Hearing and Sight GeCIP Domain

Description

Background: Over 180 genes for inherited eye disease have recently been discovered. This can make a molecular diagnosis difficult, as many genes need to be sequenced to find the specific cause of a family’s disease.

Whole genome sequencing (WGS) overcomes this by sequencing all genes at the same time. WGS also means it is possible to find previously ‘hidden’ changes in genes, as well as new genes, which could be causing disease.

The eyes and ears are easy to examine. For example, direct imaging of cells in the eye is possible. This means that a molecular diagnosis can be linked to detailed information on structure and function of the ear or eye.

Information from the 100,000 Genomes Project will inform ongoing treatments and future clinical trials.

Aims: For patients with changes in genes already known to cause eye or ear disease, the group will determine the detailed their characteristics. This will improve understanding of the cause of disease, as well as enable researchers to find best the measures of success in clinical trials.

The group will also look for uncommon changes in genes already known to cause eye or ear disease. And they will look for new genes that could be the cause of eye and ear disease.

In many inherited eye and ear diseases, there is a great variability how severely someone is affected – even if they have the same gene change. The group will look at why this is the case – which will help in studies to develop new treatments.

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