Live FB Q&A Session #1: International Angelman Day
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Hello! Hi everyone. my name is Anna and we are the
administration team behind A-BOM,
which is Angelman Biomarkers and Outcome Measures Alliance.
We're excited to be celebrating
International Angelman Day with you
by having this live Q&A session.
We're hoping this will be the first of many.
In the following months,
we'll be here to answer any lingering questions
And just to discuss the blogs that we have posted
and will be posting.
So yeah, any questions you have-
it's pretty easy, it's just like a normal Facebook post.
If you have any questions, just hit the
write a comment button and we'll answer the questions
as we're going along.
So, we're going to introduce ourselves.
Again, my name is Anna Arata
and I do the administration for A-BOM.
And I do, mostly, the social media
so I help with the Twitter and Facebook
and everything else.
Barbara: And I'm Barbara
I'm a graduate student in the
Neuroscience program at Vanderbilt
And I know Terry Jo through that avenue.
And I work with the reports section
of the website to get current research
that is ongoing in Angelman research
to the general public. So the goal is to
basically summarize those articles
with a focus on outcome measures and biomarkers.
And to, um, basically be an avenue for
families to be able to look at these studies
that are going on and for them to
understand what kind of research is going on
and to also be a place for people, where they can
ask questions and then we can talk to them about the
research and anything that's confusing.
And so, what I would really like to do is
more students and Post-Docs
and people in the Angelman community involved
to help us summarize these reports
and also link with other foundations
and be just a place for collaboration and communication.
Terry Jo: Thank you.
I'm Terry Jo Bichell and
I've been working in the
Angelman field for a really long time
and I'm so excited right now
that we have so many new treatments
and so many new drugs -
all of them about to come to clinical trial.
And, it's just a totally new world.
My son with Angelman Syndrome is almost 18
and I think even, you know, 5 years ago
it might have been hard to imagine
that we would have this many options
about to go to clinical trial!
So, this is why we got the
A-BOM started.
It came about because of the foundations -
the Foundation for Angelman Syndrome Therapeutics (FAST)
and a company, Agilis Biotherapeutics -
invited a lot of researchers
and people from the Angelman Syndrome Foundation
and people from other corporations
and they invited us to a meeting in Florida last March
And really said,
"We need to cooperate
and fast-track a way to make sure that
drugs are working in Angelman Syndrome.
So, we have to form this new,
kind of a group that will
combine all those different people who
need these to have answers
to whether these drugs are going to work or not."
And so, combining all those groups,
we formed the A-BOM Alliance
and I'm the new acting director
of the A-BOM Alliance.
And I'm really, really excited about it.
Anna: Very cool. Nice. Terry Jo: And these are-
This is our team and we're
working really hard on this.
Trying to get all of the members of the alliance
to be able to share
and also get families on board
and get families to be able to get involved.
Anna: Great. And so, I know you keep
brushing on the fact that we're an alliance.
And so, could you explain that a little further?
How does it differ from like a foundation or
a non-profit or something? Why is it an alliance?
Terry Jo: That is a really good question because
we are not another foundation,
we are not another non-profit,
we are not soliciting donations.
We want you to donate to the foundation
of your choice
that has to do with Angelman Syndrome,
especially today on International Angelman Day.
The three foundations we've been
working with the most are
FAST, ASF, and FAST Australia.
And so, we hope you donate to them.
But we are-
What we are is kind of-
it's hard to explain an alliance because really,
what we are is just a group of people
who are saying we want to work together.
And so, we are not collecting dues,
we are just, um, having meetings.
And what these meetings do is
they help corporations
figure out the best place to put their money
for figuring out which are the
best studies to do.
And they help the foundations figure out
what they need to focus on to be able to
get the drugs to clinical trials.
And then we have all these researchers
who are really already working
in the Angelman field, but
maybe they don't work on
biomarkers and outcome measures.
So now we can try to get them involved
and get them working on
biomarkers and outcome measures.
Anna: Nice. And speaking of
biomarkers and outcome measures,
can you explain a little more about
what they are?
Terry Jo: Okay, maybe, I don't know
can you just say about that?
So, yeah. We've been talking a lot about this
and how to explain in a way
that's really easy to understand because
it can be really confusing.
So when people do scientific studies,
what they want to do is be able to track progress.
And there are two ways that you can do this.
You can do this with biomarkers, which are more,
I guess you can say they are more
of like an objective measure,
where it is something really concrete like
blood tests, or like an EEG,
where you have- you know you do the test
and you have something that is very cut and dry -
this is exactly what
these are - and it's very easy to measure.
Whereas outcome measures are
a little bit more subjective.
And it's more like, I guess you can think of it more
like symptoms? Is that a good way to say it?
Where like, um, you have a certain behavior, for example,
or maybe a test that would be
you know, looking at cognitive type tests,
are sometimes outcome measures.
But basically, it's a way
to also track progress.
So you would look at the biomarkers
at the beginning of a test and you would be
tracking that throughout,
and where that would be something
blood tests that's more physiological,
outcome measures might be more
behavioral or symptomatic,
where you can say, "Okay this is how they performed
on this given test at the beginning."
And after so many treatments or therapies,
you can say that "Okay, throughout
after two weeks this is now where they're at." and then
four weeks and so on and so forth.
So, it's just two ways of tracking progress for
a given drug or
some kind of therapy that might be helping
with Angelman Syndrome, in this case.
Terry Jo: I think, maybe, a little bit more also
is to explain about it, is that, um,
biomarkers are kind of invisible to
families, so it might be a blood test or a
EEG pattern, or a
urine sample, something like that.
But, the outcome measures might be
something more that the families
might really notice, like
sleeping patterns, or aggressive behavior,
or constipation, things like that. So,
it's important to do both.
It's important to have biomarkers.
Those are things that there's
no way that it can be
subjective, you just take a blood test
and measure it.
And it's important to have
the things like,
is the behavior getting better,
is the sleeping getting better,
do you feel less stress?
I mean, those are outcome measures that might
matter more to families, too.
Anna: Yeah, it really involves the families a lot more.
So, why are these important now? Like,
what is the importance of them right now?
Terry Jo: Okay.
Right now is really crucial.
So, you all may have seen
this announcement just-
I think it was just a few days ago,
that there's a new,
um, gene therapy group that's
getting involved in Angelman work
from the University of Pennsylvania - that makes
three gene therapy teams
right now that are gonna work on
Angelman Syndrome.
So, let's say that
one of the does do the gene therapy
and they do turn on
the UBE3 gene, -
so now the UBE gene is working -
so that means maybe
now our children's neurons are
gonna start working better.
Well, how do we know
that they're working better? I mean,
It's gonna take a while for those neurons
to connect to each other,
for all the experiences that the kid has
to start to make the neurons connect to each other.
So, it's not gonna be instant
that we might be to see a big difference
in the behavior of the child.
But, we might be able to tell well,
is something working?
If we can see something in the blood test where
the UBE3a protein goes up,
I mean, that might- or even in the cerebral spinal fluid-
that might be a way that we know that
the gene therapy is working, even if
we can't tell right away that the child can communicate better.
So, that would be a case where we would need
a biomarker.
So, these-
all these drugs are about to come to trial.
And so, we have to have ways
to figure out whether
they're working.
And so right now, it's
super crucial for families and,
um, researchers to get together and do some
little studies, small studies
to try to figure out if some of these things can work.
Anna: Yeah, so how can the families
really be involved in this? Like,
are there places to sign up or anything?
Terry Jo: Okay. Good question.
So,
one thing is to make sure you
are members of your foundations,
'cause the foundations keep lists and they will
send out information whenever there's a new study.
But the other thing is to please
get on the Global Registry,
the Global Angelman Registry,
that has been organized by FAST Australia
that- it's not quick, it takes
a while, but you can stop and start it, it asks
a lot of questions.
But that is a really good way to get
a bunch of information about your child
already on record
and something that can be shared with researchers.
So, those are the three best-
the best things you can do.
Join your foundation, which
doesn't cost any money- you just
give them your name and address,
your email and they can get ahold of you.
And then, go to the Global Angelman Registry.
Can we put a link to that? Anna: Yes,
I was gonna say- we posted
a link to that, but we can always do it again
um, to the FAST Australia site-
it should be towards the bottom
of, probably, this post-
I think it was probably 3 posts ago.
So,
feel free to check that out, it's already on there.
Terry Jo: And then, I guess, can we
put a link to the foundations, too?
Anna: Oh yeah, definitely.
We will put a link to all the foundations so
you can sign up that way as well.
Terry Jo: And you- I talk about the foundations in
the United States, but this
is gonna go global
and so, we want you to get involved in
your foundations in South America,
in Europe, in Asia - all over. So,
we're trying to build up our website,
and put links to all those foundations.
Anna: Yeah, so those will be available...
pretty soon.
Terry Jo: So, what about, um,
what do you think, Barbara, is
the best way for us to
tell families about new science?
Barbara: I think, um, so what we're going to do is
take articles as they get published, and then
also do back-log for articles
that have already been published,
and summarize them so that families can
see what's happening now, what's actually
being published currently.
We can also- I don't know
what else- I guess that more
what I was thinking, but we can also just put general
questions up there- Terry Jo: Yeah, true!
or general explanations of what's going on. Terry Jo: People could just-
ask questions. Barbara: Yeah, also- yeah, people could just ask questions
and we can figure out the answers and
do some research and answer them, yeah.
Terry Jo: So actually, we could do- Barbara: Whatever's needed
we can try to do for that.
Terry Jo- and we can do- this is our first live Facebook,
which we're gonna stop in about one minute. But,
we managed to get through our ten minutes.
And so
if we come up with a lot of questions,
we could, overtime, we could
save them up and do another live Facebook,
or we could do a live Facebook, like,
once a month, or every couple weeks or something,
to try to keep- Barbara: Yeah, whatever's needed.
We can, kind of, see what happens.
Anna: Yeah, yeah. Feel free to, um,
if you have any comments or anything,
you can always comment now, or
or you can comment later on and tell us
what you'd like to hear from us.
So if it is, like, a weekly Q&A session,
or if monthly will suffice,
just, yeah, we'd love to hear your feedback.
So once again, this is Anna - I'm looking at that -
This is Anna, this is Barbara,
and I'm Terry Jo
and, um, we will love to be in touch with you
and I hope you're having a great day today, and
we should sign off.
Anna: Yeah, alright. Thanks for watching!
Terry Jo: Bye everybody!