STEP BY STEP
When Tarah stepped back into the classroom in January 2019, she wanted hands-on research, and she wanted to start immediately.
As a researcher into canine genetic diseases, Starr-Moss knows firsthand the importance of the research process. Tarah had found her research advocate. “I like to get students into the lab as soon as possible. Even freshmen can get into the research labs,” says Starr-Moss. So, she began at the beginning for Tarah — study of the metabolic process.
Starr-Moss describes the metabolic process like an assembly line. A mutation anywhere along the line stops the process cold. Associate professor Paul describes it this way: “It’s like a Rube Goldberg machine, and one little thing gets off and the whole thing stops. Then you get something like balls piling up representing bad metabolites that do bad things.”
The good news, Starr-Moss says, is that, “We have the ability, in metabolic diseases specifically, to correct underlying defects. If we bypass the broken step in this ‘assembly line’ and put in an intermediate product, then the rest of the pathway can function.” A cure for Drake would involve delivering DNA by way of a carrier called a vector that has been genetically engineered to deliver the gene therapy.
Starr-Moss advised Tarah to join Paul’s lab that was studying metabolism, specifically fatty acid metabolism in African trypanosomes (tropical parasites). Paul knew her research was not an exact fit, but after Tarah emailed her Drake’s story, she knew she had to help. “Even though my research is not on glycine metabolism, we work in metabolism. It is not human metabolism,” says Paul. “But she could learn research protocols for her ultimate goal while learning more about the metabolic process.”
Paul says she found Tarah to be very focused and serious about her work. “She is the most fundamental student. She is here seeking knowledge and experience, which is how universities got started in the first place.”
Tarah jumped into the lab and began learning everything she could about metabolism.
Paul says offering to help Tarah is common at Clemson: “It’s the Clemson Family way of thinking. Family matters a great deal around here, and we try to make adjustments. That concept of family is why, I think, she has gotten so much understanding. It is because the faculty thinks, ‘Oh, I get it. You’re fighting for your kid. We understand. What can we do to help?’”

SO CLOSE
The cure for NKH is simple to say and complicated to do. As Paul says, “First you have to get the fix that will work. And then you have to get the fix to the right location in order for it to work.”
Multiple challenges stand along the way. The single affected gene in NKH can have 400 mutations. Determining exactly what is missing in the gene that carries NKH is painstakingly difficult. Then there are the steps of creating the gene product and developing a vector that will cross the very resistant protections surrounding the brain to reach the affected gene. Any proposed treatment would have to go through multiple levels of testing and clinical trials before approvals. The treatment seemed years away.
But Tarah doesn’t give up. “When you watch a child go through what Drake has gone through for months and now years, you will dig to China if you can figure out a way to help him,” she says.
Tarah located a researcher who had demonstrated success in delivering gene therapy in the treatment of non-NKH metabolic diseases. When she contacted him in 2018, he told her that he was changing research institutions. Tarah agreed to give him a year to get established in his new facility and for the O’Sullivans to determine if gene therapy was the best course forward.
If this researcher thought he would never hear from Tarah O’Sullivan again, he was wrong. One year after her initial contact, she called to tell him Drake was still very much alive, and that their research and observations had convinced them that gene therapy held the greatest promise for a cure. Even though the doctor had a full research agenda, their persistence paid off, and together they made a plan. The O’Sullivans needed to raise $3 million to fund the research project: First, they needed to raise $70,000 to begin research to create the vector for delivery of the gene therapy. In the spring of 2019, Tarah and Eric built a website savingdrake.com that caught the eye of a friend who created a number of billboards in the Greenville area, which in turn caught the eye of television stations WSPA and WYFF who aired the news story. In just 10 days, they raised $70,000, and Tarah, Eric and Drake flew to Texas to meet with the researchers.
After returning, the O’Sullivans are continuing to raise money to begin the laboratory research necessary for FDA approvals in order to move the treatment into patient trials ($300,000 needed) and to begin the clinical trials necessary for final approval of the treatment ($3 million needed).