Brian Brooks, Nih - Seeking better vision for patients with albinism

[ 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.