From patient to Researcher
Living with rare disorder helped steer her life’s work
By Micayla Kinder
Shandra Trantham is a 21-year-old, first-year graduate student in the UF Genetics and Genomics Graduate Program hoping to find a cure for Friedreich’s ataxia, or FA, a rare neuromuscular disorder. But her interest in the disease started long ago.
When she was about 9 years old, Trantham began to have poor coordination and balance, which is one of the first signs that appear in children who have FA. She was diagnosed with the disorder when she was 12 years old. But instead of allowing the disease to restrict her, Trantham chose another course of action.
She decided to make FA research her life’s work.
Originally from Jupiter, Florida, Trantham received her bachelor’s degree in cell and molecular biology from the University of South
Florida in 2018. She chose to come to the UF Genetics Institute and apply to the Genomics Graduate Program because of the extensive
research being done at the Institute on FA.
“I decided to come to UF because UF is a big place for FA research,” she said. “They do clinical trials and they’re developing gene therapy. There’s also basic science work, too, and I really wanted to be a part of that.”Trantham and her colleagues are working hard to see that change.
“There’s no treatment for FA at the moment,’’ she said, “but there’s a lot of stuff in the pipeline.’’
Friedreich ataxia is an inherited genetic disorder that causes progressive movement problems and damage to the nervous system. FA is caused by a mutation in a gene labeled FXN, which carries the genetic code for a protein called frataxin.
People have two copies of every gene, with one copy being inherited from each parent. A person needs to inherit two copies of the defective FXN gene to develop FA. A person who inherits only one abnormal copy of the gene is called a carrier and is capable of passing on the gene mutation to his or her children. Abnormal FXN genes are carried by about one in 90 Americans.
Trantham has been working in a lab run by Barry Byrne, M.D., Ph.D., the director of the UF Powell Gene Therapy Center and a professor of pediatrics and molecular genetics and microbiology in the UF College of Medicine. This has been a dream come true for her.
“This is the lab that I applied to UF for,” she said. “The experience of being on the other side of drug development has been so cool. I used to only get to hear about these advancements as a patient, but now I get to be a part of the planning and development meetings.”
Her participation in this kind of research began long before arriving at UF as she has actively pursued FA research and fundraising opportunities since she was young.
“I’ve been a part of three different drug trials since I turned 18,” she said. “I’ve also traveled all over and participated in research conferences and have been able to connect with other people who have FA.”
Trantham recently participated in rideATAXIA in Orlando, which aims to raise funds for FA research. This event and ones like it empower communities and unify families who share the goal of finding a cure for the disorder.
Trantham said she was thrilled to discover a special bike called a RaceRunner that allows people to run without using their body weight. She has been able to borrow a RaceRunner several times this semester and with the help of a local organization called Watch Me Run, she recently acquired a RaceRunner of her own.
Trantham has adjusted well to her program and new home in Gainesville but her life has not been without challenges.
“Academically, things have been getting better,” she said. “It’s been getting easier to tie concepts together from my classes and research. Physically, it is hard to be disabled and doing a Ph.D. program. It’s just a lot of extra effort that people don’t really think about unless they have to deal with it.”
Though it hasn’t been easy, she continues to persevere and prove that she will not let her disability limit her or prevent her from achieving her dreams.
“It’s about focusing on what the outcome is,” she said. “I know that I’m working on my disease, so anything that I do to try to help figure out a cure, working on the treatments and everything, is going to be really beneficial in the long run, for all of my friends and for me.”