Better Vision for Patients with Albinism – Brian Brooks, NIH Clinician Scientist

Better Vision for Patients with Albinism – Brian Brooks, NIH Clinician Scientist


[ Silence ]>>K.>>Uh-huh.>>Z.>>Uh-huh.>>Can’t see that letter –>>Can’t see that –>>O. I’m seven years old
and my name is Lotus Goetz.>>Lotus has a condition
called oculocutaneous albinism. This is a genetic condition where there is reduced
melanin pigment in the hair, the skin, and the eyes. Lotus is probably a little
more sensitive to sunlight than folks without albinism. Her hair is a natural blonde
color and will remain so. But probably the
most important way that albinism impacts
patients is with their vision. Currently there are
no good treatments for the visual problems
for folks with oculocutaneous albinism.>>I don’t like that
I can’t see that well. And that’s the bad
thing about it. The two other things that I like about it is my
eyes and my hair color. I really like them. I want to keep them forever. [Laughter]>>So my favorite part is
being able to, on one hand, interact with patients
who have diseases that are still puzzling us
as doctors and to be able to take what I learn
from the patients to ask scientific questions
about their condition here in the laboratory, and then to
hopefully translate that back to something that will help
patients like our young Lotus. Lotus is currently not
on a treatment protocol, but what we like to do is to
be able to follow patients with conditions that
we are studying to learn how they respond
to certain kinds of testing, to try to figure out
what is the best way of testing their vision, and
to kind of keep them online when such time occurs when we do
have a treatment to offer them. What we’ve found
in mice is that, if the mice who have
albinism have a little bit of this enzyme tyrosinase
around, if you give them this pill,
this drug called nitisinone, you can make their fur and their
eyes become more pigmented. And so the question is, is if we
were to give this to patients, could we improve their vision? We can see an effect in adult
mice within one month time. The prenatal treatment that
we do takes about 10 days, and the mice instead of having
kind of an off-white fur color, develop a richer,
browner coat color. We’re really hoping that
nitisinone will be effective in treating patients
with albinism, that we will see an
improvement in pigmentation in humans the way
we’ve seen it in mice. And we’re also very eager to
try to identify other ways that we can affect the gene
that is affected in albinism, in most patients with
albinism in the U.S.>>Do you like working
with Dr. Brooks? Why?>>Yes I do. Because he’s funny and he’s fun. [Laughter]>>We try to have fun
in all that we do.>>I would say the doctors
here are really nice, and they’re really kind.