Brief plain language background
Albinism is a group of inherited disorders characterised by reduced amount of melanin pigment, or no melanin at all, in their cells. In the iris of the eye, this lack of pigment causes numerous problems with vision – usually resulting in lifelong, severe sight impairment.
The most common form of albinism is known as OCA1, caused by faults (mutations) in the gene called TYR.
What problem/knowledge gap does it help address?
Treating the underlying, genetic cause of albinism early on could prevent some visual impairment, however, no drug treatments currently exist.
Developing a treatment requires specially designed tests called assays, which help to evaluate the effectiveness of different drugs.
The researchers have previously developed a cell-based assay of albinism, which carries the faulty copy of the causative gene. Introducing a healthy version of the TYR gene led to the cells rapidly becoming pigmented, whereas adding the faulty version had the opposite effect.
Aim of the project
To use the assay of albinism to identify drugs that increase pigmentation.
This project also aims to further the career progression of the applicant, as amongst other benefits, the findings could form the basis of future fellowship applications.
Key procedures/objectives
- Add different compounds to cells with faulty TYR, healthy TYR, and a control used for comparison.
- Carry out absorbency tests to identify which compounds can increase the production of melanin.
Potential impact on people with sight loss
Whether or not compounds that increase melanin production are identified, the findings of the study could improve the understanding of how the TYR mutations behave. Improving the knowledge base could act as a catalyst for further research and exploration of potential drug treatments for OCA1, where none currently exist.
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