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August 20, 1976 - Image 10

Resource type:
Text
Publication:
The Detroit Jewish News, 1976-08-20

Disclaimer: Computer generated plain text may have errors. Read more about this.

10 Friday, August 20, 1976

THE DETROIT JEWISH NEWS

Another Jewish Genetic Disease Found; Affects Ashkenazim

WASHINGTON (JTA) —
The Natio-nal Foundation
for Jewish Genetic
Diseases, Inc. and
Hadassah, announced plans
for jointly coordinating
their efforts to combat a

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new genetic disorder that,
at the present time, affects
primarily Ashkenazi Jews.
The announcement was
made by Faye L. Schenk,
chairman of the Hadassah
Medical Organization, at
Hadassah's 62nd annual

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National Convention
meeting at the Washington
Hilton Hotel.
A team of doctors from
Hadassah Hospital in
Jerusalem has been actively
engaged for the past three
years in delineating a new
genetic disorder affecting
Ashkenazi Jewish children.
Cloudy cornea in newborn
babies or young infants is
the earliest clinical sign;
later, toward the end of the
first year of life, psy-
chomotor retardation
becomes apparent.
The disease has been
named Mucolipidosis IV,
based on the appearance of
biopsy material as it
appears under the electron
microscope. The electron
microscopic pictures show
two kinds of abnormal
storage bodies, one similar
to muco-polysaccharide dis-
eases such as the Hurler
and Hunter syndromes, and
the other resembling lipid
storage bodies such as those
found in Tay-Sachs 'disease.
Several other storage dis-
eases show similar ultra-
structural abnormalities
under the electron
microscope and have been
grouped together under the
name of Mucolipidoses. This
one has been called Type IV
because it differs clinically
from all the others.
In addition to cloudy cor-
neas, there are other ocular
and clinical signs. These in-
clude esotropia (sq -uint or
"crossed eyes") and, later in
life, retinal degeneration.
Consequently these patients
have poor visual acuity,
usually no more than coun-
ting fingers at two or three
feet. But most of all, they

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are profoundly retarded.
They are unable to walk
except_ with support, do not
form words, and after some
years, have little or no
awareness of their environ-
ment. By contrast, there are
no skeletal changes, either
obvious or by X-ray, ex-
amination. The oldest
known patient is a 23-year-
old male.
Although the disorder
cannot be treated, and the
carriers (except for those
already having had an
affected child) still cannot
be detected, much can be
done to prevent the birth of
these children in the future,
doctors say. Ashkenazi
Jewish families with
profoundly retarded
children, and cloudy cornea,
who plan to have future
children should be tested.
George Krohn, president
of the National Founda-
tion for Jewish Genetic
Diseases, formed to com-
bat other genetic dis-
orders, announced that the
foundation, which con-
cerns itself with six other
diseases, Dysautonomia,
Dystonia; Tay-Sachs,
Gauchers, Broom's Syn-
drome and Niemann-Pick,
will now include
Mucolipidosis IV as the
seventh. Hadassah and the
Foundation will work
closely together in the
areas of public informa-
tion, referrals , and con-
tinuing research into this
newest genetic disorder,
the two organizations an-
nounced.
Meanwhile, delegates to
the Hadassah convention
heard Dr. Robert I. Levy,
director of the National
Heart, Lung, and Blood
Institute, speak on
research into and preven-
tion of cardiovascular dis-
ease. Dr. Kalman J.
Mann, director-general of
the Hadassah Medical
Organization, joined Dr.
Levy at the podium.

AJ Committee
Issues UN Report

NEW YORK — Efforts
by the United Nations to
help resolve critical human
problems have been con-
sistently undermined by
Arab efforts to turn UN
specialized agencies and
conferences into anti-Israel
platforms, and the recent
UN Conference on Human
Settlements, held in Van-
couver, Canada, last June,
was one more instance of
such counterproductive ef-
forts.
This conclusion highlights
a report on "Politics at
Habitat: United Nations
Conference on Human
Settlement, 1976," which
has just been issued by the
American Jewish •Corn-
mittee.
The report points out that
though the Conference was
supposed to examine all
forms of community life
from the rural village to the
megalopolis, the Arab
states and their sym-
pathizers insisted on the
passage of resolutions
having little or nothing to
do with the subject matter
and which were designed to
single out Israel for attack.

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of the 1976-1977 Israel
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tour major American cities
under the auspices of
Hadassah.

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