The eyes are among the most intricate and complex organs in the human body, which is why their treatment is challenging. They are delicately inundated with blood vessels and nerves directly connected to the brain, which are notoriously difficult to understand. However, a key piece to the jigsaw of human medicine has been discovered, which may make a huge difference to our understanding of the eye in the future.

The scientific achievement we are referring to is the first gapless human genome, which contains all the genetic ‘instructions’ inside our cells, which are required to ‘build’ a human.

How does this affect the future of eye health? It gives us a much deeper understanding of a vast number of disorders. According to a study in the Journal of the Royal Society of Medicine:

“Of the four thousand or more human genetic disorders that have been catalogued, at least 10% directly or indirectly affect the retina.” (Professor Mariya Moosajee)

That is a huge number of disorders. By analysing a complete genome sequence, the most unusual mysteries of genetics will become clearer than ever.

The first gapless human genome

This remarkable achievement came from the University of California, Santa Cruz, led by the Telomere-to-Telomere consortium. Their analysis has built on breakthroughs twenty years ago, improving the accuracy of our understanding of genetic code to unprecedented levels.

The gene-therapies that have been developed in the last twenty years have been eye-opening to say the least. From gene-editing (https://seriousreaders.com/blog/gene-editing-could-cure-forms-of-blindness) to RNA injections into the retina to slow down Age-Related Macular Degeneration, we are better placed than ever to treat some of the most difficult conditions that humans can acquire.

Now that there is a full and complete genome for future scientists to refer to, there will be therapies that are fine tuned to the molecular level.

The gapless human genome also allows us to predict which conditions are likely to arise in people. For slow-developing, incurable conditions like Glaucoma and AMD, a lot of damage can occur before a patient suffers symptoms. By using a patient’s genetics to predict a condition, therapies will be started earlier, and millions of patients will have their sight preserved before permanent sight-loss begins.

We live in a time of incredible advancement in medical science. Wherever the human genome takes us, it will be fascinating to see just how much more it teaches us about ourselves.

Sources:

Singh, Mahavir, and Suresh C Tyagi. “Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.” International journal of ophthalmology vol. 11,1 117-134. 18 Jan. 2018, doi:10.18240/ijo.2018.01.20

Moosajee, Mariya. “Genes and the eye.” Journal of the Royal Society of Medicine vol. 98,5 (2005): 206-7. doi:10.1258/jrsm.98.5.206

Klein ML, Francis PJ. Genetics of age-related macular degeneration. Ophthalmol Clin North Am. 2003 Dec;16(4):567-74. doi: 10.1016/s0896-1549(03)00063-4. PMID: 14740997.

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