Li Yanjie, Polak Urszula, Clark Amanda D., Bhalla Angela D., Chen Yu-Yun, Li Jixue, Farmer Jennifer, Seyer Lauren, Lynch David, Butler Jill S., and Napierala Marek. Biopreservation and Biobanking. August 2016, 14(4): 324-329. doi:10.1089/bio.2015.0117.
Although classified as a neurodegenerative disease, Friedreich’s ataxia presents with a plethora of clinical symptoms, including ataxia, sensory abnormalities, heart dysfunction, diabetes, and auditory and visual loss.The variable number of GAA repeats among FRDA patients contributes to the clinical variability of the disease. Clinicians and scientists studying orphan diseases face the specific challenge of limited access to biospecimens due to the small number of patients suffering from the particular condition. Creating biorepositories of well-characterized patient samples and cell lines available for academic as well as commercial institutions is critical for developing successful therapeutic strategies to combat rare diseases.
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