EyesOnGenes campaign: How genetic testing can improve diagnosis and treatment of inherited retinal diseases

Lai was 12 when she first noticed that she wasn’t able to run and play as easily as her friends but wasn’t diagnosed until years later – she had a genetic eye test in 2010 that confirmed her disease. Her mother in Taiwan also has the disease and lives independently, and her brother, in his mid-40s, was recently diagnosed as well.

Adapting to disability and getting creative in how she does things – along with learning Braille with her kids, seven and nine – is part of her day-to-day mindset.

“I think it’s a test of being more patient with yourself and having more self-compassion. I can’t sight read as fast as I would like to or have previously done, but that’s okay,” she says of playing cello by ear and memory instead of reading notes on sheet music.

“You don’t focus on the loss. You focus on the gains and teaching your children to have more compassion.”

Lai is sharing her story

in a video

for a new campaign supported by Fighting Blindness Canada to spread the word about the availability and importance of genetic eye testing (which is publicly funded in all provinces and territories). The information hub at

EyesOnGenes.ca

 was developed by Johnson & Johnson Canada.

Genetic eye testing takes a sample of your DNA, from blood or saliva like a cheek swab, and examines it in a lab to try to identify changes or mutations that have caused vision loss. The testing for inherited retinal diseases has made significant strides over the last decade, as scientists have discovered more than 300 genes responsible for these diseases.

As Fighting Blindness Canada points out

, some inherited retinal diseases like choroideremia or X-linked retinoschisis are caused by one or only a small number of genes, while others are caused by many different mutations in many different genes. To date, more than 64 genes have been identified that cause retinitis pigmentosa. But for many people, the gene responsible for their condition has not been identified yet.

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