Undergrads research rare incurable disease
Anna Boarini | Wednesday, February 2, 2011
As participants in a semester-long course, Notre Dame undergraduates have the rare opportunity to contribute to real clinical research about Niemann – Pick Type C (NP-C) disease.
The course, titled “Clinical research in developing health networks in rare and neglected diseases,” is one of only a few similar courses offered at universities around the country, said Katrina Epperson, program coordinator for the Center for Rare and Neglected Diseases at Notre Dame.
“There are 17 symptoms of NP-C and the students track the nine major ones,” Epperson said. “The students look at medical records to give a score to each doctor visit. This then helps track the progression of the disease.”
Notre Dame gives its results from the course to The National Institute of Health (NIH), which is currently conducting the only clinical trial on NP-C in the United States.
According to NIH’s website, NP-C is an inherited metabolic disorder that causes harmful amounts of fatty substances to collect in the brain, bone marrow, spleen, lungs and liver. NP-C is classified as a liposomal storage disorder, where cells do not trap cholesterol in the proper manner. Cholesterol builds up, which affects the central nervous system and causes the deterioration of the brain.
Also known as “childhood Alzheimer’s,” NP-C effects one in 200,000 people, Epperson said.
“Because this disease affects such a small group, it is really hard to find people to do a clinical trial,” Epperson said.
Biology Professor Kasturi Haldar, director of Notre Dame’s Center for Rare and Neglected Diseases, teaches the course.
Mollie Howard, a senior biology major, is one of 30 students enrolled in the course this semester.
“I was looking for another biology elective and this sounded really interesting,” Howard said. “There is no cure for NP-C and there’s a delay from when the child starts to show symptoms and is diagnosed.”
Notre Dame became associated with NP-C through former head football coach Ara Parseghian, who has three grandchildren who died from NP-C. He started the Ara Parseghian Medical Research Foundation to raise awareness about NP-C and fund research.
“This is close to the community,” Epperson said. “There are 7,000 rare diseases and with the creation of the Center for Rare and Neglected Diseases, it makes it hard to just pick one [to study]. This relationship helped us choose.”
After the students learn how to follow the Health Insurance Portability and Accountability Act (HIPPA), they make presentations about the families that are suffering from NP-C in an attempt to put a face to medical records. Epperson said students may eventually be able to meet some of the patients whose medical records they research.
“We want if possible to include actually meeting some of these patients,” Epperson said.
One concern with bringing patients into the class is respect for the patients’ privacy, Epperson said.
“We want to respect the patients and not make them feel like they’re on display,” she said.
In the meantime, Epperson said there are other ways for the students to understand the lives of the patients who they research.
“The Discovery Channel came and taped a show about NP-C, so now we can show the students the video,” she said.