Antisense oligomer-mediated intervention in inherited disease: new targets, mechanisms and challenges

Lucy Barrett

    Research output: ThesisDoctoral Thesis

    515 Downloads (Pure)

    Abstract

    [Truncated] Despite rapid advances in science and medicine over the past few decades, many inherited diseases do not yet have an effective therapy, and when drugs are available these generally address particular symptoms, rather than targeting the underlying cause of the disease. Patients with inherited rare diseases, in particular, have unmet needs; they often lack timely diagnosis, disease pathogenesis may be complex and poorly understood, and treatment and management options are limited.

    The completion of the human genome project in 2001 revealed that increasing genetic complexity is associated with an increase in the relative amount of non-coding DNA, rather than an increase in the number of coding genes. We now know that the genome is pervasively transcribed, and that non-coding RNA plays a major role in controlling gene expression. Non-coding RNA molecules control many processes in the cell, including translation and splicing, and can or up- or down-regulate the expression of specific isoforms. Genetic therapies targeting these regulatory processes have the potential to ameliorate the effects of mutations that are evident at the RNA level. Importantly, such therapies may be designed to act more specifically and effectively than treatments directed to the protein products, depending upon the mutation and disease mechanism. Interventions aimed at regulatory processes, such as synthetic DNA or RNA molecules that manipulate gene expression, offer potential strategies for disease modification.

    Original languageEnglish
    QualificationDoctor of Philosophy
    Publication statusUnpublished - Jul 2014

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