It’s just past 4 p.m. on a Friday in mid-May in the Barshinger Life Sciences & Philosophy Building at Franklin & Marshall College. It’s the hour when most students would be hanging up their lab coats for the weekend to unwind after their first full week of summer research.
But for students Abby Benkert, Daniel Hass and Dominick Trombetta, the excitement of the day, and not the weekend, dominates their thoughts. They are deeply engaged in culturing cells as part of innovative research designed to someday help children who suffer from certain rare genetic disorders. “We still have work to do,” says Benkert as she slips on a fresh pair of blue nitrile gloves.
Benkert, who will be a junior in the fall, along with Hass and Trombetta, a rising senior and a Class of 2012 graduate, respectively, all are genuinely happy to be hard at work—and thanks to a $1.4 million grant from the Howard Hughes Medical Institute, their work will continue through the summer—and beyond.
F&M received the four-year grant as one of 43 that HHMI awarded nationwide, totaling a combined $50 million, announced by the institute on May 24. It is F&M’s second consecutive successful HHMI grant application and the College's fourth grant from the institute in the past 15 years. This year, HHMI funded only about a quarter of the 187 proposals it received, and F&M’s grant was among the eight largest. Other recipients include the five Claremont colleges; Carleton, Grinnell, Swarthmore and Oberlin colleges; and Gonzaga and Tuskegee universities, among others.
F&M’s grant will support expansion of the College's research curriculum and build upon a distinctive and fruitful collaboration with the Clinic for Special Children, a nonprofit medical and diagnostic center for Lancaster County children who have inherited genetic disorders. The clinic, founded by Dr. Holmes Morton and based in Strasburg, Pa., serves Amish and Mennonite families. Because the families are descended from such a small number of Swiss-immigrant founders—between 50 and 200—they are much more likely to inherit recessive diseases than are children outside their closed communities.
F&M has maintained a partnership with the clinic since 2007, but during fall 2010, Associate Professor of Biology Rob Jinks took the partnership to a new level by involving 13 students from his “Neurochemistry” course in the research being conducted at the clinic. Student teams each chose a gene associated with an inherited disorder of the nervous system to investigate. The students then conducted functional studies to assess how genetic mutations alter the body's normal physiological functions. In addition to providing students with the opportunity to work with material as researchers do—without a known answer to the problem at hand—the research connects to how individuals with these disorders might eventually be treated.
A previous $1.3 million HHMI grant that F&M received in 2008 helped the College establish its program in bioinformatics, the computer-based analysis of biological data sets. Jinks said the latest grant is a validation of the work done by the students and a host of faculty and administrators at F&M, including 2008 grant preparers Richard Fluck, F&M's Dr. E. Paul and Frances H. Reiff Professor of Biology (emeritus) and former dean of the faculty, and Ryan Sauder, senior director of college grants and foundation and corporate relations.
“This grant means we are doing something right in building upon the foundation of our previous three HHMI awards,” Jinks said. “I was ecstatic when I heard the news. We’re all pretty enthusiastic that we can continue to do the things we love to do: work with students, build on our partnership with the clinic, and get students more excited about translational medicine (the bridging of medical research and patient care).”
Erik Puffenberger, laboratory director at the clinic and adjunct associate research professor of biology at F&M, is equally excited to see what the next four years will bring.
“What’s unique here is that the problems the students are working on are human problems,” he said. “It’s very unusual for undergraduates to be working on these types of real, human problems. We are offering something that cannot be found elsewhere. And that is energizing our students.”
Back on the second floor of the College’s life sciences building, young researchers Benkert, Trombetta and Hass are keenly focused as they lean into the biosafety cabinet tucked into a corner of the cell culture laboratory. Earlier, Jinks, Benkert, Trombetta, and Hass introduced into cultured human neuroblasts—embryonic cells from which nerve cells develop—a mutant gene associated with mental retardation in Amish children. Among their tasks, Hass explains, is to break up the membranes of the cells, thereby releasing the proteins encoded with the mutated gene. They will then study the impact of the mutation on the biochemistry of the proteins and the physiology of cells expressing the mutation.
This is only the first step in a complex series of experiments that they hope will help them unlock some of the mysteries of the role of this mutation in mental retardation.
After completing this phase of their work, the trio methodically breaks down the staging area and thoroughly disinfects the cabinet and equipment with ethanol. With their samples packed snugly into a Styrofoam container filled with crushed ice, they make the short walk back to Jinks’ lab to prepare for the next stage of their work. Among other things, they will expose the proteins to fluorescent antibodies to “stain” them, and then examine the marked proteins under a microscope. They’ll search for patterns that they hope will give them a better idea of how the mutation affects human cells to produce the disease symptoms.
For Benkert, the research is about more than science. It’s about improving the quality of life for children.
“That’s ultimately what we are doing all of this for,” she said, gesturing to the lab she shares with half a dozen other student researchers. “It means more to me because it has a direct effect on people’s lives. I’m doing work that makes a difference.”
The neuroscience major, on track to graduate a year early, plans to enroll in medical school and use the skills she learned as a researcher to improve the quality of care she delivers, hopefully as a pediatric surgeon.
Trombetta, whose research assistantship is also being funded by the HHMI grant, said after his experience at F&M, he couldn’t imagine separating research from practice. Having graduated this May, he too intends to apply to medical school.
“I enjoy working with patients, but I also enjoy coming back here to examine the cellular and molecular aspects (in the lab),” he said. “This funding has given us ample resources to do the initial work on these genes and, ultimately, will help us discover how we can help these families and their children.”
This union of research, practical application, and community service is what made F&M’s HHMI grant proposal so powerful, Jinks said. It’s also the kind of experience students crave from a small, liberal arts institution.
“Having opportunities to serve the community in the context of research is increasingly important to our students,” he said. “We see students come to F&M looking for ways to participate in projects that improve their community.”
In addition to funding ongoing gene-discovery efforts, the grant will allow F&M to add depth and breadth to its curriculum and expose more students to the value of hands-on research and community engagement in partnership with the Clinic for Special Children, Jinks said.
There already are plans to launch courses that will directly connect to the work being done here and in Strasburg. For example, Kirk Miller, the College's B. F. Fackenthal Jr. Professor of Biology, is developing a public health course in which students would canvas the Amish and Mennonite communities, conducting epidemiological surveys to discover more about certain diseases that researchers at the clinic have yet to study in depth.
Also, Ellie Rice, adjunct assistant professor of biology, plans to craft a course that will merge the sciences and the humanities. Her students are expected to research and write gene-disease pamphlets for families of individuals with various disorders.
“It’s a way to engage students from other majors that will merge interests in human biology and writing,” Jinks said.
At the same time, the College has made moves to bolster its science-education programming and engage from day one members of the College’s new STEM Posse from Miami, being advised by Professor of Chemistry Ken Hess. The STEM Posse scholars are 10 high-performing students from diverse backgrounds who are interested in careers in science, technology, engineering and math. They join F&M this fall.
“The opportunity to engage with the clinic on these projects will be excellent preparation for our STEM Posse scholars and all of our health-professions students,” Hess said. “Medicine is increasingly moving toward the genetic treatment of individuals and specific populations.”
Finally, F&M plans to establish a leadership academy with the goal of creating thought leaders in biomedical research and medicine, Jinks said. He hopes to regularly bring to campus recognized leaders in translational medicine and public health.
“This academy sets up students to have leadership roles beyond F&M,” Jinks said. “They will be launched into positions of leadership in this emerging field.”