Brief Lay Background
Albinism is a group of medical conditions often passed down in families. People with albinism have less pigment (melanin) in their skin, eyes that do not develop properly, and lifelong sight problems. Up to one in a thousand people are born with albinism, but it varies a lot between countries.
It can be difficult to diagnose albinism because some people have near-normal levels of pigment in their skin and hair. So, it is likely that albinism is even more common than we think. The eye problems in albinism include low vision, sensitivity to light and nystagmus, and most people are registered as blind.
In some countries, there is still significant stigma attached to the condition and many people experience persecution or violence in addition to the disability the condition brings. Currently, no treatments are available and the WHO describes finding one as a ‘global health priority’.
What problem/knowledge gap does it help address?
Studies suggest that if treatment is given during the first few years of life, it is possible to reduce the vision problems caused by albinism. However, no treatments currently exist.
The team have recently screened 880 drugs for possible albinism treatment, and are now focussing on one specific compound that showed promise in this early work.
Aim of the research project
To investigate the potential of this compound as a treatment option for albinism.
Potential impact on people with sight loss
Albinism is a common reason for life-long blindness. It is present at birth so people with albinism live with it for their whole lives, meaning that it typically causes 80-90 yrs loss of vision, reduced quality of life, reduced access to work and financial dependence for many.
It affects between 1 in 1000 in some populations and 1 in 25000 in others worldwide. This project aims to identify drug treatments to take to pre-clinical trials in albinism to rescue lifelong visual loss, starting in early infancy for the first time.
Latest from our research blog
