Here is where I’ll post my genetics assignments for the 2022 Spring Semester.

Writing Assignment #1

            Throughout my life I have always loved Marine Biology. From a young age I was studying marine mammals, specifically Orca Whales and Bottlenose Dolphins as extra credit assignments while everyone else was working on phonics and homonyms.  As I progressed into my teens, I started to see the ways I can apply that knowledge, aptitude, and wonderment into a professional setting. I got involved with a Governor’s School near my hometown, the Chesapeake Bay Governor’s School for Marine and Environmental Science. It was there that I started studying Marine Science more intensely, dissecting a creature from each of the seven major phyla.

Around the end of my Sophomore Year, I started looking towards college, and it was then that I found the Marine Biology Concentration Program at Old Dominion University. I was immediately amazed at how much funding was put into the program, the unique opportunities that were presented, and how interesting the general coursework was. Of course, I looked into other Universities as well, Oregon State University, Florida Polytechnical Institute, but only Old Dominion University seemed right for me.

Not only did ODU have the right academic program for me, including the opportunity to double-major in both Marine Biology and Mechanical Engineering, but it also paved the way for me to continue to progress my hobbies and passions. They had an amazing Marching Band for me to join and make my mark on, multiple concert ensembles for me to join that wouldn’t interrupt my studies, a Fraternity with roots in service for me to continue serving the community around me, and an Honor’s College to keep me to my standard of academic excellence.

Between my musical aptitude, my love for content creation, my need to give back to the community, and my record of academic excellence, I knew that Old Dominion University would be the only place that would fit all those needs. However, it wasn’t just the University and my academics who made me who I am today.

Throughout my High School Career, I completed over 240 hours of Community and Environmental Service, earning me the President’s Volunteer Service Award when I graduated, complete with a signed letter from the President himself. Combine that experience with my time with the Boy Scouts of America and Order of the Arrow, and I built myself a solid repertoire for a lifetime of service to my community that I intend to continue.

To pursue my education in whatever I do next is paramount to the next step in my life. Whether it be applying for a job where I can start my lifelong dream of researching marine mammals, going into a career where I can continue to grow and learn as an engineer, or to continue my education at a graduate school, it is my intention to continue to learn as much as I can about this wonderful world around me. To take from this world and this life is essential, but to learn from it is a life fully lived.

Writing Assignment #2

There are multiple types of Scientific Articles that can be cited in an essay. The first form is a primary article. A primary article is an article that contains original scientific reports of new research findings. They typically have an Introduction, Methods, Results, Discussion, and References section, and are usually peer-reviewed. An example of this would be an experimental study, like the one I did in high school concerning bullet penetration into wood and plastic tables. While this one was not peer-reviewed, it was primary data on a scientific study that contains each of the sections listed earlier.

            The second type of Scientific Article is a review article. A review article does not contain Methods or Results, but usually contains an Introduction and Discussion portion. It provides a summary of existing research on a specific topic. When you want to gain knowledge on a topic you are not very familiar with, a review article is typically where you want to start.

            When a primary article is written, it goes through the scientific peer-review process. This is done when the article undergoes a rigorous and in-depth review process, including revisions to the original article by those who are in the same discipline as the author(s). All this happens before any publication to a scholarly journal. The peer-review process can be applied to empirical studies, review articles, and other forms of scientific articles, including meta-analysis.

            Of the two articles which were provided on Blackboard, the one titled “Permanent inactivation of Huntington’s disease mutation by personalized allele-specific GRISPR/Cas9” is the primary article. This is because it contains original data and an introduction, methods, results, discussion, and references portion. The second article, titled “Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic Strategies” is the review article. This article does not contain a methods section, but rather lists different mechanisms and strategies pertaining to Huntington’s disease.

Writing Assignment #3

Parker C. C., et. al. Radiotherapy to the primary tumour for newly diagnosed, metastatic prostate cancer (STAMPEDE): a randomised controlled phase 3 trial. Lancet 1;392(10162), 2353-2366 (2018).

Writing Assignment #4

            The study in question was focused on hereditary spastic paraplegias or HSPs. They are heterogeneous disorders that have diversified clinical manifestations. For proper diagnosis and typing of the HSPs, genetic testing is paramount. Symptoms of the HSPs include progressive spasticity, weakness in extremities, and impairment to the dorsal column. HSPs themselves are divided into “pure and complicated forms”.

There are multiple inheritance patterns for the HSPs, including autosomal dominant, autosomal recessive, X-linked recessive, and mitochondrial maternally inheritances. The pure HSPs are mainly transmitted in an autosomal dominant form, whereas the complicated HSPs are transmitted in a mostly autosomal recessive pattern. As of right now, over 70 genetic types of HSP have been reported. HSP-related gene mutations usually point mutations, or a genetic mutation where a single nucleotide base is either changed, inserted, or deleted from a DNA or RNA sequence. The purpose of the study was to report the results of genetic tests of HSP patients.

To start, 2mL of blood was collected from 53 patients diagnosed with HSP. The study was approved by the ethics committees of the Chinese PLA General Hospital, and written informed consent was obtained from each patient.

Gene panel sequencing containing 55 HSP-related genes was performed on the collected blood. Four additional related genes were also added to the gene panel due to the genes accounting for inherited diseases that manifest similarly to HSPs.

The contaminant sequences were filtered using Solexa QA and cutadapt, and were then aligned to the reference genome by SOAPaligner, and the PCR duplicates were then removed by Picard software. After the pathogenic gene mutations were obtained in the sequencing, a separate sequencing (Sanger) was used to validate if the family members carried the same pathogenic gene mutations.

Out of the 53 patients, 15 were found to carry mutations in HSP-related genes. The results showed a higher mutation rate in patients with a family history rather than in sporadically mutated patients. These results were shown to be consistent with a Norwegian epidemiological study. It is believed that this is due to the fact that the diagnosis of sporadic HSP is exclusive, meaning that misdiagnosis would decrease the rate of mutation detection in genetic testing.

In summary, the authors noted that, except for three of the known pathogenic mutations noted in the article, the pathogenicity of other mutations related to HSP is “worth to be further investigated in the following study”. The authors went on to mention multiple specific mutations to study.

Citation:

Cui F., et. Al. Genetic mutation analysis of hereditary spastic papalegia: A retrospective study. Medicine (Baltimore) 5;99 (2020).

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