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Brian McCollister

Brian McCollister talks about his family to an Ohio University class

Photographer: Jill Bateman

Brian McCollister, Meg-Nichols

Student Meg Nichols listens to Brian McCollister describe his family's situation

Photographer: Jill Bateman

McCollister

Professor Lonnie Welch's class listens to Brian McCollister talk about his family

Photographer: Jill Bateman

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Russ College bioinformatics course gives students chance to study rare disease

Research findings could help local family


This semester, students taking a bioinformatics course at Ohio University's Russ College of Engineering and Technology had the opportunity to take part in a project that could change the lives of a local Athens family.

More than 14 years ago, the world of Brian and Jenny McCollister was turned upside down when two of their five children were diagnosed with ataxia with oculomotor apraxia type 1, or AOA1 [see sidebar].

AOA1 is caused by a genetic mutation that blocks the brain's ability to regulate the body's posture, limb movements and strength, resulting in difficulty executing fine motor skills, unsteady eye gait and inability to walk. The disease is so rare that when the children were diagnosed in 2004, they were one of two known cases in the United States, and one of less than 10 diagnosed worldwide.

No cure for the disease currently exists, but Lonnie Welch, Stuckey Professor of Computer Science at the Russ College and family friend of the McCollisters, seeks to change that. This fall, he took the engineering, technology, and biology students in his "Data Mining with Applications in the Life Sciences" class along for the ride.

Welch tasked the students with examining the DNA code of the APTX gene which causes the apraxia, as well as related genes that are involved in the disease in an effort to understand their interrelationships.

He has seen the personal aspects of this case motivate the students to work through the course's challenges. "They're excited; they want to find the disease–related patterns and codes," he said. "If we discover them, then that's a new insight into these genes and potentially into this disease."

Robert Schmidt, a first-year computer science master's student, says the course cross-trains students in genetic biology and computer science in order to develop them into computational biologists.

"The AOA1 Project that Dr. Welch has assigned to us tasks us with developing software that can search for motifs in the APTX gene sequence … in an attempt to gain a better understanding of the genetics behind oculomotor apraxia," Schmidt said.

Welch pointed out although the work may be stimulating, due to its cross-disciplinary nature, it can also be extremely daunting at times.

"A computer scientist who wants to do bioinformatics has to take courses in biology and chemistry. A biologist who wants to do bioinformatics has to take courses in calculus and one or two courses in math, and then they're going to need to take some computer science courses," he explained. "It's hard work, and they have to be really motivated and inspired to do that extra work."

Meg Nicol, a biological sciences major, said the possibility of helping out a family like the McCollisters is worth it.

"This is certainly one of my most challenging classes this semester, but I also feel that it will be the most rewarding," she explained. "The McCollisters aren't some fictitious family in part of a prompt; they are real people whose children are dealing with the disease every day."

According to Brian McCollister, the respect is certainly mutual.

"My wife and I love Ohio University students and we care deeply for our children," McCollister said. "It is rare that these two worlds connect, so we are deeply grateful that Ohio University students are
looking for ways to research this rare disease."

The consensus among the students is that they are glad to help. "What we do makes a difference," Schmidt said. "Even if this project doesn't lead to any short-term results, it might just be the spark
that ignites the flame in one of our minds." 

"When you bring your first child home from the hospital … to see them grow and be so full of life is the ultimate joy as a parent," said Brian McCollister, Athens resident father, and Missional Team Leader for Cru, a not-for-profit Christian organization. 

However, when Brian and his wife Jenny noticed that two of their children, Lauren and Grant, began having severe balance problems, slow speech, frequent falls and other challenges, they soon learned that their children were experiencing symptoms of AOA1—a disease that has no treatment.

A flicker of hope emerged after McCollister had a chance encounter with Lonnie Welch, Stuckey professor at Ohio University's Russ College of Engineering and Technology.

"Dr. Welch and I met through a local home-schooling network. We've gotten to know one another through our various connections to the Christian community here in Athens, and we now go to the same church, so we see one another regularly."

Welch explains that as he was telling McCollister about his research, McCollister mentioned AOA1.

"I said ‘you know, that sounds very similar to this other disease that I'm studying.'"

Some of the genes present in McCollister's children were genes that Welch had studied in depth as a computational biologist. This semester, Welch tasked students in his bioinformatics course with researching the gene that causes the disease.

"I really feel very passionate about what I do now," said Welch. "We may not discover things in time for the McCollisters, but we can make a difference hopefully for families in the future."

Meanwhile, the McCollisters remain positive.

Lauren, now 20, finds her solace in music and film. She has her own computer, and listens to her iPod frequently. In her spare time, she can also often be found watching a movie from her extensive collection. Grant, now 17, loves Lego, and has an impressive collection.

In 2007, both children were granted Make-a-Wish trips. Grant chose a family trip to Disney World, while Lauren got to meet the cast of High School Musical.

"We've experienced the support of such wonderful people," McCollister said. "I am deeply grateful for Dr. Welch taking a personal interest in my children and their disease. He combines great professionalism and compassion, everything one could ever hope a true scientist would exhibit."

-- By Taylor See and Colleen Carow