In 1973, first
to recognize
mucopolysaccharide
disease Type
VII (now called
Sly Syndrome)
as an inherited
metabolic disease;
ground breaking
research in
medical genetics,
cell biology
and lysosomal
storage diseases
has led to new
approaches to
diagnosis of
inherited diseases
and possibilities
of gene therapy.
Dr. Sly is
recognized internationally
for his work
on inherited
human diseases.
Best known for
research on
lysosomal storage
diseases, he
is also known
for biochemical
genetic studies
that revealed
the molecular
bases of human
carbonic anhydrase
deficiencies
and of the inherited
disease that
causes the accumulation
of a chemical
misidentified
as ethylene
glycol. Most
recently, Dr.
Sly’s
pioneering research
at St. Louis
University School
of Medicine
in gene therapy
has led to development
of a genetic
screening test
for hereditary
hemochromatosis,
making diagnosis
possible before
symptoms appear.
He received
the 1999 Coriell
Medal, given
every other
year, from the
Coriell Institute
for Medical
Research.
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