As an infant, Bo Martin cooed and cried and grabbed for his feet just like other babies.
But at 18 months, his parents, Stephanie and Robert, noticed that he wasn’t playing with his toys or reaching the other typical milestones either.
And he hadn’t uttered a word.
Almost a year later, the Greenville couple learned that their sweet little boy, their first-born, suffered from autism, a condition marked by impaired social and communication skills as well as a tendency for repetitive behaviors like rocking.
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“When we got the diagnosis, it was devastating. It was a dark, dark time,” Stephanie Martin told The Greenville News. “It was about four years before we could talk about it openly with anyone.”
But a new project that brings Clemson University, the Greenwood Genetic Center and Self Regional Healthcare together to conduct genetic research into conditions like autism gives Martin hope that there may some day be the promise of a treatment for Bo and other children like him.
“The potential here is just literally limitless,” she said. “And even if we specifically do not have anything that directly improves his quality of life, this is for the greater good. My children will hopefully have children one day. We need to get the bottom of what’s going on here.”
The project, which was announced Friday, creates a research hub aimed at finding new ways to diagnose and treat autism, intellectual and developmental disabilities, cancer, diabetes, heart disease and other conditions.
Made possible by a $5.6 million gift from Self Regional, the Clemson University Center for Human Genetics will feature a new facility on the campus of Greenwood Genetic Center where scientists will investigate human diagnostics and epigenetic therapeutics.
“We’ve been working on this project for eight years,” Dr. Steve Skinner, director of the Genetic Center, told The News. “We now have the funding and are moving forward with the design. And Clemson has committed to five new faculty members that will be on the campus here in Greenwood.”
The project also will grow the number of graduate students to 15, from the current five or fewer, he said. Together, it will create a critical mass of researchers with broad expertise that will make the center competitive for federal grants to help fund the research, he said.
The focus is on understanding the basic science — what’s causing diseases and genetic conditions, he said, with a goal of developing treatments from the information that is gained.
“We’re also building on strengths in diagnostics to develop new tests to identify an individual earlier and earlier so they can start treatment before so many problems have developed,” he said
For example, Skinner said, many metabolic conditions that cause crippling disabilities can now be identified through newborn blood tests and prevented through appropriate diet or medications.
In the same way, he said, researchers could develop a blood test that could screen for autism, which affects about one in 88 children, according to the U.S. Centers for Disease Control and Prevention. And that could point the way to a treatment that could prevent or maybe even reverse symptoms, or at the very least, improve the quality of life for sufferers, he said.
A screening test could be available in three to five years, he said, and treatments could be developed in five to 10 years.
“Our ability to treat more and more conditions is developing rapidly,” he said. “It’s not pie in the sky. But it’s not tomorrow.”
The research also could help determine whether a condition is caused by a gene, many genes, the interaction between genes, and whether the environment plays a role, said Steve Kresovich, the Coker Chair in Molecular Genetics at Clemson.
With the Genetic Center’s history of working with conditions like autism and the power of the new center, scientists hope to understand the genetic mechanisms that cause these disorders, which is critical to proposing a therapy.
“I believe that ... genetics and genomics and computational capabilities have a lot of possibility to solve problems in the future,” he said, “and to improve the human condition.”
The research also could help make people aware that they are carriers of a condition, so they can make more informed decisions about having children, Kresovich said.
The project, which includes a 17,000-square-foot building that will house labs, classrooms and office space, will kick off with an endowed chair, Skinner said. Top scientists also will be recruited from around the country, Kresovich said.
“You have to have the right team, the right capabilities, the clinical expertise and basic research expertise and tools that allow you to do cutting edge science in the 21st century,” he said. “I’m really excited about this.”
Self Regional CEO Jim Pfeiffer said the partnership will accelerate the rate of innovation in genetic medicine. The hospital, which has been affiliated with the genetic center since 1975, will support hospital-based clinical trials and collaborate on research, officials said.
And Clemson University President James P. Clements said the project will bring science a step closer to taking basic discoveries from the lab to the clinical setting.
Martin is optimistic that the center will mean new hope for families like hers.
When Bo, now almost 10, was diagnosed, she and her husband went through a grieving process.
“We felt like he was slipping through our fingers,” she said. “And we were worried about future children.”
A special approach for children with autism called Applied Behavioral Therapy was begun with Bo when he was 27 months old and today he can communicate his wants and needs, said Martin, an independent contractor and math tutor.
The progress has been slow and steady, and they’re grateful for it. But, she says, imagine if there had been a screening test.
While she still prays a treatment will be developed for her son, Martin says she expects that any new therapies are more likely to help future children, though something may be developed that improves Bo’s quality of life.
“He’s about to turn 10, so a lot of the early intervention opportunities have passed for him,” she said. “But the rate at which the research is moving forward is pretty remarkable.”
Bo’s sister, now 7, shows no signs of autism, Martin said. And they’re doing everything they can to make sure their new son, now 18 months old, isn’t exposed to something that might trigger the condition in him too, like avoiding gluten, dairy products and preservatives.
And although hearing the word autism once “felt like a life sentence,” the Martins have learned to adapt and are looking to the new genetics research center to offer a brighter future for both themselves and future generations.
“This is very promising. Not only will it help us have information, which ... can range from providing answers and setting expectations to hopefully leading to early diagnosis and early intervention, but the ultimate goal — are there some cases where we could completely prevent the disorder from manifesting in the child,” she said. “We are very hopeful and optimistic.”