Solving the mystery of rare diseases with technology and crowdfunding: Jimmy Lin at TEDxMidAtlantic


Translator: 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)

6 thoughts on “Solving the mystery of rare diseases with technology and crowdfunding: Jimmy Lin at TEDxMidAtlantic

  1. it's a beautiful thing to see people like this on earth 🙂 amazing job! (sorry for my english, i really admire your work) 

    only one question: is this institute centered only on genetic rare diseases or other kinds of rare diseases also?  

  2. This guy speaks kind of like some people at the church I got baptized in. I'm not sure if it's a Chinese-American thing though. A lot of the ABCs at the church I currently attend don't really have this manner of speaking.

  3. Do they cut and edit this at 1;32 because it sounds like he’s going to cry and then the camera view is switched and his voice is fine. Did they edit his out crying or something?

  4. Technology is used cause people pain, to make them sick, to brainwash and monitor them, and especially to induce the growth of brain tumors. It's just a shame I couldn't have learned about it sooner.

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