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2017 AAC - Advances in the Genetic Diagnosis of the Cerebellar Ataxias
Автор: National Ataxia Foundation
Загружено: 2017-05-09
Просмотров: 9719
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Ataxia is a common neurological symptom associated with hundreds of rare genetic conditions. For many patients with genetic cerebellar ataxia, it may take years or decades to ultimately identify the cause. Dr. Brent Fogel shares the recent availability of new advances in DNA sequencing and their widespread clinical application is leading a wave of discovery for new ataxia genes and other related genetic conditions. The route use of these technologies will enable in the delivery of precision healthcare to ataxia patients, first through rapid diagnosis and, ultimately, through disease-targeted and gene-specific therapies.
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