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Alan K. Percy has spent decades investigating
Rett syndrome.
From the Development Office
Percy has a rare-disease grant proposal in the works to
study the natural history of the disorder. “The only way we
can do that is to follow large numbers of girls and women
over time to see how they mature,” he says. “Then we’ll
have some kind of composite information. . . . And if we
collect a significant number of girls with each of those
mutations, perhaps we can make inferences about what one
mutation does versus another.”
UAB’s database contains information on more than
150 girls, in addition to more than 300 in the database
Percy started during his time at the Baylor College of
Medicine. “The goal of this natural-history study, which
is being conducted between the two locations, is to follow
1,000 girls,” he says.
“Our costs are minimized by the fact that the clinic visits
are free—the families simply have to get here,” Percy
explains. “We will see girls up to age 12 twice a year, and over
age 12 once a year. We’re not trying to become the physicians
for these girls—they’ll remain with their own doctors, wherever
they are. We just want to have the information.”
These efforts have applications beyond research. The work
is proving to be an invaluable resource for families, Percy says,
“because we’ve gathered things from our own experience as
to how to approach various aspects of care.”
Families need all the help they can get. Girls with Rett
syndrome are classified as “total-care,” meaning they need
lifelong assistance with everyday concerns such as feeding,
transportation, and hygiene; they also experience a higher
incidence of health problems ranging from constipation
and gastric reflux to scoliosis so severe it requires surgery.
“We’ve learned a great deal about that,” Percy says. “So
there are aspects of this disorder for which we’ve become
a resource for people all over the country.”
For more information on how you can contribute to
the efforts of the Sparks Clinics Rett Syndrome Clinic,
please contact Jennifer Philpot in the Development Office
at (205) 975-7298, or see the envelope enclosed in this
issue. In addition, to learn more about the work being
done in the clinic, please visit its Web site at
[www.circ.uab.edu/Sparks/Rett/index.html].
PROGRAMS WORTH
SUPPORTING:
Division of Orthopaedic Surgery
By Russ Willcutt
Knees are necessary. That’s why research being
conducted in the Division of Orthopaedic Surgery
is so important. Not only are they working to
design better artificial-knee mechanisms, they’re
testing those that have been in use for some time,
and then removed, to examine the wear and tear
they’ve undergone—all in an attempt to provide
better future materials and designs.
“We’re working with the Department of
Biomedical Engineering both to design new totalknee
replacement mechanisms, along with other
components, and to examine those we’ve retrieved
through replacement procedures—known in the
orthopedic community as ‘device retrieval and analysis,’
” says Jack Lemons, M.S., Ph.D., who is the
director of laboratory surgical research for the
22
Far left: Jack Lemons.
Left: The orthopaedic
surgery division’s analysis
of wear and tear on
existing artificial knee
mechanisms will help
engineers design
stronger, more durable
joints for elderly patients.
Division of Orthopaedic Surgery in the School of
Medicine and Prosthodontics and Biomaterials in the
School of Dentistry. “We receive about 400 devices
each year, and we rely on residents and graduate students
to perform the majority of the analyses.”
The program is mostly funded internally at this
point, with additional funds provided by the National
Institutes of Health (NIH)—but more help is needed.
“While we need stipends for the students and
money to cover the costs of materials, what we need
more than anything is to be able to purchase new
equipment and to refurbish our labs,” Lemons says.
He adds that he has hopes of gaining new laboratory
space in the Shelby Building once it’s completed,
but there is still the matter of the new equipment
that will be needed to continue the division’s
research and achieve successful outcomes.
“To re-outfit our current facilities, we’d need
something along the lines of half a million to a million
dollars,” he says. “The various micro- and nanohardness
machines, for instance, can cost anywhere
from $30,000 to $250,000, but the return on that
investment can be quite substantial.”
While these devices are sometimes used to aid
trauma victims or younger individuals afflicted
with osteoarthritis, the vast majority of the patients
who will benefit from the division’s research findings
are elderly. “We’re constantly looking to the
NIH and the National Science Foundation for
funding,” Lemons says. “But we also feel that there
might be members of the community who would
be interested in furthering our efforts, too.”
To learn more about contributing to this worthy
cause, including naming opportunities, contact
Jeannie Horton at (205) 325-8660, or see the
envelope enclosed in this issue. In addition, to
learn more about the work being done in the division,
please visit its Web site at [main.uab.edu/
uasom/2/show.asp?durki=23738].