Ataxia Telangiectasia, also known as A-T, is a devastating neuropediatric and genetic disorder for which there is no cure. Patients suffer from immune deficiency, cancer predisposition, and a progressive loss of motor capabilities (ataxia). They die within their first 3 decades of life. Our understanding for how the disorder, which is caused by deficiency in the A-T mutated (ATM) protein, has been hampered by a lack of suitable animal model that mimics the most characteristic aspects of the disease (e.g., ataxia). I will detail a new mouse model of A-T that develops many of the key characteristics of A-T, most importantly the progressive ataxia and associated defects and atrophy of the cerebellum. Additionally, I will present promising data on a novel therapeutic that has the potential to restore ATM production in A-T patients whose underlying genetic defect is a nonsense mutation.
1. Ataxia Telangiectasia (A-T), a rare multi system disorder characterized by immune deficiency, cancer predilection, and a severe, progressive loss of motor coordination (ataxia)
2. Readthrough therapies that enable translation of mRNA containing primary nonsense mutations