The grant will be used to examine how proteins in cells are made and their impact on inherited diseases such as muscular dystrophy and ataxia, a rare brain disease that impacts a person's coordination and motor control. Led by Center for NeuroGenetics director Laura Ranum and associate director Maurice Swanson, the study will further new research from Ranum and her team that suggests there are disease-causing genes hidden within the human genome.
According to Swanson, 50 percent of human DNA is made up of repetitive sequences, called genomic stuttering, which historically have been dismissed as unimportant information. "The discovery that unusual, potentially harmful proteins are translated within these regions adds another layer to the basic biological process," said Swanson. "The discovery leads to a whole new way of looking at disease."
The grant from the foundation will enable the researchers to determine how this repeat-associated non-ATG translation, or RAN translation, works and whether it is a key to neurological disease, as well as whether other repetitive sequences in the genome are translated into proteins. "This prestigious award is significant news for the university," said UF medical dean Michael L. Good. "It is very exciting that an influential organization such as the W.M. Keck Foundation recognizes the strength of the research program at the College of Medicine, particularly the cutting-edge expertise of Dr. Ranum and Dr. Swanson and their colleagues."