Microscopy images are helping Virginia Tech researchers understand how genes associated with Prader-Willi syndrome (PWS) — a rare genetic disorder affecting growth, appetite, muscle tone, and behavior — are expressed throughout the brain.

University Libraries has collaborated with Department of Human Nutrition, Foods, and Exercise researchers Deborah Good and Shadi Ariyanfar to make findings about PWS more understandable through a new interactive visualization tool.

Visualizing gene expression

Good and Ariyanfar are studying why people with PWS experience excessive hunger and obesity later in life.

The researchers are examining where genes associated with PWS are expressed together in the brain. Knowing where this occurs could help explain how genetic changes contribute to the disorder's symptoms.

When University Libraries began working with Good and Ariyanfar, the initial goal was to organize the results of their research and make it available through the university’s Digital Library Platform. The team determined a traditional digital collection would not fully capture the data.

Instead, they turned to the interactive visualization tool Minerva, which allows researchers to transform tissue imagery and digital pathology data into interactive stories that users can explore online.

“Minerva was an excellent fit because it provides an array of tools to allow the user or researcher to showcase data in an interactive viewing experience that can be displayed on the web as a digital story,” said Jennifer Goyne, assistant director of digital library development.

Unlike static images in a scientific paper, Minerva lets users interact with researchers’ microscopy images.

“The user can zoom in and out of the images and ‘turn on’ and ‘off’ signals to visualize one gene versus another,” Good said.

Making complex research easier to understand

Screenshot of brain atlas used in Prader-Willi syndrome research.

Screenshot of an interactive brain atlas showing a microscopic cross-section of a brain against a black background. The brain tissue appears primarily purple and blue with scattered red, green, and white fluorescent markings indicating areas of gene expression. Three white rectangular outlines highlight specific regions of the brain for closer examination. A navigation panel on the left lists “Introduction” and “Brain Atlas Overview,” and the Minerva visualization interface surrounds the image.
Screenshot of brain atlas used in Prader-Willi syndrome research.

The format reaches audiences beyond the scientific community.

After developing the first Minerva story, the team recognized that stories should include both technical and nontechnical descriptions. This approach would give researchers detail while making the PWS collection easier to understand for people without a background in medical terminology, Goyne said.

A new role for University Libraries

Creating the collection required collaboration between the researchers and University Libraries. The microscopy images were extremely large, creating challenges for preparing and displaying the data online.

Library faculty and staff worked with the researchers to learn Minerva, develop a workflow, and prepare the interactive stories for the Digital Library Platform.

“We could not have done this work without the University Libraries,” Good said. “Libraries are the hub of information and dissemination of knowledge, so it makes perfect sense that this project would sit in the library databases.”

For Goyne, the project demonstrates how an academic library can extend its role beyond preserving and providing access to completed research.

“A project such as PWS clearly demonstrates how the role of University Libraries is evolving from simply providing access to information to becoming an active partner in research and discovery,” Goyne said.

The project could model future Virginia Tech research projects involving tissue imagery, digital pathology, and other large visual datasets.

"Projects like PWS demonstrate how digital libraries can make information easier to find, access, and understand, whether someone is a researcher, a family member, or simply someone looking to learn more about PWS or explore other digital collections,” Goyne said.

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