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Genetic testing: an essential topic for discussion with the IRD community
As Luxturna reaches the clinic and other gene-specific therapies for inherited retinal disease get closer to the end of the development pipeline, it is becoming ever more important that affected families can access a genetic diagnosis, potentially opening up choices around treatment and clinical trial participation.
Genetics and gene therapy
When we talk about gene therapy we are usually referring to use of a harmless virus, called a vector, to deliver a normal copy of a defective gene into the cells of the eye.
Genetic testing
Genetic testing, usually via a blood sample, is used to try and identify which gene contains the fault that is causing an individual’s sight loss.
Meet a Researcher: Dr Rachel Taylor
Dr Rachel Taylor is part of the UK Inherited Retinal Dystrophy Consortium (UKIRDC) team at the University of Manchester.
Meet a Researcher: Dr Jenny Dewing
Jenny Dewing is a postdoctoral researcher working on a Retina UK-funded project with Dr Arjuna Ratnayaka at the University of Southampton.
Meet our community: Russ Stephenson
Russ was diagnosed with Choroideremia at the age of 11, after visiting caves in Spain and not being able to see anything.
Meet our community: The Kearney family
Emily Kearney is mum to four boys, aged four to 13, two of whom are living with an inherited sight loss condition.
Meet our community: Mark Baxter
My name is Mark Baxter and from an early age I was diagnosed with a deteriorating retinal eye condition called retinitis pigmentosa or RP for short, which will slowly lead to blindness.
Meet our community: Simon Lakin
Simon talks about his experience of genetic testing and counselling.