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NEWS
2008 med school class trying to start lecture series
HUNTINGTON -- The Marshall University medical school class of 2008 doesn't want to just leave an impression. They want to help others who follow them as well.
The class is trying to raise $15,000 for an endowment that would create an annual lecture series, bringing in experts on rare pediatric diseases and disorders.
Senior Rob Gabordi was instrumental in the project, bringing in genetics expert Dr. Marybeth Hummel on Friday to talk about Rett Syndrome in the first lecture of what the class hopes will become a series.
Gabordi said his sister was born with the disorder, and two other members of the 2008 class also had close relatives with rare disorders. That led them to attempt to establish the lecture series.
"It kind of touched us," Gabordi said. "It was kind of a personal thing."
Hummel talked specifically about Rett Syndrome, which was first discovered in 1965 when Austrian physician Andreas Rett noticed two unrelated children in his waiting room wringing their hands excessively.
Rett published a paper on his findings, but it was not until 1983 that those findings would come to national attention, after a group of European physicians came together to discuss patients with similar problems, Hummel said.
The hand-wringing is actually a sign that the children are beginning to lose proper function of their arms, Hummel said. Children who have been normal for seven to 18 months of their young lives will begin to revert to characteristics resembling autism and may even suffer seizures.
The genetic mutation that causes the disorder manifests itself as Rett Syndrome in females, Hummel said, with most males suffering from the mutation dying at birth. Males born with the genetic disorder do not develop Rett's, she said, but tend to become severely bipolar or even schizophrenic or suffer from infantile brain disease. Most die before they are 2 years old.
Hummel said it is important for medical students to learn about these and other rare disorders so they can make proper diagnoses once they become physicians.
"This is why you sit in audiences like this ... to expand your repertoire," she said. "If you don't, you're going to misdiagnose someone."
Gabordi agreed that was the aim of the lecture series.
"It will benefit the school of medicine and, really, all the families of the community," he said.
The class of 2008 made its first step in raising the money for the endowment before Friday's lecture, receiving $1,000 from the university's Students In Neurology program.
Anyone wanting more information about the Class of 2008 Endowment can contact Gabordi at (304) 634-6861 or e-mail Gabordi1@marshall.edu.