South Burlington High School junior Kelly Xu competed at this year’s Intel International Science and Engineering Fair (ISEF) held mid-May in Phoenix, Ariz. The competition is the world’s largest pre-college science event featuring over 1,800 young scientists selected from more than 80 countries, regions and territories.
Xu’s project, “Evaluation of a rare PMS1 germline variant as a putative hereditary breast cancer risk allele,” first won at the local and state level before advancing to Intel ISEF.
“My project looked at the impact of a clinically seen variant of the gene PMS1 on exon splicing, which is a process by which a final mRNA product is created by having portions, known as introns, cut out, and the remaining portions, known as exons, are put together,” explained Xu. “The bigger picture for this is that only around 50 percent of hereditary breast cancer cases can be attributed to definite mutations, and it was thought that this variant would play a role in the disease.”
Her experiment concluded that the rare variant she investigated did not affect PMS1 mRNA production, to the limit they could detect.
“But this is still very valuable information,” clarified Xu. “It begins to narrow down the potential genetic variants that might be important in hereditary breast cancer.”
“Kelly’s ambition is truly exemplary,” said Xu’s science teacher Nathanial Moore. She independently contacted Dr. Seward at the University of Vermont and then met with him and other researchers in his lab for countless hours to plan and conduct her experiment.
Moore worked with Xu on her 2018 project, “Chromosome Organization and the Effects on Nuclear Shape,” which won a Vermont Principals’ Association Gold Medal and a Naval Science Award.
This year, Seward, an assistant professor in UVM’s Department of Pathology and Laboratory Medicine, and UVM research assistant Hailey Sarausky were Xu’s mentors.
“They were especially impactful on this project,” said Xu. “They helped and supported me throughout the process by generously donating their time and lab space and were there to answer any questions I had. I certainly couldn’t have done it without them.”
Although Xu’s project did not win at Intel ISEF, the rewards were still plentiful.
“It was an honor to attend ISEF and to interact with prestigious judges,” said Xu. “I especially enjoyed getting to know many new people who are equally as passionate about science as I am and being able to connect with peers around the world. Furthermore, all the projects there were incredible, and the experience was very inspirational.”
Xu plans on entering the science competition again next year when she’s a senior.
“Kelly is a bright, enthusiastic student,” said Seward. “She went out of her way to contact me in hopes of gaining a research experience. This motivation and pursuit of knowledge will serve her well as she continues in her academic career.”