Of Rising ScholarsFall 2022
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Carondelet High SchoolClass of 2023Antioch, California
- "A proposal to genetically edit the mutated Cardiac Troponin T gene using CRISPR to lower the incidence of Hypertrophic Cardiomyopathy" with mentor Clayton (Aug. 28, 2022)
A proposal to genetically edit the mutated Cardiac Troponin T gene using CRISPR to lower the incidence of Hypertrophic Cardiomyopathy
Started May 20, 2022
Abstract or project description
Through doing a literature review on the subject of familial hypertrophic cardiomyopathy (HCM) and the mutated genes implicated in that disease, I found that the mutated gene Cardiac Troponin T (cTnT) often leads to the development of HCM and sudden cardiac death (SCD). This specific gene accounts for about 15% of all the known HCM cases. The mutated cTnT gene is viewed as a missense mutation which switches two different amino acids, glutamine and arginine, resulting in HCM. Using the gene editing tool Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas9, I hope to design a method to edit the mutated cTnT gene leading to a normally functioning cTnT protein and therefore leading to a heart without HCM. With this tool, I replace the mutated cTNT mutated gene with an unmutated cTNT gene, which will lead to the proper sequence of amino acids being made and ultimately lead to a fully functioning protein. Upon learning and understanding the proposal to correct HCM, one can see that Hypertrophic Cardiomyopathy is a serious condition that many people inherit today. This inheritance is known as autosomal dominant and leads to an offspring having a 50% chance of inheriting if either one of the parents have the mutation. Later on in life, symptoms may or may not arise but many of those times the manifestation of HCM is SCD. There is much known about HCM and the various genes/mutations associated with it and through this project, my goal is to aid in finding a possible treatment that reduces the amount of people that suffer from this condition.