Real-Life Communication
You are a pharmacologist interested in a genetic disorder in humans
called phenylketonuria (PKU). You've been doing research on this condition's
effects on people, and possible methods of prevention.
Because of your
work, you've been asked to present your work at a pharmacology conference
in New York.
"Particularly at the master's and PhD level, you have
to present your own work to others," says pharmacologist James Hammond. "If
you're working in the academic world, you will end up teaching and you obviously
need great communication skills to do that."
Reading and writing skills
are important in a research-oriented career. "In order to maintain your career,
you have to publish your work," he adds.
At this conference, you begin
by explaining the genetic disorder PKU because it isn't a condition many people
are familiar with. This is what you might tell the crowd:
PKU
is an inherited metabolic disorder associated with mental retardation. It
is caused by a congenital fault in metabolizing the amino acid phenylalanine.
This results in an accumulation in the blood and urine. It is this excess
of phenylalanine (or one of its metabolites) which is thought to inhibit the
process needed for normal brain development.
Untreated or late diagnosis
of PKU may be expected to cause reduced intelligence in 95 percent of cases.
However, early detection via neonatal screening to identify infants with inborn
errors of phenylalanine metabolism can be successful in initiating the appropriate
dietary program so that mental impairment can be prevented. Dietary management
initially requires the use of low phenylalanine formula.
It's estimated
that one person in 60 carries the mutant gene, and the prevalence worldwide
is approximately one in 12,000 to 15,000 newborns. Prevalence levels vary
within geographic regions and among ethnic groups.
Where screening
programs do not exist or have broken down due to political and social disruption,
economic destabilization or through the effect of war, untreated cases are
dramatically rising. This is the case in numerous former Eastern Bloc countries
as well as developing countries.
A significant burden, both economic
and social, could be avoided by the introduction of an effective screening
program. Studies have been made on the cost-effectiveness of various strategies
for newborn screening and all suggest a large saving to society in general
terms from such programs.
(Description excerpted from the World Health
Organization pages with permission)
Before you go on to
discuss some of your prevention ideas, you ask the crowd if they have any
questions about the condition. These are some of the questions asked by your
fellow scientists:
- What causes PKU?
- What can happen in undiagnosed cases or cases that are diagnosed late?
- How can PKU be prevented in babies that exhibit the inborn metabolic error?
- How many people are carriers of the mutant gene?