Thirteen-year-old Sofia Pauca, assigned to do a science project for school, pursued research on autism. Ultimately, her projects would propel her to the semi-finals of a national science fair.
Teen researcher seeks autism treatment
Posted May 2, 2013, by Lincoln Pennington
Riding the school bus one day in sixth grade, Sofia Pauca saw a billboard that said a child is diagnosed with autism every 20 seconds. The statistic stuck with her. She wanted to do something about it.
So when assigned to do a science fair project that year, Sofia decided to pursue an independent research project. Her research would eventually lead her to become a regular at a lab at Wake Forest University, to spend hours spent monitoring fruit flies as they groomed themselves, and to test a potential treatment for autism. Ultimately, her project would propel her to the semi-finals of a national science fair.
The inspiration
Sofia, now 13, has been familiar since childhood with genetic disorders. Sofia’s little brother, Victor, was diagnosed at an early age with Pitt Hopkins Syndrome, a rare genetic condition that affects motor skills and overall development.
Sofia, now 13, has been familiar since childhood with genetic disorders. Sofia’s little brother, Victor, was diagnosed at an early age with Pitt Hopkins Syndrome, a rare genetic condition that affects motor skills and overall development.
“He has always been my little inspiration,” Sofia said.
At Hanes Magnet School in Winston-Salem, N.C., where Sofia is an eighth-grader, the STEM coordinator, Scarlett Mooney, organizes a “STEM night” each year.
“I kind of joke that it is a science fair on steroids,” Mooney said. The STEM Night pushes students to take a step further than a traditional science project. Mooney encourages kids to go beyond the basics of the scientific method and to find a professional mentor to help them.
To find a mentor for a STEM Night project on autism, Sofia talked to her father, an associate professor in the computer science department at Wake Forest University in Winston-Salem. Paúl Pauca contacted his colleague, Bill Conner, a biology professor, and asked if he’d be willing to coach her during the project. Conner readily agreed to help, as his research matched well with her interests.
The assignment
Before meeting Sofia, Bill Conner was working on a genetic modeling project in fruit flies with a focus on the dFMR1 gene, which is similar to a gene in humans called FMR1. Mutated versions of the FMR1 gene may be linked to autism.
Before meeting Sofia, Bill Conner was working on a genetic modeling project in fruit flies with a focus on the dFMR1 gene, which is similar to a gene in humans called FMR1. Mutated versions of the FMR1 gene may be linked to autism.
Conner’s role in Sofia’s project was clear, though. He was to mentor and guide her through her research. He’d provide a space and resource and answer any questions she had. But it was first and foremost Sofia’s project.
On the first day, he provided about 30 minutes of background on the topic before handing her two vials of fruit flies. One vial contained typical fruit flies. The other held flies that carried a mutated dFMR1 gene.
Conner asked Sofia to answer one simple question: How do they behave?
Sofia took the vials home to observe and draw conclusions.
The research
When Sofia reported back, Conner told her to create 10 different strategies that she could easily use to test and measure the flies’ behaviors. She just took it from there, Conner said.
When Sofia reported back, Conner told her to create 10 different strategies that she could easily use to test and measure the flies’ behaviors. She just took it from there, Conner said.
“I was amazed by how much depth she took with the research,” Conner said. After developing her strategy, Sofia reported in periodically, but Conner said his guidance was minor.
Sofia spent her sixth grade year observing the flies’ sensitivity to light, their motor coordination and their repetitive behaviors.
She looked at the process used to clean themselves. The flies have a very specific order for doing this, Sofia said.
She found that the flies with a mutated dFMR1 gene would often get trapped in one part of this cycle and be unable to finish the cleaning process. Sofia said this is a similar problem for kids on the autism spectrum, as they get stuck doing one thing repetitively in the middle of an activity.
Throughout the process, Sofia had access to Conner’s lab just like an undergraduate student would. Sofia interacted with undergraduate students by sharing ideas, listening to their research and presenting her own.
“She performed at a higher level than some of the undergraduate research students,” Conner said.
Through this project, she won first place at the 2012 N.C. Science and Engineering Fair in Junior Biological Science B for her seventh grade project. Both her sixth and seventh projects qualified her to be one of 300 national semi-finalists in the Broadcom National Science Fair Competition in 2011 and 2012, respectively.
A potential treatment
In seventh grade, Sofia decided that she wanted to conduct a “drug rescue” that could help the flies with a mutated gene. She used a drug called MPEP, which has been shown to improve autism symptoms. She gave the flies the drug with their food from birth, and she found that it improved behavior in fruit flies as well.
In seventh grade, Sofia decided that she wanted to conduct a “drug rescue” that could help the flies with a mutated gene. She used a drug called MPEP, which has been shown to improve autism symptoms. She gave the flies the drug with their food from birth, and she found that it improved behavior in fruit flies as well.
As Sofia heads into high school, she is still deciding what to investigate next, but she knows that she will continue to do research. She said that she would be interested in looking more at Pitt Hopkins Syndrome, as she connect her research back to her inspiration: Victor.
Sofia feels confident that she will continue to work in the lab when she grows up. Her dream is to be a geneticist, but her favorite part of the research is writing about it.
No matter what, there’s probably a fair chance this won’t be the last time you see Sofia Pauca’s name in print.
