A Novel Mouse Model of Ataxia Telangiectasia for Testing Small Molecule Readthrough (SMRT) Compounds
Presented By: Paul Mathews, PhD
Speaker Biography: Dr. Paul J. Mathews received his bachelors degree from the University of Oregon where he studied invertebrate behavioral plasticity in the lab of Dr. Nathan Tublitz. He received his Ph.D. in neuroscience from the University of Texas at Austin under the mentorship of Dr. Nace Golding. Dr. Mathews work focused on understanding how the biophysical properties of specific voltage-gated ion channels in an auditory brainstem nuclei contribute to their capacity to make sub-millisecond computations necessary for low frequency sound localization. For the past several years Dr. Mathews has been working at UCLA under the mentorship of Dr. Tom Otis where he is currently working to uncover the cerebellar circuit mechanisms that underlie motor learning and memory.
Webinar: A Novel Mouse Model of Ataxia Telangiectasia for Testing Small Molecule Readthrough (SMRT) Compounds
Webinar Abstract: 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.
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