We are excited to announce our lab, along with a consortium of collaborators lead by the Broad Institute, has been selected to receive funding from the Advanced Research Projects Agency for Health (ARPA-H) under its THRIVE program. The award will fund the Pediatric Epilepsies and Rare CNS (PERC) Gene Editing Platform.

Our latest publication in Nature Medicine describes an ASO developed for KCNT1 epilepsy

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).