Types of genetic testing
This page explains the different types of genetic tests: diagnostic testing, predictive testing, carrier testing and research testing
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This page explains the different types of genetic tests: diagnostic testing, predictive testing, carrier testing and research testing
Mini-retinas are essentially mini eyeballs in a dish. They contain all of the cell types in the human retina and we can perform many experiments on these to figure out the missing pieces in the puzzle.
Progress towards treatments for inherited retinal conditions continues to gather pace and there’s been lots going on in the last few months, with more and more approaches being explored. This round-up gives a flavour of the variety of developments, including plenty that are not specific to a particular genetic fault.
A recently published study has described numerous disease mechanisms that appear to be common across different types of inherited sight loss, suggesting that there is significant potential for drug treatments that could work regardless of the underlying causative gene.
This edition includes exciting news about our Annual and Professionals’ Conferences. We hope as many of you as possible can join us in Manchester, or online, in September. You’ll also find updates about the latest research and a feature on one of our funded researchers, Dr Jörn Lakowski.
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Early 2020 marked an important milestone for the Retina UK community, when the first person with an inherited retinal condition received NHS treatment to potentially slow or even stop the progression of their sight loss.
The cover of this edition celebrates the success of our amazing London Marathon team. Together they have raised more than £43,000.
X-linked inheritance means that the faulty gene is located on the X chromosome, the larger of the two sex chromosomes.
Researchers have developed PEDF-based eye drops that show promise in slowing retinal degeneration in mice with retinitis pigmentosa, potentially offering a non-invasive treatment option for preserving vision in the future.