Shandra Trantham has Friedreich's ataxia (FA), a rare genetic disease that is slowly robbing her of the ability to walk and talk, and can also affect her heart. FA is caused by an inability in the body to make frataxin, a protein that is necessary for normal cell function. To date, there is no cure and no approved treatments — but she's working on one. She's a 4th-year Ph.D. candidate in genetics and genomics at the University of Florida Powell Gene Therapy Center. Trantham works in a lab where gene therapy for FA is being fine-tuned.
Barry J. Byrne, MD, Ph.D., chief medical advisor of the Muscular Dystrophy Association and associate chair of pediatrics and director at the University of Florida Powell Center for Rare Disease Research and Therapy, talked with NeurologyLive about the virtual telethon to create awareness for a number of neuromuscular diseases.