The world of CRISPR — Think about it!
We are living in a world that has resources at its disposal. Yet, we forget to use them to target the complications that we face. We often attempt to solve major problems without looking at different viewpoints. I thus went on a journey to treat complications that arise from Down Syndrome through the use of gene-editing.
Genetic engineering is a huge field. This is why I had to narrow down my approach by using CRISPR to work on this project. My focus is to alter genes to subsidize the complications.
Down Syndrome cannot be cured, as of yet. Down syndrome is when a child is born with an extra chromosome (Chromosomes are DNA wrapped in the tight coil). Children/people without down syndrome are typically born with 46 chromosomes. However, down syndrome patients have an extra copy which makes it 47 chromosomes.
However, my approach to help down syndrome patients is to stop or treat complications that arise from down syndrome. For instance, congenital heart defects (CHD) is a common area of concern for down syndrome patients. Thus, I got busy researching potential ways that I could help these people.
When doing this experiment I started off by looking at gene editing and working with down syndrome in general. In this process, I interviewed many peers to understand their understanding of whether they would use gene editing to cure down syndrome or the complications. Some people I was able to reach out was Diba Dindoust, Saanvi Dixit and Tejvir (AKA, My Brother). Some things they said were….
“I wouldn't use gene editing at the stage we currently are in because there are no updated and tested techniques yet. I feel like if I was to be a parent of down syndrome, I would not use gene editing specifically but CRISPR may be a 60% of me agreeing. I know that there has been tested but there is no way we could cure or take out a WHOLE gene of trisomy 21.”These are some statements Diba had presented.
“I would definitely use CRISPR but not for 100% because many implications could arise that could cause more effects. The implications can be very general sometimes but solving down syndrome is very general so maybe the complications that arise such as CHD. These are some brief statements Saanvi had presented.
Let me break this down:
I started by gaining knowledge of the science behind the topic. I looked at karyotyping, protein synthesis, and general vocabulary. Well, I used an online knowledge base website called Researchgate to gain information about the mutations and genes. More specifically it is the knowledge base that is responsible for the aggregation, curation, integration, and dissemination of knowledge regarding the impact of human genetic variation on this gene mutation response. This database helped me with many things like…
1.) The curation of knowledge for the mutation, its metabolizing pathway, and specific responses from the body
2.) The checking of my knowledge through looking at various studies.
I found out many things, for example of how your body process when having a specific gene. Let’s see some of the things I got to learn throughout this source.
Congenital Heart Disease (CHD)
Congenital heart disease (CHD) is one or more problems with the heart’s structure that exist since birth. Congenital means that you’re born with the defect. Congenital heart disease, also called congenital heart defect, can change the way blood flows through your heart. Some congenital heart defects might not cause any problems. Complex defects, however, can cause life-threatening complications.
Congenital Heart Disease (CHD) is a very general heart disease because the most common one in this defect is the Ventricular Septal Defect. A Ventricular Septal Defect (VSD) is a hole in the heart and is a common heart defect that is present at birth (congenital). The hole (defect) occurs in the wall (septum) that separates the heart’s lower chambers (ventricles) and allows blood to pass from the left to the right side of the heart which can cause a lot of problems.
I broke this information down to realize what in the ventricular septal defect is causing the mutation and the heart problems. When researching I found out that many different genes are working with the mutation but at the same time have a good purpose, for example, one of the genes was made to provide strength.
GATA Gene
One of the genes that have a good baseline towards the mutation was GATA4. This gene has a unique way of providing us with needs. This gene encodes a member of the GATA family (ATA transcription factors are a family of transcription factors defined by their ability to bind to the DNA sequence “GATA”) of zinc finger transcription factors (A zinc finger is a small protein basic subject that is defined by the coordination of one or more zinc ions (Zn2+) to secure the fold.) Members of this family recognize the GATA theme which is present in the promoters of many genes.
This protein is thought to controls genes involved in embryogenesis and myocardial function. Mutations in this gene have been connected with cardiac septal defects as well as reproductive defects. GATA4 regulates hypertrophic growth of the heart and maintains cardiac function in the adult heart.
Now that I had found the main definition or proposition of the gene, I moved on to searching research papers and looking for what people have found regarding the implication of what in the gene specifically is causing the mutation.
GATA4 Mutation
I stumbled upon this research paper where a group of people worked on researching this gene. They worked on look varieties of specific places. And let’s see what I found out…
The GATA4 gene is very general but WAIT, where is that specific place in the gene where the mutation is being made/occurs? When researching I found out that Yanwei Zhang, MD, Feng Ai, MS, Jiayong Zheng, MS, Bangtian Peng, BS researched how could we work this mutation.
They did a total of 11 studies that were evaluated. There was no vital agreement between GATA4 99 G>T mutations and the risk of CHD, whereas GATA4 354 A>C mutation was significantly associated with CHD risk. Subgroup analysis was further performed for GATA4 99 G>T mutations based on sample size, and no important association with GATA4 99 G>T mutation and the risk of CHD was found in all subgroups. More information stated that that the GATA4 354 was the highest cause for the mutation to occur.
CRISPR would be an effective tool to treat these conditions. In fact, this genetic tool is the perfect way to remove the GATA 354 mutation and stop VSD. But hold up…. what is CRISPR? CRISPR-Cas9 is a unique technology that enables geneticists and medical researchers to edit parts of the genome by removing, adding or altering sections of the DNA sequence. It is a powerful tool that helps edit genes/mutations. Specifically, I will be using CRISPR Cas-9.
My experiment may be a big impact on the world!!!
This is just one complication that is associated with down syndrome but I am looking forward to researching other health problems. I am interested in solving other health problems using the help of CRISPR.
