Geneticist Seeking Answers to Birth Defects Mysteries

              The Shreveport Times
THE SHREVEPORT TIMES Sunday, July 12, 1970
Metropolitan
News
Section C, Page Ona
Geneticist Seeking Answers
To Birth Defects Mysteries
By Margaret Martin
Times Medical Writer
"We have a mongoloid child. What are
our chances of having others?"
"We are planning to get married.
There is a history of cystic fibrosis in our
family. Will our children be affected?"
"Our concern lies in the future of our
normal children. Are they likely to have
offspring with the abnormality of our
youngest child?"
These are the questions genetic
counselors try to answer.
And, this fall, Ark-La-Tex residents will
be seeking answers to similar questions at
the Birth Defects and Genetic Counseling
Center of Louisiana State University
Medical School at Shreveport.
In charge of the center is Dr. Richard
C. Juberg, a geneticist who comes to
Shreveport from Portland, Ore., where he
was associate professor of medical
genetics and pediatrics and in the
Crippled Children's Division of the
University of Oregon.
The center will be open for business
this fail in an office being renovated at
the LSU-owned Linwood Apartment com-plex,
according to Dr. Joseph Little, head
of the pediatrics department.
Genetic counseling isn't the only or
even the main function of the center, says
Dr. Jugert, but he considers it one of the
most important.
A childless couple comes to ask why
they haven't had children after several
years of marriage. In a simple laboratory
procedure, an experienced cytologist can
determine in a matter of minutes the
likelihood of a genetic oagin for infertili-ty.
A couple considering marriage and are
already related wonder about the effects
this may have on their children.
The geneticist might be asked to
estimate racial ancestry, or to establish
the most likely diagnosis in twins —
identical or fraternal, or he may serve as
a medical legal consultant for the deter-mination
of paternal identity.
For whatever reason a couple comes to
the genetic counselor, Dr. Juberg will
take an exhaustive family history.
The couple is examined, sometimes
blood samples are taken and at times
chromosomes are analyzed and evaluated.
From the studies, the geneticists gives
the couple facts on the particular problem.
Dr. Juberg emphasized that the role of
genetics counselor ("and, I don't really
like that word counselor. Use provider of
information.") is to advise.
"We tell them the facts and let them
make up their own mind about having
children," he explained.
There are three major accomplish-ments
of such counseling, according to
Dr. Juberg: 1. Establish what is known
and what isn't, to confirm a few
impressions, and to dispel many others.
Then, regardless of what risk figure is
eventually quoted, at least it represents
something reasonably exact and it has
come from a reliable source. 2. An
attempt to separate what is genetic from
that which is not genetic. 3. To correct
misinformation, dispel fear and absolve
guilt feelings.
Three other areas which the birth
defects center will be concerned with are
investigative, diagnostic and threapeutic.
In the diagnostic process, the genetist
will be "defining the birth defects in any
patient referred to the clinic."
Role of Adviser
The physician examines the patient to
see if he has a known defect.
He does this prognostically, "to let the
parents know what the future holds for
the person," as well as genetically "for
they may wonder the heritability of the
specific defect and whether their future
children will be similalry affected."
Nor will the geneticist make the
studies all by himself. Dr. Juberg stressed
the need for other specialities in coming
to a diagnoses, including the radiologist,
urologist and the gynecologist.
In the rehabilitative phase, "we will
advise the patient's physician on methods
which can be used to correct the defect,
medically or surgically," in an effort to
"make a useful citizen out of the person,
to try to make his life as pleasant as long
as we can."
Active in the therapeutic phase of the
Brith Defects Center will be the surgeon
who can mend the cleft palate or the
speech therapist who will aid the patient
in correcting his sj>eech.
The aspect of the center which will
affect generations of unborn children and
their children is the investigative aspect.
Dr. Juberg is especially interested in
the research of population genetics.
In his laboratory, Dr. Juberg will
attempt to "determine the cause of birth
defects."
"And," he added, "ultimately, we
would like to prevent birth defects."
In studying population genetics, the
researchist will look at various causative
factors in defects, such as environment
and heredity.
"Some of the defects follow ordinary
laws of genetics.
"But is it becoming increasingly
apparent that many birth defects which
are congenital malformations to some
extent are polygenic, that is, several
genes contribute to the causation," he
added.
Included among those defects caused
by polygenes are the cleft palate and
congential dislocation of the hip.
Generally these types of gene defects
don't follow the ordinary path of
inheritance, he said.
"We will use population genetics to
describe the causation and ultimately w
would like to prevent birth defects," he
added.
Dr. Juberg left academic medicine for
genetics 10 years ago, "When one of my
professors at the University of Chicago
said the field was going to be much more
important in the next few years."
"He cited the diminishing importance
of infectious diseases and suggested I
consider taking a course in genetics. I
did," said Dr. Jubrg.
, Dr. Jugerg, 40, received the Ph.D. and
the M. S. in human genetics and the M. D.
from the University of Michigan and the
B. A. from Carleton College, Northfield,
Minn.
He interned at Charity Hospital, New
Orleans, and took his residency in
pediatrics at Tulane University, Charity
Hospital and the University of Chicago
Clinic.
He served as a post doctoral Fellow of
Arthritis and Rheumatism Foundation,
LaRabida-University of Chicago-Sanitari-um,
and was a postdoctoral Fellotw of the
U.S. Public Health Service at the
University of Michigan. He also served as
assistant professor of pediatrics at West
Virginia University.
He is a member of numerous organiza-tions,
including the American Society of
Human Genetics, the American Eugenics
Society, and the Wester Society for
Pediatrics Research.
He received a $27,000 grant from the
Appalachian Laboratory for Occupational
Respiratory Disease of the Institute for
Environmental Health Sciences of the
National Instiutes of Health for "A
Genetic Evaluation of Bituminous Coal
Miners."
Dr. Juber has published in numerous
professional journals.
He and his wife, the former Betty Lou
Eisemann, have five children.
Genetic Counseling will be a part of the program of the Birth Defects and
Genetic Counseling Center of Louisiana State University Medical School
at Shreveport. Dr. Richard C. Juberg draws a diagram as he discusses the
center with Mrs. H. F. Falbaum, president of the Junior League of
Shreveport. The League has donated $5,000 to the center, which will
open this fall. (Times Photo by Langston McEachern)