Student Wins First Place for Fragile X Syndrome Presentation

Medical student Kaitlin Young recently won first place for her oral presentation on a novel way to diagnose patients with Fragile X Syndrome. She presented her work at the 2014 Pediatric Medical Student Research Forum in Orlando and said the experience further fueled her passion for research.

“I was thrilled. This is the first oral presentation I’ve given based on my work,” said Young, a fourth-year Miller School student with an interest in pediatric neurology.

Fragile X Syndrome is caused by a defect in the FMR1 gene, which causes abnormal development of the brain, among other physical characteristics.

While conventional tests identify the disorder according to a specific number of repeats in the FMR1 region of the X chromosome, Young’s informational presentation showed that not all patients with Fragile X have the chromosomal repeat. In these Fragile X patients, the disorder was attributed to missing segments of a chromosome, known as microdeletion.

“Testing for the microdeletion is essential to proper diagnosis of these patients,” said Young, who was among 80 medical students presenting at the forum, which was sponsored by the Florida Chapter of the American Academy of Pediatrics and the University of Florida Department of Pediatrics.

Young compiled her research as part of her work at the Miller School’s Pathways of Emphasis program. Faculty who have admired her academic and research skill encouraged her to present her work at the conference.

“She conveys a very meaningful and personal connection to translational research, intending to make real change in the lives of children,” said Judy Schaechter, M.D., M.B.A., associate professor of pediatrics and Interim Chair of the Department of Pediatrics.
“To use her own words, her ‘heart is with the patients,’” said Schaechter, adding that “Kaitlin has keen insight into the connections between biological, social and psychological factors, and how they interact for families.”
Young also said that informing future pediatricians of the importance of alternative genetic testing was equally gratifying to her.

“My peers seemed to recognize the importance of performing genetic testing for children with intellectual disabilities and developmental delay,” Young said. “This is a tool that they’ll remember to use as pediatricians in the future.”

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