Summer 2008 — Vol. 61, No. 3

You could say Carolyn Schanen ’84 was born to the medical profession — her father was an obstetrician.

Brains didn’t hurt either. Schanen, originally from Greenwood, entered Clemson as a pre-veterinary major through an early admission program.

Between her junior and senior years, however, she found herself torn between going on to veterinary school or to medical school. A trip to the hospital with her father to see him perform a C-section helped her shift from animal patients to human ones.

“My dad so clearly loved what he did for a living,” says Schanen. “His relationship with his patients was something I wanted to experience.”

As a Clemson undergraduate, she also discovered another passion that would become a major part of her medical career — research.

Her then biological sciences professor and department head Dori Helms (now provost and vice president for academic affairs), along with her adviser Gayle Noblet (now professor emeritus), suggested that Schanen experience more research as a part of her overall undergraduate experience.

She began working with biological sciences professor Alfred P. “Hap” Wheeler (now department head) in studying calcified structures — oyster shells, in particular.

“The lab provided both intellectual and hands-on challenges and experiences,” Schanen recalls. “There was also a collegiate, fun part to lab work.”

She went on to the Medical University of South Carolina and entered the M.D./Ph.D. program where she became engrossed in genetics. From there, she went to Stanford University where she completed a residency in pediatrics and fellowship training in medical genetics.

Schanen is now at Nemours Alfred I. duPont Hospital for Children in Wilmington, Del., where she’s a principal investigator at the Human Genetics Research Laboratory. She has found her calling in trying to demystify the genetic disorder Rett syndrome.

Rett syndrome (RTT) is a neurological condition similar to autism that strikes mostly young girls. They start out as healthy, normal children, but soon begin to regress, losing the ability to speak and developing unusual hand movements that are a hallmark feature of the disorder. They often end up severely handicapped, both mentally and physically.

RTT hasn’t gotten the public attention over the years that autism has because it isn’t as widespread. But it’s just as devastating.

For those affected and those working for a cure, Dr. Carolyn Schanen is a familiar name. Her research has appeared in top medical journals across the country, and her presentations have keynoted national and international conferences on RTT and related conditions.

“The goal of helping the families affected by RTT through research provides the driving force in my lab,” says Schanen. “We always remember there are little girls out there who need us to work harder to understand this disorder so that we might eventually develop a cure.”

Researchers are making progress.

Several years ago, they linked a gene called MECP2 on the X chromosome to the disease. More recently, they’ve begun to understand how the mutations can cause a variety of impairments.

As the research advances, so does the hope for treatment.

At Nemours Human Genetics Research Laboratory, Schanen’s team is developing a cell-based analysis to screen possible drugs to alleviate RTT by restoring the defective gene’s protein. Such research may also be key to treating autism.

Schanen is hopeful that her team’s work will lead to better therapies that will allow girls with RTT to lead more normal lives, talking and playing like other children.

As the renowned geneticist looks forward, she also glances back to her days as a college student.

“My research experiences as an undergraduate at Clemson shaped my career,” she says. “I learned that there were no questions too tough to tackle. It just takes patience and perseverance.”

For more information on Rett syndrome and support, go to the International Rett Syndrome Foundation Web site at www.rettsyndrome.org. For more on the Nemours Human Genetics Research Laboratory and Schanen’s work, go to www.nemours.org/research/biomedical/program/genetic.html.