Vamsi Mootha Institute Member and Co-Director of the Metabolism Program, Broad Institute of MIT and Harvard; Professor of Systems Biology and Medicine, Harvard Medical School; Professor of Medicine, Department of Molecular Biology, Massachusetts General Hospital; Howard Hughes Medical Institute Investigator Gary Ruvkun Associated Member of the Metabolism Program, Broad Institute; Professor of Genetics, MGH and HMS David Liu Richard Merkin Professor and Director of the Merkin Institute for Transformative Technologies in Healthcare, Core Institute Member, Broad Institut; Professor of Chemistry
Often diagnosed during childhood, patients with FA typically show loss of coordination in their arms and legs (ataxia), lose the ability to walk, and suffer from a host of other conditions, such as scoliosis, heart failure, diabetes, and vision and hearing loss. This recessive disease is caused by an expansion of trinucleotide GAA repeats in DNA sequence within the frataxin gene (FXN). While the genetic basis of FA has been known for more than 20 years, there are still no approved therapies for patients, and basic questions about the mechanisms of disease remain unanswered.