Developing nucleic acid therapeutics to restore sight-loss associated with albinism at University of Southampton

Project Title:  Developing nucleic acid therapeutics to restore sight-loss associated with albinism

Lead Institute / Faculty:  Medicine

Main Supervisor:    Dr Ysobel Baker

Other members of the supervisory team:   Dr James Self

Duration of the award:  

Start date:  25/09/2023

Project description:

Individuals with OCA have reduced pigmentation (melanin) of the skin, hair, and eyes. This has a detrimental effect on neurosensory retina development in addition to causing nystagmus, photophobia, abnormal decussation at the optic chiasm and iris transillumination defects. Most patients have visual acuity ranges from 20/100 to 20/400 (legally blind). Current treatment options for those with OCA are supportive only and include correction of refractive errors, low vision aids, and extraocular muscle surgery. Accordingly, identifying treatments for albinism is a WHO global priority.

In this project we will evaluate whether chemically modified nucleic acids can be used to restore melanin production in OCA, potentially reversing sight loss associated with the disease. We will use organic chemistry to design and synthesise new chemical modifications and evaluate whether these enhance the activity of nucleic acid therapeutics. We will then apply these to target a common pathogenic variant which the Self group have identified as a significant contributor to OCA. Whilst this project focuses on developing nucleic acid therapeutics for OCA, the chemical modifications generated are likely to be applicable to many other diseases, including rare and those currently considered ‘undruggable’.

This is an interdisciplinary project, and you will receive training in a range of organic and chemical biology techniques during the studentship. These will include synthetic organic chemistry, solid-phase oligonucleotide chemistry, biophysical and biochemical techniques, and biological assays in cell culture. The student will also have the option to attend relevant international conferences and training events.

The successful candidate will undertake the four-year Integrated PhD programme ‘Biomedical Science’.  The programme is 1 year MRes + 3 years PhD. In year 1 you will choose three rotation projects, alongside taught modules and practical training. In years 2-4 you undertake the Developing nucleic acid therapeutics to restore sight-loss associated with albinism PhD.

More information is provided here: 

https://www.southampton.ac.uk/medicine/postgraduate/research_degrees/degrees/iphd-biomed.page

The successful candidate is likely to have the following qualifications:

Applicants must hold a 1st class or 2:1 degree in chemistry or life-sciences. With a life-sciences degree, chemistry or biochemistry modules at undergraduate level are essential. With a chemistry degree, life-science modules at undergraduate level are essential.

Funding information:
Due to funding restrictions this position is only open to UK applicants.  This PhD studentship is fully funded for four years by Medical Research Council Doctoral Training Partnership programme and the Institute for Life Sciences, University of Southampton. Amount of stipend £18,154.00 plus fees at UK residency rate only.

Administrative contact and how to apply:

Please complete the University’s online application form, which you can find at:

https://student-selfservice.soton.ac.uk/BNNRPROD/bzsksrch.P_Login?pos=9978&majr=9978&term=202324

You should enter Dr Ysobel Baker as your proposed supervisor. To support your application provide an academic CV, two reference letters, official academic transcripts and a personal statement (outlining your suitability for the studentship, what you hope to achieve from the PhD and your research experience to date).

Informal enquiries relating to the project or candidate suitability should be directed to Dr Ysobel Baker (y.r.baker@soton.ac.uk)

Closing date:  31/05/2023