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Pioneering genomics approaches to develop targeted antisense oligonucleotides for treatment of patients with rare neurological disorders

This project is part of the Therapeutic Genomics Centre, a multidisciplinary programme of innovative approaches to treating rare genetic disorders and providing an enhanced training experience for DPhil applicants.

A day-old infant at Brooklyn’s Methodist Hospital, being held by her parents, as a machine helps her breathe.

Academic Supervisors: Prof. Jenny Taylor, Prof. Carlo Rinaldi

Other Supervisors: Prof. Matthew P.A. Wood

Host Dept: Centre Human Genetics, Nuffield Dept Medicine (NDM), Oxford

The increasing availability of whole-genome sequencing (WGS) data, from programmes including 100,000 Genomes Project (100kGP) and the NHS Genomic Medicine Service, is enabling genetic diagnoses to be made for many families with rare genetic disorders. Excitingly, this knowledge is now also providing an opportunity to treat these patients by targeting the genetic variants with nucleic acid therapeutics such as antisense oligonucleotides (ASOs).

We are developing bioinformatics approaches to proactively search these WGS datasets for genetic variants that could be amenable to ASO targeting, such as intronic cryptic splice site variants. We have already identified several candidate genetic variants (e.g., in SCN1A, COASY, and ALDH5A1) and are pioneering expanding this approach to multiple severe neurological disorders, in the first instance.

This project will build on these foundations by enabling students to further develop innovative bioinformatics approaches to search the WGS datasets for ASO-amenable genetic variants in Year 1 and in Years 2-4, to experimentally evaluate candidate variants generating data to support clinical development. The project integrates both computational and wet-lab approaches, offering a unique opportunity for a student to not only identify a genetic variant but also develop an ASO and potentially see it used in patient treatment during the course of the DPhil project.

Studentship code: MRCTGCORE2024001

Please read these guidance notes for detail on how to apply

Click here to apply: IPP login screen (ox.ac.uk)

For more information on DPhil in Paediatrics: DPhil in Paediatrics | University of Oxford

For more information about our MRC-Oxford Doctoral Training Programme see: https://www.medsci.ox.ac.uk/study/graduateschool/mrcdtp