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Greetings, today we are talking
about prenatal
genetic diagnosis.
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It turns out that we
are in the golden era
of human genetics,
that's been the
case really since
the late '50s, which was at
that point the time when
they first figured out
how many chromosomes we
each have in every cell
because previously
they didn't get it quite
right and that was
in fact the time when
they first discovered
there's an extra
chromosome that can
appear and that
was the first time
they recognized what is called
Trisomy 21 or Down syndrome.
That was the very first time
in the late '50s but also
that was the time when
Vernon Ingram at MIT
here in Boston first
noted and wrote about
the first amino acid
change in a protein that
caused a disease and that
was sickle-cell disease.
That was the first time
anybody had ever recognized
that a simple alteration
of one amino acid in
the protein could cause
a genetic disorder.
After that everybody started
chasing single genes trying to
find a culprit to gene that
caused a genetic disorder.
Through the '80s and '90s
that was the big hunt,
the hunt for the gene for
whatever disease that you were
interested in at the time and
we also in fact made history by
finding a gene that
causes a condition
called Waardenburg
syndrome, a disorder where
deafness is among
the major features
but there are other
features too.
It turned out that all of
this set the stage for
the ability to grow
amniotic fluid cells in
tissue culture and that occurred
1965 at Yale in
Connecticut in the US and
steadily through the
late '60s it became
possible to grow amniotic
fluid cells and pop them open
and find abnormal
chromosome compliment
of those cells and
hence set the stage for
prenatal genetic diagnosis.
I had the opportunity of opening
the second laboratory
in the United States at
the Massachusetts
General Hospital in
Harvard when I was there at
the time for diagnostics
for prenatal studies.
