Franklin & Marshall College Franklin & Marshall College

Getting to the Bare Bones of Down Syndrome

Maeve Tischbein ’12

Advisor:  Dr. Clara Moore, F&M Department of Biology

Down syndrome is known to cause certain known physical abnormalities in humans, although the precise processes by which these defects occur are not well understood. Since her sophomore year, Maeve Tischbein ’12 has been working with Associate Professor of Biology Clara Moore to study the ways in which the presence of an extra chromosome alters fetal development.

A biochemistry and molecular biology major, Tischbein examines the formation of bone from cartilage in mice possessing an extra chromosome. The goal of her research is to provide a glimpse into the development of humans with Down syndrome. 

“Humans with Down syndrome have certain skeletal abnormalities, such as shorter stature,” Tischbein says. “With this mouse model, I’m looking at appendicular skeletal development—the limbs.” Because researchers have found that human fetuses with Down syndrome have shorter humerus and femur lengths during pregnancy, she wanted to explore the same process in mice to get a closer look at what was happening.

Tischbein narrowed her focus to the development of the cartilage into bone to see when these abnormalities arise. She began by comparing limb lengths in normal mice and mice with an extra chromosome at embryonic day 13.5. When this exploration revealed no significant differences, she focused more closely on the ossification process of bone development.

“There are so many aspects of development,” Tischbein says. “So now I'm looking at the protein expression. I’m sectioning the samples to visualize the cartilage. This way I can look at a section of the limb instead of the whole embryo and I can see the changing morphology as well as study patterns of protein expression.”

While her research is ongoing, Tischbein has already delivered a presentation on her findings to experts in the field at an international conference on Mouse Genetics in Washington, D.C. She and Moore are even exploring the possibility of collaborating with researchers from other institutions to produce a future publication on this topic.

Beyond her contributions to science, Tischbein learned many other valuable skills as she undertook this challenge. “I learned how to apply for a grant and complete a grant proposal. I learned how to present a poster at a conference and talk to colleagues. I learned a lot of new techniques and independent thinking, especially since this isn’t Professor Moore’s area of expertise. I’m the one calling the shots, and it’s very exciting.” 

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