Autosomal dominant inheritance
Autosomal dominant inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that only one faulty copy is needed to cause sight loss.
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Autosomal dominant inheritance means that the faulty gene is on an autosome (any chromosome other than the sex chromosomes) and that only one faulty copy is needed to cause sight loss.
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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Prof Mariya Moosajee at Moorfields Eye Hospital has asked us to share the message below about the clinical trial she is running. This trial is for a treatment that targets a particular section of the USH2A gene.
Choroideremia is a rare genetic condition resulting in progressive sight loss in men.
The FDA has given Ocugen permission to start their phase 3 gene therapy clinical trial for retinitis pigmentosa (RP).
Retina UK aims not only to progress research along established threads, but to stimulate new thinking, encourage innovative approaches and nurture original ideas.