About the project
This project will evaluate whether chemically modified nucleic acids can be used to restore melanin production in oculocutaneous albinism (OCA), potentially reversing sight loss associated with the disease.
People with OCA have reduced melanin pigmentation of their 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 are classed as legally blind with visual acuity ranges from 20/100 to 20/400. Current treatments are supportive only and include correction of refractive errors, low vision aids, and extraocular muscle surgery. The WHO has identified treatments for albinism as a global priority.
You will use organic chemistry to design and synthesise new chemical modifications and evaluate whether these enhance the activity of nucleic acid therapeutics. These will then be used to target a common pathogenic variant which the Self group have identified as a significant contributor to OCA.
This project focuses on developing nucleic acid therapeutics for OCA, however the chemical modifications generated are likely to be applicable to many other diseases. This includes diseases that are rare, or currently considered ‘undruggable’.
During your studentship on this interdisciplinary project, you will receive training in the following organic and chemical biology techniques:
- synthetic organic chemistry
- solid-phase oligonucleotide chemistry
- biophysical and biochemical techniques
- biological assays in cell culture
During the first year of this Integrated PhD programme you will choose 3 rotation projects, alongside taught modules and practical training on an MRes. The following 3 years will be the Developing nucleic acid therapeutics to restore sight-loss associated with albinism PhD. You will have the opportunity to attend international conferences and training events.
