By ERIKA KHAIR
Student Writer, EKU Communications & Marketing
Eastern Kentucky University senior Molly Bates remembers two specific events earlier this year that flooded her with a mix of emotions.
She recalls the sheer joy she felt upon receiving news from her sister that Kalydeco, a promising new drug for cystic fibrosis patients, had been approved for children ages two to five. Bates was on her way to class when she got the call. Her squeal of joy was loud enough to startle the student walking ahead of her.
Bates also remembers a second moment, when she received a picture of her now four-year-old nephew, Liam, who has cystic fibrosis, holding his first box of Kalydeco over his head. This time, her happiness found expression in tears, though her tears of joy soon turned to tears of sorrow for the people who, lacking Liam’s specific gene mutation, aren’t eligible for the drug.
“Liam’s diagnosis led me to pursue a career as a physician,” the biology and pre-medical sciences major from Pikeville said. “His treatment, however, fills me with the desire to combat this disease more directly, to tackle the cause of cystic fibrosis and to join the dedicated individuals who are at the forefront of cystic fibrosis research.”
The day Kalydeco was approved by the Food and Drug Administration, Bates stopped by the office of Dr. Martin Brock, an associate professor in EKU’s Department of Chemistry, to discuss the biochemistry behind the compound and what it could mean for Bates’ nephew. Seeing her interest, Brock recommended Bates apply for a research program for cystic fibrosis.
Bates discovered the Elizabeth Nash Foundation award for cystic fibrosis research. The award funded her position in the summer research program at Children’s Hospital Oakland Research Institute (CHORI) in Oakland, California. The program pairs students with mentors at the Institute and allows them the opportunity to immerse themselves in the world of pre-clinical research. Bates was one of only two students nationwide chosen by the Nash Foundation for the program; a total of 50 students participated in the CHORI program, funded by various grants.
She spent more than two months, under the guidance of her mentors Dr. Horst Fischer and Dr. Beate Illek, testing the response of cell samples from patients with cystic fibrosis-causing mutations to Kalydeco. These results were compared to the effect of Kalydeco on the patients themselves. Bates’ research supported the hypothesis that drug response could be tested in the lab to predict clinical response and, if carried out further, possibly lead to personalized medicine for CF patients.
More than 1,800 mutations can cause the disease, which causes a thick buildup of mucus in the lungs, pancreas and other organs, leading to persistent lung infections and progressively more difficult breathing. Kalydeco only works for patients with a few of those mutations, but it treats the defective protein that causes the disease rather than its symptoms, as other treatments do.
Bates learned about the specifics of several genes that cause cystic fibrosis and their effect on the human
body. She also learned about the effect Kalydeco could have on patients who don’t have the specific mutations the drug treats.
“The experience helped me realize how fortunate my nephew is to have a treatable mutation,” Bates said. “Only about three percent of cystic fibrosis patients (have the gene variant the drug treats).
“The change in Liam’s health has been astounding. It was amazing to work with the drug in the lab after seeing the positive effects that it had for him.”
When Bates’ nephew was diagnosed with cystic fibrosis shortly after his birth, Bates described a dark cloud hovering over the family as they learned more about the disease, especially the shortened lifespan its sufferers face.
Chloride ion channels, which are affected by cystic fibrosis-causing mutations, became a regular topic of dinner-table conversation, Bates recalled. Treatments became a part of life.
“The one refrain that gave us hope was the assurance that great strides are being made in cystic fibrosis research,” Bates said.
She was inspired to pursue cystic fibrosis research because, as she puts it, “Medical doctors provide treatment; research provides cures.”
Liam’s diagnosis made Bates more aware of how important health is to happiness and quality of life.
“I have always had a deep respect and appreciation for my Appalachian culture and the area that I call home,” Bates said. “When Liam was diagnosed, I became more aware that many counties in eastern Kentucky are medically underserved. I hope to become a primary care physician and to work in rural Appalachian communities. I would love to pursue research as part of my career.”