Human Genome Editing to Prevent Genetic Diseases

Nic Ferron

Courtice Secondary School

SBI 4U1

Ms. Buchner

January 18, 2023

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Human Genome Editing to Prevent Genetic Diseases

The revolutionary advancements in the world of human genome editing have allowed for

the emergence of the CRISPR-Cas9 technologies, which permit for the prevention of genetic

diseases. These developing technologies have the potential to put an end to many genetic

diseases and disorders as well as ease their symptoms through therapy. Deoxyribonucleic acid

(DNA) carries the entire genetic information for an organism; the idea behind human genome

editing is that if scientists can find a way to split DNA during genetic replication they can then

modify the genetic material (U.S. National Library of Medicine, 2022).

All living organisms contain a unique genome which contains the complete set of an

organism’s hereditary information. Over the past 20 years, scientists have mapped out 92% of all

23 homologous chromosome pairs found in humans (Mooney, 2020). This accounts for almost 3

billion base pairs which each code for the different creation of amino acids which build up

polypeptide chains which altogether make up proteins. These proteins are the building blocks in

every cell in the body and allow for life. As soon as a single base pair has undergone an error,

known as a mutation, a different protein will be created. This is where genetic diseases can

occur, known as mutations. Mutations are often looked at as a negative, however genome editing

works through creating “positive” mutations to reverse the negative effects of mutations (U.S.

National Library of Medicine, 2022).

CRISPR-Cas9 is a technology that allows for scientists and doctors to modify, delete or

correct the root cause of diseases and disorders found in specific strands of DNA. The gene

editing system is made from two key pieces: Cas9 and a guide RNA. Cas9 is the enzyme that

makes the cutting of DNA possible. The guide RNA binds to the Cas9 and guides it to a specific

location in the DNA where the modification will occur. Also a part of the guide RNA is a target
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specific sequence which will be used to change the base pairings. Once the two pieces arrive at

the site, the Cas9 binds and begins to unwind the DNA helix, allowing for the target specific

sequence to bind to the single strand of DNA. Now that the two strands have paired together, the

Cas9 enzyme cuts the strand off and the DNA undergoes its normal repair system. Once repaired,

this results in a different strand of DNA being made that was not previously in the original

genome, thus fixing the mutation. Through this splicing technique, scientists can attempt

different variations to attack different types of mutations. These techniques are disruptions,

deletions and corrections which all serve their own unique purpose. Disruptions occur when only

a single site is modified and new base pairs are added in. Deletions are when two sites are

modified and the DNA strand between the two is completely removed. Corrections are when two

sites are modified, but rather than removing the old strand, it is replaced with another strand that

is placed by a Cas9 enzyme (Charpentier, 2022).

With the ability to interrupt genetic codes, scientists can locate specific gene sequences

that code for genetic diseases and then modify them to treat the issue. When it comes to

treatment, there are several different approaches. Diseases can be treated through disruptions,

deletions and corrections to the gene depending on the disease's structure. Another approach is to

modify the disease's DNA. Certain symptoms tied to diseases could be significantly reduced

through the creation of a new protein due to the new genetic coding. For example, the effects of

colour blindness could be reduced by introducing the protein to activate colour interpreting cones

(Fernandez, 2021).

Scientists believe that the first diseases to be cured by CRISPR will be small scale point

mutations like sickle cell disease. This is the case because diseases like this are caused by a

single mutation within a gene. Thus a simple deletion with CRISPR technologies would resolve
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the mutation. Unfortunately not all diseases are this simple and are far more intricate. Another

application for this technology would be to treat cancer. Currently certain proteins bind to tumor

cells and prevent an immune response against cancer. Using the CRISPR technology, scientists

could significantly reduce the chances of certain types of cancer by preventing these proteins

from being made by removing their coding (Kuruvilla et al., 2018). This is also the case for

many neurodegenerative diseases like Alzhiemer’s or ALS. Currently, any genome editing that

can be inherited by future generations is illegal on humans. For now, it is important to improve

and develop the technology through tests on animals, similar to our gene structure like tilapia,

before applying it on humans to avoid creating more issues than what scientists are already

trying to cure (Li et al., 2021).

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References

Mooney, C. (2020). The Human Genome : Mapping the Blueprint of Human Life. : Nomad Press.

eBook Collection (EBSCOhost).

Charpentier, E. (2022). CRISPR/Cas9. CRISPR Therapeutics.

https://crisprtx.com/gene-editing/crispr-cas9

Fernandez, C. R. (2021). Eight diseases CRISPR technology could cure. Labiotech.EU.

https://www.labiotech.eu/best-biotech/crispr-technology-cure-disease/

Kuruvilla, J., Sasmita, A. O., & Ling, A. P. K. (2018). Therapeutic potential of combined viral

transduction and CRISPR/Cas9 gene editing in treating neurodegenerative diseases.

Neurological Sciences, 39(11), 1827–1835. https://doi.org/10.1007/s10072-018-3521-0

Li, M., Dai, S., Liu, X., Xiao, H., & Wang, D. (2021). A detailed procedure for

CRISPR/Cas9-mediated gene editing in tilapia. Hydrobiologia, 848(16), 3865–3881.

https://doi.org/10.1007/s10750-020-04414-8

What are genome editing and CRISPR-Cas9?. (2022). U.S. National Library of Medicine.

https://medlineplus.gov/genetics/understanding/genomicresearch/genomeediting/