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Evaluation of Next Generation Sequencing technolgies for genetic testing of rare ataxias
Evaluation of Next Generation Sequencing Technolgies for Genetic Testing of Rare Ataxias
The genetic diagnosis of cerebellar ataxias, which are a heterogeneous group of conditions characterized by a significant heritable component, represents a significant challenge. Mutations in individual ataxia genes explain only a small fraction of the sporadic ataxia cases, and the known genes, even with an increasing number of identified genes associated with ataxia, only explain approximately 50% of familial ataxias remain unexplained. In addition to point mutations, copy number variations (CNVs) (i.e. deletions/duplications) in known ataxia genes have also recently been demonstrated to play a significant role in the genetic diagnosis of ataxia. The large numbers of ataxia genes and the heterogeneous variety of genetic variation within these genes pose a formidable challenge in the genetic diagnosis of ataxia.
The broad long-term goal of this project is to identify novel genetic variants and genes that can help fully characterize the molecular basis of all ataxias. This group's central hypothesis is that comprehensive genetic testing for 20 known ataxia genes will identify mutations and CNVs in patients that have not been genetically classified even after extensive testing for all clinical available genes. The researchers will address their hypothesis via two specific aims: development of novel bioinformatic algorithms to detect CNVs; and characterization of the mutations and CNVs among known ataxia genes in cohort of patients with clinical diagnosis of ataxia.