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Almost every process in the body is the result of a
carefully orchestrated cascade of events, elements that must
be coordinated to come together to give a very
precisely amplified response.
Now amongst the most well studied or most carefully
studied of those cascades is that which leads to blood
coagulation.
How injury or exposure to foreign surfaces leads to the
formation of a stable blood clot is
essential to our survival.
And medicine's understanding of that process, how to stop
blood clotting when you don't want it to or keep the process
going when you do, has been essential to
our ability to intervene.
But also, it's given us an insight into important but
rare disease processes.
When a blood vessel becomes injured, the first thing that
happens are that platelets run in to try and plug the hole.
And platelets are just broken down bits of
old red blood cell.
But that, on its own, isn't enough.
You need to throw down this kind of biological chicken
wire on top of it to stabilise the clot.
And that stuff is strands of fibrin, a glycoprotein which
is the result of the coagulation cascade.
And if you imagine that this domino is one of the elements
of that cascade, you can see that all of them need to come
together perfectly.
And if any part of that chain is interrupted, then you don't
get the perfect clot.
Perhaps the best known of the genetic disorders of bleeding
is haemophilia in which an absence of factor VIII leads
to sometimes life threatening haemorrhage.
But there are others and one in particular, know as von
Willebrand's disease in which the absence of a specific
biomolecule leads to problems with prolonged bleeding.
Now that disease was first discovered in 1926 by a
physician researcher called Eric von Willebrand.
And he, confronted with a patient-- a
young girl, in fact--
who had problems with extensive bleeding, went on to
trace her family line and found that this was a disease
that ran in her family.
And so having discovered that disease, it would be several
decades before we understood DNA and inheritance well
enough to trace it down to a single gene that lay on
chromosome 12.
And that gene bears von Willebrand's name.
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