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FARAFARA Cure FA

A gene expression phenotype in lymphocytes from friedreich ataxia patients

Gene expression studies in peripheral tissues from patients with neurodegenerative disorders can provide insights into disease pathogenesis, and identify potential biomarkers, an important goal of translational research in neurodegeneration. Friedreich Ataxia (FRDA) is a chronic neurodegenerative disease caused by reduced transcription of frataxin, a ubiquitously expressed protein. We studied in vitro lymphocytes from FRDA patients and carriers to identify a peripheral gene expression phenotype. Peripheral biomarkers related to disease status would be extremely valuable for assessing drug efficacy and could provide new pathophysiological insights.

A gene expression phenotype in lymphocytes from friedreich ataxia patients


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Jen Farmer

Jen Farmer

Executive Director

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