We always knew there where vision problems in my family. I remember visiting my great-grandmother when I was a kid. She was blind,
never left the house. Definitely noticed it in my father and, and
as the disease progressed in him, it was very clear. We learned about it actually from 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 a cutting and, and
and repairing that problem. The process that we we go through for Jim Johnson,
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 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 cell before going into him. I see this project as,
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 and that's the Gladstone Institute at UCSF for the 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, to, 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 can make the cut and to, 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 innovative genomics Institute is a great
opportunity to
explain and educate people about this technology and
also to invite people to join us join us in our effort to bring this important technology into the clinic.
