When Research is Personal: A GM1 Gangliosidosis Story

Cassie Bebout is an Auburn University undergraduate student, on track to graduate this May. She chose the school for one primary reason- it is the home of Dr. Doug Martin and his research in GM1 gangliosidosis. GM1 is a rare condition similar to Tay Sachs disease and Sandhoff disease. It’s caused by a deficiency in the ß-galactosidase enzyme. This results in the buildup of toxic molecules in the body which slowly destroy the nervous system. The condition is sadly fatal, as there are currently no approved therapies that effectively treat it.

Why is Cassie so interested in this rare condition though you might wonder? Her own brother, Jake, died from GM1 at age 9. Since then, Cassie knew she wanted to dedicate her life to finding a cure.

Joining Dr. Martin’s Team

Cassie actually learned about Dr. Martin’s research by chance thanks to her and her family’s continued connection to the GM1 community following Jake’s death. She found an article on Facebook, shared by a GM1 family, that was discussing Dr. Martin’s research and she knew she had to be involved.

The summer before her senior year of high school, Cassie had the opportunity to intern for Dr. Martin. Upon graduating, she received a Presidential Scholarship to study at Auburn. She’s now living her dream, as Dr. Martin has given her the opportunity to be a part of every phase of his GM1 research since her arrival on campus.

Dr. Martin, in collaboration with Dr. Sena-Esteves of UMass Medical school have uncovered a gene therapy using adeno-associated virus (AAV) that they believe could treat GM1, Tay Sachs, and Sandhoff disease. They are now working with Axovant Gene Therapies to complete clinical trials of the therapy at the NIH.

Cassie herself had the opportunity to intern at the NIH last summer, working with Dr. Cynthia Tifft who is leading the human clinical trial for GM1. Dr. Tifft has discussed the value of Cassie’s contributions to the team’s research. She said that they would not have stayed on track for submitting their Investigational New Drug application for GM1 had it not been for Cassie’s work ethic and persistence.

A Hopeful Future

Dr. Martin is so hopeful about this therapy because at Auburn, it has proven successful in a cat model of the disease. The treatment was able to extend the lives of the animals and improve their quality of life. We are all anxiously awaiting to hear results from the human clinical trial for GM1 and see the future of this gene therapy.

As for Cassie, she plans to go on to medical school after she graduates Auburn. She is thankful for the experience she gained working with Dr. Martin which prepared her for this next step and she’s excited to see where it takes her. Fueling her passion for continuing her research, is of course, her brother Jake.

“It is absolutely inspiring to see where my parents were, and how difficult it was for a diagnosis, to the hope we have today for a cure. I think Jake would be looking on us with a smile.”

You can read more about Cassie Bebout and her inspiration here.

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