Gene therapy for color blindness

How’s this for weird? This past semester I did a paper on color blindness, citing the different types, where the mutations occur, and the newest research. I was just about to post about one specific breakthrough when I got distracted by a list of the top scientific breakthroughs of 2009. As it turns out, number one has to do with gene therapy.

Two boys with X-linked adrenoleukodystrophy, a disease that ravages the brain, are doing well after French doctors gave them a gene that helps to maintain the delicate myelin coating on their nerve cells. A woman with Pachyonychia Congenita, a painful skin condition, watched one of her sores fade after doctors switched off the offending protein with a newer kind of gene therapy called RNA interference. Twelve patients who were blinded by Leber’s congenital amaurosis showed signs of recovery after getting a genetic treatment in one of their eyes. Italian researchers announced that most of the 10 patients who received gene therapy for severe combined immunodeficiency, or “bubble boy disease,” are doing very well eight years after the procedure that repaired their defenses against infection.

I especially love the implementation of RNAi. I strongly suspect its use will only increase in the coming years, especially in the fight against cancer.

Also this year, researchers at the University of Washington cured two adult monkeys of colorblindness by giving them injections of a gene that produces pigments necessary for color vision. After the treatment, the animals scored higher on a computerized color blindness test.

This one hits especially close to home. I also ‘suffer’ from color blindness, so I find it incredibly uplifting that I may not feel like I’m missing out on the things everyone else is seeing for the rest of my life. It isn’t that I can’t see color – I can – but colors become far less vibrant to me in lesser lighting. This happens to all humans, but it happens to those with color blindness sooner. I also cannot make fine distinctions, like the ones you see (literally) in the Cambridge Colour Test for color blindness. Take this for instance.

Most people will see a “6″ there. I can make out some discoloration and the vague shape of a 6, but I wouldn’t be able to guess it without already knowing what to expect. I am likely deuteranomalous. It’s a pretty common type of color deficiency and it doesn’t especially affect daily life – I didn’t know I had it until 3 or 4 years ago during a routine eye exam (which I no longer need thanks to LASIK).

(And blah blah blah your monitor may suck or you may suck at coming up with a balanced coloring, so that test may not show up correctly in the first place.)

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