Incredible Journey

For R. Jude Samulski, viruses are the good guys.

With minimal energy and great efficiency they deliver genetic material from outside sources to the nuclei of cells. If programmed correctly, the DNA sequences they carry can change the genetic information in cells, turning diseased cells into healthy ones.

Samulski, a professor in the UNC School of Medicine, director of the Gene Therapy Center at UNC Chapel Hill and director of the new Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center at UNC Chapel Hill, has a particular interest in the parvovirus adeno-associated virus (AAV). It’s tiny even by viral standards, it has no ill effects on humans and it shows so much potential as a transporter of genetic material that Samulski calls it a “molecular FedEx® truck.”

Viruses, he explains, have evolved over millions of years into experts at transferring themselves in order to spread and multiply. Gene therapy exploits the efficient mobility of viruses, using non-pathogenic varieties to carry therapeutic sequences of DNA to diseased cells. The new genetic material, inserted into the nuclei of diseased cells, changes the genetic program of those cells, setting right the mistakes embedded in the coding of genetic information that manifest themselves as debilitating diseases such as muscular dystrophy.

Samulski, who since the 1980s has studied viral delivery systems for treating muscular dystrophy, equates a muscle cell afflicted with muscular dystrophy with a road sign on a dark street with its lights burned out. You can’t read the message because some of the letters are in the dark. Delivering new genetic material to the diseased cell “is like screwing in a new light bulb. The sign is lit up and suddenly the message is clear,” he says.

When the Wellstone Center was announced in October 2008, Samulski realized he needed an intuitive way to explain how his molecular FedEx trucks operate and what they could mean for treating Duchenne’s muscular dystrophy, a severe form of the disease that strikes young children and progressively weakens and deteriorates the muscles, eventually causing death.

He needed a way to easily talk about his research to both funding agencies (the center was made possible by a $7 million grant from the National Institutes of Health) and to parents who are eager to learn about the disease and want to know the specifics about treatments their children might receive.

Visualization shows “molecular FedEx® trucks” in action

Before the Wellstone Center’s inauguration in April, Samulski turned to the Renaissance Computing Institute (RENCI) at UNC Chapel Hill to create visualizations that would explain his work in familiar terms. RENCI’s Eric Knisley, a 3D visualization researcher, and David Borland, a senior visualization researcher, created a high resolution animation showing AAV particles traveling through the human blood stream to the heart muscle, where they deliver new genetic material into the nuclei of cells, which in turn express a therapeutic protein that helps diseased heart muscle cells become normal cells. The results of the molecular delivery system are dramatic: a heart shown beating weakly at the start of the animation beats strong and regular by the end.

He also worked closely with Mike Conway, systems specialist at RENCI’s UNC Chapel Hill engagement center, to develop a presentation on the mission and research of the Wellstone Center for RENCI’s Social Computing Room (SCR), which displays in high resolution on a 360-degree, floor-to-ceiling desktop. The presentation featured slides, video, and images projected on the four walls of the SCR in a way that allowed attendees to browse at their own pace, much as they would in an art gallery.

“We had been limited in our ability to communicate our message,” says Samulski. “RENCI has been tremendously valuable to us. It helped us take complex scientific information and turn it into something that was much less intimidating and that people can easily understand.”

RENCI at UNC Chapel Hill hosted the Wellstone Center inauguration, where visitors experienced the dome visualization and the SCR presentation. The SCR was such an effective medium for telling the new center’s story that Samulski hopes to use it again to inform parents of muscular dystrophy patients about the center’s research and mission.

In the months and years to come, Samulski’s research on gene therapy delivery systems could make a world of difference for muscular dystrophy patients. If AAV lives up to its promise, testing on human subjects will follow. Within six or seven years, treatments that help patients retain function in their limbs could be possible and eventually, a cure.

In the meantime, Samulski plans to keep working with RENCI to create visualizations and large format presentation that bring scientific research to life.

Sen. Paul D. Wellstone Center Muscular Dystrophy Cooperative Research Center at UNC-Chapel Hill
RENCI at UNC-Chapel Hill