The University of Alabama at Birmingham researchers have received funding to seek and validate biomarkers for Friedreich's Ataxia with a two-year, $140,000-a-year grant funded by The Friedreich's Ataxia Research Alliance (FARA) and FARA Ireland.

Discovery of validated biomarkers is a high priority because they are invaluable to help speed the development and clinical evaluation of potential drugs. FARA's treatment pipeline already includes nine potential drugs or treatments that are in human clinical trials, seven more that are in preclinical testing, and four others in the early discovery phase.

Marek Napierala, Ph.D., assistant professor in the UAB Department of Biochemistry and Molecular Genetics, UAB Stem Cell Institute, and Jill Butler, Ph.D., instructor in Biochemistry and Molecular Genetics, are co-investigators. ‪

In preliminary work for the grant application, Butler and Napierala looked at RNA gene expression in patient and control fibroblast cells. They identified several gene expression variants as candidate biomarkers, and they now are working to validate those candidates in neuronal and cardiac Friedreich’s ataxia cell line models and to adapt these biomarkers for routine testing in a clinical setting. They measure protein expression levels using reverse phase protein arrays, and they have future plans to look for changes in microRNAs in the Friedreich’s ataxia cells. MicroRNAs are short sequences of RNA that act as robust agents of gene regulation in cells.

“For this research to be successful and make it to the clinic,” Napierala said, “the test or measurement needs to be easily done.” Ideal biomarkers also have to be safe, cost effective and easily adapted from research laboratory testing to the clinic.

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