Researchers at EMBL-EBI delve into the UK Biobank data to uncover new information about rare diseases of the eye. Researchers have conducted a thorough examination of image and genomic data from the UK Biobank to gain a deeper understanding of uncommon eye diseases. Among these diseases are retinal
Large-scale data enables new insights into rare eye disorders. Credit: Karen Arnott/EMBL-EBI
Researchers have conducted a thorough examination of image and genomic data from the UK Biobank to gain a deeper understanding of uncommon eye diseases. Among these diseases are retinal dystrophies, which is a collective term for hereditary conditions that impact the retina and also happen to be the primary cause of blindness among working-age adults.
“We had access to coupled images and genotype data at a scale that had not been seen in a study of this kind,” said Hannah Currant, former Ph.D. student atand Postdoctoral Fellow at the Novo Nordisk Foundation Center for Protein Research University of Copenhagen. “Access to this enormous amount of data was critical to the study and enabled us to identify genetic links to rare retinal dystrophies.
Some of these genetic variants were known to be linked to eye diseases, but surprisingly, a number of relatively common genetic variants were near genes known to cause rare genetic eye diseases when disrupted. In one case, the researchers were able to explore how combinations of common variants near genes known to be involved in rare eye diseases change the structure of the retina.
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