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

8 min read
Transcript Solving the mystery of rare diseases with technology and crowdfunding 0:00 Translator: Helena Bowen...

Transcript

Solving the mystery of rare diseases with technology and crowdfunding

0:00
Translator: Helena Bowen Reviewer: Denise RQ
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About three years ago, a little boy changed my life.
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There was at Johns Hopkins doing my studies in the MD PhD program
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where I just finished my work in cancer genomics
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and some work in pediatrics
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when I met this little boy only represented here.
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This little boy was bound by a wheelchair.
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His family had taken him to all the major hospitals:
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Harvard, Mayo Clinic and now at Johns Hopkins
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trying to figure out what was wrong with him.
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He was born healthy, but around the years of 3 and 4,
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all of the sudden, lost ability to control the body,
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and by the time he came to us, he was wheelchair-bound.
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The whole family came.
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They drove 8 to 10 hours to come to Johns Hopkins to seek answers.
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We saw the family and saw their big stacks of charts,
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and said, “yes, definitely, we will definitely try to help you there.”
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About halfway through the exam,
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the little boy started making a moaning sound
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like (small moan).
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and then the moaning became louder, (loud moan),
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and before I knew it, he was yelling at the top of his lungs.
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The mom tried to calm him down but couldn’t, and she started apologizing.
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“I’m so sorry he’s making such a fuss.”
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Our hearts broke.
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We said, “No, no need to apologize.
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We have no idea what you go through.
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We will try our best to figure out how to help your little boy.”
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After three and four hours of visits and looking through exams and charts,
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we came out to the mother and said:
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“Unfortunately, there is no additional test that we could do.”
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Because what this little boy had was so rare
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that there was not an existing test to be able to help.
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I sat there and saw the mom’s face drop in disappointment.
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I thought to myself,
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can we use the revolution in genomics to be able to help these kids?
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I learned that this kid wasn’t just one kid.
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There are many, many kids who are like this.
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Kids with undiagnosed diseases, with rare diseases,
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who go place to place trying to find answers,
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but unfortunately, there are none.
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In fact, there are millions and millions of such patients with rare diseases,
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and even as we are here, in the two days for TEDxMidAtlantic,
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74,000 new patients will be diagnosed with a rare or undiagnosed disease.
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You say: These are rare diseases, how can it be such a big number?”
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But the thing is, it’s spread around 7,000 different diseases.
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Each of them could affect a few hundred people,
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a few thousand people,
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but in conglomerate, affects a large population.
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Thus, because it’s such a spread out kind of disease,
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it’s very, very hard to solve,
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and thus, only 3% of them have any type of therapy at all.
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Very, very few of them even have thoughts of being cured.
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So, we started to think:
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“What’s the mechanism for us to be able to solve these diseases?”
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It’s a long tail problem.
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A lot of diseases each in little parts.
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We decided that top-down systems were not designed to solve these problems.
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How can we think of a bottom-up approach to be able to help?
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So my friends and I decided to start the Rare Genomics Institute
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to create bottom-up approaches
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to empower patients themselves and communities themselves
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to be able to advance research in rare diseases
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for them to be able to find answers.
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So how do we do this?
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This is an exciting time
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because we are now in a junction of three really amazing times in history.
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First, the revolution in genomics, also the rise of the Internet,
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and the rise of online fundraising allowing us to even think about this.
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So how do we do this?
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Let me walk you through an example.
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This is Robert.
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He was born healthy, a cute little kid, as you can see.
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By the time that he was one, he was crawling like any other boy.
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But then the mother realized that he was feeding a little less briskly
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and then, not moving as much anymore.
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Within the span of 3 days, he became limp and was rushed to the hospital,
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trying to figure out what was wrong.
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They went to doctor after doctor.
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Millions of dollars have been spent on him trying to figure out answers.
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14 years later, Robert is still confined to a wheelchair,
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unable to feed himself, unable to help himself,
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and still with no answer of what’s wrong.
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So how can we help Robert?
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First, we bring the world’s best technology.
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Genomic sciences has revolutionized our understanding of biology.
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Within the last ten years,
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the drop in genome sequencing prices has been a million fold.
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Something that cost one million dollars now only costs one dollar.
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We can now think about being able to sequence Robert’s genome just for him.
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Secondly, we have the technology but can we find the people to do it?
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So we started asking around at top universities, saying:
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“You’ve done similar research, not for this disease,
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but can you do it for individuals that we’d bring to you?”
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For Robert, we were able to find experts
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from Johns Hopkins and Baylor College of Medicine.
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We have a worldwide network of scientists willing to help patients like these.
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Lastly, how do you find money to be able to fund these patients?
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Since these are so rare, there’s often not federal funding for that disease.
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So we turn to crowdfunding, a new development.
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For each patient, we create a page like any other crowdfunding site,
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and families are able to raise funds – five dollars here, ten dollars there
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from friends, families, aunts, uncles, and even strangers.
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For Robert, a total of $7,700 was raised from about 175 people,
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an average of $50 from strangers to uncles, to distant relatives.
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It’s funding the most advanced biotechnology
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to be able to figure out what’s wrong in Robert.
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Instead of Robert going from place to place not having answers,
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we have a whole team of people:
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people funding Robert, people doing research for Robert,
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people helping Robert to be able to figure out what’s wrong.
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Today we have a special treat:
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we actually have Robert here because he lives in D.C.,
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so we’re going to bring him on stage.
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(Applause)
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This is Robert and Robert’s mom, Geneva.
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This is the coolest news I’m going to tell you:
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we figured out what was wrong with Robert.
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(Applause)
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He has a mutation of the gene PRPKA which is called Dystonia 16,
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and he is one of nine patients ever recorded in medical history
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to have this disease.
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So he could’ve seen all the doctors in the world
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and potentially not be able to figure this out.
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Robert is now going to communicate with us through his trusty iPad,
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so Robert, do you have any words for us?
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Robert: I’m excited to be here and share my story.
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(Applause)
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I love my life.
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I love going to school on the school bus and hanging out with my friends.
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(Applause)
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I hope therapies can be found to help me move better.
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I want to inspire kids to go into science,
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like my sister Edith, who’s been inspired by me.
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Thank you Jimmy.
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(Applause)
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Jimmy Lin: What’s amazing about Robert is, like Sam we heard yesterday,
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he loves his life, and he has amazing parents.
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He is actually really excited to be able to help advance science
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by donation of his genes and research,
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and to be able to inspire people to do that,
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and that is just inspiring to me.
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Thank you.
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(Applause)
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This is just the beginning.
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We’re here and excited to announce for the first time
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phase two of Rare Genomics Institute.
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We’re now successful in discovering genes.
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Now we want to figure out what they do and potentially find cures and therapies.
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We do this in three separate mechanisms.
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First, figure out how to store and share information.
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Secondly, figure out new ideas,
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and thirdly, to be able to do experiments to do that.
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We do this all through crowdsourcing and crowdfunding
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to be able to leverage mechanisms from the bottom up.
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So how do we do this?
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Firstly, storage and sharing.
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We do this in three separate ways.
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First of all, we created a partnership with a company called Patients Know Best,
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an online medical record system;
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rare disease patients visit so many different doctors.
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To be able to centralize that information, they control that information,
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then they can send it to any researcher or any doctor in an easy manner.
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We’re also storing research information, like whole genome information,
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micro information, again on the cloud, so that can also be shared.
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Even more thoroughly, we’ve created patient-centric biobanking.
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So instead of a university owning your specimen,
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you actually have our own specimen.
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Robert would own his own specimen,
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and it could be sent to any researcher so that research can be done for Robert.
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The central storage of patient data, of medical records, of research data,
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and specimens is the foundation from which we can build upon.
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(Applause)
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What do these genes mean?
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Right now we have a small team of about 50 scientists,
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but we’re going to open it up
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to hopefully hundreds and thousands of scientists.
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We post up these projects and have people provide ideas that they have,
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and research that may be relevant to that.
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For Robert, I’m excited to say
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that we actually found people who are actually working on that gene
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from the UK, from the NIH, and the University of Southern California,
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who are now actively working on Robert’s gene.
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Lastly, how do we carry this out?
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Sometimes there might not be a university already doing this.
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We partnered with a company called Assay Depot,
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which is sort of an Amazon.com for research,
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so once you have an experiment you want to do, you can just go online,
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click: “I want a proteomic study, send it from my biobank,
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and deposit the research back into my account.”
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(Applause)
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That’s our dream:
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that Robert one day will not be only 1 of 9 people to have this disease,
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but will have advancements to be able to find therapies and find cures for him.
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Robert is only one of many people that we’re trying to help.
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We’re helping a lot of cute kids, like Maya.
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Like David.
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Like Jaoking, all the way from Chile.
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From Sabrina,
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from Balazs,
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from Annaston,
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and we will not rest until we find therapies and cures
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for the millions of kids out there,
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for the thousands of rare diseases that exist.
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There is no disease too rare.
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There is no person’s life that is not valuable.
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We want to find a cure for all of these.
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Thank you very much.
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(Applause)

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