- We always knew there were
vision problems in my family.
I remember visiting my great
grandmother when I was a kid.
She was blind, never left the house.
I definitely noticed it in my father
and as the disease progressed
in him it was very clear.
We learned about it actually
from, that my daughter had it.
She was in college and she said
that it was confirmed in her.
She said, "Dad, you must have it."
- BEST disease is a disease
which is caused by the gene BEST1,
similar to the age-related
macular degeneration,
which is very common, this
is a relatively rare disease.
About 10,000 people have
it in the United States
and it causes some of
them severe blindness.
- This is an example of a rare disease
that has a well defined genetic basis,
a single mutation that
is causing that disorder
where there's an opportunity
to treat patients using
the CRISPR technology
and offer them an opportunity,
for in the end, we hope, a cure.
- Genome surgery is where
we find a specific place
in the genome which is causing a problem
and that we can fix that by cutting
and repairing that problem.
The process that we go
through for Jim Johnsen,
what we did is we took his blood,
turned it into stem cells
and then we take the stem cells
and we grow it into his retinal cells.
We grow it into the exact
cells that have the disease
and then, now we're taking those cells
and then editing those cells,
so that we know exactly when we edit
that we can take the bad gene out
and leave the good one in
and optimize everything in his own cells
before going into him.
- I see this project as
stopping a decline in me
and then, the many other
people who could be helped
through the use of Cas9 gene therapy.
- I really have to credit Bruce Conklin
at the Gladstone Institute at UCSF
for envisioning a path in the future
by which clinicians would be
able to use genome editing
as a standard of care.
Imagining a world where, someday,
people go to the doctor and
they have their DNA sequenced.
We understand the genetic
basis of a disorder
they might be dealing with.
Instead of being able to,
you know, telling them
that they need to live with that disorder,
we have a technology that
can actually treat them,
potentially even cure them.
- There are over 7,000
different genetic diseases.
The ones that are the
best candidates however,
for right now, are the
ones where we know exactly
where to make the cut
and to make the repair,
and those are relatively few.
- Having a partnership between UCSF
and UC Berkeley to do that
and doing it through the organization
of The Genomics Institute is
a great opportunity to explain
and educate people about this technology
and also to invite people
to join us in our effort
to bring this important
technology into the clinic.
(uplifting music)
