I don’t know about you, but by 2021 I always hoped that
the scientific community could have made some seriously cool progress with gene therapy … you know, really unlock the gene pool sci-fi style.
I’m talking about the ability to shoot laser beams from my eyes, or change my appearance like a chameleon, or even disappear entirely.
Needless to say, we haven’t quite reached the lofty ambitions of my childhood dreams Gene Therapy and Testing.
But just because the very laws of nature and physics are not being violated to adhere to a young child’s fantasy doesn’t mean that gene therapy isn’t cool.
In fact, this science is behind some absolutely fantastic developments in many aspects of medicine.
Human is being used to treat a wide range of diseases including cystic fibrosis, Gene Therapy and Testing
adenosine deaminase deficiency, familial hypercholesterolemia, cancer and more.
More specifically, gene therapy is beginning to be applied in ophthalmology too, for conditions ranging from age-related macular degeneration to Leber’s congenital amaurosis.
You could have a gene that causes blindness For all the uses of gene therapy,
the most interesting generally — and for optometry specifically — is in its potential for treating inherited retinal diseases (IRDs).
Also known as monogenic retinal diseases, IRDs are a major cause of blindness in the pediatric and working-age population in many countries, ลาวสามัคคี
and pathogenic variants in more than 250 genes can cause various forms of IRDs.
For most of these diseases, no medical or surgical treatments currently exist, but this may change as a number of therapeutic trials are underway.
There are many different IRDs that clinicians should be aware of, however a specific few are encountered more commonly.
These include retinitis pigmentosa (a group of related eye disorders caused by variations in 60 different genes); choroideremia (which causes progressive vision loss
and is usually associated with night blindness); and Stargardt macular dystrophy, (which causes damage to the macula).
These and the other IRDs may be relatively rare, but they significantly impact patient’s quality of life and usually cause a gradual loss of vision or even total blindness.
Gene therapy may seem like the cutting-edge of science fiction to some, but the technology is actually relatively simple when broken down into its key components.
The technique usually involves one of two related concepts:
Firstly, a faulty or inactive gene that can cause diseases is replaced before it can cause the patient harm.
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