For the second straight summer, Olivia DuSold ‘18 is working at the Children’s Hospital of Philadelphia (CHOP). Under Ian Krantz, a pediatrician and clinical geneticist, she is examining the genetics behind Cornelia de Lange syndrome, a developmental disorder that affects from 1 in 10,000 to 1 in 30,000 newborns, per the National Institute of Health. Her Marian E. Koshland Integrated Natural Science Center (KINSC)-funded internship is expanding her knowledge in a discipline that’s new to her.

“Researchers have identified the kinds of mutations that can cause the disorder, but that is only half the battle,” said DuSold. “To fully understand the disorder, we need to figure out why those mutations cause the symptoms we observe. That’s what my lab is working on.”

As a psychology major and neuroscience minor, DuSold is deviating from her regular academic work with this summer research. After spending last summer helping with data entry at CHOP’s Center for Autism Research, she is excited to be back at the hospital and is looking forward to gaining hands-on experience in a new field. Last year, in the biology department’s year-long course “Cell Structure and Function,” she became interested in genetics, gene expression, and genetic diseases.

“I think that working on figuring out the mechanism of how genetic mutations actually cause disease is incredibly interesting—it’s like solving a mystery,” she said. “By studying the effects of altered gene activity in a disease like Cornelia de Lange syndrome, we can learn a lot about the normal function of the gene.”

Krantz’ lab uses fruit flies to study several models of Cornelia de Lange, and DuSold is measuring and analyzing the test flies’ characteristics to identify the disease’s biological pathway that produces changes in cells. She has learned to dissect the tiny flies’ wings and their larvae’s progenitor cells to check for microscopic defects. These small-scale observations will hopefully lead to conclusions about why genetic mutations result in the disease’s observable symptoms.

DuSold came upon the research opportunity through her own ambition: she found Krantz on a CHOP database that described his work, and decided to email him. But when he wasn’t sure if he would have the grant money to support her position, she earned support from the KINSC.

“The funding that the KINSC awarded me was what made the internship possible,” she said.

-Michael Weber ’19

“Summer Centered” is a series exploring our students’ Center-funded summer work.