His son was born with a
genetic disorder called NF1.
It's a common disease that
affects one in every 3,000
people, yet, there's no cure.
It's kind of like a closet disease.
Where these children and adults that
are afflicted with NF1,
they can have tumors
that grow anywhere on their body.
There are over 4,000 different mutations.
We can't do clinical
trials, because there aren't
enough people like that
particular child to even study
drugs.
So they're trying a
controversial experiment
Using animals helps us advance research.
It's hard, the last thing
we want to do is harm
anything, but, my son, he
won't be able to get the
treatments that he needs.
The disease picked the wrong person.
I'm gonna fight this tooth and nail.
[intense music]
This is Mason, he's got NF1, and he
and his family live in Madison, Wisconsin.
As a parent, my dream for Mason is that
he can just be who he is,
and live a happy life.
That's Mason's dad, Chuck.
Mason's disease is caused by a mutation
in a gene called NF1.
The gene works as a tumor suppressor,
so that means mutations
can actually cause tumors
to grow throughout the body.
When we found out, it was devastating,
because we went to the hospital,
the oncologist said take
pictures of your sons face,
because more than likely,
it's gonna be deformed.
Confirming it, makes it real.
Whenever I see facts, I know
we need to figure out a plan.
Luckily, Chuck's job
is facilitating cutting
edge scientific research.
Chuck discovered that what
NF1 research was missing
was a better model to
use to study the disease.
He ended up connecting with this guy,
his name is Dr. Dhanu.
My entire career generally
has been about finding
ways to translationally model diseases.
Basically, he's an expert
at using animals as models
to study human diseases.
From that point forward,
we started kind of devising
a plan of how to create this swine model.
I often compare our genome as a book.
With NF1, one letter changed,
so we are trying to create
that same change in the pigs,
so the pig now tells the
same story as the person
with the disease.
When we first started to go
down the idea of creating
a pig model of NF1, I
realized there are over
4,000 different mutations, a single pig,
just wasn't going to reflect
the complexity of the disease.
How are we going to do this?
Genetically engineering a pig,
is like launching a shuttle.
We need to learn every bolt, every screw.
To create their first
genetically engineered pig,
Dhanu and his team decided
to use a technology called
CRISPR, which allows
them to modify genes.
The first part is understanding
the gene sequence.
And where are we going to create the edit.
That's what these two are doing.
So if we look here, so
here's the locus we wanted to edit.
Okay.
After they decide where to edit the chain,
they create a chemical
solution that contains the gene
editing CRISPR.
They then collect embryos from a pig,
and inject those embryos
with the CRISPR solution.
So I have my two needles,
so one's gonna be my
holding needle, it's gonna
hold my embryo in place.
The other one is my injection needle,
which has the CRISPR
reagents loaded into it.
After that, they implant
the embryos in another pig,
and then they wait for about four months
for a pig to be born.
And if they did everything right,
they should have an NF1 pig.
So, this is Tank, he is
the first trained NF4
that we had.
So Tank was sort of our
first achievement in terms
of genetic editing.
It means a lot because
it set up their first
stab towards finding a therapy, a cure.
When Dhanu said we're gonna
allow Mason to name the
male boar, I assumed he
was gonna name him Mr Pig,
or something like that.
And the first thing he said
was, we need to name him Tank.
You know, because this boar, he
is a soldier for NF1.
He's assisting us to
fight, he's serving, so.
For Dhanu and his
team, this is about more
than just research.
It's personal.
The pressure of trying
to find a cure for NF1
suddenly is stronger or
bigger than any pressures
we faced by tackling anything else.
My team and I have gotten
to know the community.
We're really excited right
now, as I was telling
everybody that we've got a lot of ideas,
we're very determined.
What we're doing here in Madison,
we'll be able to say Dhanu,
and Jamie, and Chuck,
these are the individuals
that are doing this research.
That's so unique, I
don't think you realize
how unique that is.
We will often hear so
and so has got an MRI,
and they spotted something
that looks like a tumor.
And immediately, our thought
is, we gotta speed up.
People that are uncomfortable
with the modification
of animal models, I completely
understand, I really do.
My first reaction when I saw the first
genetically engineered pig that had NF,
that we developed here, was a little sad.
We gave this poor animal
neurofibromatosis,
but this is going to be
the link that develops
some sort of treatment or
a cure for my daughter, so...
I would say to those folks,
that it's a walk a mile in
my shoes type of scenario.
We would like to start
modeling as many children
as possible.
Our current goal is about
20 different models in the
next couple years.
I know a number of children and adults
that are afflicted with it, and seeing
the difficulties they go through.
Hopefully, I can assist in
helping possibly finding a cure.
Will there ever be a cure for NF1?
I don't know, will I stop
trying to find a cure?
Probably not.
[music]
