Where Science And Medicine Meet

Franklin & Marshall College, United States

At the outset of his “Neurochemistry” course at Franklin & Marshall in the fall of 2010, Associate Professor of Biology Rob Jinks had a decision to make. He could plan the course’s lab around traditional exercises and methods, or he could try something new: take advantage of an offer to work with the Clinic for Special Children, a nonprofit medical and diagnostic service for Lancaster County children who have inherited (genetic) disorders. The opportunity would allow F&M students to conduct functional studies of genes associated with inherited diseases of the nervous system in collaboration with the clinic.

“When I told students about the two options, they of course wanted to pursue the research,”
Jinks said. “There was a natural pairing with the nervous system disorders they were investigating at the clinic and what I was teaching students at F&M.”

One year after the completion of the “Neurochemistry” course, Jinks and 13 F&M students and young alumni are co-authors of a paper in collaboration with the clinic that demonstrates the power of new genotyping technologies in the study of genetic disorders. The paper, titled “Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases,” was published Jan. 17 in the journal PLoS One.

The F&M contingent—which explored genetic mutations that cause the diseases—collaborated on the research with co-authors from the clinic, The Broad Institute (Harvard and MIT), Swarthmore College, the University of Wisconsin and the University of Vermont. The research was supported in part by F&M’s grant from the Howard Hughes Medical Institute’s Undergraduate Science Education Program, the Eyler Endowment for Biochemistry and a grant from the Center for Research on Women and Newborn Health.

“I never expected to be a co-author as an undergraduate, especially since a lot of the work that we are given the opportunity to do in the lab at F&M is often reserved for graduate students at other institutions,” said Becky Willert ’12, a biology major. “The work that the Clinic for Special Children does is unique and monumental, not only research-wise, but clinically. To be associated with them is really an honor.”

The clinic, founded by Holmes Morton, M.D., provides comprehensive medical care for children with chronic, complex medical problems due to inherited disorders. Surrounded by cornfields south of Strasburg, it serves Old Order Amish and Mennonite (Plain) children, who have a higher incidence of recessive diseases such as maple syrup urine disease and Crigler-Najjar syndrome than children outside the Plain community. Individuals with the urine disease are unable to break down certain parts of proteins—leading to a buildup of amino acids in the blood and, in some cases, damange to the brain—while those with Crigler-Najjar syndrome are unable to break down bilirubin, a substance made by the liver, and may experience jaundice or damage to the nervous system.

“There is a substantial founder effect (a loss of genetic variation) in the Plain communities,” Jinks said. “For example, the current Lancaster County Amish population is thought to have descended from as few as 50-200 founders.”

The opportunity for students to work on the genetic-mapping project came out of a conversation between Jinks, Erik Puffenberger, Ph.D., the clinic’s laboratory director and lead author on the paper, and Kevin Strauss, M.D., the clinic’s medical director. It was a chance, they believed, to build on a partnership that has developed between the clinic and F&M over the past several years. Once the clinic identified genes associated with novel diseases using a process known as exome sequencing in collaboration with The Broad Institute in Boston, Jinks and F&M students conducted functional studies to assess the pathophysiological impact of the genetic mutations.

Nate Achilly ’12 is investigating a mutation in HARS, a gene associated with progressive sensorineural hearing loss and retinitis pigmentosa (a form of progressive retinal degeneration). “It’s a tremendous feeling knowing that my work is accessible to researchers across the nation,” said Achilly, a neuroscience major and art history minor. “But this is merely the tip of the iceberg. In research, every result inevitably raises more questions than it answers. Even now, members of the clinic and Dr. Jinks’ lab are working diligently to better understand the underlying biology of these rare neurological diseases.”

Chris Fiorentini ’12, a neuroscience major and classics minor, is studying the SNIP1 gene, which the clinic associated with symptomatic epilepsy and skull dysplasia. “I may work on one gene, but every student in the lab participates in everyone else’s project,” Fiorentini said. “We all know how important this research is. We’re the first ones to study these genes in this context. We’re blessed to have this experience with the clinic.”

Willert obtained a firsthand understanding of how the clinic operates when she met several patients who have the mutated gene she studies, CRADD, which is associated with non-syndromic mental retardation. “Not many students or researchers are given the opportunity to connect what they work on in the laboratory with actual clinical conditions in patients,” she said. “It was an amazing experience to meet the children and see that what we’re doing at a scientific level may someday help better the lives of children with this disorder in the future.”

Jinks says that while the research aspect of the project is rewarding, he is most grateful for the collaborations that developed among students and professionals at F&M, at the clinic, and beyond.

“The collaborations developed quickly and with great enthusiasm from all involved,” Jinks said. “When we engage students in undergraduate research, it puts their liberal arts experience into context. So much of what they learn in chemistry, biology, physics and other disciplines comes into play when we look at this project.”

In addition to Willert, Achilly and Fiorentini, students and young alumni who contributed to the paper are Ryan Cassidy ’11, Kory Heiken ’11, Johnny Lawrence ’11, Molly Mahoney ’11, Christopher Miller ’11, Devika Nair ’12, Kristin Politi ’11, Kimberly Worcester ’11, Roni Setton ’12 and Rosa DiPiazza ’13.

“I’ve learned that great discoveries are made when medicine and research join forces,” Achilly says. “I’m even more impressed that a small liberal arts college and a small rural clinic were able to make such a significant impact.”

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