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]