Please wait while the transcript is being prepared...
0:00
Thank you for
attending the talk.
I'm Martin Steinberg,
Professor of
Medicine at the
Boston University
Chobanian & Avedisian School
of Medicine in Boston
and Attending Physician
at Boston Medical Center.
I am here to talk
this morning about
sickle cell disease.
0:18
This slide shows my disclosures.
0:23
I'm going to begin with
a timeline of discovery,
both of DNA and of sickle
cell anemia because
these two separate timelines
are closely intertwined.
The DNA was discovered
back in the late 1800s.
It was in the 1940s
that Avery, MacLeod,
and McCarty found that
DNA was the subject
of hereditary transmission
of genetic traits.
Watson and Crick solved
the structure of
DNA in the 1950s.
Cohen and Boyer introduced
the era of recombinant DNA.
The ability to sequence DNA
came shortly
afterward by Sanger,
Maxam, and Gilbert.
Mullis and associates
first developed
a polymerase chain reaction that
allowed easy
manipulation of DNA.
The human genome was
sequenced in the early 2000s,
and in the mid-2000s,
the CRISPR/Cas system
of bacteria was
found to be a simple way
of making precise
changes in DNA.
In parallel, the sickle
cell disease was discovered
in the 1910s by Herrick.
Pauling first found
abnormal hemoglobin
in individuals with
sickle cell disease.
Janet Watson, a pediatrician,
noted that fetal hemoglobin had
a beneficial effect on
individuals with
sickle cell disease.
Neel and Beet showed
how sickle cell
disease was inherited.
Vernon Ingram found
the mutation that
distinguished sickle hemoglobin
from normal hemoglobin.
Variation in the human
genome in the form of
restriction fragment
length polymorphisms that
allowed the distinction of
different chromosomal structures.
Hydroxyurea, a treatment
for sickle cell disease,
was approved by the
USFDA in the mid-1990s.
Now, at present, we're on
the cusp of cell-based
therapeutics
by editing the genome
or adding genes,
which is possible,
will result in a cure
for sickle cell disease.
We also have haploidentical
transplantation,
different therapeutic means of
inducing fetal
hemoglobin production,
and combination drug
therapy that we
hope leads to the improvement
of the lives of many patients.
