The Lost Genes of the Human Genome

The Lost Genes of the Human Genome


[MUSIC PLAYING] In 2001, the first draft
of the Human Genome Project was released. This is the most important,
most wondrous map ever produced by humankind. Really, people thought that this
was going to change everything. The human genome has
about 20,000 genes. Since 2001, a small
fraction of the genes are getting all the attention. There are roughly 5,000
genes which have not been studied at all,
and 18,000 of the 20,000 have not been studied
at all or have only been studied at a very
superficial level. Is this because these genes
are so important that we should give so much attention? And we wanted to
identify reasons that cause this inequality
in the attention. Why is this
distribution so skewed? [MUSIC PLAYING] Our starting hypothesis
was that if we gain a sufficient understanding
of the scientific process, we should be able to say
why some genes are only studied to a small extent
and other genes are heavily studied. We looked at previous
publications, and about different
databases, and measured physical and chemical
properties of these genes. What we found is
that actually very few of these features,
around 15 features, are predictive in terms of
whether they will receive a lot of attention,
or whether they will receive very little attention. It is mostly about the
experimental intractability– how easy it is to find
and measure these genes. A large [INAUDIBLE]. Bigger [INAUDIBLE]
is easier to pick out of a soup of [INAUDIBLE]
than a small one. How many copies of
the protein are there? There are lots. Again, it’s easier to fish
it out than if there are few. And so we made an analogy to
the streetlights joke, in which, even though you lost
the keys in a dark area, you are looking for them
under the light because that’s where you can see. So this is a call to arms. The NIH, NSF, all
the funding agencies should now say, what can we do? We are making decisions on
how life works on only knowing a fraction of the tools. And I think a lot
of the challenges we have in detection,
treatment of human disease is in part because
we’re making decisions without complete knowledge. [MUSIC PLAYING]

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