By Rosie Kereston
Shandra Trantham, a fourth-year student and PhD candidate in the UFGI Genetics & Genomics Program, was recently announced as the winner of the 2021 Kenneth & Laura Berns Excellence in Genetics Award. Typically, the winner is announced at the annual Genetics Symposium, but this year it was announced virtually on December 21st, 2021.
This award, established through the generosity of former UFGI Director Dr. Kenneth I. Berns and his wife Laura Berns, recognizes a Genetics & Genomics Program graduate student for a significant contribution to the scientific community, such as a publication or other scholarly product, in the preceding year.
Trantham was nominated by her mentors from the Department of Pediatrics: Dr. Manuela Corti, assistant professor and associate director of the PGTC Clinical and Translational Programs, and Dr. Barry Byrne, professor and director of the Powell Gene Therapy Center.
“It was a surprise,” Shandra Trantham explained. “I did not know that I had even been nominated.” Once the announcement was made, she began to receive messages of congratulations, only then discovering that she had won.
Dr. Corti and Dr. Byrne stated that rather than focus on a particular scientific publication, they wished to nominate Trantham for her advocacy work regarding science and the patient perspective in genetic research.
Unlike most researchers, Trantham has direct experience with one of the uncommon diseases she studies. She has a rare recessive genetic disorder called Friedreich’s ataxia (FA) which damages the nervous system, progressively impacting her motor skills and energy. She is determined to find a treatment for herself and others like her.
This degenerative disorder affects 1 in 50,000 people and Trantham is one of them, making her dual position as disease researcher and patient a very important one.
“As a patient with Friedreich’s ataxia and as a scientist, she brings a unique perspective to her program, classmates, work colleagues, and the public through her advocacy work,” her mentors explained. “[Trantham] demonstrates the power of a commitment to understanding the mechanistic details and genetic basis of her project through the eyes of a patient herself.”
TECPR2-Associated Disease Research
Currently in the lab, Trantham’s primary research project is developing a treatment for an even rarer but similar neurodegenerative disease to FA: TECPR2-associated disease.
“This disease causes degeneration of the nervous system, so [children] have symptoms like trouble walking and breathing, and other types of developmental delays. It gets progressively worse over time and there is no known treatment for it. Right now, we know of 27 patients with TECPR2 disease in the entire world. Since it’s so rare, there’s probably more out there who haven’t been diagnosed. The patients we know of had exploratory whole exome sequencing and TECPR2 came up.”
Trantham is defining and understanding the intricacies of the TECPR2 gene and how its mutation prevents the important TECPR2 protein from being produced effectively. This protein is associated with the integral, intracellular function of autophagy, which when interrupted or non-functional, can lead to many problems- especially within neurons.
A treatment could be on the horizon: Trantham is developing a gene therapy treatment using a virus that carries a healthy copy of the gene in question. By injecting the virus into a patient, the virus subsequently moves throughout the body and infects target cells with the healthy gene. The patient should then be able to make the protein they are missing because their body gained a functional copy of the genetic instructions.
This research into TECPR2 did not start as projects typically do. In late 2019, a family from South Florida was reaching out to researchers around the world to see if anyone was interested in finding a cure for their son who was diagnosed with the rare TECPR2 associated disease.
Dr. Byrne, one of Trantham’s mentors, wanted to pursue these answers, so the family made a significant donation to get the research project started.
“Prior to this, my lab did not do work on this mutation,” Trantham said. “When I first started this research in 2020, there were barely any papers on TECPR2- maybe five total, if we are being generous.”
The underrepresented nature of this disease means that even if the disease has been documented, important aspects may remain unknown until someone like Trantham researches the details.
“We didn’t know much about this disease at all. How many people with TECPR2 mutations are affected, how these mutations affect the resulting protein, and how we can treat the disease are just some of the questions we aim to answer,” Trantham explained. It is also unknown how the lack of this particular protein affects the neurological system and how correcting the issue could affect the rest of the body and the damage already done by the disease.
Trantham has begun to answer these questions, paving the way for future research in this rarely addressed area. “I was starting from absolute scratch. Now, in just two years of research, I am at the point where I have designed all these gene therapy constructs that are actually being created and tested in cells and mice in the lab. It's really amazing how far the project has come in a relatively short amount of time.”
In addition to her academic successes, Trantham was nominated several months ago by local news station WCJB TV-20 as a ‘Hometown Hero’ and was featured for her research work and dedication.
People magazine picked up the story, and this past December, Trantham was featured on a larger scale, drawing positive attention to her research and advocacy networks.
Several people have since contacted her to learn more about her research on TECPR2 and FA. She also had someone reach out and donate to FARA after being moved by the People article.
FA Outreach and Advocacy
FARA, the Friedreich’s Ataxia Research Alliance, is the patient advocacy group for Trantham’s disorder. She spends much of her free time volunteering for FARA, connecting the FA community to relevant scientific milestones and research and building up the patient-researcher connection.
She recognizes the need for honest and clear communication between patients and researchers, as she knows firsthand “what it’s like to not have answers.”
“I am actually a part of a project that is creating an educational animation series to explain the scientific grants that FARA funds in a simple, effective way that patients can understand. I also do a lot of community outreach work to bring attention to FA and similar disorders.”
Trantham also does advocacy work within the government, meeting with different representatives and bringing to their attention important issues that affect people with rare diseases like FA.
She advocated with Congress twice last year for ACT for ALS, a bill that increases funding for research and development of neuromuscular disease treatments through a new FDA research grants program. It also supports access to therapy options for those living with ALS and similar diseases.
Thanks to her and many others speaking up and educating the public about these diseases, the Accelerating Access to Critical Therapies for ALS Act was signed into law this past December. “I feel like I was a part of that success,” Trantham said.
While Trantham has a unique personal stake in her own research, she also loves the field of genetics and being directly involved with research.
“I feel like genetics holds the answers to absolutely everything going on in the body. For example, there are plenty of diseases that we don't know the cause of yet and it will probably come down to the genetics of the patient.”
“The drive and spirit she exemplifies have been the cornerstone of Dr. Berns career as an innovator and educator,” her mentors stated. “We believe Shandra is a well-deserving recipient of the Kenneth I. Berns Award.”
“I want to always be learning and adapting,” Trantham said. She explained that genetics has taught her that the more you learn, the less you realize you know about a topic. In addition to finding a treatment for FA, being a part of such an ever-evolving field of research has also always been a goal of hers.
“The answers to all of life’s biological questions ultimately come down to your genes,” Trantham stated. “I think it's really amazing: we have a master dictionary for the body available to use. We just don't know how to fully read and understand it yet.” ∎