Transcriber: Helena Bowen Reviewer: Denise RQ
About three years ago, a little boy changed my life.
There was at Johns Hopkins doing my studies in the MD PhD program
where I just finished my work in cancer genomics
and some work in pediatrics
when I met this little boy only represented here.
This little boy was bound by a wheelchair.
His family had taken him to all the major hospitals:
Harvard, Mayo Clinic and now at Johns Hopkins
trying to figure out what was wrong with him.
He was born healthy, but around the years of 3 and 4,
all of the sudden, lost ability to control the body,
and by the time he came to us, he was wheelchair-bound.
The whole family came.
They drove 8 to 10 hours to come to Johns Hopkins to seek answers.
We saw the family and saw their big stacks of charts,
and said, "yes, definitely, we will definitely try to help you there."
About halfway through the exam,
the little boy started making a moaning sound
like (small moan).
and then the moaning became louder, (loud moan),
and before I knew it, he was yelling at the top of his lungs.
The mom tried to calm him down but couldn't, and she started apologizing.
"I'm so sorry he's making such a fuss."
Our hearts broke.
We said, "No, no need to apologize.
We have no idea what you go through.
We will try our best to figure out how to help your little boy."
After three and four hours of visits and looking through exams and charts,
we came out to the mother and said:
"Unfortunately, there is no additional test that we could do."
Because what this little boy had was so rare
that there was not an existing test to be able to help.
I sat there and saw the mom's face drop in disappointment.
I thought to myself,
can we use the revolution in genomics to be able to help these kids?
I learned that this kid wasn't just one kid.
There are many, many kids who are like this.
Kids with undiagnosed diseases, with rare diseases,
who go place to place trying to find answers,
but unfortunately, there are none.
In fact, there are millions and millions of such patients with rare diseases,
and even as we are here, in the two days for TEDxMidAtlantic,
74,000 new patients will be diagnosed with a rare or undiagnosed disease.
You say: These are rare diseases, how can it be such a big number?"
But the thing is, it's spread around 7,000 different diseases.
Each of them could affect a few hundred people,
a few thousand people,
but in conglomerate, affects a large population.
Thus, because it's such a spread out kind of disease,
it's very, very hard to solve,
and thus, only 3% of them have any type of therapy at all.
Very, very few of them even have thoughts of being cured.
So, we started to think:
"What's the mechanism for us to be able to solve these diseases?"
It's a long tail problem.
A lot of diseases each in little parts.
We decided that top-down systems were not designed to solve these problems.
How can we think of a bottom-up approach to be able to help?
So my friends and I decided to start the Rare Genomics Institute
to create bottom-up approaches
to empower patients themselves and communities themselves
to be able to advance research in rare diseases
for them to be able to find answers.
So how do we do this?
This is an exciting time
because we are now in a junction of three really amazing times in history.
First, the revolution in genomics, also the rise of the Internet,
and the rise of online fundraising allowing us to even think about this.
So how do we do this?
Let me walk you through an example.
This is Robert.
He was born healthy, a cute little kid, as you can see.
By the time that he was one, he was crawling like any other boy.
But then the mother realized that he was feeding a little less briskly
and then, not moving as much anymore.
Within the span of 3 days, he became limp and was rushed to the hospital,
trying to figure out what was wrong.
They went to doctor after doctor.
Millions of dollars have been spent on him trying to figure out answers.
14 years later, Robert is still confined to a wheelchair,
unable to feed himself, unable to help himself,
and still with no answer of what's wrong.
So how can we help Robert?
First, we bring the world's best technology.
Genomic sciences has revolutionized our understanding of biology.
Within the last ten years,
the drop in genome sequencing prices has been a million fold.
Something that cost one million dollars now only costs one dollar.
We can now think about being able to sequence Robert's genome just for him.
Secondly, we have the technology but can we find the people to do it?
So we started asking around at top universities, saying:
"You've done similar research, not for this disease,
but can you do it for individuals that we'd bring to you?"
For Robert, we were able to find experts
from Johns Hopkins and Baylor College of Medicine.
We have a worldwide network of scientists willing to help patients like these.
Lastly, how do you find money to be able to fund these patients?
Since these are so rare, there's often not federal funding for that disease.
So we turn to crowdfunding, a new development.
For each patient, we create a page like any other crowdfunding site,
and families are able to raise funds - five dollars here, ten dollars there
from friends, families, aunts, uncles, and even strangers.
For Robert, a total of $7,700 was raised from about 175 people,
an average of $50 from strangers to uncles, to distant relatives.
It's funding the most advanced biotechnology
to be able to figure out what's wrong in Robert.
Instead of Robert going from place to place not having answers,
we have a whole team of people:
people funding Robert, people doing research for Robert,
people helping Robert to be able to figure out what's wrong.
Today we have a special treat:
we actually have Robert here because he lives in D.C.,
so we're going to bring him on stage.
(Applause)
This is Robert and Robert's mom, Geneva.
This is the coolest news I'm going to tell you:
we figured out what was wrong with Robert.
(Applause)
He has a mutation of the gene PRPKA which is called Dystonia 16,
and he is one of nine patients ever recorded in medical history
to have this disease.
So he could've seen all the doctors in the world
and potentially not be able to figure this out.
Robert is now going to communicate with us through his trusty iPad,
so Robert, do you have any words for us?
Robert: I'm excited to be here and share my story.
(Applause)
I love my life.
I love going to school on the school bus and hanging out with my friends.
(Applause)
I hope therapies can be found to help me move better.
I want to inspire kids to go into science,
like my sister Edith, who's been inspired by me.
Thank you Jimmy.
(Applause)
Jimmy Lin: What's amazing about Robert is, like Sam we heard yesterday,
he loves his life, and he has amazing parents.
He is actually really excited to be able to help advance science
by donation of his genes and research,
and to be able to inspire people to do that,
and that is just inspiring to me.
Thank you.
(Applause)
This is just the beginning.
We're here and excited to announce for the first time
phase two of Rare Genomics Institute.
We're now successful in discovering genes.
Now we want to figure out what they do and potentially find cures and therapies.
We do this in three separate mechanisms.
First, figure out how to store and share information.
Secondly, figure out new ideas,
and thirdly, to be able to do experiments to do that.
We do this all through crowdsourcing and crowdfunding
to be able to leverage mechanisms from the bottom up.
So how do we do this?
Firstly, storage and sharing.
We do this in three separate ways.
First of all, we created a partnership with a company called Patients Know Best,
an online medical record system;
rare disease patients visit so many different doctors.
To be able to centralize that information, they control that information,
then they can send it to any researcher or any doctor in an easy manner.
We're also storing research information, like whole genome information,
micro information, again on the cloud, so that can also be shared.
Even more thoroughly, we've created patient-centric biobanking.
So instead of a university owning your specimen,
you actually have our own specimen.
Robert would own his own specimen,
and it could be sent to any researcher so that research can be done for Robert.
The central storage of patient data, of medical records, of research data,
and specimens is the foundation from which we can build upon.
(Applause)
What do these genes mean?
Right now we have a small team of about 50 scientists,
but we're going to open it up
to hopefully hundreds and thousands of scientists.
We post up these projects and have people provide ideas that they have,
and research that may be relevant to that.
For Robert, I'm excited to say
that we actually found people who are actually working on that gene
from the UK, from the NIH, and the University of Southern California,
who are now actively working on Robert's gene.
Lastly, how do we carry this out?
Sometimes there might not be a university already doing this.
We partnered with a company called Assay Depot,
which is sort of an Amazon.com for research,
so once you have an experiment you want to do, you can just go online,
click: "I want a proteomic study, send it from my biobank,
and deposit the research back into my account."
(Applause)
That's our dream:
that Robert one day will not be only 1 of 9 people to have this disease,
but will have advancements to be able to find therapies and find cures for him.
Robert is only one of many people that we're trying to help.
We're helping a lot of cute kids, like Maya.
Like David.
Like Jaoking, all the way from Chile.
From Sabrina,
from Balazs,
from Annaston,
and we will not rest until we find therapies and cures
for the millions of kids out there,
for the thousands of rare diseases that exist.
There is no disease too rare.
There is no person's life that is not valuable.
We want to find a cure for all of these.
Thank you very much.
(Applause)