Through the Delaware Centers of Biomedical Research Excellence (COBRE) program, she found Tomatsu, who is head of the Skeletal
Dysplasia Research Lab at Nemours, where he specializes in MPS. An
affiliated research mentor with UD’s Department of Biological Sciences, he regularly works with undergraduate students, encouraging them to delve into all aspects of research.
“Every year, I have one undergraduate and one graduate student from
the University of Delaware,” Tomatsu said. “I encourage the
undergraduates to write papers, not just to get an understanding of the
disease but to really learn and know about it in depth.”
Although his lab and his research assistants are always productive,
Peracha’s authorship of four papers has marked an unusual accomplishment
for an undergraduate, he said.
Tomatsu’s lab has two major research projects underway, one to
develop an MPS screening test for newborns and one to develop a gene
therapy or enzyme therapy to treat Morquio Syndrome.
In her three years of work in the lab, Peracha did a variety of tasks
and became increasingly interested in the effects of MPS on bones. She
attended and made presentations at international conferences and met
leading researchers. But, she said, it was the patients and their
families that had the biggest impact on her.
“Nemours is a hub for MPS research and patient care, and patients
come from all over the world,” she said. “When you meet them, instead of
just seeing their medical records and their lab samples, then you
really become passionate about this work.”
Peracha’s focus has been on the screening project, searching to
identify biomarkers of the disease, since babies with MPS are born
without obvious symptoms. An early diagnosis can mean earlier
interventions to slow the effects of the disorder.
“Because it’s caused by a mutation in the genes, you could screen a
newborn,” she said. “There’s no cure, but you can start a treatment plan
as soon as you have a diagnosis.
“That’s what I’m trying to do — to find a way to screen before it’s too late.”
Peracha, who grew up in Middletown, Delaware, and commuted to UD from
home, is uncertain if her future lies in work as a clinician or a
researcher. Maybe, she said, she can find a way to combine the two, as
Tomatsu has done.
She credited her parents with encouraging her to lead a meaningful life by finding a way to help others.
In addition to assistance from family and friends over the last four
years, Peracha said, she received a great deal of support from UD
faculty and programs. Advisers for her senior thesis were Tomatsu and UD
faculty members Deni Galileo and Jessica Tanis, both in the Department
of Biological Sciences, and Barbara Settles in the Department of Human
Development and Family Science.
“I couldn’t have done this without all that help,” Peracha said.
Article by Ann Manser; photos by Evan Krape