I began my work in albinism
originally working with mice.
And the question was: why are there so many different colored mice?
I found that mutations in that same gene
are the cause of the most common form of albinism in people,
which we call oculocutaneous albinism
type 2 or OCA2.
This is the type of albinism that's most common
in Africa and among
peoples of African origin.
We estimate that about one in 1,400 individuals in Tanzania has albinism.
This is very high compared to
the statistics we have for the human population in general,
which is about 1 in 20,000 for all forms of albinism.
Indeed this specific form of albinism that's
very common in Tanzania, that we see in this
one in 1,400 individuals,
worldwide that form of albinism is present in about one in 40,000.
That form of albinisim is what we call recessive.
If you have two good copies of
that gene, you can make normal amounts of pigment.
If you have only one good copy of that gene,
you can still make normal amounts of pigment and you don't have
albinism. That's the carrier state.
However, if you have two copies of the gene that
do not function, as we see in people with albinism,
there's no ability to make melanin and so those people
have albinism.
One of the interesting features that we found when we were trying to
better understand why albinism is so common
in Tanzania, is we've developed a hypothesis
that carriers for that form of albinism
have a resistance to some sort of infection.
This we call 'balanced selection',
such that the carriers have an advantage but
people with albinism obviously don't have an advantage
in Africa, in particular.
So, what is that potential advantage that these one in 19 people in Tanzania
have over other folks that are not carriers?
In Tanzania it's present in about one in 1,400 hundred individuals.
In parts of Sulawesi, Indonesia
among the Minahasan people, for example we estimate
that about one in 600 people have albinsim.
In Panama, San Blas Islands,
where the Kuna people live,
we've actually found albinism present at an extremely high frequency
close to one in a hundred
among the Kuna people.
For me, the responsibility
doesn't end with knowing what the gene is
or even knowing what medication might help these people.
The responsibility is to ensure that
all human beings, regardless of their
genetics, are afforded
the same rights as any other person.