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>> The concept of precision medicine is basically to treat an individual human being with precision
and what that means is that we need to understand what is causing the medical problem so we can
develop and use therapies that are tailored toward the causes of the medical problem. We are
high throughput genotyping and sequencing center. Our goal is to analyze the genome and make
innovative new discoveries through identifying and uncovering new genetic variance that can tell
us what the genetic underpinnings are of their conditions so we can develop new therapies.
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This one is now just about to finish; it took just about ten years to sequence the first human
genome. It cost about two billion dollars. Today, we can now sequence approximately ten genomes
essentially overnight for less than a thousand dollars per genome. This is why the technology
is so powerful and allows us to basically make discoveries now in a very large number
of individuals. And this has allowed us similarly to develop drugs now in about ten
different disease areas based on the discoveries that the CHOP families have contributed.
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The lymphatic system in the human being is one of sort of, you know three vascular system. You have
the arterial vessels, you have the veins, and then you have the lymphatic systems, they are very thin
vessels that basically bring all of the fluid that leaks out of the veins and out of the arteries
back into circulation. So if the lymphatic system doesn't work normally or properly,
you swell up, you get fluid into the heart. Then there was this 12 year old boy who was
rapidly deteriorating and he was swelling up, and his lung function had deteriorated down to about
22, 23 percent which is almost incompatible with life.
So he was really with a life threatening disease when he came here to CHOP. Dr. Dong Lee identified
a mutation that the lymphatic vessels, they actually over grew and in a very torturous way
leaked fluid everywhere. We actually took this mutation and we put it into a Zebrafish model,
and then observed what sort of happened. As the fish developed all these sort of miss branching,
it developed swelling and pouching, and edema all over. We took a medicine that
had never been given to a child ever before. We showed that when we gave that medication
in the fish, these lymphatic abnormalities, completely reversed,
and Daniel responded almost immediately. Now, has been on this medicine for about three years.
He's running track and this was basically a patient we had absolutely no solution for
prior to identifying this mutation and testing it in a Zebrafish model.
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We've also worked extensively on more common complex disorders and made significant
advancements and discoveries in those areas. And probably one of the most significant one
was when we discovered genetic mutations in genes in the brain which are called metabotropic
glutamate receptors. And this is one of the biggest neurotransmitter systems in the brain
that regulates cognition, learning, memory, and values to, you know, behavior. And we found this
mutation to be most significantly impacting on children with ADHD.
But it was also went beyond ADHD because children with autism, children with anxiety,
children with mood disorders and depression, they were also enriched with mutations
in the metabotropic glutamate receptor. There is a potential here for treatment that could affect the
neural developmental disorder very broadly, and we finished the first clinical trial at CHOP where we
licensed in actually a medication that was sitting on a shelf in a company in Japan. We did a trial
in patients in the age range of 12 to 17, and when we treated these patients for five weeks, we saw
a stunning improvement in overall sort of, you know impact of this medication. They did better
in math, they socializing better, hyperactivity went down, and their attention span improved.
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CHOP has been exceptionally visionary in sort of, you know, bringing people here with expertise
that allow this type of breakthrough research to happen almost every day. And the resources
and investment that CHOP has made into this is utterly phenomenal. But when we get donations
from our donors, from patients and a like, we can utilize that funding differently. We can
be much more innovative and creative. We have the expertise on every front and our donors
they can only enhance and improve in every possible way they are willing to participate.
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