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Splice modulating therapies for human disease.

Pietro Spitali1, Annemieke Aartsma-Rus

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Dysregulation of splicing, a process altering gene expression, causes many diseases. Therapeutic strategies are emerging to correct splicing errors, offering new treatment possibilities for genetic and acquired conditions.

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Area of Science:

  • Molecular Biology
  • Genetics
  • Therapeutics

Background:

  • Splicing and alternative splicing are crucial gene expression processes.
  • Dysregulation of these processes is implicated in numerous genetic and acquired diseases.
  • Targeting splicing offers a promising therapeutic avenue.

Purpose of the Study:

  • To provide an overview of recent therapeutic strategies for modulating splicing.
  • To highlight successes in clinical and preclinical contexts.
  • To discuss approaches for generating beneficial proteins and removing deleterious ones by targeting splicing.

Main Methods:

  • Review of recent literature on splicing modulation therapies.
  • Analysis of clinical and preclinical data.
  • Categorization of therapeutic strategies based on their mechanism of action.

Main Results:

  • Several strategies effectively modulate splicing therapeutically.
  • Approaches include restoring open reading frames, influencing alternative splicing, and inducing exon inclusion.
  • These methods aim to produce functional proteins or eliminate harmful ones.

Conclusions:

  • Therapeutic splicing modulation is a rapidly advancing field.
  • Successful strategies are being translated to clinical and preclinical settings.
  • Targeting splicing holds significant potential for treating a wide range of diseases.