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I am a scientist and a drug developer. I
develop gene therapy designed to fix a
single error, a typo in the human
generic code that could cause life
written diseases such as blindness.
totally
lost of a human vision.
But I truly understand the purpose
through a student as a rare disease
degenerated her retina. The tax in her
books dissolved.
She losed the ability to navigate campus
and had to leave from university. Her
word photo of potential
began to really close in.
Medicine calls her condition rare
because it affect fewer than one in
2,000 people.
But here's the truth that reshaped my
life's work. There are over 7,000 such
rare diseases.
At every story together, you will find
a patient population of 350 million
people worldwide.
That's a population of United States,
Canada, and Australia combined.
Now, one in 15 people affected globally.
My folks on one gene, one disease
is not a niche pursuit. It is one vital
piece of 350 million people puzzle.
We medicalized isolation by calling them
rare.
Solving this is how we build a future
that everyone counts.
Those
puzzles have a devastating human cost
defined by two crew gaps.
The first gap is a diagnostic gap. For
progressive diseases,
times equals loss function. Yet
not everyone can receive a genetic test
that tells you what's wrong on the DNA
before it become actionable.
Even you can find the answer
but often after the time or the best
window for intervention has closed.
The second is a treatment gap.
After that long search, a harder truth
emerges.
Only a few tiny percentage of the rare
disease have a proved therapy. For the
vast majority, the diagnosis is an
answer but not a cure.
Patients exchange
the wildness of the unknown for the
agony of the untreatable.
It takes 10 to 15 years to develop one
medicine from discovery to market by
following a historical approach.
The most heartbreaking result
disease causes about 30%
of the deaths in UNATO intensive care
ICU.
Those are babies whose puzzle we cannot
solve.
is either science or speed in time.
This is not a just a challenging. It's a
human emergency hiding in plain sight.
So how do we solve the puzzle?
My field gene therapy aims for one-time
treatment that correct the error at the
root. However,
no single group can tackling 7,000
diseases. This is a global mission.
We design and test one medicine in one
country,
trial cross nations, share data
worldwide.
We overcome
scientific challenging,
regulatory barriers,
finance hardship.
We leverage global resources,
cutting edge technology like AI to
accelerate this,
turning a search from years to months
into days.
our most crucial partner, the patient
and the family.
They're the heroes
sharing their personal story and the
data advocating for research and the
resources. Most importantly as true
trailblazer
participant in clinical trial to test
the safety and the efficacy of the
medicine experimental medicine before it
become available to others. Their true
architect co-architect of their solution
consider the most recent proof of what's
possible
at Children Hospital of Philadelphia.
A baby named KJ was born with a severe
rare disease.
His body cannot process a protein due to
a single error on his DNA.
He spent the first few months in the
hospital on extremely limited diet.
Then at just six months later, he become
the first child to receive a customized
gene editing therapy that fix that
single error on his DNA designed for
only him.
The medicine was not made by a single
person or single group.
It takes collective effort from
biologist,
doctors,
regulators,
drug developers,
and the family who refused to wait.
All working together cross discipline in
record time.
The treatment worked. Today, KJ is not
only alive,
he's living and growing, thriving
in a life his family never thought
possible.
This is a medicine for one person, one
era, and one cure.
Kudos to those who have worked so hard
to make this possible.
And now the regulatory agency has opened
a new path to make those personalized
treatment possible.
All because our community has show all
are possible when we work together.
What emerges when pieces connect? The
hope
revolutionize all medicine. The
experience we learned from ultra rare
disease namely N equal to one
for example for KJ personalized
treatment for more common ones
the collaborative model
become a blueprint for solving global
puzzle.
See rare
not as footprint
but as 350
million teachers showing us the limit of
our of our system and the bonelessness
of human resilience.
When we work together we build a world
that solve the puzzles. We build a world
that understand the fundamental truth
in health,
in humanity, everyone counts.
Most recently, I have heard the student
I mentioned at the beginning of my talk,
the one who dropped her from university
is now planning her return to to the
university overseas after receiving a
vision restoration gene therapy.
She's able to read the textbook again.
For her, a new life has been restored.
This is why we work
to accelerate this hope
and make it available for millions
waiting.
Because here's a common sense that go
far beyond the medicine.
Every single one of us has felt like a
puzzle piece that doesn't quite fit.
Whether from a hidden struggle
or m misunderstood differences or a
moment when the world moved too fast and
left us behind.
The 350 million people affected by rare
disease are not a separate category.
They're a mirror. Their fight
for a diagnosis
reflects our own long to be seen. Their
wait
for treatment echoes every time we have
prayed for a second chance in our life.
Solving this puzzle is not just an act
of medicine. It's a declaration that
no person should be considered too few
to matter, too different to help
or too small to count.
This is a scene that bind us all in the
world of billions.
Every single story
is a piece of the same human puzzle.
We cannot do this alone.
Amplify
the possibility and the promise from n =
1
to n = to 350 million and hopefully to
everyone.
It will take
yes all of us.
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