Transcriber: Alan Watson Reviewer: Darina Stoyanova
How many of you have kids?
I can see a raise of hands.
And any of your kids have ever been sick?
You are already sick, right?
And if you know that your kid has a sick, rare disease,
would you go to the end of the world to help your child?
I’ve met my first family with this rare disease.
A few years ago, I was finishing off my graduate work,
doing cancer research, and in paediatrics seeing patients.
Where I met this little Indian family that has subsequently changed my life.
The senior boy came to us.
They had been to some of the top experts already.
That time I was in Johns Hopkins.
They went to Harvard and Mayo Clinic.
And they are travelling to all the way from Albany to Baltimore,
trying to figure out what cures and what’s wrong with this little boy.
This little boy grew up healthily.
And around the age of, between sort of 3 and 4,
started to decline.
So unable to move his muscles, unable to talk, unable to feed.
And by the time he came to us around 6-year-old,
he was already in a wheelchair and wheelchair-bound.
And no doctors had been able to figure out what was wrong with him.
So the mom pleaded with us,
“Can you try to figure out what he has?”
We said, “Of course, this is what we do.
We’ll try, definitely.”
Half way through the exam,
the little boy started to whimper like (crying).
The whimper became louder, and louder.
Before we knew it,
he was shouting in pain at the top of his lungs.
My heart was broken.
The mom started to worry like,
“Oh! Don’t cry, don’t cry. I’m so sorry to apologize to us.
He’s making such a fuss.
Every time this does that at home, we don’t know what to do.
Can you help us? I’m so sorry.”
We just looked at the mom and said,
“We have no idea what you go through at home.
We definitely would try our hardest
to figure out what was wrong with your little boy
and try to make things better.”
We spent whole afternoon going through all the medical records,
looking at all the previous charts, pages and pages,
of things that previous doctors have done.
But behind close door talking to the physician,
we realised that there was no additional testing
that we could have done to help.
So we walked out of that room and told them up.
And I still remember that masked face when we said “I’m sorry.
There is no additional clinical testing we can do.”
And I still remember their backs,
the mom pushing the wheelchair down that hallway,
the way from the exam room,
and me thinking there has to be something we can do about this.
The thing is that this story is actually more common than you would think.
In the US alone,
it’s estimated between 25 and 30 million people
are affected with rare diseases.
So rare diseases affect less than 200 thousand people.
But you say, “Wow!
That’s almost 1 in 10 Americans.
How can this be so if they are rare?”
The thing is that there are over 7,000 of these rare diseases.
So when we add them all up,
they actually result in a large number of diseases.
And because there’re so many of them,
it’s very very hard for government top-down programs
to fund the research for all 7,000,
especially if these diseases affect very few people.
And you know there are very few advocates for them.
So it is then no surprise
that of these diseases only about 3% of them have therapy.
Can you imagine
that 97% of these people with rare diseases have no therapy
and when I’m talking about cure.
So this is a big problem.
And it is not a problem potentially that can result from top-down.
What we would thought about a bottom-up method.
What if we enable the parents’ love and energy of the 25-30 million parents
to be able to contribute to research for their kids?
Give them the right tools; give them the right connections,
the right scientists to be able to do that.
Potentially we can start stopping this problem.
So for some of my friends and I
after I sort of came back from this Indian boy
and we thought we had to do something.
And with my background in doing researching in cancer
and mapping cancer genomes,
we thought there are ways
that we can use knowledge and technology from common diseases as cancer
to be able to help these kids with rare diseases.
So bunch of us gathered and said we must do something.
We founded this no-profit, called Rare Genomics Institute.
And what it does is it equips and enables parents
to be able to do research
and advance understanding for their kids and rare diseases.
So what does this look like?
So one of our earliest children that we tried to help.
This is Robert. He is very very cute.
This was taken before he was one year old.
He was born healthy, grew healthily.
And about and after his first birthday,
mom noticed that he was feeding a little bit less briskly
and then he was moving a bit less.
And before he knew it, over the course of 3 days,
he was no longer moving.
He was limped.
They rushed him to the hospital, starting doing tests
and doing tests and doing tests.
A year passed. Two years passed.
14 years later, they still had not figured out what is wrong with Robert.
Robert today.
Robert is still in his wheelchair, unable to speak, unable to move,
and nobody can tell him what is wrong with Robert.
But think about this.
We are in a time in human history that this is very exciting
that people like Robert can be helped.
The first thing is there are explosions in Biotechnology.
We now only map the genome.
We can now do it for a lot more people.
There is explosion on the Internet.
People are more connected than before.
And furthermore, there’s allied therapy.
So if we take these components together,
we can actually create something that’s really powerful.
So how do we help Robert?
The first thing we need to figure out is what is the best technology to help them.
Over ten years ago, we mapped the human genome for the first time.
It costed billions of dollars.
International effort, multiple countries, coming together to be able
to map the genome for the first time.
What is amazing now is ten years later
there is a million fold decrease in the price of genomics.
So what was used to cost billions of dollars,
we can now do for thousands.
And it’s now possible
for us to think about even mapping Robert’s genome,
just for Robert, a study just for him.
This is the genome sequencing machine.
We put his DNA in.
We can put his parents’ DNAs in.
We can start looking at what genetically is wrong with Robert.
But this is advanced technology. How can Robert access this?
So then we need to recruit helpers.
The second critical component then are the scientists.
It’s not easy for anybody off the street to,
you know, knock on the door at a prestigious university
and like “Mr. Researcher, can you help my child?”
So instead we have gathered some top researchers
from universities in the US and around the world.
At Harvard and at Yale, like Johns Hopkins, who said that,
“You know what?
If you bring us a child, we’ll help. We will help.”
So for Robert, we have teams of scientists
at Johns Hopkins and Baltimore College of Medicine,
who said “Yes, bring us Robert and we will help.”
So that is the second piece.
The last piece is then
where does the money come from to sort of fund all these research.
Since government funding is more often for common diseases,
and there is no specific funding for patients like Robert.
So with the innovation of crowdfunding,
you know with websites like Kickstarter & Indiegogo
people are able to raise funds. At incredible rates.
We ourselves have built a platform where patients can come and create pages
and raise funds for these projects, for these children of rare diseases.
And this is Robert’s page.
You notice he has a goal of $7,700.
You see that’s so little to be able to do for a genome research
and that’s what’s amazing.
This enables for us to map Robert’s genome, his mom’s genome, his dad’s genome
to be able to look for what’s wrong.
And this was given from over 169 different people.
Friends, families, uncles, aunts.
All gathering together funding the state-of-the-art research
for one single child.
And now imagine that
instead of Robert going from hospital to hospital,
not being able to find the answer,
we have a whole team of funders, whole team of researchers,
whole team of people gathering
using the newest technology to be able
to be able to figure out and help Robert and to figure out what’s wrong.
You know what is amazing?
We havn't been able to share in other circumstances.
But we found out what is wrong with Robert.
Robert has a disease called Dystonia 16
and he is one of less than a dozen cases in recorded history.
He could have seen all the experts in the world
and nobody could be able to figure out what was wrong.
Now we found out that this is the disease that he had.
We figured out this disease actually affects Robert’s muscles
and not his intellect.
So the whole time the parents are saying
“You know we know Robert’s there.
Even though he can’t talk, we know that he’s there.”
But the doctor’s like “Oh, you know what?
This is probably wishful thinking of parents.”
What has happened is like we now know that 'No, Robert is there'.
What is amazing now is using technologies with tracking of eyes.
Robert is communicating for the first time with his family.
(Applause)
And the funniest part about this
is Robert has a really good sense of humour.
(Laughter)
He’ll say “Oh, that cat is dangerous and then me touch.” Right?
He is very mischievous.
Right now, we’re working on new therapies that can potentially help Robert.
Thinking about, you know,
using a dog stem cell, doing some simple drug screens.
And we are so excited to partner with Robert’s family
to be able to understand this disease, and even more to help Robert.
Robert is one of many stories.
I’ll tell a couple few, just to end our time here.
This is Maya, who is not only super cute,
but we helped her find what was wrong with her,
partnering with Yale university.
And it was called about…
Her mom is a blogger, so she raised the money within one day.
We sort of saw the money came in.
And we were able to figure out what was wrong
and she is the first patient for that disease.
And they are studying it right now at Yale.
This is David and I was excited to talk about David
because we just found out David’s diagnosis two weeks ago.
We have been walking with David for the last two years.
We eventually sort of became Facebook friends with all these families
and the mom was so excited to know about
David finally ending this diagnostic odyssey.
We have Joaking who has a very very sweet dad.
We worked for his dad.
His dad is a Chilean miner.
And they have trouble raising the funds
because, you know Chile, they don’t have much resources.
So his dad organised raffles and bingo contests.
And I remember that in the end when dad wrote me like
“We raised the money and we are ready to do it!”
And right now as we speak,
we have an international team of scientists in Canada and in the US
working for solutions for Joaking.
And these are some of other patients we were working for cures.
For Windsor, we tried to find out what’s wrong.
With Sabrina.
And we are looking at answers for Balazs.
And even answers for Annaston.
And in Rare Genomics, we really will not stop
until we are able to help find therapies and cures and diagnoses
for the millions and millions of kids with the rare diseases out there,
who often are unable to find a home for their diseases.
And Rare Genomics,
our belief is that if we gather the power and the love of parents,
equip them with the right tools and technologies,
gather around the communities around them,
we’ll be able to do some amazing things, grassroot from the bottom-up.
And we are really really excited.
Just imagine if of the 20-30 million rare disease patients,
a small sliver, thousand, ten thousand,
the amount of research
that we will be able to generate from the bottom-up,
solving diseases and finding cures.
Because it’s really our belief that there is no therapy or no cure,
that we can't find with the right technology,
with the right tools, powered by the love of families.
Because we believe that every disease deserves to be studied,
no matter how few people affected,
no matter how rare.
Thank you very much.
(Applause)