, and these
2:49
are studies done in mice, trying to understand
2:52
how the gut microbiome might be influencing bone.
2:55
And the number one thing we have observed is
2:58
that changes in the gut microbiome can influence
3:01
the material properties of the bone matrix itself.
3:04
So in our studies, we manipulate the microbiome
3:08
in the mouse and we don't see a change in how
3:10
big the bone is or how dense the bone is, but
3:13
we see an effect on the mechanical properties
3:15
of the bone matrix itself. And what kind of experiments
3:19
did you do in the mice? Yesterday, you spoke
3:21
about the very first experiment you did where
3:23
you gave the mice antibiotics. Why did you give
3:26
them antibiotics? Well the antibiotics we give
3:31
are used to change the composition of the gut
3:33
microbiome. So the inside our guts there's about
3:37
a thousand different microbial species all at
3:40
different abundances and they interact with each
3:41
other and then they also interact with the host
3:44
and then can have effects on our health. all
3:47
across the body. There are some people who will
3:52
do experiments where they knock out the entire
3:54
gut microbiome, but I think that's pretty extreme.
3:57
It's a nice experimental model. So instead we
4:00
gave two narrow spectrum antibiotics in the drinking
4:03
water of the mice and that changes the composition
4:06
of the gut microbiome. So there's still microbes
4:08
there, still approximately the same number of
4:10
microbes, it's just a different population is
4:13
there. And what we found is that different population
4:15
is then having an effect on the bone matrix.
4:18
And my patients will immediately be interested
4:21
when you say that because obviously lots of people
4:23
with osteoporosis are prescribed antibiotics.
4:27
Are you suggesting that there can be long -term
4:29
changes in the bacteria living in their gut after
4:34
a single course of antibiotics and that that
4:35
could have potentially long -term consequences
4:38
for their bone? Yes, so the microbiome community
4:41
has studied this in great detail. So for the
4:43
most part, if you take a course of oral antibiotics,
4:46
like a week or so, your microbiome will normally
4:49
go back to normal, will come back to normal within
4:52
weeks to months afterwards. And so it's not really
4:56
a concern for most of us. In this case, the antibiotics
4:59
we give our mice, it's pretty extreme change.
5:02
They're not the antibiotics we use to treat an
5:05
infection because we choose antibiotics that
5:07
aren't absorbed in the gut lining. So then we
5:10
don't have to worry about the antibiotic itself
5:13
having an effect on bone cells. We just see the
5:16
effect of that change in the microbes and what
5:19
that does downstream to the bone. So that's reassuring
5:22
at one level. Presumably, but different humans
5:25
have different types of microbiome, because that's
5:28
why you're interested in this, to see how different
5:30
people, this would affect them differently, isn't
5:32
that right? Yes, exactly, and so we all have
5:35
a slightly different microbiome. The thing about
5:38
the gut microbiome is it's formed when we're
5:41
young, and it mostly is formed by the time three
5:44
or four years of age, and then it stays mostly
5:47
the same through the rest of your life, but it
5:50
is editable. And so if you change your diet drastically,
5:54
you can change the composition of your gut microbiome
5:56
over short or even long time periods. And you
6:00
did that editing in another one of your experiments
6:02
where you took the gut microbiome from older
6:06
mice and gave it to younger mice. What did you
6:09
find there? Yeah, so that's a study that we're
6:12
presenting tomorrow at the ASB Mar. And we did
6:15
what's called a fecal microbiota transplant.
6:18
and this is used clinically for patients who
6:20
have a C. difficile infection where you can take
6:24
the microbiota from one person and give it to
6:27
another. Yes, it is a transfer of the feces,
6:30
right? So it doesn't sound very pleasant, but
6:33
if you have one of these infections with C. difficile,
6:36
it's life -saving because what happens is the...
6:40
microbial community that gets donated, then out
6:43
competes the C. difficile. So normally you have
6:46
a C. difficile infection. You use antibiotics
6:48
and try and get rid of it. And that sometimes
6:52
doesn't work. Instead, you put in a community
6:54
of microbes that are benign, but they eat all
6:58
the food that the C. difficile would eat. And
7:00
then the C. difficile goes down and it's not
7:02
present. And while having a C. difficile infection
7:05
can be a nasty thing in itself in terms of general
7:07
health, it potentially can be have per consequences
7:11
for bones as well? You know, I don't know if
7:14
the C. difficile infection has an effect on bone.
7:16
I can't give you a good answer on that one. Come
7:18
back next year and we'll hear what work you've
7:20
done on that. But there's another application
7:25
of the fecal microbiota transplant that's really
7:27
exciting. Researchers at MD Anderson and in Israel
7:31
have shown that when patients undergo immunotherapy
7:35
for cancer, for myeloma cancer, there are some
7:39
patients who don't respond to the immunotherapy.
7:41
And they've shown that if they give those patients
7:44
a fecal microbiota transplant from a patient
7:47
who did respond to the immunotherapy, suddenly
7:50
those patients start responding to the immunotherapy.
7:53
So the power of the gut microbiome to really
7:56
influence your health is there. It's like a gateway
7:59
into the immune system in the body, isn't it?
8:02
Yeah, it regulates the immune system. There are
8:05
metabolites that are released by the gut microbes
8:07
that get into the bloodstream that can influence
8:09
the body, beneficially or potentially detrimentally.
8:13
I mean, I get the impression as a clinician that
8:16
we're still quite early on in the microbiome
8:19
and understanding it, and lots of patients will
8:21
come to me and say, how can I change my diet?
8:24
That's what they're most interested in almost,
8:26
how can I change my diet? And we're not that
8:28
good at really giving convincing advice tailored
8:31
to that individual patient yet. Presumably we're
8:34
quite in the shallow waters here, but there's
8:37
potential going forward that we could be able
8:39
to give much more detailed advice and maybe advice
8:41
about how to change your gut microbiota specifically
8:45
for your bone health or for other types of health.
8:48
Exactly, and that's where the microbiome community
8:50
is really focused. They'd really like to have
8:52
treatments for people. They'd like to have something
8:54
you can give people. Now there are people who
8:57
develop, back to this fecal microbiota transplant
9:00
idea, they have capsules. of the fecal microbiotic
9:05
transplant. If you're eating your breakfast,
9:06
listeners, we should have warned you about this,
9:09
but go ahead, Chris. So that's one of the strategies
9:13
people are working on. There are groups that
9:15
are working on very specific microbial cocktails
9:19
so that they know exactly what's in there. Right
9:21
now, it's a person -to -person donation. You
9:23
have to screen the donation to make sure there
9:26
isn't something infectious there. But that's
9:30
the strategy. Now, when you get to the patient
9:31
diet, We'll talk about the patient diet. I wish
9:34
I could give better information, but the best
9:37
information we have now is to eat more fiber.
9:41
It's always exciting when you see your interest
9:43
and get all this exciting science and then the
9:46
bottom line is eat more fruit and veg, which
9:48
is what we've been telling people for a hundred
9:50
years. But no, this is important because as you
9:53
know, one of the reasons we do this podcast is
9:56
to help give people information so they can distinguish
9:59
between real science and people just... you know,
10:01
maybe taking advantage of pseudoscience, so it's
10:04
really important that we have people like you
10:06
telling us the real science and where the limits
10:09
are to that. Yeah, and I know, I spoke to one
10:11
person and they had their microbiota sequenced
10:14
and they had all this data and it came out and
10:17
they're like, can you help me interpret this?
10:20
And I said, I have no idea what all this means,
10:22
because we still don't really know what microbial
10:25
species are really going to be beneficial on.
10:26
We have some inklings, but... but couldn't really
10:29
tell you what it means in that data set if your
10:31
microbiome is healthy. And in terms of just bone
10:34
and bone health and bone development, we do think
10:36
a lot about younger people and how you see your
10:42
microbiota is set maybe when you're age three
10:44
or four. And that's to do with bone development
10:47
and achieving peak bone mass and bone health.
10:50
But there is the potential to change things,
10:52
I think, from what you're saying, even if you're
10:54
older. Yes, there is. If you change your diet
10:57
drastically, there are some studies where people
11:00
will just travel to another country and then
11:02
the diet is totally different and they've tracked
11:04
their gut microbiome, it totally completely changes
11:07
based on the diet that they're eating there.
11:09
So even if you're age 60 or 70, you can potentially
11:12
completely change your gut microbiome. You can
11:15
change it. For good or for worse, potentially.
11:17
You can change it. Usually it requires a very
11:19
sustained change in diet, so a continuous change
11:22
in it. So that increase in fiber, for example,
11:24
and you've got to keep doing it, keep doing it.
11:26
It's not like you can do it for a couple of weeks
11:28
and then everything's going to be bad because
11:30
then you stop with that fiber diet and everything
11:32
goes back to the way it was before. Can you tell
11:33
us specifically how changing your gut microbiome
11:36
would actually affect the bones? You know, how
11:38
do you build more bone? How do you build healthier
11:40
bone by changing? What do the bacteria do? So
11:44
there are two mechanisms that I've been focused
11:47
on so far. One, I haven't done this, but the
11:52
gut microbes will then influence the immune system
11:54
in the body. And so these microbes at the lining
11:58
of the gut, they're in contact with host immune
12:00
cells. And then those immune cells will either
12:03
release cytokines or they can also migrate to
12:07
the bone where they can influence bone remodeling
12:10
and several other groups have shown this. The
12:13
mechanism we're interested in are the molecules
12:17
that are released by gut microbes that end up
12:19
getting into the bloodstream. So I didn't know
12:22
this before I started, but every day there are
12:24
microbial molecules floating around in our bloodstream.
12:27
Not so many live bacteria, but there's little
12:29
bits and pieces of dead bacteria or these metabolites.
12:34
And many of these metabolites can have effects
12:37
on the human body. The most studied are the short
12:39
-chain fatty acids, which is a class of molecule.
12:43
Butyrate is one of the most famous of them, and
12:46
that's considered a beneficial molecule. And
12:49
so when we talk about manipulating the microbiome,
12:51
we often think about manipulations that will
12:53
increase the production of short -chain fatty
12:56
acids in the gut because then those short -chain
12:59
fatty acids are good at the gut lining. They
13:01
also get into the bloodstream and can have beneficial
13:03
effects throughout the body. Okay. And there
13:06
was a second mechanism you were going to tell
13:08
me about? The second mechanism metabolites. So
13:10
immune regulation and metabolites. Well, that's
13:13
very clear there. Yeah. Thank you very much.
13:16
That was beautifully explained. I think our listeners
13:17
are really going to enjoy it and listeners you
13:19
heard it here first. Transpoosian. Thank you
13:24
very much for joining us Chris. Thank you so
13:25
much for having me. That's great. Thank you.
13:36
Thanks. Listeners, we're delighted to introduce
13:38
our next guest, Marie Eva Pickering, a consultant
13:41
in rheumatology from the University Hospital
13:44
Clermont -Ferron. Welcome to the show. Thanks
13:46
for joining us. Thank you very much. I'm very
13:48
happy to be with you today. Are you enjoying
13:49
your time in Boston? Yes, I arrived yesterday
13:52
actually. It's really a beautiful city and I'm
13:54
very happy to be here. It is a really nice city
13:57
and, listeners, you've got fantastic weather
13:58
here. It's kind of a beautiful autumn day. Yes,
14:01
it is, it is. And you work as a rheumatologist
14:04
in France, but we're particularly interested
14:06
to hear about work you've done in bone dysplasia.
14:09
Yes. So tell us a little bit about what you've
14:11
been doing and what you're talking about here.
14:13
Yes, sure. So, fibrosis dysplasia is quite a
14:16
rare disease, a rare bone disease, but it affects
14:19
people from childhood to adult people. and it
14:23
really has an important burden on life and quality
14:27
of life. One of the main effects of this pathology
14:30
is the pain and it's very interesting to see
14:33
that finally the pain differs in people and it's
14:37
not because you've got many bones that are affected
14:39
that you have more pain and that's why research
14:43
now is really focused on trying to discover and
14:47
understand all the pathways and the dynamics
14:50
of pain mechanisms in this pathology. So in Clermont
14:56
-Ferrand we started a study on people with FD
15:00
and the objective was really to try to phenotype
15:04
pain in this population. So we tried to understand
15:09
the pain mechanisms and most of all one of the
15:14
important things is what we call the descending
15:17
pathways and the way that people manage to cope
15:20
with pain throughout their lives. What we found
15:24
is that finally while people with FD have what
15:29
we call a mixed pain that is both nociceptive
15:33
pain, which is the most typical pain that you
15:35
find in bone diseases. It's also the type of
15:38
pain that you find, for example, when you got
15:41
a fracture or something like that. But they also
15:43
have two other types of pain, neuropathic pain,
15:47
which is currently under -diagnosed and therefore
15:50
under -treated, and also what we call nociplastic
15:53
pain, which is a very specific type of pain characterized
15:58
by central sensibilisation. That means that under
16:04
the years with this burden of the pathology,
16:07
people will finally have pathways that will be
16:12
a bit, well, abnormally regulated. And they have
16:18
what we call central sensibilisation, which is
16:22
really something quite new. So we'll try to...
16:24
export all these these findings to a bigger population
16:27
and we'll start a new study in France in all
16:31
the centers of FD in France to try to understand
16:34
that a bit better. So these different types of
16:37
pain then so there's three different types of
16:39
pain people with this fibrous dysplasia have
16:42
and this it's a condition of bone that the bone
16:45
formation is as abnormal and the bone becomes
16:48
sort of deformed isn't that right? Yes in FD
16:50
well you've got the bone features that are the
16:53
most common things because it's what often people
16:56
feel at the beginning but there are also lots
16:59
of other things including endocrine pathologies
17:03
for example or skin pathologies but the main
17:06
thing is the bone and we're really thinking that
17:07
finally the bone is the main regulator in the
17:10
pain of these patients. A third type of pain
17:13
you were talking about does that mean that if
17:14
we've somehow fixed the bone or made the bone
17:18
better that looked a different shape that wouldn't
17:20
necessarily make the pain go away? the way of
17:24
thinking about this? Yeah well it's quite a very
17:26
interesting question because finally what we
17:29
hope is that by identifying these different subtypes
17:34
of pain we will not only treat pain like we do
17:38
usually with NSAIDs or bone targeted therapies
17:41
but also play on all another world of pain as
17:47
well the mental health and all that the quality
17:50
of life and also on the neuropathic pain analgesics,
17:55
you know specific pain treatments and that's
17:58
really something to do. And why is this work
18:00
important? What kind of effect does the pain
18:03
have on people's lives? Well the pain in FD and
18:08
also in quite a lot of bone pathologies but in
18:10
people with FD is really one of the most important
18:14
things that give the burden of the pathology.
18:17
because people stop working because of pain and
18:20
also it affects their their their living know
18:22
their quality of lives and Well, if we just diagnose
18:27
it a bit better probably they would live better
18:29
with it, too And how do you recruit people into
18:32
your studies? Do you have patient involvement
18:34
groups? Do you work with your patients? Yes,
18:37
well as it's a rare disease What's quite nice
18:41
is that there is a bit like here, the Allianz.
18:45
There is a centre in France. It's regrouped.
18:49
In fact, people, when they are diagnosed, they
18:51
are automatically registrated in these big centres.
18:56
So there are main centres in Paris or Lyon and
19:00
also other centres of competence. There are,
19:03
well, on all of France, in fact. Well, yeah,
19:08
we've got all the lists of the patients that
19:10
are treated and followed up in our lab. Do you
19:13
think doctors are good at dealing with pain or
19:16
do doctors like you and me prefer looking at
19:18
blood test results and x -rays and things that
19:21
we can quantify easily, but once the patient
19:24
talks about pain, well then that makes us feel
19:26
more uncomfortable, is that true? Completely,
19:28
yeah, yeah, completely. often we feel a bit,
19:31
we don't manage to relieve that pain and it's
19:35
really difficult. Yeah, we feel a bit useless.
19:36
Yeah, completely. I didn't manage to say that.
19:37
Yeah, no, no, I think that's right. When you
19:39
were saying at the start you're phenotyping the
19:41
pain, what you mean is, because I realize not
19:43
all our listeners will know what that means,
19:45
so you're just dividing it up and you're actually
19:47
saying to people, well, how does this pain affect
19:49
you? Exactly. And try to actually categorize
19:51
pain into different sorts of pain, so that because
19:54
the way our doctors' minds work, we like to categorize
19:56
things and it actually helps us then hopefully.
19:59
to help the patient better? Yes, and there are
20:01
some specific questioners in function of what
20:04
type of pain it is. When I talked about non -susceptive
20:07
pain, it's more like the pain you have when you
20:10
have a fracture, for example, where you fall
20:13
down. The neuropathic pain is more like when
20:18
you feel as if you were burned or very painful.
20:22
cold sensations or things like that. And the
20:25
nociplastic pain is really something very difficult
20:27
because it's something that finally no one sees.
20:31
It's a sort of central pain in the brain. So
20:33
the first one is if you... bang your finger with
20:35
a hammer, your finger's sore. The second one
20:37
is that neuropathic deep burning pain. And then
20:40
the third one is this sort of central pain, which
20:42
is so hard for us to deal with and for patients
20:45
to deal with. And probably participates grandly
20:49
in the chronicizing pain in these patients. And
20:51
even though you're just looking at this very
20:53
rare bone disease called fibrous dysplasia, presumably
20:56
this sort of phenotyping pain is applicable to
20:59
all sorts of pain, I imagine. quite something
21:03
that is well known now in other diseases, more
21:06
in inflammatory diseases for example. But yes,
21:09
it's something that you can probably do in quite
21:13
a lot of pathologies including bone. So relevant
21:17
to lots of bone research then? Yes, totally.
21:20
And clinical care? Yes, of course. Yes, because
21:22
of course if we manage to diagnose these different
21:26
types of pains, we'll probably help people to
21:30
live better with it now. Why does bone pain have
21:33
so many manifestations? Why is there such a wide
21:36
variety of pain types associated with bone? That's
21:40
a very difficult question because actually we
21:42
didn't at the beginning we didn't think that
21:45
there were so many different types of pain related
21:48
to bone pain and usually what we do is just consider
21:52
the non -susceptive part of it because it's what
21:55
we know how to heal finally you know but well
22:00
Probably bone has it's an endocrine organ. So
22:03
it's got lots of impacts on many many structures
22:07
and Pain is part of it Yeah, it's much more connected
22:12
to the neurological system than we think isn't
22:15
it? That's interesting Lovely. Thank you very
22:18
much for talking to us today. It's been a pleasure.
22:19
Thank you. Thank you Listeners, we're really
22:28
delighted to bring you our first Early Career
22:30
Researcher for ASBMR 2026. We have PhD student
22:35
Melissa Chuevas from CU Anschutz in Colorado.
22:39
Welcome to the show. Thank you. And thank you
22:41
for your help in just sorting out our podcast
22:43
as well. Yes, of course. My pleasure. So we saw
22:47
your poster yesterday, which was really good.
22:50
Could you tell us a little bit about the research
22:51
that you've been presenting here at ASBMR? Yes,
22:54
yes. So I study adolescent idiopathic scoliosis.
22:59
It is a spinal deformity that happens in children,
23:05
particularly when they're in the growth spurt
23:07
age. And so basically what happens is they're
23:10
born, they look fine. their back is straight,
23:13
their back is fine. And then during the growth
23:15
spurt, it starts curving and rotating. We don't
23:19
know why that happens because they're otherwise
23:21
healthy, no other problems with them. And sometimes
23:24
it continues on to affect a lot of internal organs
23:28
down the road. Once that curve starts, it doesn't
23:34
reverse. So they're affected potentially for
23:37
life. We are trying to figure out who progresses
23:41
to get worse curves and who doesn't because it
23:46
affects the treatment plan a lot and right now
23:48
that big unknown of who is going to progress
23:51
or not is really the big question for a clinic.
23:54
And it often comes on in sort of late childhood
23:56
or teenage years? Yeah, yeah, usually like whenever
23:58
the growth spurt starts to like we start seeing
24:01
people in clinic like at like 11. 12 something
24:05
like that and so if they have like a 40 degree
24:08
curve by cob angle then usually like they start
24:10
talking about surgical correction and then before
24:14
that when they're milder like they would talk
24:17
to brace bracing therapy and the bracing therapy
24:21
is like up to 20 hours so if you're wearing this
24:24
pretty constraining brace so like hate to subject
24:28
people to that if not necessary but sometimes
24:31
it fails and so there is like all of these questions
24:33
about the molecular biology on curve. At the
24:38
minute it's hard to predict because the patient
24:40
turns up they're very worried parents with them
24:42
often they're sometimes seeing a surgeon and
24:45
and it's hard to say who needs treatment who
24:47
doesn't need treatment what's the best treatment
24:49
for them and often delaying treatment until growth
24:52
has has finished. Exactly. So what specifically
24:54
were you looking at then that helps patients
24:57
and their parents and doctors understand how
25:02
to treat people better? What were you looking
25:03
at? Yeah, so basically we think that there is
25:07
a familial component to this, like there's some
25:10
genetics happening. We haven't been able to find
25:13
a clear definitive pattern. Not one single gene
25:18
we've discovered yet. exome sequencing and so
25:24
that's like sequencing of the DNA region that
25:26
makes proteins. We did that in families that's
25:31
multi -generational and some of that data had
25:33
pointed to potentially cell signaling problems
25:37
in these people and so what I presented at ASBMR
25:41
today is we specifically looked at one protein
25:44
called Kif7 which is responsible for this organ
25:49
cilia, which is essentially just the antenna
25:51
of the cell and like it's responsible for the
25:55
regulation of how long that antenna is. We found
26:00
three different mutations in these idiopathic
26:06
scoliosis cases and so I modeled that in a cell
26:10
line and found some interesting stuff like there's
26:14
increased inflammation. with the mutations and
26:20
then also like if I take out that protein in
26:22
the cell it's worse and so but but in these all
26:26
these mutations it's not it's not like a complete
26:29
loss of function which I thought was interesting
26:31
so that was that was what I presented. So you
26:34
looked at families where they seem to run on
26:37
families a bit and you looked in the area of
26:39
the of the genes that were responsible producing
26:43
proteins for this condition and there's one particular
26:46
gene called, is it KIF? You said KIF, so you
26:49
want to look this up, it's KIF7. Yes. And you
26:52
find then abnormality in that particular... Yes.
26:57
And you mentioned several different types of
26:59
abnormality. Yeah, so what happens with when
27:03
I model this in cell, like the cilia, which is
27:06
that antenna on the cell, that KIF7 regulates,
27:11
it's longer. in the cells that have the mutation
27:17
of the people. Yeah, okay, so the gene abnormality
27:20
causes a different size of a thing called a cilia,
27:23
which is in the surface of a cell, which influences
27:27
how bones grow? Yeah, we think so. It is present
27:31
in every cell, but we think maybe in scoliosis
27:34
it affects signaling. And were you able to link
27:37
a difference in the gene with how it appeared
27:40
and how it affected the patient could you predict
27:43
from which abnormality they had in the gene how
27:46
it affected them or perhaps how we should intervene
27:49
or when they should have their surgery? Yeah
27:51
so interestingly like in all of these scoliosis
27:55
patients like the curves size is not the same
27:57
the curve pattern is not always the same and
28:00
like just even in this one specific gene like
28:03
three different mutations, like they don't, even
28:05
though it's around the same area, like they don't
28:08
behave the same way. So I think this is like
28:11
clues to the puzzle. So longer term then, how
28:15
do you think it might benefit the scoliosis patients?
28:19
Would you, for example, think about looking at
28:21
the genes? Would you think about looking at the
28:22
proteins the genes produce? Or would you try
28:25
and look at the cilia and see how long they are?
28:28
Yeah, so I think in this work, we zoned in on
28:31
one pathway and one gene. But I think there's
28:34
potentially many, many components to scoliosis.
28:38
And so we're thinking that we would go back to
28:42
the exome sequencing data, because there's still
28:44
quite a bit there. And look at just how it's
28:50
associated with the family data. We have also
28:53
a... linkage analysis data that will hopefully
28:57
like narrow down spaces in the genome that is
29:02
inherited like segregating with the phenotype
29:05
and see if there's any more additional clues
29:09
there just like a little bit more broad broadly
29:13
and also we have a biobank where we collect surgical
29:19
discard tissue from patients who have undergone
29:21
the corrective surgery, the posterior spinal
29:24
fusion. And so we could also do transcriptomic
29:29
profiling of their facet joints that we get.
29:33
And so I think that is where we're trying to
29:36
find it. So there's lots of potential things
29:37
to do now, because the best sort of research
29:39
is the one that asks more questions than it answers,
29:42
isn't it? Yeah, it's true. That was lovely. Thank
29:45
you for talking to us today and good luck in
29:47
all your future research. All right, thank you.
29:49
Thanks very much, Melissa. It's great. We hope
29:52
you enjoyed this listeners episode. We've got
29:54
a lot more interviews to come, so tune in for
29:57
the next part. We'll get it to you as soon as
29:59
we can. We'll see you then.