GREENWOOOD — When South Carolina philanthropist Jim Self agreed to fund an advanced genetics center 45 years ago, he had one stipulation.
“He said, 'You’re gonna put it in my town,'” said Lori Basset, a spokeswoman for the Greenwood Genetic Center.
Created in 1974, many South Carolina residents may not know that a highly advanced genetic center sits in the middle of small Greenwood, an Upstate city nestled between Columbia, Greenville and Augusta.
Since its creation, the center has helped more than 87,000 patients — the majority of them children — and developed a statewide network to study birth defects and rare disorders. Its experts are versed in topics ranging from intellectual disabilities to lysosomal storage disorders. And every year, they identify approximately 20 to 25 infants with rare genetic disorders and recommend a course for lifelong care in partnership with state agencies.
“These are rare conditions,” said Dr. Steven Skinner, the center’s director. “Most physicians may see one (case) in their whole lifetime.”
The Greenwood Genetic Center isn't directly tied to an academic institution or a hospital system, which allows the nonprofit to maintain a level of independence when it comes to the type of research its experts conduct. Its $25.9 million budget, which includes a $4.5 million investment from state contracts, pales in comparison to South Carolina’s largest health care providers.
And unlike the state’s biggest hospitals, which sit prominently in the heart of Charleston, Greenville and Columbia, the genetic center’s main campus is located discreetly at the end of a Greenwood street lined with smaller medical offices. The back of the building is surrounded by a forest of trees.
But its relatively low-profile masks the center’s importance. Almost every South Carolina child diagnosed with a genetic birth defect is referred here.
“A lot of people don’ t understand the hidden gem that we have,” said Charles Schulze, a Greenwood native and chairman of the Medical University of South Carolina Board of Trustees.
Schulze, who grew up with Jim Self’s children, said the philanthropist insisted on locating the genetics center in Greenwood because he wanted the city to benefit from his investment.
“He was a very private person who only wanted the best for his community,” Schulze said.
Rep. John McCravy, a Republican who represents Greenwood in the state Legislature, echoed Schulze’s sentiments. The genetic center in Greenwood is a source of local pride.
“They’re doing cutting-edge research,” McCravy said. “It’s just been an encouragement to our area.”
'Never on our radar'
Right around the time when Maddie Henry turned 2 years old, her parents began to notice some development problems involving vomiting, communication and mobility.
Initially, when Stefanie and Kevin Henry expressed their concerns about potential genetic abnormalities to Maddie’s doctors, they assumed she might just suffer from some sort of allergy.
Eventually, Maddie and her parents, who live in Ladson, were referred to the Greenwood Genetic Center.
Experts there were able to pinpoint the problem. Maddie was diagnosed with a genetic mutation associated with Rett Syndrome, an incredibly rare disorder that impacts brain development in girls. During the first few months of life, development can seem normal, but eventually a regression in motor skills and communication can occur. Symptoms can range from overall lack of mobility and seizures to consistent hand wringing.
“It’s difficult to realize that your child is not going to be like everyone else,” Stefanie Henry said.
Maddie’s diagnosis was devastating, but her parents were heartened by the expertise they were able to tap into at the Greenwood Genetic Center. They were also relieved to discover that Skinner, the center’s director, happened to be an expert in this particular disorder.
“Something like Greenwood Genetic (Center) was never on our radar," Stefanie Henry said.
“We definitely felt lucky,” her husband said, “for having something so close.”
The genetic center spends a significant portion of its resources diagnosing these types of genetic disorders. The facility has a molecular lab, a cytogenetics lab and a biochemical lab that all work in tandem to supply parents and patients with as much information as possible.
Once a disorder has been diagnosed, the center’s experts can then provide recommendations for treatments and therapies and connect families with other patients and national resources, often at no cost for pediatric patients.
When Maddie was diagnosed, for example, she immediately became part of a federal study through Greenwood Genetic Center. The goal of this study is to get a better understanding of the disorder throughout various life stages.
After Maddie’s visit in Greenwood, the Henrys said they felt a lot more relief than they did after getting her initial diagnosis. During their half-day clinical visit, they said they were able to get more information about what to expect in Maddie’s future.
Right now, she can use her hands and a touch pad for limited communication with pictures. She does have some tough moments. There are times where she struggles to communicate and screams out of frustration. Her parents said she may eventually require the use of an eye-gaze device to communicate.
“All of a sudden, in a day, it can be a profound loss,” Stefanie Henry said.
Finding answers for patients
The Centers for Disease Control and Prevention estimate that one in every 33 babies is born with a birth defect in the United States. In South Carolina, 1,800 babies are born with a birth defect each year, according to the S.C. Department of Health and Environmental Control.
Many of these defects are identified just after birth.
When babies are born, a blood sample is collected through a heel stick and sent to the state lab to be tested for 55 genetic conditions. Skinner said the state will likely add another three conditions to the screening panel this year.
Once a genetic disorder is identified, the Greenwood Genetic Center then immediately reaches out to families to provide service and education.
“With treatment, many of these patients can live normal functional lives,” Skinner said. “But it’s a lifelong treatment.”
Experts at the center are able to look at 20,000 known genes at one time thanks to advancements in new technology they’ve acquired.
“And that’s significantly increased our ability to find answers for patients and families,” Skinner said.
Dr. Jennifer Lee, the lead director at the center’s molecular diagnostic lab, credited better technology for improved detection rates. “We are always having to keep up,” she said.
Now, 60 percent of the time, the genetics center can provide families with answers.
Working with zebrafish
While most of its work is tied to identifying infants and children with genetic disorders, the Greenwood Genetic Center offers other services, too.
Parents who are planning to conceive a child can connect with the center to pay for testing to identify potential genetic mutations. The center can also help adults determine if any genetic issues are contributing to infertility.
Research is also one of the center’s primary missions. This includes an endeavor to establish a biological test for autism and the use of a zebrafish research lab.
Zebrafish share about 70 percent of the same DNA as humans, which make them useful in modeling rare genetic mutations.
“Our goal is to help as many children with as many different disorders as we can,” said Dr. Heather Flanagan-Steet, a research director at the Greenwood Genetic Center.
She explained that the center’s hope is to find commercially available medications, already approved by the FDA, to treat symptoms associated with these disorders. Developing new drugs takes much more time and money.
Still, it can take years before experts at the center make a breakthrough. They recently acquired some zebrafish with Rett Syndrome, she said, but it will probably take three months before they will even be able to mate them.
“It really depends,” she said. “Some projects can move a lot quicker.”
In the meantime, Skinner said the center wants to continue to educate the public. Experts there are now networking with schools to teach children about the work they do and genetics, more broadly.
“It’s almost like a public health genetics approach,” Skinner said.