news
CLINIC
SCITIPPS
iI-M]
'.
il1.-_i .\\{ iil'.i .\i']':{ili \l \li
For Information:
Sue Pondrom
News Bureau l{anager
(619) 554-8133
FOR RELE,ASEAUG. 11,
# 08 1 1 8 9 - 4
1989
SCRIPPS CLINIC RESEARCEERSDEVELOP
II{ETEOD$O PREDICT SEVERITY OF GAUCEERIS DISEASE
LA JOLLA, CA Aug.
11,
1989
Researchers at
and Research Foundation
in
predict
Gaucher's Disease,
the
severity
of
results,
published
upon
of
the
Scr ipps
Clinic
explains
thai
the
a
disease
with
so
of
death
benign
ds we]].
47 patients,
of
Beutler,
Molecular
manifestations
drsease'
particularly
the medicat journal,
of
Ernest
Department of
rapidll-fatai
to
authors,
a disorder
but found in othersr
studies
in the Aug. 12 issue
one
1ife,
based
Clinic
La Jol-La, CA have developed a method to
commonamong the Jewish population,
The
Scripps
I'r.D.,
wil_1 be
The Lancet.
chairman of
and Experimental
lvtedicine,
Gaucherrs Disease vary
occurring
that
ir-
in
is
the
fron, a
year
first
diagnosed
the
quite
of
by
accident.
Because physicians
of
the
disease
in
have been unabl-e to
its
early
identify
prognosis
stages,
the
severity
and
genetic
is
variable
counsel-inq have been difficult.
"We've
due
to
nIn
our
suspected
different
for
mutations
laboratories,
J-ooking at
disease will
the
some time
we've
mutation
become in
of
the
that
the
same gene,"
now worked
and classiflzing
the patient.
It{ORE
"
disease
out
it
to
Dr.
Beutler
a means of
says.
actually
see how severe
the
Page 2 --
Gaucher's
Dr.
Beutler
severity
Disease
gives
directly
two
Institutes
Rose stein
General clinical
family
of
had
was pregnant
mother
we were
able
to
L l r s \, 1..r. ir^ ^b^ ^c^ c r 5 c , b u t
In
Center
percent
for
the
that
severe
Lancet
is
biology
techniques
"In
of
1985,
gene
the
adding
that
Dr.
it
major
Cl-inic
in
and
would also
mild
the
form,
have
with
a
Disease,
bone
and
says this
a chird
about
so severely
the
rvas the
then
first
the
to
the
a
a 30
treatment
affected.
use of
genetic
Diseaser"
worked out
carries
published
stuoy
a n e x a m p J - eo f
with
neurologic
radical
Dr.
in
The
moi-ecular
disease.
report
the
cloning
Beutl-er
method to
look
says,
at
the
it.
a few years ago, each patient
project.
oata within
was diagnosed by the
Gaucher's
spleen,
Gaucher's
and classifiz
be working on them until
reli.able
of
to narrow down the type of
scientists
research
for
r epresents
Scripps
"Ho\,vever, just
child
Beutler
significant
involved
gene mutation
crinic.
bone marrow transplantation
rate,
also
form
1iver,
would have to be considered
that
Sam and
From an amniocentesis,
second child
a one-year-old
Although
is
the
an NIH
the
Disease,
Gaucher's
wOUId be a relatively
serious
mortality
What
of scripps
in
of
he says.
as having
involvement.
with
tested
program at
a second child.
it
a second case,
prognosis
child
with
that
who were
supported
prediction
how the
Research center
determine
!l^^
good prognosis,"
Health)
a
of
patients
affected
(National
'One
examples
would have been a
We could have found 60 patients,
the year 2001,u he notes.
a f ew hours. "
}tORE
but we'd
"Now we can get
Page 3 --
Gaucherrs Disease
He credits
modern DNA technology,
( P C R ), w h i c h a 1 l - o w e d t h e
Polymerase Chain Reaction
the
to
development of
the
the genes in nany people in a matter
study
of hours,
such as
researchers
rather
than
months.
Of
47 patients
the
determined
to
disorder,
and
that
of
one of
mentioned
have a mild
three
the
form of
the
three
severely
asymptomatic '
wiLh
and iower platelet
early
the
in
abnormal
life
liver
The authors
died
at
the
note
age
and lung disease.
mild
remaining
22 were
22 had a moderate
patients
affected
with
with
and
liver
disease,
the
article,
disease,
eight
14 experiencing
were entirely
enlarged
spleens
count.
patients
The
of
patients
22
The Lancet
were diagnosed as severe.
32 due to complications
Of
in
moderate
had
disease
significant
function
tests,
were
usually
enlargement
significant
of
diagnosed
the
1iver,
bone involvement,
and
many had undergone spJ-enectomy.
Of
the
severe
plus
involvement,
Additional
Israel
to
Sorge,
authors
of Scripps
to
continue
M.D.,
of
fellow
the
his
an adjunct
Clinic
manifestations
severe liver
I'1.D., a post-doctoral
has nov/ returned
cases,
included
disease.
The Lancet
at
Scripps
article
research
associate
Clinic
for
pronounceo
Go
Shey.
in
Disease;
Zimran,
years,
who
Jerusalem,
and Joseph
the Research Institute
of the La Jolla
++Jr
ltlltt
three
Center
on Gaucher's
member of
Ari
include
Shaare Zedek lledical
and president
Note: Gaucher is
and l-unq
renal
firm
Stratagene.