xt7fbg2hbb35 https://exploreuk.uky.edu/dips/xt7fbg2hbb35/data/mets.xml University of Kentucky. Office of the Vice President for Research and Graduate Studies Kentucky University of Kentucky. Office of the Vice President for Research and Graduate Studies 1982 volumes. Call Number: LD2762.9 .K38c. Accession Number: 2018ua049 journals LD2762.9 .K38c English Office of the Vice President for Research and Graduate Studies  Contact the Special Collections Research Center for information regarding rights and use of this collection University of Kentucky Odyssey Magazine Research -- Kentucky -- Periodicals Education -- Research -- Periodicals Research -- Kentucky Odyssey: The Magazine of University of Kentucky Research, Fall 1982 text images Odyssey: The Magazine of University of Kentucky Research, Fall 1982 1982 1982 2026 true xt7fbg2hbb35 section xt7fbg2hbb35  

 Cover photo:

One of a series of torsos by UK artist John
Tuska is formed with hand-made paper
and then covered with graphite. More
about Tuska's work can be found in the
Odyssey article entitled From Rags To
Artistic Richness.

University of Kentucky Research
Foundafion

Kinkead Hall, University of Kentucky

(0057),

Lexington, Kentucky 40506

Administration 258—5766

James Y. McDonald, Executive Director

Wesley B. Leach, Ph.D., Associate
Executive Director

Beverly Isaacs, Staff Assistant

William D. Ehmann, Ph.D., Associate
Dean for Research

Val Pochay, Special Assistant

Barbara Coleman, Staff Assistant

Computer Services Office 258—4666

Edward Churney, Manager
Duncan Gardiner, Programmer Trainee
Jeannie Taylor, Programmer Trainee

Publications Office 258-2861

Susan H. Donohew, Manager/ Editor

Tawny R. Acker, Graduate Assistant/
Staff Writer

Anne M. Coke, Publications
Assistant/ Staff Assistant

Robin Barnes, Student Intern

Program Development Division
258-2861

William F. Schweri, Head/Senior
Professional Associate

Judy Beck, Staff Assistant

Margot Duysen, Professional Associate l

Gerald Goldberger, Ph.D., Senior
Professional Associate

Mimi Meehan, Staff Assistant

Ada Sue Selwitz, Professional Associate

111

Andy Seybert, Ph.D., Faculty Associate

Gail Wolford, Graduate Associate

Proposal Preparation Rm new Divison
258-2923

Ted Waldo, Director

Penny Allen, Proposal Preparation
Specialist

Pat Kirkpatrick, Staff Assistant

Fred B. Mesler, Contract Officer

Wilma Pofahl, Staff Assistant

R. Scott Seymour, Proposal Preparation

Specialist

Project Administration Division
258—4660

Jack Supplee, Director

Susan Aylward, Project Administrator

Deborah Davis, Project Administrator

Shawna Dixon, Staff Assistant

George Dundon, Jr., Project
Administrator

Kathy Wells, Staff Assistant

 

 Odyssey is a magazine published twice
yearly by the University of Kentucky
Research Foundation under the auspices
of the Dean of the Graduate School. Each
issue of Odyssey describes only a few of
the many University of Kentucky research
projects underway in a variety of fields.

Odyssey replaces the traditional
U.K.R.F. annual report.

Requests for permission to reprint
material and readers' comments regarding
Odyssey are welcome and should be sent
to the Editor, Publications Office,
University of Kentucky Research
Foundation, University of Kentucky,
(0057), Lexington, Kentucky 40506,
Phone 606—258—2861.

© University of Kentucky Research
Foundation, 1982

Editor: Susan H. Donohew

Designer: Iim Foose

Writers: Tawny R. Acker, Maria Braden,
Michael I. Kirkhorn, Betty Tevis
Publications Assistant: Anne M. Coke
Photographer: Robin Barnes

‘.’ E

University Archives
Margaret l. King Library - North
Unzversity of Kentucky
Lciir :‘Lsn, Kentucky 40506

E

 

The Diagnostic Pursuits of a Dysmorphologist

 

Searching for Biological Secrets Among
The Odious Slug and the Lowly Fruit Fly

 

From Rags to Artistic Richness

 

Drugs: Desirable & Undesirable
A Prescription for Success?

 

The Homogenization of Appalachia

 

A Question of Mind Over Body: Can Humans
Learn to Control Their Immune Responses?

 

Collaboration at the Boundary

 

Directory

 

 

  

 (

“(“3 b.

—w_-;

THE DIAGNOSTIC PUPSUWS OF A

DVSMOPPHOLOGlST

On his way to one of the genetic
counselling clinics which he established in
six Kentucky towns, Dr. Bryan Hall
studied photographs of a deformed
stillborn infant. In a few hours he would
talk with the parents. They would want
to know what disease had caused the
death of this child and of two others,
previously stillborn. The diagnosis would
not be easy. Hunched in the back seat of
the compact car, driven by genetic
counselor Barbara Bowles, Hall reread
the case file and looked again at the
distressing photographs.

"Getting to see the pictures is very
informative," he frowned. “However,
rather than decrease the possible number
of disorders which might be present here,
the photos suggest even more."

With impressive
accuracy he is able to
diagnose common
and rare diseases by
looking at patients.
Sometimes the
symptoms are
obvious, other times
almost undetectable—
“a crease in the
wrong place, a hair
pattern not where it

should be. "
—

A 43 year-old Kentucky physician
recently returned from California,
associate professor of pediatrics at the
University of Kentucky College of
Medicine, Hall has another more precise
identity—he is one of the nation’s few

3

Dr. Bryan Hall

dysmorphologists, expert at diagnosing
genetically related disease from physical
abnormalities. With impressive accuracy
he is able to diagnose common and rare
diseases by looking at patients.
Sometimes the symptoms are obvious,
other times almost undetectable—“a crease
in the wrong place, a hair pattern not
where it should be.” Once he makes a
diagnosis, Hall explains the disease to
parents or other relatives in counselling
sessions which sometimes are painfully
difficult for everyone.

"It’s a tremendous responsibility for a
family to deal with genetic counselling,"
Hall said. “It has its advantages, but also
its disadvantages. One couple will come
in for counselling and you will have to
say to them, ’This is a severe genetic
disorder. You have a 25 percent chance of
mental retardation.’ The couple will say,
’That’s it—no more children.‘ Another
couple with potentially the same disorder
will never bother with counselling and
have two perfectly normal children
because they were lucky. Like the other
couple, they had a 75 percent chance for
normal children.

”Under certain circumstances,
counselling can be a very negative factor.
A family is referred for counselling,
comes in and is totally devastated by the
information. They don’t know what to do

  

with it and they wish they hadn't heard
it. That's why we prefer counselling to be
the family’s idea. Counselling is not
always as beneficial as we think it is. It
always requires sensitivity, knowledge
and the right kind of follow-up
counselling.”

Hall’s reflections flow from 17 years of
experience, much of that time in
California, where as associate director of
the Birth Defects Center at the University
of California—San Francisco, he operated
13 outreach clinics. With a federal grant
and assistance from the Commonwealth
he is setting up a similar network of
genetic counselling clinics in Kentucky.

After an hour's drive, Hall
accompanied by Bowles, and medical
student Les Beisecker, is met at the
entrance of a county health department
building by two public health nurses.

A few minutes later Hall is chatting
with an amiable local woman whose
granddaughter has just returned to the
town after corrective leg surgery at an
eastern hospital. The woman's normal
sons are afraid to marry because their
children could inherit the disease that
caused the girls problem. She has
photographs of members of her family
and information suggesting to Hall, as he
works through a careful generational

 

 “pedigree” of the family, that inbreeding
has occurred. Typically, inbreeding is not
flagrant. In an established community

In an established
community where
families have
remained for
generations, a
marriage 75 years
ago between a man
and a woman who
did not know they
were cousins could
have produced in
their offspring or in
distant descendants a
deformed infant.

where families have remained for
generations, a marriage 75 years ago
between a man and a woman who did
not know they were cousins could have
produced in their offspring or in distant
descendants a deformed infant. Without
the sort of detection Hall provides, the
cause might remain a mystery and a
continual source of anxiety.

As Hall completes the charted family
history, the woman observes that defects
in other members of the family had been
attributed to Polio. ”Polio got blamed for
a lot of things,” Hall replies. “It deserved
to get blamed, but sometimes that
diagnosis was wrong.” Putting aside his
pencil, he studies the pedigree and begins
to explain to the woman how normal and
abnormal characteristics are inherited
through dominant and recessive genes.

”You may carry a single abnormal
recessive gene and it will not adversely
affect your health or physical features,"
he tells her. “But if you mate with
someone who has the same abnormal
recessive gene, 25 percent of your
offspring are at risk of getting both
recessive genes and manifesting the
disease.“ In one obvious way her sons

11

can reduce the risk. If they seek wives
outside the community, Hall says, they
will dramatically reduce the likelihood of
their combining the same abnormal
recessive genes. Seemingly relieved, the
woman gathers her family photographs—
except for a few Hall keeps for his file—
and leaves.

In a way, Hall’s career began with
some casual advice as to the value of
photographs of patients for a young
physician. Hall’s father, Paintsville
pediatrician Dr. Lon C. Hall, stimulated
his son’s interest in the outer
manifestation of disease by observing that
he wished he had kept photographic files
of his patients.

”When I was getting my pediatric
training in Louisville,” Hall said, “I used
this old camera to take pictures of
interesting patients. It didn't focus well up
close, but from a distance it was fine. The
only patients that you didn’t have to have
close, detailed shots of were those with
gross physical abnormalities—people with
birth defects."

Noticing that his medical colleagues
knew little about birth defects or their
consequences as the children grew older,
Hall sharpened his abilities. By 1967, as a
first year pediatric resident, he was the
in-house expert on birth defects at
Louisville Children’s Hospital.

“Anyone who does something that
other people do not do and does it well
has a tremendous ego feedback system
created," Hall said. “As I was talking
with families and doing counselling, I
found the families dearly appreciated the
information that had been so hard to
obtain. Then, as I was able to diagnose
these rare disorders, my colleagues would
ask me for unofficial consults.”

 

 

From Louisville Children's Hospital he
proceeded to a fellowship at Great
Ormond Street Hospital for Sick Children
in London, then to residency with the
Wessex Regional Hospital Board in
England, and in 1968 to a staff
pediatrician’s position at David Grant
US. Air Force Hospital in California.
There he started a genetics clinic. In 1970
he joined the Dysmorphology Unit at the '
University of Washington School of
Medicine's Department of Pediatrics. At
Washington he found a mentor who ,
profoundly influenced his life.

”When I decided on academic medicine
and on genetics in particular I went to
Washington on a fellowship," Hall
recalled. “At that time most genetic
research was biochemical and I didn't
want that orientation. I was able to do
purely clinical work with Dr. (David W.)
Smith. He was a fantastic gentleman and
a scholar. He combined simplicity and
science like no other man I have known.”

Two years later Dr. Hall moved to UC-
San Francisco, where he remained for
nine years—”an extremely busy and very
exciting time." When he felt he was
“running out of steam” he took a
sabbatical study leave with Dr. lurgen
Spranger in Germany. Back in California
to finish training some of his genetic
Fellows, he realized that “the next ten
years would be like the previous ten. I
needed a new challenge." So after nine
years of helping run the largest genetic
service in the US, he left California for
Kentucky.

Kentucky needed the genetic services
Hall could provide, but he also had
personal reasons for responding to UK’s
job offer: Simply put, he found he was
one of those Kentuckians who inevitably
return. “When I think about it,” he said,
”I see I always felt guilty about leaving.
My Kentucky upbringing prepared me for
this type of work because I learned to
talk on any level with sincerity, honesty
and concern."

One of the public health nurses
introduces Hall to the couple whose
infants have been stillborn. Hall knows
that this couple’s future children will risk
a “clearly lethal genetic disorder.”
Without destroying hope he must explain
to them their prospects as parents. They
recount their experiences, then listen to
his explanation.

 

 (D

Hall tells the couple that he is not yet
able to provide a diagnosis, but in spite
of their bad luck they theoretically have a
75 percent chance for the birth of a
normal child. “We don’t know what is
wrong with your babies—something,"
Hall says. ”We don't know what it is.
Somewhere down the line we're going to
know what's wrong. It will be a slow
process.” He offers a grim assurance—“It
doesn't look like this situation is
compatible with life for the baby”—and
carefully raises the question of
termination of the pregnancy if the
disorder is detected in the fetus: ”To take
it back one step further, I have no idea
how you feel about terminating or
aborting the pregnancy . . . In this
way, gently and sympathetically, he
suggests that the shocking discouragement
they have experienced need not prevent
parenthood.

Understandably, the couple wants to
know why they were not warned by
other physicians of the risk they faced.
”A lot of doctors are not trained in
genetics," Hall explains. “Genetics only
became an area of medicine from the
standpoint of training physicians in the
last ten years.“ They seem satisfied with
the explanation and indicate their
willingness to undergo testing to
determine the nature of their problem.

A few days later Hall was delivering
his weekly diagnostic slide-show at a
lunch hour meeting of pediatric interns
and residents at the UK Medical Center.
The teaching he does in the Medical
Center is highly valued: He received the
Pediatric Faculty Teaching Award for
1981—1982.

Each of his slides showed some
abnormality or combination of
abnormalities indicating the presence of
malformations. For pediatricians the
identification of features—often almost
unnoticeable, sometimes masked by
other, more evident abnormalities—is a
crucial skill. The failure to recognize these
symptoms could mean unnecessary
physical impairment or death for a child.
He showed a photograph of a child whose
unusually formed chest bore an extra
nipple and whose pectoral and shoulder
muscles were underdeveloped. He told the
young pediatricians that this
underdevelopment often was associated
with a poorly developed arm and hand
on the same side.

()7

This piecing together of medical
evidence would be less critical if
laboratory tests could provide
verification, but testing does not always
tell a doctor which syndrome the patient
has. The most powerful microscopes may
show chromosomal abnormalities, but
even magnificaton may fail to reveal the
secrets of the tiny gene. This persisting
uncertainty explains why in his teaching
Hall emphasizes “pursuit”—the intense
analysis of symptoms, tenacious desire
for exact diagnosis. ”You must have great
diagnostic pursuit," he said. ”I could
never tolerate not knowing. I tell my
students that pursuit is as important if
not more important than observation and
factual knowledge.” His students are
grateful. One pediatric intern said the
detailed observations Hall encourages will
help him to “make specific diagnosis
rather than simply describing the patient
as having multiple congenital anomalies.”

 

A vague diagnosis—”multiple
congenital anomalies”—carries with it a
note of dismissal. Hall offered one
example. He has diagnosed, treated, and
counselled in about 10 cases of Pierre
Robin Anomaly. These are children born
with lower jaws which are so small that,
in the fetus, the jaw will not support the
tongue. The tongue falls back,
obstructing closure of the roof of the
mouth, causing cleft palate. At birth the
tongue also covers the breathing passages
a "life threatening" situation. The child's
ears will be low on the neck. The
physician may assume from its ”very
unusual appearance" that it ”is abnormal
all over and may be mentally retarded.”

By recognizing the
symptoms and
understanding the
development of a

child afflicted with

this anomaly, a
physician may start
the child on the path
to normal growth
and health; by failing
to understand the
syndrome, the doctor
may consign the
child to unnecessary
problems and even

death.
_

In fact, if the position of the tongue is
corrected, this supposedly abnormal
child, Hall said, will “grow into a
perfectly normal child, just take off." By
recognizing the symptoms and
understanding the development of a child
afflicted with this anomaly, a physician
may start the child on the path to normal
growth and health; by failing to
understand the syndrome, the doctor may
consign the child to unnecessary problems
and even death.

For all the weighty implications of his
work, Hall remains relaxed and
personable. He is an active researcher
who has published 62 papers, and his
approach to research also is relaxed:
”When I see an interesting situation not
seen before I write that up and publish
it.” It is hard to imagine him working in
a laboratory. Obviously he enjoys caring
for patients, and he brings to these duties
a blend of clinical interest and sympathy.
”You know how interesting people are in
their normal state,” he said. ”Well, they
are even more interesting in their
abnormal state , . . . But I don't define
people as normal or abnormal. I just
think of them as interesting.”

—Michael I. Kirkhorn

 

  

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DAVID PRIOR

SEARCHING FOR BIOLOGICAL
SECRETS AMONG THE
ODIOUS SLUG AND THE
LOWLY FRUIT FLY

University of Kentucky Associate
Professor David I. Prior knows what it's
like to juggle teaching and research, and
he remembers times when he would
squeeze research into the hours after his
children were in bed.

That changed when the 38-year-old
biologist received a five-year Research
Career Development Award from the
National Institutes of Health, one of the
most prestigious grants made to young
researchers.

Prior and UK officials worked out an
arrangement that freed him of teaching
responsibilities and allowed him to devote
more time to his research on how the
brain controls behavior. The grant pays
his salary.

NIH looks at “whether your research is
at the point at which it really needs a
boost,” Prior says. “If you could get out
of the classroom, would it take off?”

Using the slug,
which he personally
finds "odious: the
most offensive
creature ever to
crawl upon the
earth, " Prior hopes
to final out how the
nervous system
controls behavior.
IIIIIIIIIIIIIIIIIIII

Prior not only got out of the
classroom, he got out of the country,
spending a year studying neural control
of terrestrial mollusks in the laboratory of
the distinguished zoologist John Treherne
at Cambridge University in England.

Last year he returned to his own lab in
UK's Research Facility No. 3, equipped
with sophisticated devices for observing,
monitoring and recording the activity of a
specific terrestrial mollusk—the garden
slug.

Using the slug, which he personally
finds ”odious: the most offensive creature
ever to crawl upon the earth,” Prior
hopes to find out how the nervous system
controls behavior.

Most of us know that nerve cells in our
brains control how we move our arms by
causing the muscles to contract. But we
also know that the response to
stimulation varies.

If someone pokes us in the ribs, we
might cry out, or giggle and twitch or
merely jerk away. Why, Prior asks, when
the stimulation is the same, does the
response vary? The same question can be
asked about moods: if someone says
there's a party, one night we might feel
like going and another like staying home.

"We can't analyze ‘mood,’ so we use
less complicated animals. We used to call
them simpler, but they're not simpler.
They have fewer nerve cells, only a few
thousand compared to the millions in the
brain of a cat or a man. And the slugs
brain cells are relatively large, which
makes it easier for researchers to pierce
them with slender glass electrodes.

”Like a cat—or a man—a slug is
capable of associative-type learning.

”Their brains are capable of complex
behavior that we don't usually associate
with that sort of thing,” Prior says. "We
can look at the behavioral response and
ask how that behavior changes."

Prior is studying the slug's water
regulatory behavior, in which each
response is modified to help the mollusk
regulate its water balance. For example, if
a slug’s water level is down, it won't eat
dry food because it loses moisture when it

 

 r
u

fa

ire

em

DUI‘

hen

“9.
an

the

ite
Ne
nd

le, if
eat
ten it

eats. Rehydrate the slug and it will eat. It
will drink when dehydrated, but stop
when its water balance is restored, and it
will close down its breathing hole when
dehydrated to avoid evaporating water
from the lung into the air.

“We understand how the brain detects
dehydration, but we don’t understand
how the nervous system provides signals
to turn on ’thirst,’ ” Prior says. "We may
have a shot at finding out.”

”(Slugs) can serve as a model system
for a broad range of other animals . . . to
varying extents I believe that (what we
find here) will affect water balance in
humans.”

Prior finds it encouraging that after
only three-and-a-half years of research,
he is at the same level as researchers
studying vertebra systems, since that
research is considerably older. All the
data to date indicates that the common
feature in vertebrates and invertebrates is
increased concentration of salt in the
blood, Prior says.

“When I have to justify my research, I
think that I'm adding to our basic
knowledge about life systems—how the
nervous system functions,” he says.
“From that basic body of knowledge
some will go this Way and study aging or
epilepsy or go that way and study
strokes. People will take different
tangents.

"We lay the groundwork, and others
say 'we can apply this.’ ”

Prior began focusing on the neural
control of behavior as a Sloan
Foundation fellow from 1977 to 1981. His
most recent grant from NIH has primarily
meant “more thinking time."

"When you have a three-lecture course,
you’re either giving or preparing for
lecture every day of the week but

    

”0%

, /,
//////4/.

Saturday. You say, ’It's almost 10, I've
got to get there . . . what am I going to
talk about tomorrow . . . I've got three
students to see this afternoon,’ " he says.

“To do research, you have to know
you have all three hours off this morning.
You can do stuff you would ordinarily do
at home or in the library at night.”

It's not that Prior dislikes teaching. In
fact, he finds it “ironic that I have
something that I enjoy that I’m freed of.”

The course he likes best is “Biology for
Poets," his name for the service course
for non—majors, because it is “a truly
spectacular opportunity for the students
and the instructor. Rather than the hard-
core column of stuff you jam into (an
upper-level course), this has a different
goal: to give people some basic concepts
and put them in a palatable form so they
can understand them."

His aim is to encourage students to
think about the world. Without
understanding biology, he says, people
cannot make rational decisions about the
most controversial issues in our society,
such as whether to allow experimentation
with recombinant DNA; whether to
legalize euthanasia; to permit certain birth
control methods; or establish test tube
baby clinics.

“There's a lot going on in the public
arena, and if one has no sense of basic
biological principles . . . without some
understanding of what’s going on . . . one
can't make decisions."

For him, the great scientists are those
who have the flair and creativity to take
their research beyond the collection of
basic scientific observations. Prior tries to
encourage that kind of creativity in his
students.

As a starting place, he doesn't
approach teaching as a matter of
requiring students to memorize a text.
Instead, he wants them to exercise their
curiosity. ”It strikes me that biologists
have an advantage. It’s something
everybody is intrinsically interested in—
how their bodies work.”

Scientists “always keep our eyes open
for potential," he adds, noting that what
begins as a casual observation may
produce valid scientific data.

Prior loves the seashore, but it's much
more than a playground for him. Since
his research involves mollusks, which
include octopuses, squids, snails and
slugs, his summers at Woods Hole,
Massachusetts Marine Biological
Laboratory, provide fertile ground for
observation and experimentation.

Someday he might like to live
elsewhere, perhaps on the coast, but now
he is pleased to be at UK, where his
research facility is ”very good,” and
where he has had the chance, along with
other young scientists, to build the
program in the School of Biological
Sciences.

He has secured generous grant support,
due in no small measure to his ability to
express himself articulately. Drawing on
his own experience in writing successful
grant proposals and his review of a
number of other scientists' proposals, he
says the chief thing is for the principal
investigator to write a proposal “so
anyone can understand it.”

“You can have excellent ideas and be
able to prove them, but if you can't sell
them, you won't get funded.” By the
same token, ”a good writer can’t make it
unless there's good science.”

Prior has demonstrated that he can do

both.

 

 n

Searching

Continued

 

JOHN PAWLS

University of Kentucky's John M.
Rawls did what many Americans who get
to live in France might do: he spent a lot
of time sightseeing, learned a little about
French wines, and he even gained a few
pounds.

But Rawls did something else during his
year abroad that few can imagine: he
learned to clone a gene—the basic unit in
inheritance.

Strasbourg is known for its beautiful
setting in French-German Alsace and for
its cuisine. Few know that the city is also
home of an international research center
where 60-70 scientists each work on a
different aspect of gene cloning.

In his year at the lab, Rawls, assistant
professor in the School of Biological
Sciences, learned recombinant DNA
technology: placing designated genes into
bacteria and viruses, cultivating,
harvesting, and chemically analyzing the
cloned gene.

Aithough the basic technology is fairly
widely used, the advantage to being at
the Laboratoire de Genetique Moleculaire
des Eucaryotes of the Centre Nationale
pour Reserche Scientifique (CNRS) was
that Rawls had “access to all these
people: virtually every technique (of gene
cloning) that might be useful is being
practiced here," he said in a telephone
interview while still in France.

Back in his lab in UK’s No. 3 Research
Facility, Rawls will work on cloning two
other genes in order to use them as tools
to understand the mechanisms of

heredity .

Rawl‘s research has no direct clinical
application. "Curiosity is the
justification," he says. ”The reason I go
into the lab every day is to satisfy my
basic curiosity."

He adds wryiy. "I wouidn’t say
curiosity is an important national
objective." But he says his area of

8

 

Rawls pursues his
basic genetic studies
using the fruit fly—
the same insect that
Lexington native
Thomas Hunt
Morgan worked with
when he discovered
basic genetic
principles more than
a half—century ago.

 
 
 
 
 
 
 
 
  

 

  

 

research is “very basic, and while not
directly applicable to medical, legal or
social objectives, the things that I and
other people discover lead to an
understanding of basic processes like
inheritance.

“My contribution is to the knowledge
of society of itself and of the world
around it."

His research is significant enough that
the National Institutes of Health awarded
him a five-year Research Career
Development Award which pays his
salary and frees him from teaching
responsibilities.

“Its purpose is to enhance the research
potential of promising investigators by
permitting them to spend more time on
research, freeing them from
administrative and teaching
responsibilities that they always have to
deal with," said Maureen Harris, director
of the Research Career Development
Program for the National Institutes of
Arthritis, Diabetes an Digestive and
Kidney Diseases.

"It's a very prestigious award for
promising investigators.”

Now midway through the grant, Rawls
pursues his basic genetic studies using the
fruit fly—the same insect that Lexington
native Thomas Hunt Morgan (for whom
UK's School of Biological Science is
named) worked with when he discovered
basic genetic principles more than a half-
century ago.

Rawls credits Morgan’s description of a
particular fly wing mutation with leading
him into his specific area of research. But
Rawl's approach is far more sophisticated
than Morgan’s could be. Rawls does his
studies at the molecular level, something
not possible in Morgan's day.

Using techniques developed in the last
five years, Rawls analyzes the chemical
nature of the processes of inheritance,
asking how genetic material replicates,
recombines and mutates.

The fruit flies that occasionally escape
from the racks of glass jars and tubes and
flutter about Rawl’s lab look no different
from those that hover over the ripe fruit
at home. What makes them such valuable
experimental subjects?

The processes that
go on with this fly
are essentially
indistinguishable
from what goes on in
humans . . .
—

”The processes that go on with this fly
are essentially indistinguishable from
what goes on in humans and animals, but
they don’t have an easy little wing with
which to dissect biochemical processes,”
Rawls responds.

 

Over the last two years, the 36-year-
old scientist has isolated mutants in order
to study the different steps of a metabolic
pathway or system. He has found that the
pathways consist of different genes
produced in synchrony. What do those
genes have in common that permits them
to be controlled at the same time?

He theorizes that there are regulator
elements which control the activity of the
pathway genes. ”Genes are quite separate
and yet operate in unison, so there must
be signals from some to others."

He uses two approaches. The first,
which he describes as making ”an
educated guess,” involves looking for
mutations of the regulator by looking at
mutations of the fruit fly wing itself. That
is basically the approach used by
Morgan—a systematic process of
observation, description and conclusion.

The second is more complex. Rawls
thinks he has found a biochemical way of
asking the genes in a specific metabolic
pathway, ”what turns you on and off?"
By cloning out certain genes, that is, by
isolating the structure in its pure form, he
says he can use those molecules to “fish
around" for the regulator.

His research has had some intriguing
spin-offs. In doing structural analysis of
mutants, Rawls also has been looking at a
phenomenon that only recently has come
to light—transposable genetic elements.

Scientists have always thought of genes
as being static, unchanging material, but
recent research shows they are part of the
genome, the molecule that contains
genetic information, and that portions of
the DNA—the main carrier of genetic
information actually move around.

“This gives us a different perspective on
mutation," Rawls says. ”Instead of
thinking that mutations are things done
to us by other things (such as X—rays), we
now feel that many and most mutations
are an aberrance of processes that occur
normally within us."

It could be that X-rays and other
stimuli believed to have mutagenic effects
are actually triggering the aberrance
rather than causing the mutation, he said.

Absorbed in his research, Rawls says
he has all but forgotten about teaching.
Yet he