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To investigate neurodevelopmental and neurogenetic diseases through translational genomics.
#genetics #neurobiology #informatics #autism #Genomicmedicine
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To investigate neurodevelopmental and neurogenetic diseases through translational genomics.
Our latest study has now been published online in Nature, addressing an important question:
How many patients with genetic disease might be potentially amenable to therapeutic intervention via an individualized ASO approach?
We tackle this question by focusing on a specific subclass of ASOs – splice-switching oligonucleotides that alter patterns of gene splicing, like nusinersen and milasen – in a cohort of individuals with ataxia telangiectasia (as a representative, recessive genetic disorder).
